#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
CCNL2	81669	broad.mit.edu	37	1	1334552	1334552	+	Silent	SNP	C	C	T			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr1:1334552C>T	ENST00000400809.3	-	1	140	c.135G>A	c.(133-135)gtG>gtA	p.V45V	RP4-758J18.2_ENST00000444362.1_5'Flank|RP4-758J18.2_ENST00000576232.1_5'Flank|CCNL2_ENST00000408918.4_Silent_p.V45V|MRPL20_ENST00000493287.1_5'Flank|CCNL2_ENST00000408952.5_5'Flank|RP4-758J18.2_ENST00000448629.2_5'Flank	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	45					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.V45V(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		AGGTGATGAGCACCCCGGAGT	0.701																																																1	Substitution - coding silent(1)	ovary(1)	1											81.0	65.0	70.0					1																	1334552		2202	4300	6502	1324415	SO:0001819	synonymous_variant	81669			AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.135G>A	1.37:g.1334552C>T			1324415	A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Silent	SNP	ENST00000400809.3	37	CCDS30557.1																																																																																				0.701	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937	
RWDD3	25950	broad.mit.edu	37	1	95709781	95709781	+	Missense_Mutation	SNP	G	G	C	rs369999943		TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr1:95709781G>C	ENST00000370202.4	+	2	176	c.100G>C	c.(100-102)Gtg>Ctg	p.V34L	RP11-57H12.5_ENST00000444665.1_RNA|RWDD3_ENST00000429514.2_Missense_Mutation_p.V19L|RWDD3_ENST00000495272.1_3'UTR|RWDD3_ENST00000263893.6_Missense_Mutation_p.V34L|RP11-57H12.6_ENST00000604534.1_Missense_Mutation_p.R194P	NM_001199682.1|NM_015485.4	NP_001186611.1|NP_056300	Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3	34	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of hypoxia-inducible factor-1alpha signaling pathway (GO:1902073)|positive regulation of protein sumoylation (GO:0033235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V34L(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		AGATGGGACCGTGTTCAGAAT	0.388																																																1	Substitution - Missense(1)	ovary(1)	1											126.0	117.0	120.0					1																	95709781		1872	4104	5976	95482369	SO:0001583	missense	25950			BC010936	CCDS41357.1, CCDS44177.1	1p22.1	2012-12-07			ENSG00000122481	ENSG00000122481			21393	protein-coding gene	gene with protein product		615875				11230166	Standard	NM_015485		Approved	DKFZP566K023	uc009wdu.3	Q9Y3V2	OTTHUMG00000010910	ENST00000370202.4:c.100G>C	1.37:g.95709781G>C	ENSP00000359221:p.Val34Leu		95482369	A6NP44|A8K9F0|C9J9L7|C9JI45|Q08AJ7|Q6FID3|Q9BX35	Missense_Mutation	SNP	ENST00000370202.4	37	CCDS41357.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.757796	0.31137	.	.	ENSG00000122481	ENST00000370202;ENST00000429514;ENST00000263893	T;T;T	0.28895	1.95;1.59;1.95	5.27	1.12	0.20585	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.395711	0.26665	N	0.023139	T	0.05868	0.0153	.	.	.	0.09310	N	1	B;B;B;B;B	0.32382	0.18;0.061;0.001;0.368;0.002	B;B;B;B;B	0.31495	0.088;0.066;0.009;0.131;0.005	T	0.25117	-1.0141	9	0.27785	T	0.31	-14.4099	3.738	0.08518	0.4068:0.0:0.3254:0.2678	.	19;34;34;19;34	E7ES73;Q9Y3V2;D3DT49;Q9Y3V2-3;Q9Y3V2-2	.;RWDD3_HUMAN;.;.;.	L	34;19;34	ENSP00000359221:V34L;ENSP00000397398:V19L;ENSP00000263893:V34L	ENSP00000263893:V34L	V	+	1	0	RWDD3	95482369	0.173000	0.23056	0.950000	0.38849	0.993000	0.82548	0.397000	0.20883	0.723000	0.32274	-0.143000	0.13931	GTG		0.388	RWDD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030078.1	NM_015485	
GJA8	2703	broad.mit.edu	37	1	147380369	147380369	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr1:147380369C>T	ENST00000369235.1	+	1	287	c.287C>T	c.(286-288)gCg>gTg	p.A96V	GJA8_ENST00000240986.4_Missense_Mutation_p.A96V			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	96					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)	p.A96V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GTGGGGCACGCGGTGCACTAC	0.657																																					Melanoma(76;1255 1795 8195 52096)											1	Substitution - Missense(1)	ovary(1)	1											103.0	84.0	91.0					1																	147380369		2203	4300	6503	145846993	SO:0001583	missense	2703			U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.287C>T	1.37:g.147380369C>T	ENSP00000358238:p.Ala96Val		145846993	A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	c	9.186	1.024704	0.19433	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.98958	-5.27;-5.27	5.2	5.2	0.72013	Connexin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96040	0.8710	N	0.10645	0.015	0.58432	D	0.999999	D	0.89917	1.0	D	0.66602	0.945	D	0.94268	0.7508	10	0.06236	T	0.91	.	18.721	0.91692	0.0:1.0:0.0:0.0	.	96	P48165	CXA8_HUMAN	V	96	ENSP00000240986:A96V;ENSP00000358238:A96V	ENSP00000240986:A96V	A	+	2	0	GJA8	145846993	1.000000	0.71417	0.666000	0.29783	0.648000	0.38561	6.020000	0.70826	2.409000	0.81822	0.491000	0.48974	GCG		0.657	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267	
CYB5R1	51706	broad.mit.edu	37	1	202932829	202932829	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr1:202932829G>A	ENST00000367249.4	-	7	660	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W	CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	196					sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)	p.R196W(1)		breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	AGGATGGCCCGGATCAGCTGT	0.517																																																1	Substitution - Missense(1)	ovary(1)	1											127.0	106.0	113.0					1																	202932829		2203	4300	6503	201199452	SO:0001583	missense	51706			AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"""NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"""	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.586C>T	1.37:g.202932829G>A	ENSP00000356218:p.Arg196Trp		201199452	A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Missense_Mutation	SNP	ENST00000367249.4	37	CCDS1431.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284167	0.80803	.	.	ENSG00000159348	ENST00000367249	D	0.87571	-2.27	5.93	5.01	0.66863	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.351913	0.26026	N	0.026782	D	0.94450	0.8214	H	0.94698	3.57	0.50632	D	0.999884	D	0.76494	0.999	D	0.62955	0.909	D	0.95382	0.8474	10	0.87932	D	0	-5.8142	12.6473	0.56742	0.0795:0.0:0.9205:0.0	.	196	Q9UHQ9	NB5R1_HUMAN	W	196	ENSP00000356218:R196W	ENSP00000356218:R196W	R	-	1	2	CYB5R1	201199452	1.000000	0.71417	0.996000	0.52242	0.961000	0.63080	5.838000	0.69388	1.503000	0.48686	0.655000	0.94253	CGG		0.517	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099155.1	NM_016243	
SKIDA1	387640	broad.mit.edu	37	10	21804259	21804259	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr10:21804259C>A	ENST00000449193.2	-	4	4745	c.2493G>T	c.(2491-2493)aaG>aaT	p.K831N	SKIDA1_ENST00000444772.3_Missense_Mutation_p.K752N	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	750						nucleus (GO:0005634)		p.K831N(1)									TGCTGGCTACCTTTTTGCGTC	0.403																																																1	Substitution - Missense(1)	ovary(1)	10											156.0	149.0	151.0					10																	21804259		1927	4131	6058	21844265	SO:0001583	missense	387640			AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.2493G>T	10.37:g.21804259C>A	ENSP00000410041:p.Lys831Asn		21844265	B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	ENST00000449193.2	37	CCDS44363.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839661	0.51057	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	5.64	5.64	0.86602	.	0.053060	0.64402	D	0.000001	T	0.45538	0.1347	N	0.14661	0.345	0.41018	D	0.985054	B	0.32245	0.361	B	0.30646	0.118	T	0.50101	-0.8867	9	0.72032	D	0.01	0.2383	20.0534	0.97636	0.0:1.0:0.0:0.0	.	831	E9PAX1	.	N	831;752	.	ENSP00000442432:K752N	K	-	3	2	C10orf140	21844265	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.916000	0.39986	2.821000	0.97095	0.655000	0.94253	AAG		0.403	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371	
LDB3	11155	broad.mit.edu	37	10	88459050	88459050	+	Silent	SNP	G	G	T	rs144445130	byFrequency	TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr10:88459050G>T	ENST00000372066.3	+	8	850	c.771G>T	c.(769-771)acG>acT	p.T257T	LDB3_ENST00000263066.6_Intron|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000372056.4_Silent_p.T372T|LDB3_ENST00000310944.6_Silent_p.T304T|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000429277.2_Intron|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000458213.2_Intron	NM_001080116.1	NP_001073585.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GGTTTGAAACGGAACGTAACA	0.483																																																0			10											159.0	169.0	166.0					10																	88459050		1923	4142	6065	88449030	SO:0001819	synonymous_variant	11155			AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000372066.3:c.771G>T	10.37:g.88459050G>T			88449030		Silent	SNP	ENST00000372066.3	37	CCDS41545.1																																																																																				0.483	LDB3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049161.1		
