#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_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_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_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	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
HBE1	3046	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	5291062	5291062	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr11:5291062T>C	ENST00000380237.1	-	3	403	c.59A>G	c.(58-60)aAt>aGt	p.N20S	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000292896.2_Missense_Mutation_p.N20S			P02100	HBE_HUMAN	hemoglobin, epsilon 1	20					blood coagulation (GO:0007596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein heterooligomerization (GO:0051291)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTTCCACATTCATCTTGCT	0.507																																																0													112.0	100.0	104.0					11																	5291062		2201	4297	6498	SO:0001583	missense	3046			BC015537	CCDS7756.1	11p15.5	2012-10-02			ENSG00000213931	ENSG00000213931			4830	protein-coding gene	gene with protein product		142100				2649166	Standard	NM_005330		Approved	HBE	uc001mal.1	P02100	OTTHUMG00000066675	ENST00000380237.1:c.59A>G	11.37:g.5291062T>C	ENSP00000369586:p.Asn20Ser		Q6FH44	Missense_Mutation	SNP	ENST00000380237.1	37	CCDS7756.1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.116882	0.37339	.	.	ENSG00000213931	ENST00000380237;ENST00000292896;ENST00000396895	D;D;D	0.86432	-2.12;-2.12;-2.12	5.81	5.81	0.92471	Globin-like (1);Globin, structural domain (1);	0.386853	0.24846	U	0.035121	D	0.87047	0.6080	M	0.75150	2.29	0.37410	D	0.913215	B	0.34226	0.443	B	0.32533	0.147	D	0.89344	0.3656	10	0.72032	D	0.01	-28.8681	14.988	0.71362	0.0:0.0:0.0:1.0	.	20	P02100	HBE_HUMAN	S	20	ENSP00000369586:N20S;ENSP00000292896:N20S;ENSP00000380104:N20S	ENSP00000292896:N20S	N	-	2	0	HBE1	5247638	0.093000	0.21703	1.000000	0.80357	0.322000	0.28314	2.178000	0.42519	2.224000	0.72417	0.477000	0.44152	AAT		0.507	HBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142973.2	NM_005330		19	23	19	23
TSPAN18	90139	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	44948236	44948236	+	Silent	SNP	G	G	C	rs149091051	byFrequency	TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr11:44948236G>C	ENST00000520358.2	+	9	1042	c.627G>C	c.(625-627)acG>acC	p.T209T	TSPAN18_ENST00000340160.3_Silent_p.T209T			Q96SJ8	TSN18_HUMAN	tetraspanin 18	209						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(6)|lung(3)	10						GCTGTTACACGGTGATCCTCA	0.587											OREG0020922	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													238.0	200.0	213.0					11																	44948236		2203	4299	6502	SO:0001819	synonymous_variant	90139			AY358087	CCDS7910.1	11p11.2	2013-02-14				ENSG00000157570		"""Tetraspanins"""	20660	protein-coding gene	gene with protein product						11756464	Standard	NM_130783		Approved	TSPAN	uc001mye.4	Q96SJ8		ENST00000520358.2:c.627G>C	11.37:g.44948236G>C		927	Q6UY44|Q8NBI9	Silent	SNP	ENST00000520358.2	37	CCDS7910.1	.	.	.	.	.	.	.	.	.	.	G	0.026	-1.371943	0.01214	.	.	ENSG00000157570	ENST00000518429	.	.	.	4.54	-9.07	0.00724	.	.	.	.	.	T	0.31638	0.0803	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50457	-0.8826	4	.	.	.	.	0.3248	0.00309	0.3227:0.2488:0.1603:0.2682	.	.	.	.	R	213	.	.	G	+	1	0	TSPAN18	44904812	0.000000	0.05858	0.049000	0.19019	0.145000	0.21501	-4.768000	0.00188	-4.166000	0.00068	-1.510000	0.00946	GGT		0.587	TSPAN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376197.3	NM_130783		68	107	68	107
P2RY2	5029	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	72945405	72945405	+	Silent	SNP	G	G	A	rs543772574		TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr11:72945405G>A	ENST00000311131.2	+	3	668	c.201G>A	c.(199-201)gcG>gcA	p.A67A	P2RY2_ENST00000393597.2_Silent_p.A67A|P2RY2_ENST00000393596.2_Silent_p.A67A	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	67					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CCTGGAATGCGTCCACCACAT	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		18856	0.0		0.0	False		,,,				2504	0.001															0													204.0	165.0	178.0					11																	72945405		2200	4293	6493	SO:0001819	synonymous_variant	5029			U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.201G>A	11.37:g.72945405G>A			B2R9W3|Q96EM8	Silent	SNP	ENST00000311131.2	37	CCDS8219.1																																																																																				0.612	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		19	40	19	40