C11orf40	143501	broad.mit.edu	37	11	4594547	4594547	+	Nonsense_Mutation	SNP	G	G	T			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr11:4594547G>T	ENST00000307616.1	-	2	296	c.297C>A	c.(295-297)tgC>tgA	p.C99*		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	99								p.C99*(1)		large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		GTACCCTAAAGCAAGGTCTTT	0.488																																																1	Substitution - Nonsense(1)	ovary(1)	11											215.0	175.0	188.0					11																	4594547		2201	4298	6499	4551123	SO:0001587	stop_gained	143501				CCDS31354.1	11p15.5	2005-10-03			ENSG00000171987	ENSG00000171987			23986	protein-coding gene	gene with protein product							Standard	NM_144663		Approved	NOV1	uc010qyg.2	Q8WZ69	OTTHUMG00000165345	ENST00000307616.1:c.297C>A	11.37:g.4594547G>T	ENSP00000302918:p.Cys99*		4551123		Nonsense_Mutation	SNP	ENST00000307616.1	37	CCDS31354.1	.	.	.	.	.	.	.	.	.	.	G	7.892	0.732480	0.15507	.	.	ENSG00000171987	ENST00000307616	.	.	.	1.45	-1.97	0.07503	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999999	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	1.9769	0.03418	0.381:0.0:0.3577:0.2613	.	.	.	.	X	99	.	ENSP00000302918:C99X	C	-	3	2	C11orf40	4551123	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.424000	0.07025	-0.653000	0.05401	-0.718000	0.03613	TGC		0.488	C11orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383529.1	NM_144663	
TRIM3	10612	broad.mit.edu	37	11	6478209	6478209	+	Silent	SNP	G	G	A			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr11:6478209G>A	ENST00000525074.1	-	6	1141	c.747C>T	c.(745-747)ggC>ggT	p.G249G	TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000537602.1_Intron|TRIM3_ENST00000359518.3_Silent_p.G249G|TRIM3_ENST00000536344.1_Silent_p.G130G|TRIM3_ENST00000345851.3_Silent_p.G249G	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	249					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G249G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCAGCTACTGCCGATGTGTT	0.647																																					Melanoma(6;5 510 1540 25169 29084)											1	Substitution - coding silent(1)	ovary(1)	11											55.0	57.0	56.0					11																	6478209		2201	4296	6497	6434785	SO:0001819	synonymous_variant	10612			AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.747C>T	11.37:g.6478209G>A			6434785	B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Silent	SNP	ENST00000525074.1	37	CCDS7764.1																																																																																				0.647	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458	
TTC17	55761	broad.mit.edu	37	11	43472793	43472793	+	Missense_Mutation	SNP	G	G	A	rs372683087|rs34999083		TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr11:43472793G>A	ENST00000039989.4	+	21	3022	c.3008G>A	c.(3007-3009)cGa>cAa	p.R1003Q		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	1003					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.R1003Q(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						ATTGGCACCCGAATTGCCAAA	0.403																																																1	Substitution - Missense(1)	ovary(1)	11						G	GLN/ARG	0,4406		0,0,2203	99.0	94.0	96.0		3008	5.8	1.0	11		96	1,8599	1.2+/-3.3	0,1,4299	no	missense	TTC17	NM_018259.5	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1003/1142	43472793	1,13005	2203	4300	6503	43429369	SO:0001583	missense	55761			AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.3008G>A	11.37:g.43472793G>A	ENSP00000039989:p.Arg1003Gln		43429369	G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	CCDS31466.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.343505|5.343505	0.95783|0.95783	0.0|0.0	1.16E-4|1.16E-4	ENSG00000052841|ENSG00000052841	ENST00000418561|ENST00000039989	.|T	.|0.36699	.|1.24	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.54208|0.54208	0.1844|0.1844	L|L	0.52573|0.52573	1.65|1.65	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.72625	.|0.978	T|T	0.34650|0.34650	-0.9820|-0.9820	5|10	.|0.24483	.|T	.|0.36	-9.1702|-9.1702	18.3318|18.3318	0.90271|0.90271	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1003	.|Q96AE7	.|TTC17_HUMAN	K|Q	22|1003	.|ENSP00000039989:R1003Q	.|ENSP00000039989:R1003Q	E|R	+|+	1|2	0|0	TTC17|TTC17	43429369|43429369	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.528000|8.528000	0.90598|0.90598	2.757000|2.757000	0.94681|0.94681	0.650000|0.650000	0.86243|0.86243	GAA|CGA		0.403	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259	
OR4D10	390197	broad.mit.edu	37	11	59245208	59245208	+	Silent	SNP	T	T	C			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr11:59245208T>C	ENST00000530162.1	+	1	363	c.306T>C	c.(304-306)ttT>ttC	p.F102F		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F100F(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCAGATGTTTCTATTCCACC	0.468																																																1	Substitution - coding silent(1)	ovary(1)	11											94.0	95.0	94.0					11																	59245208		2103	4240	6343	59001784	SO:0001819	synonymous_variant	390197			AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.306T>C	11.37:g.59245208T>C			59001784	B2RNH6	Silent	SNP	ENST00000530162.1	37	CCDS53636.1																																																																																				0.468	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705	
B4GALNT3	283358	broad.mit.edu	37	12	675225	675225	+	IGR	SNP	C	C	T			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr12:675225C>T	ENST00000266383.5	+	0	5068				NINJ2_ENST00000397265.3_Silent_p.K44K|NINJ2_ENST00000542920.1_Silent_p.K15K|NINJ2_ENST00000433832.2_Silent_p.K15K|NINJ2_ENST00000305108.4_Silent_p.K97K|NINJ2_ENST00000537416.1_Intron	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3						metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)	p.K97K(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CCAGCACCGCCTTCAGCCGCA	0.612																																																1	Substitution - coding silent(1)	ovary(1)	12											146.0	100.0	116.0					12																	675225		2203	4300	6503	545486	SO:0001628	intergenic_variant	4815			AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283		12.37:g.675225C>T			545486	Q6ZNC1|Q8N7T6	Silent	SNP	ENST00000266383.5	37	CCDS8504.1																																																																																				0.612	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593	
UBE3B	89910	broad.mit.edu	37	12	109961915	109961915	+	Missense_Mutation	SNP	A	A	T			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr12:109961915A>T	ENST00000342494.3	+	22	3092	c.2497A>T	c.(2497-2499)Atc>Ttc	p.I833F	UBE3B_ENST00000434735.2_Missense_Mutation_p.I833F	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	833	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.I833F(1)		NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CCTCACCTCCATCAAGGTGAG	0.532																																																1	Substitution - Missense(1)	ovary(1)	12											78.0	70.0	73.0					12																	109961915		2203	4300	6503	108446298	SO:0001583	missense	89910			BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.2497A>T	12.37:g.109961915A>T	ENSP00000340596:p.Ile833Phe		108446298	A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	A	35	5.461905	0.96240	.	.	ENSG00000151148	ENST00000434735;ENST00000539599;ENST00000342494;ENST00000538070	T;T;T	0.60548	0.18;0.18;0.18	5.05	5.05	0.67936	HECT (4);	0.047901	0.85682	D	0.000000	T	0.79616	0.4476	M	0.90309	3.105	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.84119	0.0405	10	0.72032	D	0.01	-21.4827	14.1129	0.65134	1.0:0.0:0.0:0.0	.	833	Q7Z3V4	UBE3B_HUMAN	F	833;833;833;128	ENSP00000391529:I833F;ENSP00000443131:I833F;ENSP00000340596:I833F	ENSP00000340596:I833F	I	+	1	0	UBE3B	108446298	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	8.683000	0.91236	2.128000	0.65567	0.459000	0.35465	ATC		0.532	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415	