DYNC2H1	79659	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	102984404	102984404	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr11:102984404G>A	ENST00000375735.2	+	2	478	c.334G>A	c.(334-336)Gta>Ata	p.V112I	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.V112I|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.V112I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	112	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTACCAAGCAGTACGGCAAGT	0.328																																																0													117.0	107.0	110.0					11																	102984404		1844	4089	5933	SO:0001583	missense	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.334G>A	11.37:g.102984404G>A	ENSP00000364887:p.Val112Ile		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004395	0.54254	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.35605	1.62;1.3;1.62	6.17	5.25	0.73442	.	0.236689	0.26812	U	0.022364	T	0.40570	0.1122	M	0.77103	2.36	0.48571	D	0.999671	B;B;B	0.23377	0.084;0.024;0.072	B;B;B	0.24394	0.05;0.031;0.053	T	0.28808	-1.0032	10	0.46703	T	0.11	.	11.5015	0.50441	0.0652:0.0:0.8107:0.1241	.	112;112;112	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	I	112	ENSP00000364887:V112I;ENSP00000334021:V112I;ENSP00000381167:V112I	ENSP00000334021:V112I	V	+	1	0	DYNC2H1	102489614	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	3.310000	0.51911	2.941000	0.99782	0.655000	0.94253	GTA		0.328	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		23	39	23	39
PDZD3	79849	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	119059739	119059739	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr11:119059739G>A	ENST00000531114.1	+	8	2060	c.1511G>A	c.(1510-1512)cGg>cAg	p.R504Q	PDZD3_ENST00000322712.4_Missense_Mutation_p.R424Q|PDZD3_ENST00000392817.2_Missense_Mutation_p.R504Q|PDZD3_ENST00000525131.1_Missense_Mutation_p.R425Q|PDZD3_ENST00000355547.5_Missense_Mutation_p.R438Q			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	504	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cGMP-mediated signaling (GO:0019934)|ion transport (GO:0006811)|negative regulation of cGMP biosynthetic process (GO:0030827)|negative regulation of guanylate cyclase activity (GO:0031283)|receptor guanylyl cyclase signaling pathway (GO:0007168)|response to toxic substance (GO:0009636)|water transport (GO:0006833)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|subapical complex (GO:0035003)	guanylate cyclase inhibitor activity (GO:0030251)|ion channel inhibitor activity (GO:0008200)|protein C-terminus binding (GO:0008022)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		TCAGCTGCCCGGGCTGGGCTG	0.607																																																0													61.0	65.0	63.0					11																	119059739		2200	4295	6495	SO:0001583	missense	79849			AK091966	CCDS8417.1, CCDS53719.1	11q23.3	2008-02-05	2006-01-24	2006-01-24	ENSG00000172367	ENSG00000172367			19891	protein-coding gene	gene with protein product		607146	"""PDZ domain containing 2"""	PDZK2		11950846	Standard	NM_024791		Approved	FLJ22756, IKEPP	uc001pvz.3	Q86UT5	OTTHUMG00000166224	ENST00000531114.1:c.1511G>A	11.37:g.119059739G>A	ENSP00000431164:p.Arg504Gln		Q8N6R4|Q8NAW7|Q8NEX7|Q9H5Z3	Missense_Mutation	SNP	ENST00000531114.1	37		.	.	.	.	.	.	.	.	.	.	G	13.39	2.222383	0.39300	.	.	ENSG00000172367	ENST00000525131;ENST00000531114;ENST00000355547;ENST00000322712;ENST00000454065;ENST00000392817	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	4.96	-0.47	0.12131	PDZ/DHR/GLGF (4);	0.169164	0.39544	N	0.001323	T	0.11750	0.0286	N	0.25485	0.75	0.26184	N	0.979683	P;B;B;P	0.43169	0.8;0.393;0.451;0.507	B;B;B;B	0.33295	0.161;0.071;0.04;0.062	T	0.19582	-1.0301	10	0.23891	T	0.37	-6.4321	1.5722	0.02617	0.3301:0.1399:0.4021:0.1279	.	425;504;438;424	E9PPZ1;Q86UT5;Q86UT5-2;B0YJ61	.;NHRF4_HUMAN;.;.	Q	425;504;438;424;438;504	ENSP00000434559:R425Q;ENSP00000431164:R504Q;ENSP00000347742:R438Q;ENSP00000327107:R424Q;ENSP00000376564:R504Q	ENSP00000327107:R424Q	R	+	2	0	PDZD3	118564949	0.000000	0.05858	0.964000	0.40570	0.946000	0.59487	-1.232000	0.02936	-0.097000	0.12307	0.561000	0.74099	CGG		0.607	PDZD3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388471.1	NM_024791		51	72	51	72
SP7	121340	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	53722415	53722415	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr12:53722415C>T	ENST00000536324.2	-	3	1094	c.811G>A	c.(811-813)Gac>Aac	p.D271N	SP7_ENST00000303846.3_Missense_Mutation_p.D271N|SP7_ENST00000537210.2_Missense_Mutation_p.D253N	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	271					hematopoietic stem cell differentiation (GO:0060218)|osteoblast differentiation (GO:0001649)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						TTAGGGCAGTCGCAGGAGGAG	0.662																																																0													24.0	29.0	27.0					12																	53722415		2084	4217	6301	SO:0001583	missense	121340			AF477981	CCDS44897.1, CCDS73475.1	12q13.13	2013-01-08				ENSG00000170374		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	17321	protein-coding gene	gene with protein product		606633				11792318	Standard	NM_152860		Approved	osterix, OSX	uc001sct.3	Q8TDD2		ENST00000536324.2:c.811G>A	12.37:g.53722415C>T	ENSP00000443827:p.Asp271Asn		B3KY26|Q3MJ72|Q7Z718	Missense_Mutation	SNP	ENST00000536324.2	37	CCDS44897.