SLC7A8	23428	broad.mit.edu	37	14	23609786	23609786	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr14:23609786C>T	ENST00000316902.7	-	5	1407	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K	SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000422941.2_Intron|SLC7A8_ENST00000529705.2_Missense_Mutation_p.E123K|SLC7A8_ENST00000469263.1_Missense_Mutation_p.E228K|SLC7A8_ENST00000453702.1_Missense_Mutation_p.E25K	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	228					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)	p.E228K(1)		autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	ATGTCAGGTTCCTGGAAATTC	0.537																																																1	Substitution - Missense(1)	ovary(1)	14											147.0	145.0	146.0					14																	23609786		2203	4300	6503	22679626	SO:0001583	missense	23428			Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"""Solute carriers"""	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.682G>A	14.37:g.23609786C>T	ENSP00000320378:p.Glu228Lys		22679626	B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	ENST00000316902.7	37	CCDS9590.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.059610	0.36373	.	.	ENSG00000092068	ENST00000316902;ENST00000334354;ENST00000469263;ENST00000453702;ENST00000529705;ENST00000206514	D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53	4.81	2.95	0.34219	Amino acid permease domain (1);	0.503622	0.22202	N	0.063231	T	0.75568	0.3867	N	0.12887	0.27	0.80722	D	1	B;B;B	0.14012	0.009;0.003;0.003	B;B;B	0.17979	0.02;0.008;0.014	T	0.65331	-0.6194	10	0.13470	T	0.59	.	9.1864	0.37174	0.0:0.7533:0.0:0.2467	.	123;228;228	B4DKT4;E9PLV9;Q9UHI5	.;.;LAT2_HUMAN	K	228;25;228;25;123;25	ENSP00000320378:E228K;ENSP00000435114:E228K;ENSP00000391577:E25K;ENSP00000434345:E123K	ENSP00000206514:E25K	E	-	1	0	SLC7A8	22679626	0.991000	0.36638	0.996000	0.52242	0.975000	0.68041	0.811000	0.27198	1.177000	0.42855	0.563000	0.77884	GAA		0.537	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3		
KCNH5	27133	broad.mit.edu	37	14	63483609	63483609	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr14:63483609C>A	ENST00000322893.7	-	2	405	c.137G>T	c.(136-138)gGt>gTt	p.G46V	KCNH5_ENST00000394964.2_5'UTR|KCNH5_ENST00000394968.1_5'UTR|KCNH5_ENST00000420622.2_Missense_Mutation_p.G46V	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	46	PAS.				potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.G46V(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTTACAAAAACCGTCATTACT	0.378																																																1	Substitution - Missense(1)	ovary(1)	14											102.0	93.0	96.0					14																	63483609		2203	4299	6502	62553362	SO:0001583	missense	27133			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.137G>T	14.37:g.63483609C>A	ENSP00000321427:p.Gly46Val		62553362	C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884120	0.91814	.	.	ENSG00000140015	ENST00000322893;ENST00000420622	D;D	0.99563	-6.17;-6.17	5.43	5.43	0.79202	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	D	0.99680	0.9880	M	0.88512	2.96	0.80722	D	1	D;D	0.76494	0.99;0.999	D;D	0.79784	0.929;0.993	D	0.97835	1.0265	10	0.87932	D	0	.	19.2407	0.93881	0.0:1.0:0.0:0.0	.	46;46	Q8NCM2-2;Q8NCM2	.;KCNH5_HUMAN	V	46	ENSP00000321427:G46V;ENSP00000395439:G46V	ENSP00000321427:G46V	G	-	2	0	KCNH5	62553362	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.569000	0.86673	0.591000	0.81541	GGT		0.378	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318	
DYNC1H1	1778	broad.mit.edu	37	14	102489219	102489219	+	Splice_Site	SNP	T	T	A			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr14:102489219T>A	ENST00000360184.4	+	43	8801		c.e43+2			NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTGTCAAAGGTAGCAAACTCG	0.423																																																1	Unknown(1)	ovary(1)	14											203.0	168.0	180.0					14																	102489219		2203	4300	6503	101558972	SO:0001630	splice_region_variant	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.8637+2T>A	14.37:g.102489219T>A			101558972	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Splice_Site	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.865127	0.51482	.	.	ENSG00000197102	ENST00000360184	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2481	0.49008	0.0:0.0741:0.0:0.9259	.	.	.	.	.	-1	.	.	.	+	.	.	DYNC1H1	101558972	1.000000	0.71417	0.943000	0.38184	0.487000	0.33371	5.955000	0.70306	2.005000	0.58758	0.383000	0.25322	.		0.423	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	Intron
NLRC3	197358	broad.mit.edu	37	16	3598160	3598160	+	RNA	SNP	G	G	C			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr16:3598160G>C	ENST00000301749.7	-	0	3151				NLRC3_ENST00000603507.1_RNA|LA16c-390H2.4_ENST00000573820.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.L962V(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCCTGTTGAGCTGTAGTGCT	0.587																																																1	Substitution - Missense(1)	ovary(1)	16											32.0	35.0	34.0					16																	3598160		1958	4131	6089	3538161			197358			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3598160G>C			3538161	Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	ENST00000301749.7	37		.	.	.	.	.	.	.	.	.	.	G	11.76	1.735390	0.30774	.	.	ENSG00000167984	ENST00000301749;ENST00000359128;ENST00000448023	T;T;T	0.52983	0.64;0.64;0.64	4.84	2.26	0.28386	.	0.394433	0.26143	N	0.026086	T	0.13884	0.0336	N	0.00815	-1.16	0.19775	N	0.999955	B	0.09022	0.002	B	0.14023	0.01	T	0.23833	-1.0177	10	0.15499	T	0.54	.	5.0393	0.14451	0.3471:0.0:0.6529:0.0	.	962	C9JLH9	.	V	916;887;962	ENSP00000301749:L916V;ENSP00000352039:L887V;ENSP00000414415:L962V	ENSP00000301749:L916V	L	-	1	0	NLRC3	3538161	0.999000	0.42202	1.000000	0.80357	0.971000	0.66376	1.606000	0.36826	1.045000	0.40225	0.557000	0.71058	CTC		0.587	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844	
ALG1	56052	broad.mit.edu	37	16	5131001	5131001	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr16:5131001A>G	ENST00000262374.5	+	10	1047	c.1016A>G	c.(1015-1017)cAg>cGg	p.Q339R	ALG1_ENST00000588623.1_Missense_Mutation_p.Q228R|ALG1_ENST00000544428.1_Missense_Mutation_p.Q228R	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	339					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)	p.Q339R(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				AAGCACTTCCAGCACATCCAG	0.612																																																1	Substitution - Missense(1)	ovary(1)	16											76.0	93.0	87.0					16																	5131001		1385	2358	3743	5071002	SO:0001583	missense	56052			AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"""Glycosyltransferase group 1 domain containing"""	18294	protein-coding gene	gene with protein product		605907	"""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)"", ""asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"""			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.1016A>G	16.37:g.5131001A>G	ENSP00000262374:p.Gln339Arg		5071002	B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Missense_Mutation	SNP	ENST00000262374.5	37	CCDS10528.1	.	.	.	.	.	.	.	.	.	.	A	8.115	0.779672	0.16120	.	.	ENSG00000033011	ENST00000262374;ENST00000544428	D;D	0.84298	-1.83;-1.83	6.07	0.186	0.15105	Glycosyl transferase, family 1 (1);	0.351137	0.33161	N	0.005210	T	0.77718	0.4172	L	0.46741	1.465	0.40506	D	0.980691	B;B	0.14012	0.003;0.009	B;B	0.19391	0.01;0.025	T	0.66208	-0.5981	10	0.34782	T	0.22	-16.4513	9.69	0.40123	0.6472:0.0:0.3528:0.0	.	228;339	B4DP08;Q9BT22	.;ALG1_HUMAN	R	339;228	ENSP00000262374:Q339R;ENSP00000440019:Q228R	ENSP00000262374:Q339R	Q	+	2	0	ALG1	5071002	0.993000	0.37304	0.427000	0.26684	0.020000	0.10135	0.924000	0.28777	-0.025000	0.13918	0.528000	0.53228	CAG		0.612	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251716.2	NM_019109	
KIAA0556	23247	broad.mit.edu	37	16	27788290	27788290	+	Silent	SNP	G	G	T			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr16:27788290G>T	ENST00000261588.4	+	25	4510	c.4491G>T	c.(4489-4491)gtG>gtT	p.V1497V		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1497						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V1497V(1)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CTACCACCGTGTCAATGATCA	0.448																																																1	Substitution - coding silent(1)	ovary(1)	16											220.0	215.0	217.0					16																	27788290		2197	4300	6497	27695791	SO:0001819	synonymous_variant	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.4491G>T	16.37:g.27788290G>T			27695791	A7E2C2	Silent	SNP	ENST00000261588.4	37	CCDS32415.1																																																																																				0.448	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202	