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245505	0.59103	.	.	ENSG00000170374	ENST00000536324;ENST00000303846;ENST00000537210;ENST00000547755	T;T;T;T	0.60299	3.03;3.03;3.06;0.2	3.68	3.68	0.42216	.	0.000000	0.85682	D	0.000000	T	0.48589	0.1508	L	0.35249	1.045	0.58432	D	0.999996	P	0.38335	0.627	B	0.38106	0.265	T	0.58707	-0.7589	10	0.72032	D	0.01	.	15.0576	0.71927	0.0:1.0:0.0:0.0	.	271	Q8TDD2	SP7_HUMAN	N	271;271;253;253	ENSP00000443827:D271N;ENSP00000302812:D271N;ENSP00000441367:D253N;ENSP00000449355:D253N	ENSP00000302812:D271N	D	-	1	0	SP7	52008682	0.982000	0.34865	0.991000	0.47740	0.229000	0.25112	2.585000	0.46111	2.010000	0.58986	0.313000	0.20887	GAC		0.662	SP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406917.1			14	14	14	14
ATXN2	6311	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	111908030	111908030	+	Silent	SNP	A	A	G			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr12:111908030A>G	ENST00000377617.3	-	20	3359	c.3198T>C	c.(3196-3198)taT>taC	p.Y1066Y	ATXN2_ENST00000608853.1_Silent_p.Y906Y|ATXN2_ENST00000535949.1_Silent_p.Y777Y|ATXN2_ENST00000389153.4_Silent_p.Y803Y|ATXN2_ENST00000542287.2_Silent_p.Y801Y|ATXN2_ENST00000550104.1_3'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1066	Pro-rich.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TTACAGGACTATAGACATGAG	0.418																																																0													149.0	125.0	133.0					12																	111908030		2203	4300	6503	SO:0001819	synonymous_variant	6311			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.3198T>C	12.37:g.111908030A>G			A6NLD4|Q6ZQZ7|Q99493	Silent	SNP	ENST00000377617.3	37	CCDS31902.1																																																																																				0.418	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		33	57	33	57
SYT16	83851	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	62547859	62547859	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr14:62547859G>A	ENST00000430451.2	+	4	1498	c.1301G>A	c.(1300-1302)cGc>cAc	p.R434H	RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	434	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TGTGCTGTCCGCTTCCGCCTG	0.572																																																0													33.0	37.0	36.0					14																	62547859		2179	4289	6468	SO:0001583	missense	83851			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1301G>A	14.37:g.62547859G>A	ENSP00000394700:p.Arg434His		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005106	0.74932	.	.	ENSG00000139973	ENST00000430451	T	0.68624	-0.34	4.96	4.07	0.47477	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.055212	0.64402	D	0.000001	T	0.70753	0.3260	L	0.31157	0.91	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.66945	-0.5795	10	0.30854	T	0.27	-30.5378	14.2484	0.66004	0.0754:0.0:0.9246:0.0	.	434	Q17RD7	SYT16_HUMAN	H	434	ENSP00000394700:R434H	ENSP00000394700:R434H	R	+	2	0	SYT16	61617612	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.695000	0.84257	2.731000	0.93534	0.650000	0.86243	CGC		0.572	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		15	19	15	19
SYT16	83851	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	62567163	62567163	+	Missense_Mutation	SNP	G	G	A	rs376542046		TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr14:62567163G>A	ENST00000430451.2	+	6	1873	c.1676G>A	c.(1675-1677)cGt>cAt	p.R559H	RP11-355I22.2_ENST00000554252.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	559	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GAGATGTCCCGTTGCAAGACG	0.458													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20804	0.0		0.0	False		,,,				2504	0.0															0								G	HIS/ARG	1,3849		0,1,1924	66.0	60.0	62.0		1676	3.8	1.0	14		62	2,8230		0,2,4114	no	missense	SYT16	NM_031914.2	29	0,3,6038	AA,AG,GG		0.0243,0.026,0.0248	probably-damaging	559/646	62567163	3,12079	1925	4116	6041	SO:0001583	missense	83851			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1676G>A	14.37:g.62567163G>A	ENSP00000394700:p.Arg559His		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447922	0.63178	2.6E-4	2.43E-4	ENSG00000139973	ENST00000430451	T	0.70986	-0.53	5.61	3.77	0.43336	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.67097	0.2857	L	0.53617	1.68	0.80722	D	1	B	0.30439	0.279	B	0.34931	0.192	T	0.69457	-0.5140	10	0.66056	D	0.02	-6.5246	11.8315	0.52299	0.1417:0.0:0.8583:0.0	.	559	Q17RD7	SYT16_HUMAN	H	559	ENSP00000394700:R559H	ENSP00000394700:R559H	R	+	2	0	SYT16	61636916	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.878000	0.56130	1.358000	0.45922	0.655000	0.94253	CGT		0.458	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		13	17	13	17