SLC6A2	6530	broad.mit.edu	37	16	55735775	55735775	+	Splice_Site	SNP	A	A	G			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr16:55735775A>G	ENST00000379906.2	+	13	2014	c.1759A>G	c.(1759-1761)Aga>Gga	p.R587G	SLC6A2_ENST00000414754.3_Splice_Site_p.R531G|SLC6A2_ENST00000566163.1_Splice_Site_p.R542G|SLC6A2_ENST00000219833.8_Splice_Site_p.R587G|SLC6A2_ENST00000567238.1_Splice_Site_p.R482G|SLC6A2_ENST00000561820.1_Intron|SLC6A2_ENST00000568943.1_Splice_Site_p.R587G	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	587					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)	p.R587G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TTCCTTTCAGAGACTGGCCTA	0.612											OREG0023807	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	16											74.0	73.0	73.0					16																	55735775		2198	4300	6498	54293276	SO:0001630	splice_region_variant	6530				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1759-1A>G	16.37:g.55735775A>G		1010	54293276	B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	A	18.12	3.553451	0.65425	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	T;T	0.79033	-1.23;-1.17	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.63307	0.2500	N	0.19112	0.55	0.80722	D	1	P;P;P	0.44521	0.837;0.615;0.615	B;B;B	0.38985	0.287;0.284;0.284	T	0.63791	-0.6557	9	.	.	.	.	13.7726	0.63036	1.0:0.0:0.0:0.0	.	301;482;587	F5H0T4;B4DX48;P23975	.;.;SC6A2_HUMAN	G	587;301;587;587	ENSP00000369237:R587G;ENSP00000219833:R587G	.	R	+	1	2	SLC6A2	54293276	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	5.388000	0.66249	1.902000	0.55061	0.528000	0.53228	AGA		0.612	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2		Missense_Mutation
ANKFY1	51479	broad.mit.edu	37	17	4076650	4076650	+	Splice_Site	SNP	T	T	G			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr17:4076650T>G	ENST00000341657.4	-	21	3048	c.3013A>C	c.(3013-3015)Aga>Cga	p.R1005R	ANKFY1_ENST00000574367.1_Splice_Site_p.R1006R|ANKFY1_ENST00000570535.1_Splice_Site_p.R1047R|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	1005					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)	p.R1006R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CGCGCTCACCTGAGATTAAAG	0.622																																																1	Substitution - coding silent(1)	ovary(1)	17											57.0	62.0	61.0					17																	4076650		1953	4147	6100	4023399	SO:0001630	splice_region_variant	51479			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.3014+1A>C	17.37:g.4076650T>G			4023399	A8KA65|Q5RKV4|Q9ULG5	Silent	SNP	ENST00000341657.4	37																																																																																					0.622	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376	Silent
TP53	7157	broad.mit.edu	37	17	7578534	7578534	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr17:7578534C>A	ENST00000269305.4	-	5	585	c.396G>T	c.(394-396)aaG>aaT	p.K132N	TP53_ENST00000413465.2_Missense_Mutation_p.K132N|TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.K132N|TP53_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N	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	132	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(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)	GGCAAAACATCTTGTTGAGGG	0.562		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"""	77	Substitution - Missense(51)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(1)|Substitution - coding silent(1)	urinary_tract(13)|breast(10)|ovary(10)|lung(9)|large_intestine(8)|haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(4)|bone(4)|adrenal_gland(3)|upper_aerodigestive_tract(2)|skin(2)|liver(2)|stomach(1)|penis(1)|oesophagus(1)|pancreas(1)	17											47.0	48.0	48.0					17																	7578534		2203	4300	6503	7519259	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.396G>T	17.37:g.7578534C>A	ENSP00000269305:p.Lys132Asn		7519259	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	21.7	4.186174	0.78789	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	5.48	3.5	0.40072	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99857	0.9933	M	0.91768	3.24	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.998;0.993;0.996;0.999;0.998;1.0	D	0.97328	0.9948	10	0.87932	D	0	-14.0777	10.5581	0.45129	0.0:0.841:0.0:0.159	.	93;132;132;39;132;132;132	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	132;132;132;132;132;132;121;39;39;132	ENSP00000410739:K132N;ENSP00000352610:K132N;ENSP00000269305:K132N;ENSP00000398846:K132N;ENSP00000391127:K132N;ENSP00000391478:K132N;ENSP00000423862:K39N;ENSP00000424104:K132N	ENSP00000269305:K132N	K	-	3	2	TP53	7519259	1.000000	0.71417	0.994000	0.49952	0.784000	0.44337	1.646000	0.37249	0.804000	0.34136	0.655000	0.94253	AAG		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
KRT17	3872	broad.mit.edu	37	17	39780467	39780467	+	Silent	SNP	G	G	A	rs57674130|rs267607416|rs267607415|rs267607414		TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr17:39780467G>A	ENST00000311208.8	-	1	362	c.295C>T	c.(295-297)Ctg>Ttg	p.L99L	JUP_ENST00000540235.1_Intron|KRT42P_ENST00000438131.1_RNA	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	99	Coil 1A.|Rod.		L -> P (in PC2). {ECO:0000269|PubMed:11886499}.	Missing (in Ref. 5; AAH72018). {ECO:0000305}.	epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)	p.L99L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				ACCTTGTCCAGGTAGGAGGCC	0.637																																					Pancreas(92;1242 2086 39193 50508)											1	Substitution - coding silent(1)	ovary(1)	17	GRCh37	CD012267	KRT17	D							92.0	99.0	97.0					17																	39780467		2203	4298	6501	37033993	SO:0001819	synonymous_variant	3872			X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.295C>T	17.37:g.39780467G>A			37033993	A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Silent	SNP	ENST00000311208.8	37	CCDS11402.1																																																																																				0.637	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422	
TMEM105	284186	broad.mit.edu	37	17	79287664	79287664	+	Silent	SNP	G	G	T			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr17:79287664G>T	ENST00000332900.1	-	3	726	c.177C>A	c.(175-177)tcC>tcA	p.S59S		NM_178520.3	NP_848615.1	Q8N8V8	TM105_HUMAN	transmembrane protein 105	59						integral component of membrane (GO:0016021)		p.S59S(1)		NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			ACCGAGGTGGGGACCCCTGGG	0.627																																																1	Substitution - coding silent(1)	ovary(1)	17											34.0	43.0	40.0					17																	79287664		2200	4298	6498	76902259	SO:0001819	synonymous_variant	284186			AK096111	CCDS11781.1	17q25.3	2008-04-21	2008-04-21	2008-04-21		ENSG00000185332			26794	protein-coding gene	gene with protein product							Standard	NM_178520		Approved	FLJ38792	uc002kad.2	Q8N8V8		ENST00000332900.1:c.177C>A	17.37:g.79287664G>T			76902259		Silent	SNP	ENST00000332900.1	37	CCDS11781.1																																																																																				0.627	TMEM105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439607.1	NM_178520	
LAMA1	284217	broad.mit.edu	37	18	7013922	7013922	+	Silent	SNP	G	G	A	rs375804587		TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr18:7013922G>A	ENST00000389658.3	-	23	3348	c.3255C>T	c.(3253-3255)ccC>ccT	p.P1085P		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1085	Laminin EGF-like 12. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.P1085P(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GAACACAGTCGGGAAAGTCTC	0.612																																																1	Substitution - coding silent(1)	ovary(1)	18						G		0,4406		0,0,2203	58.0	49.0	52.0		3255	-3.2	1.0	18		52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LAMA1	NM_005559.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1085/3076	7013922	1,13005	2203	4300	6503	7003922	SO:0001819	synonymous_variant	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3255C>T	18.37:g.7013922G>A			7003922		Silent	SNP	ENST00000389658.3	37	CCDS32787.1																																																																																				0.612	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
ZNF521	25925	broad.mit.edu	37	18	22805704	22805704	+	Silent	SNP	G	G	A			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr18:22805704G>A	ENST00000361524.3	-	4	2326	c.2178C>T	c.(2176-2178)ctC>ctT	p.L726L	ZNF521_ENST00000584787.1_Silent_p.L506L|ZNF521_ENST00000538137.2_Silent_p.L726L|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	726					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.L726L(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTTCCTGGCAGAGGGTGCAGC	0.458			T	PAX5	ALL																																		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	1	Substitution - coding silent(1)	ovary(1)	18											78.0	79.0	79.0					18																	22805704		2203	4300	6503	21059702	SO:0001819	synonymous_variant	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2178C>T	18.37:g.22805704G>A			21059702	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	CCDS32806.1																																																																																				0.458	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461	
ZNF564	163050	broad.mit.edu	37	19	12638453	12638453	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr19:12638453G>A	ENST00000339282.7	-	4	665	c.469C>T	c.(469-471)Cga>Tga	p.R157*	CTD-2192J16.21_ENST00000601420.1_RNA|ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R157*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TCATGTCTTCGAAAGGATTGA	0.418																																																1	Substitution - Nonsense(1)	ovary(1)	19											105.0	112.0	110.0					19																	12638453		2200	4299	6499	12499453	SO:0001587	stop_gained	163050			BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"""Zinc fingers, C2H2-type"", ""-"""	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.469C>T	19.37:g.12638453G>A	ENSP00000340004:p.Arg157*		12499453	B9EGT4|Q6P1K6	Nonsense_Mutation	SNP	ENST00000339282.7	37	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803077	0.90623	.	.	ENSG00000249709	ENST00000339282	.	.	.	1.71	0.599	0.17519	.	.	.	.	.	.	.	.	.	.	.	0.20975	N	0.999818	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	7.4997	0.27511	0.0:0.2715:0.7285:0.0	.	.	.	.	X	157	.	ENSP00000340004:R157X	R	-	1	2	ZNF564	12499453	0.031000	0.19500	0.005000	0.12908	0.937000	0.57800	-0.367000	0.07553	0.271000	0.22005	0.643000	0.83706	CGA		0.418	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976	
ZFP14	57677	broad.mit.edu	37	19	36832293	36832293	+	Silent	SNP	A	A	G			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr19:36832293A>G	ENST00000270001.7	-	5	550	c.435T>C	c.(433-435)atT>atC	p.I145I		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	145					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I145I(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TTTCAGAGGTAATTTTCACTT	0.383																																																1	Substitution - coding silent(1)	ovary(1)	19											144.0	136.0	139.0					19																	36832293		2203	4300	6503	41524133	SO:0001819	synonymous_variant	57677			AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.435T>C	19.37:g.36832293A>G			41524133	A7MD23	Silent	SNP	ENST00000270001.7	37	CCDS33002.1																																																																																				0.383	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917	
LRPPRC	10128	broad.mit.edu	37	2	44171017	44171017	+	Silent	SNP	C	C	T			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr2:44171017C>T	ENST00000260665.7	-	23	2370	c.2313G>A	c.(2311-2313)ctG>ctA	p.L771L		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	771					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.L771L(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCATCTCCTTCAGAATGTTAA	0.373																																																1	Substitution - coding silent(1)	ovary(1)	2											82.0	83.0	83.0					2																	44171017		2202	4300	6502	44024521	SO:0001819	synonymous_variant	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.2313G>A	2.37:g.44171017C>T			44024521	A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Silent	SNP	ENST00000260665.7	37	CCDS33189.1																																																																																				0.373	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259	
RPS27A	6233	broad.mit.edu	37	2	55462090	55462090	+	Missense_Mutation	SNP	T	T	C			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr2:55462090T>C	ENST00000272317.6	+	5	637	c.313T>C	c.(313-315)Tat>Cat	p.Y105H	RPS27A_ENST00000404735.1_Missense_Mutation_p.Y105H|CLHC1_ENST00000406076.1_5'Flank|CLHC1_ENST00000494539.1_5'Flank|RPS27A_ENST00000402285.3_Missense_Mutation_p.Y105H|CLHC1_ENST00000407122.1_5'Flank|CLHC1_ENST00000401408.1_5'Flank|CLHC1_ENST00000406437.2_5'Flank	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN	ribosomal protein S27a	105					activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|viral transcription (GO:0019083)|virion assembly (GO:0019068)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|small ribosomal subunit (GO:0015935)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.Y105H(1)		cervix(1)|ovary(1)|urinary_tract(1)	3						TGTCCTGAAATATTATAAGGT	0.383																																																1	Substitution - Missense(1)	ovary(1)	2											45.0	43.0	44.0					2																	55462090		2203	4300	6503	55315594	SO:0001583	missense	6233			AB007163	CCDS33202.1	2p16	2011-04-06			ENSG00000143947	ENSG00000143947		"""S ribosomal proteins"""	10417	protein-coding gene	gene with protein product	"""ubiquitin carboxyl extension protein 80"""	191343				9582194	Standard	NM_001135592		Approved	UBCEP80, Uba80, S27A	uc010yow.2	P62979	OTTHUMG00000151919	ENST00000272317.6:c.313T>C	2.37:g.55462090T>C	ENSP00000272317:p.Tyr105His		55315594	P02248|P02249|P02250|P14798|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BQ77|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000272317.6	37	CCDS33202.1	.	.	.	.	.	.	.	.	.	.	T	16.78	3.217190	0.58560	.	.	ENSG00000143947	ENST00000402285;ENST00000272317;ENST00000449323;ENST00000404735	T;T;T;T	0.78246	-1.11;-1.11;-1.16;-1.11	5.01	5.01	0.66863	Ribosomal protein S27a (1);	0.000000	0.85682	D	0.000000	T	0.76169	0.3950	M	0.64630	1.985	0.80722	D	1	B	0.13145	0.007	B	0.20767	0.031	T	0.74469	-0.3655	10	0.59425	D	0.04	.	14.7212	0.69308	0.0:0.0:0.0:1.0	.	105	P62979	RS27A_HUMAN	H	105	ENSP00000383981:Y105H;ENSP00000272317:Y105H;ENSP00000408482:Y105H;ENSP00000385659:Y105H	ENSP00000272317:Y105H	Y	+	1	0	RPS27A	55315594	1.000000	0.71417	0.987000	0.45799	0.944000	0.59088	7.727000	0.84838	1.882000	0.54519	0.477000	0.44152	TAT		0.383	RPS27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324423.15		
ATP9A	10079	broad.mit.edu	37	20	50234046	50234046	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr20:50234046C>T	ENST00000338821.5	-	22	2662	c.2398G>A	c.(2398-2400)Gtg>Atg	p.V800M	ATP9A_ENST00000311637.5_Missense_Mutation_p.V664M|ATP9A_ENST00000402822.1_Missense_Mutation_p.V679M	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	800					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.V800M(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCCACTCCCACGCCGCAGTCA	0.493																																																1	Substitution - Missense(1)	ovary(1)	20											134.0	85.0	102.0					20																	50234046		2203	4300	6503	49667453	SO:0001583	missense	10079			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2398G>A	20.37:g.50234046C>T	ENSP00000342481:p.Val800Met		49667453	E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454708	0.63290	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	D;D;D	0.83673	-1.75;-1.75;-1.75	5.15	5.15	0.70609	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.92743	0.7693	H	0.95645	3.7	0.80722	D	1	D;D	0.58620	0.981;0.983	P;P	0.56398	0.64;0.797	D	0.94957	0.8105	10	0.87932	D	0	-26.5456	18.6016	0.91249	0.0:1.0:0.0:0.0	.	679;800	O75110-2;O75110	.;ATP9A_HUMAN	M	664;800;679	ENSP00000309086:V664M;ENSP00000342481:V800M;ENSP00000385875:V679M	ENSP00000309086:V664M	V	-	1	0	ATP9A	49667453	1.000000	0.71417	0.992000	0.48379	0.225000	0.24961	4.574000	0.60900	2.374000	0.81015	0.511000	0.50034	GTG		0.493	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045	
ATP2B2	491	broad.mit.edu	37	3	10491191	10491191	+	Missense_Mutation	SNP	T	T	C			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr3:10491191T>C	ENST00000352432.4	-	1	106	c.37A>G	c.(37-39)Aac>Gac	p.N13D	ATP2B2_ENST00000343816.4_Missense_Mutation_p.N13D|ATP2B2_ENST00000383800.4_Missense_Mutation_p.N13D|ATP2B2_ENST00000360273.2_Missense_Mutation_p.N13D|ATP2B2_ENST00000397077.1_Missense_Mutation_p.N13D			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	13					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.N13D(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TTTCTTTGGTTTTTGGAGTAA	0.597																																					Ovarian(125;1619 1709 15675 19819 38835)											1	Substitution - Missense(1)	ovary(1)	3											135.0	120.0	125.0					3																	10491191		2203	4300	6503	10466191	SO:0001583	missense	491			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.37A>G	3.37:g.10491191T>C	ENSP00000324172:p.Asn13Asp		10466191	O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.956816	0.73902	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000342354	D;D;D;D;D	0.92048	-2.94;-2.96;-2.96;-2.94;-2.95	4.45	4.45	0.53987	.	0.531524	0.18420	N	0.141791	D	0.94341	0.8181	L	0.60455	1.87	0.43830	D	0.996405	D;B;B	0.61697	0.99;0.02;0.224	D;B;B	0.72982	0.979;0.028;0.071	D	0.93529	0.6868	10	0.46703	T	0.11	-41.0036	11.9674	0.53044	0.0:0.0:0.0:1.0	.	13;25;13	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	D	13	ENSP00000324172:N13D;ENSP00000373311:N13D;ENSP00000380267:N13D;ENSP00000353414:N13D;ENSP00000344677:N13D	ENSP00000342954:N13D	N	-	1	0	ATP2B2	10466191	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.843000	0.86859	1.780000	0.52325	0.379000	0.24179	AAC		0.597	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683	