AHNAK2	113146	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	105420969	105420969	+	Silent	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr14:105420969C>T	ENST00000333244.5	-	7	938	c.819G>A	c.(817-819)ccG>ccA	p.P273P	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	273						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTGGGGTCCCGGCCCCCGCT	0.592																																																0													31.0	33.0	32.0					14																	105420969		1994	4141	6135	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.819G>A	14.37:g.105420969C>T			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		9	9	9	9
CREBBP	1387	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	3781317	3781317	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr16:3781317C>G	ENST00000262367.5	-	30	5857	c.5048G>C	c.(5047-5049)cGc>cCc	p.R1683P	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1645P	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1683	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R1683H(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCACTTGGAGCGGCGCAAGGA	0.642			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	1	Substitution - Missense(1)	large_intestine(1)											87.0	61.0	70.0					16																	3781317		2197	4300	6497	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.5048G>C	16.37:g.3781317C>G	ENSP00000262367:p.Arg1683Pro		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	c	17.92	3.507872	0.64410	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.92805	-3.11;-3.01	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.97377	0.9142	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.995	D	0.97709	1.0189	10	0.87932	D	0	-23.6306	20.2192	0.98319	0.0:1.0:0.0:0.0	.	1713;1683	Q4LE28;Q92793	.;CBP_HUMAN	P	1683;1713;1645;218	ENSP00000262367:R1683P;ENSP00000371502:R1645P	ENSP00000262367:R1683P	R	-	2	0	CREBBP	3721318	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.818000	0.86416	2.780000	0.95670	0.655000	0.94253	CGC		0.642	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		13	7	13	7
SPPL2C	162540	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	43922344	43922344	+	Silent	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr17:43922344C>T	ENST00000329196.5	+	1	89	c.72C>T	c.(70-72)taC>taT	p.Y24Y	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000581125.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	24						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)	p.Y24Y(1)									GGGGAAAGTACGGCGTGGCCC	0.622																																																1	Substitution - coding silent(1)	large_intestine(1)											96.0	80.0	86.0					17																	43922344		2203	4300	6503	SO:0001819	synonymous_variant	162540				CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"""intramembrane protease 5"""	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.72C>T	17.37:g.43922344C>T			Q8TC67|Q8WVZ6	Silent	SNP	ENST00000329196.5	37	CCDS32673.1																																																																																				0.622	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1	NM_175882		20	24	20	24
TYK2	7297	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	10465220	10465220	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr19:10465220G>A	ENST00000525621.1	-	19	3164	c.2683C>T	c.(2683-2685)Cgc>Tgc	p.R895C	TYK2_ENST00000524462.1_Missense_Mutation_p.R710C|TYK2_ENST00000264818.6_Missense_Mutation_p.R895C|TYK2_ENST00000529422.1_5'Flank	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	895					cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TTCAAATAGCGCTTGTGGAAA	0.577																																																0													70.0	73.0	72.0					19																	10465220		2203	4300	6503	SO:0001583	missense	7297				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2683C>T	19.37:g.10465220G>A	ENSP00000431885:p.Arg895Cys		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825212	0.90955	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792	D;D;D	0.89485	-2.52;-2.52;-2.52	5.45	5.45	0.79879	Protein kinase-like domain (1);	0.000000	0.53938	D	0.000051	D	0.90631	0.7062	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92066	0.5660	10	0.87932	D	0	-41.2063	16.7626	0.85516	0.0:0.0:1.0:0.0	.	895	P29597	TYK2_HUMAN	C	710;895;895;642	ENSP00000433203:R710C;ENSP00000431885:R895C;ENSP00000264818:R895C	ENSP00000264818:R895C	R	-	1	0	TYK2	10326220	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	4.888000	0.63164	2.574000	0.86865	0.655000	0.94253	CGC		0.577	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			17	51	17	51
PSMC4	5704	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	40480518	40480518	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr19:40480518C>T	ENST00000157812.2	+	5	755	c.557C>T	c.(556-558)aCg>aTg	p.T186M	PSMC4_ENST00000455878.2_Missense_Mutation_p.T155M	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	186					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)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTCCCGCTCACGCATTTCGAG	0.627																																					Colon(105;1478 1543 4034 6132 38638)											0													54.0	59.0	57.0					19																	40480518		2203	4300	6503	SO:0001583	missense	5704			U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9551	protein-coding gene	gene with protein product	"""protease 26S subunit 6"", ""Tat-binding protein 7"", ""MB67 interacting protein"""	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.557C>T	19.37:g.40480518C>T	ENSP00000157812:p.Thr186Met		Q96FV5|Q9UBM3|Q9UEX3	Missense_Mutation	SNP	ENST00000157812.2	37	CCDS12547.1	.	.	.	.	.	.	.	.	.	.	c	16.75	3.209072	0.58343	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	D;D	0.94897	-3.55;-3.55	5.28	5.28	0.74379	.	0.100072	0.64402	D	0.000002	D	0.96207	0.8763	L	0.56280	1.765	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.71656	0.88;0.974	D	0.96684	0.9506	10	0.87932	D	0	-6.3371	16.4	0.83637	0.0:1.0:0.0:0.0	.	155;186	P43686-2;P43686	.;PRS6B_HUMAN	M	186;155	ENSP00000157812:T186M;ENSP00000413869:T155M	ENSP00000157812:T186M	T	+	2	0	PSMC4	45172358	1.000000	0.71417	0.048000	0.18961	0.082000	0.17680	4.719000	0.61937	2.454000	0.82982	0.561000	0.74099	ACG		0.627	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1	NM_006503		7	47	7	47
FBXO46	23403	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	46216180	46216180	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr19:46216180G>A	ENST00000317683.3	-	2	707	c.574C>T	c.(574-576)Cga>Tga	p.R192*		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	192										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GTGGTCGGTCGTGGGTAGCTC	0.697																																																0													12.0	15.0	14.0					19																	46216180		2002	4147	6149	SO:0001587	stop_gained	23403			BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.574C>T	19.37:g.46216180G>A	ENSP00000410007:p.Arg192*			Nonsense_Mutation	SNP	ENST00000317683.3	37	CCDS46116.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016794	0.35606	.	.	ENSG00000177051	ENST00000317683	.	.	.	4.12	4.12	0.48240	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-19.276	11.743	0.51804	0.0:0.0:1.0:0.0	.	.	.	.	X	192	.	ENSP00000410007:R192X	R	-	1	2	FBXO46	50908020	0.001000	0.12720	0.334000	0.25495	0.092000	0.18411	0.654000	0.24918	2.136000	0.66102	0.462000	0.41574	CGA		0.697	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1	XM_371179		7	9	7	9
KLK6	5653	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	51466622	51466622	+	Silent	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr19:51466622C>T	ENST00000376851.3	-	4	820	c.381G>A	c.(379-381)ctG>ctA	p.L127L	KLK6_ENST00000376853.4_Intron|KLK6_ENST00000594641.1_Silent_p.L127L|KLK6_ENST00000310157.2_Silent_p.L127L|KLK6_ENST00000456750.2_Silent_p.L20L|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000391808.1_Silent_p.L20L	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	127	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		AGTCCCTCTCCAGGGGAAGGG	0.617																																																0													82.0	53.0	63.0					19																	51466622		2203	4300	6503	SO:0001819	synonymous_variant	5653			U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6367	protein-coding gene	gene with protein product		602652	"""protease, serine, 18"", ""kallikrein 6 (neurosin, zyme)"""	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.381G>A	19.37:g.51466622C>T			A6NJA1|A8MW09|Q6H301	Silent	SNP	ENST00000376851.3	37	CCDS12811.1																																																																																				0.617	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1	NM_002774		10	22	10	22
MYOM3	127294	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	24387556	24387556	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr1:24387556C>T	ENST00000374434.3	-	35	4150	c.3988G>A	c.(3988-3990)Gag>Aag	p.E1330K	MYOM3_ENST00000338909.5_Missense_Mutation_p.E223K|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000330966.7_Missense_Mutation_p.E1333K	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1330						M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TTACTCTTCTCGATGATGGCC	0.488																																																0													74.0	73.0	74.0					1																	24387556		1913	4137	6050	SO:0001583	missense	127294			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.3988G>A	1.37:g.24387556C>T	ENSP00000363557:p.Glu1330Lys		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538252	0.85917	.	.	ENSG00000142661	ENST00000338909;ENST00000374434;ENST00000330966	T;T;T	0.61274	0.12;0.35;0.34	4.56	4.56	0.56223	.	0.191791	0.44097	D	0.000496	T	0.58366	0.2117	M	0.78456	2.415	0.80722	D	1	D;B	0.64830	0.994;0.024	B;B	0.43251	0.413;0.02	T	0.62282	-0.6887	10	0.30854	T	0.27	.	12.8419	0.57809	0.0:1.0:0.0:0.0	.	1330;223	Q5VTT5;Q5VTT5-3	MYOM3_HUMAN;.	K	223;1330;1333	ENSP00000342689:E223K;ENSP00000363557:E1330K;ENSP00000332670:E1333K	ENSP00000332670:E1333K	E	-	1	0	MYOM3	24260143	0.996000	0.38824	1.000000	0.80357	0.980000	0.70556	4.424000	0.59868	2.079000	0.62486	0.655000	0.94253	GAG		0.488	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		14	40	14	40