SKIL	6498	broad.mit.edu	37	3	170110051	170110051	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr3:170110051C>T	ENST00000458537.3	+	6	2610	c.1901C>T	c.(1900-1902)gCa>gTa	p.A634V	SKIL_ENST00000426052.2_Missense_Mutation_p.A614V|SKIL_ENST00000259119.4_Missense_Mutation_p.A634V|SKIL_ENST00000413427.2_Missense_Mutation_p.A588V	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	634					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)	p.A634V(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			ACATAGTTGGCAGAACTGAGG	0.368																																																1	Substitution - Missense(1)	ovary(1)	3											83.0	87.0	86.0					3																	170110051		2203	4300	6503	171592745	SO:0001583	missense	6498			X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"""SKI transcriptional corepressors"""	10897	protein-coding gene	gene with protein product		165340	"""SKI-like oncogene"""			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.1901C>T	3.37:g.170110051C>T	ENSP00000415243:p.Ala634Val		171592745	A6NGT1|B4DT50|O00464|P12756|Q07501	Missense_Mutation	SNP	ENST00000458537.3	37	CCDS33890.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.767602	0.49574	.	.	ENSG00000136603	ENST00000259119;ENST00000426052;ENST00000413427;ENST00000458537	D;D;D;D	0.91521	-2.84;-2.84;-2.86;-2.84	5.89	5.01	0.66863	.	0.240378	0.43260	D	0.000586	D	0.87394	0.6166	L	0.44542	1.39	0.36181	D	0.84944	B;B	0.27971	0.196;0.148	B;B	0.29077	0.098;0.046	D	0.87821	0.2638	10	0.46703	T	0.11	-13.1473	15.4548	0.75305	0.0:0.9326:0.0:0.0674	.	588;634	P12757-3;P12757	.;SKIL_HUMAN	V	634;614;588;634	ENSP00000259119:A634V;ENSP00000406520:A614V;ENSP00000400193:A588V;ENSP00000415243:A634V	ENSP00000259119:A634V	A	+	2	0	SKIL	171592745	1.000000	0.71417	0.996000	0.52242	0.763000	0.43281	4.073000	0.57570	2.793000	0.96121	0.655000	0.94253	GCA		0.368	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	NM_005414	
CEP135	9662	broad.mit.edu	37	4	56865776	56865776	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr4:56865776A>G	ENST00000257287.4	+	17	2369	c.2245A>G	c.(2245-2247)Aag>Gag	p.K749E		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	749					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)	p.K749E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GAAGACAGAAAAGATTGCAAA	0.333																																																1	Substitution - Missense(1)	ovary(1)	4											70.0	78.0	75.0					4																	56865776		2203	4300	6503	56560533	SO:0001583	missense	9662			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.2245A>G	4.37:g.56865776A>G	ENSP00000257287:p.Lys749Glu		56560533	B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.400709	0.42613	.	.	ENSG00000174799	ENST00000257287	T	0.60672	0.17	5.18	2.69	0.31865	.	0.248856	0.47093	D	0.000257	T	0.47820	0.1466	M	0.61703	1.905	0.31832	N	0.624658	B	0.31837	0.342	B	0.36092	0.217	T	0.49652	-0.8917	10	0.05620	T	0.96	.	7.4383	0.27169	0.7817:0.1432:0.0751:0.0	.	749	Q66GS9	CP135_HUMAN	E	749	ENSP00000257287:K749E	ENSP00000257287:K749E	K	+	1	0	CEP135	56560533	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	2.637000	0.46553	0.287000	0.22375	-0.288000	0.09946	AAG		0.333	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009	
SDAD1	55153	broad.mit.edu	37	4	76892517	76892517	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr4:76892517A>G	ENST00000356260.5	-	9	924	c.806T>C	c.(805-807)gTg>gCg	p.V269A	SDAD1_ENST00000513089.1_5'UTR|SDAD1_ENST00000395711.4_Missense_Mutation_p.V232A	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	269					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)		p.V269A(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CACCTTGAGCACTTTCATTGC	0.378																																																1	Substitution - Missense(1)	ovary(1)	4											218.0	194.0	202.0					4																	76892517		2203	4300	6503	77111541	SO:0001583	missense	55153			AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.806T>C	4.37:g.76892517A>G	ENSP00000348596:p.Val269Ala		77111541	Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Missense_Mutation	SNP	ENST00000356260.5	37	CCDS3573.2	.	.	.	.	.	.	.	.	.	.	A	12.21	1.869720	0.33069	.	.	ENSG00000198301	ENST00000356260;ENST00000395711	T;T	0.73469	2.87;-0.75	5.26	5.26	0.73747	Armadillo-type fold (1);	0.182670	0.47852	D	0.000220	T	0.57125	0.2032	N	0.17723	0.515	0.58432	D	0.999998	B;B	0.15141	0.005;0.012	B;B	0.12837	0.008;0.008	T	0.53099	-0.8486	10	0.08381	T	0.77	-11.9602	13.1213	0.59327	1.0:0.0:0.0:0.0	.	232;269	E7EW05;Q9NVU7	.;SDA1_HUMAN	A	269;232	ENSP00000348596:V269A;ENSP00000379061:V232A	ENSP00000348596:V269A	V	-	2	0	SDAD1	77111541	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.312000	0.89976	1.984000	0.57885	0.455000	0.32223	GTG		0.378	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3	NM_018115	
HIVEP1	3096	broad.mit.edu	37	6	12124959	12124959	+	Missense_Mutation	SNP	T	T	A			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr6:12124959T>A	ENST00000379388.2	+	4	5263	c.4931T>A	c.(4930-4932)gTt>gAt	p.V1644D	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1644					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V1644D(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CAGAGTAGTGTTCCTGCTTAC	0.498																																																1	Substitution - Missense(1)	ovary(1)	6											140.0	137.0	138.0					6																	12124959		2084	4224	6308	12232945	SO:0001583	missense	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.4931T>A	6.37:g.12124959T>A	ENSP00000368698:p.Val1644Asp		12232945	B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	T	17.08	3.298134	0.60086	.	.	ENSG00000095951	ENST00000379388	T	0.11821	2.74	5.54	4.37	0.52481	.	0.000000	0.30347	N	0.009840	T	0.10423	0.0255	M	0.78637	2.42	0.37890	D	0.930686	P	0.51351	0.944	B	0.41036	0.346	T	0.04607	-1.0939	9	.	.	.	-12.574	11.5936	0.50959	0.0:0.0711:0.0:0.9289	.	1644	P15822	ZEP1_HUMAN	D	1644	ENSP00000368698:V1644D	.	V	+	2	0	HIVEP1	12232945	0.143000	0.22626	0.004000	0.12327	0.022000	0.10575	2.293000	0.43558	2.097000	0.63578	0.459000	0.35465	GTT		0.498	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114	
DCDC2	51473	broad.mit.edu	37	6	24357707	24357707	+	Missense_Mutation	SNP	T	T	C			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr6:24357707T>C	ENST00000378454.3	-	1	573	c.272A>G	c.(271-273)cAg>cGg	p.Q91R	KAAG1_ENST00000274766.1_5'UTR	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	91	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)			p.Q91R(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GAAGGCTTCCTGGCCTCCAGC	0.577																																																1	Substitution - Missense(1)	ovary(1)	6											48.0	45.0	46.0					6																	24357707		2203	4300	6503	24465686	SO:0001583	missense	51473			AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.272A>G	6.37:g.24357707T>C	ENSP00000367715:p.Gln91Arg		24465686	Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Missense_Mutation	SNP	ENST00000378454.3	37	CCDS4550.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.19|10.19	1.282258|1.282258	0.23392|0.23392	.|.	.|.	ENSG00000146038|ENSG00000146038	ENST00000378454;ENST00000451359|ENST00000436313	D|.	0.91237|.	-2.81|.	5.67|5.67	-1.93|-1.93	0.07594|0.07594	Doublecortin domain (5);|.	0.800688|.	0.11330|.	N|.	0.575147|.	T|T	0.02304|0.02304	0.0071|0.0071	N|N	0.00459|0.00459	-1.475|-1.475	0.80722|0.80722	D|D	1|1	B|.	0.09022|.	0.002|.	B|.	0.12156|.	0.007|.	T|T	0.39014|0.39014	-0.9634|-0.9634	10|5	0.13470|.	T|.	0.59|.	-11.9043|-11.9043	0.4813|0.4813	0.00548|0.00548	0.3446:0.143:0.2987:0.2137|0.3446:0.143:0.2987:0.2137	.|.	91|.	Q9UHG0|.	DCDC2_HUMAN|.	R|G	91|59	ENSP00000367715:Q91R|.	ENSP00000367715:Q91R|.	Q|R	-|-	2|1	0|2	DCDC2|DCDC2	24465686|24465686	0.980000|0.980000	0.34600|0.34600	0.999000|0.999000	0.59377|0.59377	0.941000|0.941000	0.58515|0.58515	0.226000|0.226000	0.17776|0.17776	0.055000|0.055000	0.16094|0.16094	0.533000|0.533000	0.62120|0.62120	CAG|AGG		0.577	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356	
OR5V1	81696	broad.mit.edu	37	6	29323086	29323086	+	Missense_Mutation	SNP	T	T	C			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr6:29323086T>C	ENST00000377154.1	-	4	1186	c.887A>G	c.(886-888)gAc>gGc	p.D296G	OR5V1_ENST00000543825.1_Missense_Mutation_p.D296G			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D296G(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCTTTGATGTCCTTATTCCT	0.378																																					Ovarian(32;43 883 21137 32120 42650)											1	Substitution - Missense(1)	ovary(1)	6											113.0	110.0	111.0					6																	29323086		2203	4300	6503	29431065	SO:0001583	missense	81696				CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"""GPCR / Class A : Olfactory receptors"""	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.887A>G	6.37:g.29323086T>C	ENSP00000366359:p.Asp296Gly		29431065	A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	ENST00000377154.1	37	CCDS4657.1	.	.	.	.	.	.	.	.	.	.	T	18.86	3.714295	0.68730	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.39592	1.07;1.07	4.53	4.53	0.55603	.	0.000000	0.34580	N	0.003844	T	0.46425	0.1392	L	0.49126	1.545	0.46458	D	0.999056	D	0.69078	0.997	P	0.62885	0.908	T	0.51710	-0.8671	10	0.87932	D	0	-25.7631	13.9454	0.64082	0.0:0.0:0.0:1.0	.	296	Q9UGF6	OR5V1_HUMAN	G	296	ENSP00000366359:D296G;ENSP00000443309:D296G	ENSP00000366356:D296G	D	-	2	0	OR5V1	29431065	1.000000	0.71417	0.932000	0.37286	0.634000	0.38068	6.942000	0.75928	2.021000	0.59480	0.443000	0.29094	GAC		0.378	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3		