TPTE	7179	hgsc.bcm.edu;broad.mit.edu	37	21	10920147	10920147	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr21:10920147A>T	ENST00000361285.4	-	19	1436	c.1107T>A	c.(1105-1107)ttT>ttA	p.F369L	TPTE_ENST00000298232.7_Missense_Mutation_p.F351L|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.F331L	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	369	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCCTTTCTCCAAAATAATACA	0.383																																																0													97.0	91.0	93.0					21																	10920147		2203	4299	6502	SO:0001583	missense	7179			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1107T>A	21.37:g.10920147A>T	ENSP00000355208:p.Phe369Leu		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	12.28	1.890057	0.33348	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.81996	-1.56;-1.56;-1.56	2.32	2.32	0.28847	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89213	0.6651	M	0.85041	2.73	0.47094	D	0.999316	D;D;D	0.67145	0.992;0.996;0.985	D;D;D	0.70716	0.97;0.97;0.93	D	0.88158	0.2855	10	0.87932	D	0	-20.5483	6.522	0.22281	1.0:0.0:0.0:0.0	.	331;351;369	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	L	351;369;331	ENSP00000298232:F351L;ENSP00000355208:F369L;ENSP00000344441:F331L	ENSP00000298232:F351L	F	-	3	2	TPTE	9942018	1.000000	0.71417	0.722000	0.30670	0.185000	0.23345	3.556000	0.53734	1.080000	0.41073	0.155000	0.16302	TTT		0.383	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			22	104	22	104
TPO	7173	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	1459909	1459909	+	Missense_Mutation	SNP	G	G	A	rs192442410	byFrequency	TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr2:1459909G>A	ENST00000345913.4	+	7	765	c.674G>A	c.(673-675)cGc>cAc	p.R225H	TPO_ENST00000346956.3_Missense_Mutation_p.R225H|TPO_ENST00000349624.3_Missense_Mutation_p.R225H|TPO_ENST00000329066.4_Missense_Mutation_p.R225H|TPO_ENST00000382201.3_Missense_Mutation_p.R225H|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.R225H|TPO_ENST00000337415.3_Missense_Mutation_p.R225H	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	225					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GATGATGACCGCTATTCTGAC	0.537													G|||	2	0.000399361	0.0	0.0	5008	,	,		20557	0.0		0.002	False		,,,				2504	0.0															0								G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	125.0	89.0	101.0		674,674,674,674,674,674	-4.6	0.5	2		101	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense,missense,missense	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	29,29,29,29,29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign,benign,benign,benign	225/934,225/934,225/877,225/877,225/890,225/761	1459909	2,13004	2203	4300	6503	SO:0001583	missense	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.674G>A	2.37:g.1459909G>A	ENSP00000318820:p.Arg225His		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	5.149	0.213152	0.09757	0.0	2.33E-4	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73	5.04	-4.55	0.03441	.	0.696260	0.13724	N	0.367174	T	0.46737	0.1408	N	0.20685	0.6	0.39487	D	0.967984	B;B;B;B	0.11235	0.003;0.002;0.001;0.004	B;B;B;B	0.09377	0.002;0.001;0.002;0.004	T	0.03829	-1.1000	10	0.40728	T	0.16	-15.6299	6.2889	0.21049	0.5527:0.0:0.2876:0.1597	.	225;225;225;225	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	H	225;225;225;225;225;225;225;154	ENSP00000337263:R225H;ENSP00000318820:R225H;ENSP00000263886:R225H;ENSP00000332044:R225H;ENSP00000329869:R225H;ENSP00000371636:R225H;ENSP00000371633:R225H;ENSP00000405788:R154H	ENSP00000329869:R225H	R	+	2	0	TPO	1438916	0.000000	0.05858	0.476000	0.27291	0.008000	0.06430	0.026000	0.13599	-0.520000	0.06435	-1.987000	0.00451	CGC		0.537	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		25	24	25	24
ITGA4	3676	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	182396426	182396426	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr2:182396426A>G	ENST00000397033.2	+	25	3137	c.2707A>G	c.(2707-2709)Aat>Gat	p.N903D		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	903					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TTTCTTGTGTAATTTTGGGAA	0.323																																																0													74.0	74.0	74.0					2																	182396426		1809	4070	5879	SO:0001583	missense	3676				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.2707A>G	2.37:g.182396426A>G	ENSP00000380227:p.Asn903Asp		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	A	11.66	1.704593	0.30232	.	.	ENSG00000115232	ENST00000397033	T	0.47528	0.84	5.49	-0.0443	0.13855	.	0.511841	0.25225	N	0.032214	T	0.41949	0.1181	M	0.63843	1.955	0.26469	N	0.975316	B	0.32010	0.351	B	0.30943	0.122	T	0.29941	-0.9995	10	0.30854	T	0.27	.	13.5616	0.61793	0.4644:0.5356:0.0:0.0	.	903	P13612	ITA4_HUMAN	D	903	ENSP00000380227:N903D	ENSP00000380227:N903D	N	+	1	0	ITGA4	182104671	0.997000	0.39634	0.694000	0.30210	0.523000	0.34469	0.790000	0.26900	-0.227000	0.09884	0.455000	0.32223	AAT		0.323	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			33	50	33	50