DAAM2	23500	broad.mit.edu	37	6	39846032	39846032	+	Missense_Mutation	SNP	G	G	A	rs377282686		TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr6:39846032G>A	ENST00000398904.2	+	12	1537	c.1355G>A	c.(1354-1356)cGg>cAg	p.R452Q	DAAM2_ENST00000274867.4_Missense_Mutation_p.R452Q|DAAM2_ENST00000538976.1_Missense_Mutation_p.R452Q			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	452					actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)			p.R452Q(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GAGAAGTTCCGGAAAGGTGAG	0.552																																																1	Substitution - Missense(1)	ovary(1)	6						G	GLN/ARG,GLN/ARG	1,4189		0,1,2094	79.0	89.0	86.0		1355,1355	5.4	1.0	6		86	0,8404		0,0,4202	no	missense,missense	DAAM2	NM_001201427.1,NM_015345.3	43,43	0,1,6296	AA,AG,GG		0.0,0.0239,0.0079	benign,benign	452/1069,452/1068	39846032	1,12593	2095	4202	6297	39954010	SO:0001583	missense	23500			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1355G>A	6.37:g.39846032G>A	ENSP00000381876:p.Arg452Gln		39954010	G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867365	0.91511	2.39E-4	0.0	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.73681	-0.77;-0.77;-0.77	5.45	5.45	0.79879	.	0.346678	0.28659	N	0.014562	T	0.79598	0.4473	L	0.47716	1.5	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.75484	0.986;0.968	T	0.77933	-0.2402	10	0.41790	T	0.15	.	18.8758	0.92334	0.0:0.0:1.0:0.0	.	452;452	G5EA45;Q86T65	.;DAAM2_HUMAN	Q	452	ENSP00000274867:R452Q;ENSP00000381876:R452Q;ENSP00000437808:R452Q	ENSP00000274867:R452Q	R	+	2	0	DAAM2	39954010	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.822000	0.99363	2.555000	0.86185	0.655000	0.94253	CGG		0.552	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1		
DNAH11	8701	broad.mit.edu	37	7	21912912	21912912	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr7:21912912G>C	ENST00000409508.3	+	74	12019	c.11988G>C	c.(11986-11988)aaG>aaC	p.K3996N	DNAH11_ENST00000328843.6_Missense_Mutation_p.K4003N	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4003	AAA 6. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K4003N(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGGTAGCCAAGTGGCTAGGAA	0.408									Kartagener syndrome																																							1	Substitution - Missense(1)	ovary(1)	7											34.0	33.0	33.0					7																	21912912		1885	4111	5996	21879437	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.11988G>C	7.37:g.21912912G>C	ENSP00000475939:p.Lys3996Asn		21879437	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	G	15.47	2.844302	0.51164	.	.	ENSG00000105877	ENST00000328843	T	0.09255	3.0	5.78	1.82	0.25136	Dynein heavy chain (1);	0.317119	0.33854	N	0.004490	T	0.19127	0.0459	.	.	.	0.44908	D	0.997924	D	0.67145	0.996	P	0.61658	0.892	T	0.02574	-1.1139	9	0.31617	T	0.26	.	6.0514	0.19787	0.2727:0.1237:0.6037:0.0	.	4003	Q96DT5	DYH11_HUMAN	N	4003	ENSP00000330671:K4003N	ENSP00000330671:K4003N	K	+	3	2	DNAH11	21879437	0.992000	0.36948	1.000000	0.80357	0.998000	0.95712	0.384000	0.20668	0.330000	0.23485	0.650000	0.86243	AAG		0.408	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
AUTS2	26053	broad.mit.edu	37	7	70236588	70236588	+	Silent	SNP	C	C	T			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr7:70236588C>T	ENST00000342771.4	+	11	2109	c.1788C>T	c.(1786-1788)ccC>ccT	p.P596P	AUTS2_ENST00000406775.2_Silent_p.P596P	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	596								p.P596P(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TGATCCCACCCACTGGCCCTT	0.532																																																1	Substitution - coding silent(1)	ovary(1)	7											118.0	103.0	108.0					7																	70236588		2203	4300	6503	69874524	SO:0001819	synonymous_variant	26053			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1788C>T	7.37:g.70236588C>T			69874524	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Silent	SNP	ENST00000342771.4	37	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	C	8.397	0.841132	0.16891	.	.	ENSG00000158321	ENST00000443672	T	0.47869	0.83	5.64	4.57	0.56435	.	0.094705	0.85682	D	0.000000	T	0.45915	0.1366	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35375	-0.9791	6	.	.	.	-15.2841	6.0174	0.19611	0.2174:0.5911:0.1142:0.0774	.	.	.	.	L	123	ENSP00000393548:P123L	.	P	+	2	0	AUTS2	69874524	0.947000	0.32204	1.000000	0.80357	0.956000	0.61745	0.060000	0.14342	2.669000	0.90835	0.650000	0.86243	CCA		0.532	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2		
COL1A2	1278	broad.mit.edu	37	7	94052392	94052392	+	Missense_Mutation	SNP	G	G	A	rs112697991		TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr7:94052392G>A	ENST00000297268.6	+	40	2998	c.2527G>A	c.(2527-2529)Gct>Act	p.A843T		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	843			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.A843T(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCCTGGCTTCGCTGGTGAGAA	0.527										HNSCC(75;0.22)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		16689	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	7						G	THR/ALA	0,4406		0,0,2203	128.0	121.0	123.0		2527	-1.0	0.9	7	dbSNP_132	123	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL1A2	NM_000089.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	843/1367	94052392	1,13005	2203	4300	6503	93890328	SO:0001583	missense	1278			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2527G>A	7.37:g.94052392G>A	ENSP00000297268:p.Ala843Thr		93890328	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	CCDS34682.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.56	2.870574	0.51588	0.0	1.16E-4	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.93426	-3.22	5.23	-1.03	0.10102	.	0.591070	0.17334	N	0.178009	D	0.83672	0.5305	N	0.16833	0.445	0.20196	N	0.99992	B	0.02656	0.0	B	0.04013	0.001	T	0.72821	-0.4177	10	0.56958	D	0.05	.	5.7653	0.18224	0.4096:0.2333:0.357:0.0	.	843	P08123	CO1A2_HUMAN	T	843;844	ENSP00000297268:A843T	ENSP00000297268:A843T	A	+	1	0	COL1A2	93890328	0.000000	0.05858	0.927000	0.36925	0.950000	0.60333	-2.788000	0.00768	-0.177000	0.10690	0.563000	0.77884	GCT		0.527	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089	
TMEM168	64418	broad.mit.edu	37	7	112407693	112407693	+	Silent	SNP	A	A	C			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr7:112407693A>C	ENST00000312814.6	-	5	2213	c.1653T>G	c.(1651-1653)ccT>ccG	p.P551P	TMEM168_ENST00000454074.1_Silent_p.P551P	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	551						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)		p.P551P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						CTTTCACCCAAGGGGTTGAAT	0.413																																																1	Substitution - coding silent(1)	ovary(1)	7											78.0	81.0	80.0					7																	112407693		2203	4300	6503	112194929	SO:0001819	synonymous_variant	64418				CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1653T>G	7.37:g.112407693A>C			112194929	A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Silent	SNP	ENST00000312814.6	37	CCDS5757.1																																																																																				0.413	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484	
PDP1	54704	broad.mit.edu	37	8	94935840	94935840	+	Missense_Mutation	SNP	T	T	G			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr8:94935840T>G	ENST00000297598.4	+	2	1822	c.1553T>G	c.(1552-1554)aTt>aGt	p.I518S	PDP1_ENST00000396200.3_Missense_Mutation_p.I543S|PDP1_ENST00000520728.1_Missense_Mutation_p.I518S|PDP1_ENST00000517764.1_Missense_Mutation_p.I518S	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	518					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.I518S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						AGAGATGACATTACAATCATT	0.423																																																1	Substitution - Missense(1)	ovary(1)	8											98.0	91.0	94.0					8																	94935840		2203	4300	6503	95005016	SO:0001583	missense	54704			AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9279	protein-coding gene	gene with protein product		605993	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit"""	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.1553T>G	8.37:g.94935840T>G	ENSP00000297598:p.Ile518Ser		95005016	B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	ENST00000297598.4	37	CCDS6259.1	.	.	.	.	.	.	.	.	.	.	T	17.44	3.390532	0.62066	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000517764	T;T;T;T	0.13089	2.62;2.62;2.62;2.62	6.17	6.17	0.99709	Protein phosphatase 2C-like (4);	0.000000	0.85682	D	0.000000	T	0.41994	0.1183	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.34925	-0.9809	10	0.87932	D	0	-19.8909	16.8222	0.85835	0.0:0.0:0.0:1.0	.	569;518	B4DYX8;Q9P0J1	.;PDP1_HUMAN	S	518;518;543;518	ENSP00000297598:I518S;ENSP00000428317:I518S;ENSP00000379503:I543S;ENSP00000430380:I518S	ENSP00000297598:I518S	I	+	2	0	PDP1	95005016	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.671000	0.83941	2.371000	0.80710	0.533000	0.62120	ATT		0.423	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444	
FER1L6	654463	broad.mit.edu	37	8	125115513	125115513	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr8:125115513G>A	ENST00000522917.1	+	39	5458	c.5252G>A	c.(5251-5253)cGt>cAt	p.R1751H	FER1L6_ENST00000399018.1_Missense_Mutation_p.R1751H|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1751						integral component of membrane (GO:0016021)		p.R1751H(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAACGTGTGCGTGGCTGGTGG	0.483																																																1	Substitution - Missense(1)	ovary(1)	8											138.0	134.0	135.0					8																	125115513		1925	4149	6074	125184694	SO:0001583	missense	654463			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.5252G>A	8.37:g.125115513G>A	ENSP00000428280:p.Arg1751His		125184694		Missense_Mutation	SNP	ENST00000522917.1	37	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218563	0.79464	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.82526	-1.62;-1.62	5.58	5.58	0.84498	.	0.056479	0.64402	U	0.000002	D	0.91257	0.7244	M	0.74881	2.28	0.45634	D	0.998561	D	0.89917	1.0	D	0.79108	0.992	D	0.91169	0.4967	10	0.62326	D	0.03	-19.1959	19.9313	0.97120	0.0:0.0:1.0:0.0	.	1751	Q2WGJ9	FR1L6_HUMAN	H	1751	ENSP00000428280:R1751H;ENSP00000381982:R1751H	ENSP00000381982:R1751H	R	+	2	0	FER1L6	125184694	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.311000	0.51919	2.778000	0.95560	0.655000	0.94253	CGT		0.483	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	
NEK6	10783	broad.mit.edu	37	9	127110067	127110067	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr9:127110067A>G	ENST00000320246.5	+	9	942	c.797A>G	c.(796-798)tAc>tGc	p.Y266C	NEK6_ENST00000373600.3_Missense_Mutation_p.Y300C|NEK6_ENST00000545174.1_Missense_Mutation_p.Y266C|NEK6_ENST00000546191.1_Missense_Mutation_p.Y266C|NEK6_ENST00000540326.1_Missense_Mutation_p.Y284C|AL137846.1_ENST00000583657.1_RNA|NEK6_ENST00000373603.1_Missense_Mutation_p.Y266C|NEK6_ENST00000394199.2_Missense_Mutation_p.Y300C|NEK6_ENST00000539416.1_Missense_Mutation_p.Y291C	NM_014397.5	NP_055212.2	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	266	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cellular senescence (GO:2000772)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.Y259C(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						CAGTGTGACTACCCCCCACTC	0.617																																					NSCLC(122;934 1785 18647 44295 45571)											1	Substitution - Missense(1)	ovary(1)	9											136.0	140.0	139.0					9																	127110067		2203	4300	6503	126149888	SO:0001583	missense	10783			AF087909	CCDS6854.1, CCDS48015.1, CCDS55338.1, CCDS55339.1	9q33.3-q34.11	2012-11-15	2012-11-15		ENSG00000119408	ENSG00000119408			7749	protein-coding gene	gene with protein product	"""putative serine-threonine protein kinase"""	604884	"""NIMA (never in mitosis gene a)-related kinase 6"""			10702691	Standard	NM_001145001		Approved	SID6-1512	uc004boh.3	Q9HC98	OTTHUMG00000020650	ENST00000320246.5:c.797A>G	9.37:g.127110067A>G	ENSP00000319734:p.Tyr266Cys		126149888	B7Z2D9|Q5TBG3|Q5TBG9|Q6FG86|Q6IAR3|Q96E83|Q9ULX2	Missense_Mutation	SNP	ENST00000320246.5	37	CCDS6854.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.455149	0.63401	.	.	ENSG00000119408	ENST00000373603;ENST00000540326;ENST00000373600;ENST00000320246;ENST00000373601;ENST00000545174;ENST00000454453;ENST00000394199;ENST00000546191;ENST00000539416	T;T;T;T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;1.0;-0.17;-0.17;-0.17	5.03	5.03	0.67393	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76543	0.4002	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.994;0.986;0.988;0.986	T	0.79087	-0.1947	10	0.66056	D	0.02	.	14.1149	0.65146	1.0:0.0:0.0:0.0	.	291;300;266;284	Q9HC98-4;Q9HC98-2;Q9HC98;Q9HC98-3	.;.;NEK6_HUMAN;.	C	266;284;300;266;198;266;198;300;266;291	ENSP00000362705:Y266C;ENSP00000441469:Y284C;ENSP00000362702:Y300C;ENSP00000319734:Y266C;ENSP00000442636:Y266C;ENSP00000405215:Y198C;ENSP00000377749:Y300C;ENSP00000441426:Y266C;ENSP00000439651:Y291C	ENSP00000319734:Y266C	Y	+	2	0	NEK6	126149888	1.000000	0.71417	1.000000	0.80357	0.296000	0.27459	8.742000	0.91588	2.118000	0.64928	0.533000	0.62120	TAC		0.617	NEK6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054016.1	NM_014397	
NUP214	8021	broad.mit.edu	37	9	134108873	134108873	+	Silent	SNP	G	G	A			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr9:134108873G>A	ENST00000359428.5	+	36	6416	c.6272G>A	c.(6271-6273)tGa>tAa	p.*2091*	NUP214_ENST00000451030.1_Silent_p.*2092*|NUP214_ENST00000411637.2_Silent_p.*2081*|NUP214_ENST00000483497.2_Silent_p.*917*			P35658	NU214_HUMAN	nucleoporin 214kDa	0					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)	p.*2091*(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TGGCGAAGCTGAGGGCGTGTC	0.597			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	1	Substitution - coding silent(1)	ovary(1)	9											92.0	71.0	78.0					9																	134108873		2203	4300	6503	133098694	SO:0001819	synonymous_variant	8021			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.6272G>A	9.37:g.134108873G>A			133098694	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Silent	SNP	ENST00000359428.5	37	CCDS6940.1																																																																																				0.597	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085	
RBM41	55285	broad.mit.edu	37	X	106312507	106312507	+	Silent	SNP	G	G	A			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chrX:106312507G>A	ENST00000372479.3	-	6	1083	c.1053C>T	c.(1051-1053)ggC>ggT	p.G351G	RBM41_ENST00000372487.1_Silent_p.G351G	NM_018301.3	NP_060771.3	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	351	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.G351G(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						TAAAAGCCTGGCCCCTCATTC	0.443																																																1	Substitution - coding silent(1)	ovary(1)	X											145.0	131.0	136.0					X																	106312507		2203	4300	6503	106199163	SO:0001819	synonymous_variant	55285			BC006986	CCDS14526.1, CCDS55472.1	Xq22.3	2013-02-12			ENSG00000089682	ENSG00000089682		"""RNA binding motif (RRM) containing"""	25617	protein-coding gene	gene with protein product						12477932	Standard	NM_001171080		Approved	FLJ11016	uc004emz.3	Q96IZ5	OTTHUMG00000022156	ENST00000372479.3:c.1053C>T	X.37:g.106312507G>A			106199163	Q5JSN7|Q5JSN8|Q9H8F7|Q9NV04	Silent	SNP	ENST00000372479.3	37	CCDS14526.1																																																																																				0.443	RBM41-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057819.1	NM_018301	
SLITRK2	84631	broad.mit.edu	37	X	144904007	144904007	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chrX:144904007C>T	ENST00000370490.1	+	1	4319	c.64C>T	c.(64-66)Cgc>Tgc	p.R22C	SLITRK2_ENST00000413937.2_Missense_Mutation_p.R22C|SLITRK2_ENST00000447897.2_Missense_Mutation_p.R22C|SLITRK2_ENST00000428560.2_Missense_Mutation_p.R22C|SLITRK2_ENST00000434188.2_Missense_Mutation_p.R22C			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	22					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.R22C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GACAGAGAGTCGCAAAACTGC	0.468																																																1	Substitution - Missense(1)	ovary(1)	X											74.0	65.0	68.0					X																	144904007		2203	4300	6503	144711699	SO:0001583	missense	84631			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.64C>T	X.37:g.144904007C>T	ENSP00000359521:p.Arg22Cys		144711699	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.105992	0.77096	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.52754	0.7;0.65;0.65;0.65;0.65;0.65	4.56	4.56	0.56223	.	0.135690	0.45867	U	0.000324	T	0.53965	0.1829	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	P	0.61722	0.893	T	0.51996	-0.8634	10	0.36615	T	0.2	-5.6787	13.8997	0.63794	0.0:1.0:0.0:0.0	.	22	Q9H156	SLIK2_HUMAN	C	22	ENSP00000334374:R22C;ENSP00000411681:R22C;ENSP00000359521:R22C;ENSP00000397015:R22C;ENSP00000407347:R22C;ENSP00000412010:R22C	ENSP00000334374:R22C	R	+	1	0	SLITRK2	144711699	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.493000	0.60341	1.846000	0.53633	0.436000	0.28706	CGC		0.468	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539	