GIGYF2	26058	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	233674460	233674460	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr2:233674460C>T	ENST00000409547.1	+	18	2148	c.1837C>T	c.(1837-1839)Cag>Tag	p.Q613*	GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.Q607*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.Q613*|GIGYF2_ENST00000373566.3_Nonsense_Mutation_p.Q635*|GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.Q444*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.Q635*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.Q634*	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	613	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		ACTGACCAGGCAGCAAGAACT	0.433																																																0													120.0	110.0	114.0					2																	233674460		2203	4300	6503	SO:0001587	stop_gained	26058			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.1837C>T	2.37:g.233674460C>T	ENSP00000386537:p.Gln613*		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Nonsense_Mutation	SNP	ENST00000409547.1	37	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	C	41	8.826995	0.98968	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-16.8724	20.6208	0.99490	0.0:1.0:0.0:0.0	.	.	.	.	X	635;556;613;635;613;613;556;607;634;607;444	.	ENSP00000362664:Q613X	Q	+	1	0	GIGYF2	233382704	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.276000	0.78559	2.882000	0.98803	0.655000	0.94253	CAG		0.433	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		18	57	18	57
ASB1	51665	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	239344637	239344637	+	Silent	SNP	C	C	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr2:239344637C>A	ENST00000264607.4	+	3	724	c.477C>A	c.(475-477)atC>atA	p.I159I	ASB1_ENST00000409297.1_Intron	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	159					intracellular signal transduction (GO:0035556)|male genitalia development (GO:0030539)|negative regulation of cytokine biosynthetic process (GO:0042036)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		GGGCAGACATCCTGAAGGCCC	0.567																																																0													19.0	20.0	20.0					2																	239344637		2203	4300	6503	SO:0001819	synonymous_variant	51665			AF156777	CCDS33416.1	2q37	2013-01-10	2011-01-25		ENSG00000065802	ENSG00000065802		"""Ankyrin repeat domain containing"""	16011	protein-coding gene	gene with protein product		605758	"""ankyrin repeat and SOCS box-containing 1"""				Standard	XR_241235		Approved	ASB-1	uc002vyg.3	Q9Y576	OTTHUMG00000152866	ENST00000264607.4:c.477C>A	2.37:g.239344637C>A			A6NL50|Q4ZG29|Q9ULS4	Silent	SNP	ENST00000264607.4	37	CCDS33416.1																																																																																				0.567	ASB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328294.1	NM_001040445		7	8	7	8
FGD5	152273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	14862336	14862336	+	Silent	SNP	G	G	A	rs201965283		TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr3:14862336G>A	ENST00000285046.5	+	1	1868	c.1758G>A	c.(1756-1758)tcG>tcA	p.S586S	FGD5_ENST00000543601.1_Silent_p.S345S	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	586					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TCTCTCTGTCGTGTGTAATTG	0.557																																																0													47.0	49.0	48.0					3																	14862336		1976	4155	6131	SO:0001819	synonymous_variant	152273			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1758G>A	3.37:g.14862336G>A			B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	CCDS46767.1																																																																																				0.557	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		19	25	19	25
WDR6	11180	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	49049692	49049692	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr3:49049692G>A	ENST00000608424.1	+	2	764	c.725G>A	c.(724-726)cGa>cAa	p.R242Q	WDR6_ENST00000395474.3_Missense_Mutation_p.R272Q|WDR6_ENST00000448293.1_Missense_Mutation_p.R191Q|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000489684.1_3'UTR			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	242					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GGCGACCTGCGAGTGCCTGGG	0.552																																																0													90.0	94.0	93.0					3																	49049692		2203	4300	6503	SO:0001583	missense	11180			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.725G>A	3.37:g.49049692G>A	ENSP00000477389:p.Arg242Gln		B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37		.	.	.	.	.	.	.	.	.	.	G	18.01	3.527910	0.64860	.	.	ENSG00000178252	ENST00000395474;ENST00000448293	T;D	0.90133	0.17;-2.62	5.32	5.32	0.75619	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.134805	0.50627	D	0.000106	D	0.89556	0.6749	L	0.28740	0.885	0.28954	N	0.890221	D;D;P	0.89917	0.999;1.0;0.678	P;P;B	0.62382	0.815;0.901;0.063	T	0.81616	-0.0852	10	0.13853	T	0.58	-23.7477	11.6117	0.51064	0.0835:0.0:0.9165:0.0	.	113;242;191	B4DK45;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	Q	272;191	ENSP00000378857:R272Q;ENSP00000413432:R191Q	ENSP00000378857:R272Q	R	+	2	0	WDR6	49024696	0.989000	0.36119	0.980000	0.43619	0.891000	0.51852	4.558000	0.60789	2.650000	0.89964	0.561000	0.74099	CGA		0.552	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			48	69	48	69
HEG1	57493	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	124692589	124692589	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr3:124692589C>A	ENST00000311127.4	-	16	4049	c.3982G>T	c.(3982-3984)Gat>Tat	p.D1328Y		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1328					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TAGTACACATCCGTCATCTGG	0.463																																																0													98.0	97.0	97.0					3																	124692589		1879	4110	5989	SO:0001583	missense	57493			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.3982G>T	3.37:g.124692589C>A	ENSP00000311502:p.Asp1328Tyr		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490994	0.84962	.	.	ENSG00000173706	ENST00000311127;ENST00000487661	D;T	0.94184	-3.37;-0.03	4.97	4.97	0.65823	.	0.000000	0.39834	U	0.001258	D	0.94172	0.8130	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95291	0.8395	10	0.87932	D	0	.	18.4352	0.90643	0.0:1.0:0.0:0.0	.	1328	Q9ULI3	HEG1_HUMAN	Y	1328;212	ENSP00000311502:D1328Y;ENSP00000417648:D212Y	ENSP00000311502:D1328Y	D	-	1	0	HEG1	126175279	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	7.273000	0.78527	2.577000	0.86979	0.655000	0.94253	GAT		0.463	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		15	29	15	29
PIK3CA	5290	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	178917478	178917478	+	Splice_Site	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr3:178917478G>A	ENST00000263967.3	+	3	510	c.353G>A	c.(352-354)gGt>gAt	p.G118D		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	118			G -> D (in CWS5). {ECO:0000269|PubMed:23246288}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.G118D(26)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TTTATTAAAGGTTTTGCTATC	0.338		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	26	Substitution - Missense(26)	endometrium(11)|breast(4)|large_intestine(3)|central_nervous_system(3)|lung(3)|prostate(2)											93.0	87.0	89.0					3																	178917478		1809	4071	5880	SO:0001630	splice_region_variant	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.353-1G>A	3.37:g.178917478G>A			Q14CW1|Q99762	Splice_Site	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954561	0.53293	.	.	ENSG00000121879	ENST00000263967	T	0.46451	0.87	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	M	0.63843	1.955	0.80722	D	1	D	0.61080	0.989	P	0.56398	0.797	T	0.53823	-0.8384	9	.	.	.	.	20.1236	0.97970	0.0:0.0:1.0:0.0	.	118	P42336	PK3CA_HUMAN	D	118	ENSP00000263967:G118D	.	G	+	2	0	PIK3CA	180400172	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	9.471000	0.97696	2.746000	0.94184	0.563000	0.77884	GGT		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		Missense_Mutation	23	62	23	62
RNF150	57484	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	141888953	141888953	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr4:141888953T>C	ENST00000515673.2	-	2	592	c.559A>G	c.(559-561)Atc>Gtc	p.I187V	RNF150_ENST00000420921.2_Missense_Mutation_p.I46V|RNF150_ENST00000507500.1_Missense_Mutation_p.I187V|RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000379512.2_Missense_Mutation_p.I46V|RNF150_ENST00000306799.3_Missense_Mutation_p.I187V			Q9ULK6	RN150_HUMAN	ring finger protein 150	187						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GTCACGGTGATGTTTCTTTCC	0.488																																																0													295.0	253.0	267.0					4																	141888953		2203	4300	6503	SO:0001583	missense	57484			AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"""RING-type (C3HC4) zinc fingers"""	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.559A>G	4.37:g.141888953T>C	ENSP00000425840:p.Ile187Val		Q3T1D0|Q6ZNW6	Missense_Mutation	SNP	ENST00000515673.2	37	CCDS34065.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.098797	0.37048	.	.	ENSG00000170153	ENST00000379512;ENST00000420921;ENST00000306799;ENST00000515673;ENST00000507500;ENST00000506101	T;T;T;T;T;T	0.16073	2.53;2.53;2.37;3.43;3.23;2.58	5.88	-2.57	0.06248	.	0.442745	0.25961	N	0.027198	T	0.09774	0.0240	L	0.28556	0.865	0.41061	D	0.985375	B;B;B	0.11235	0.002;0.003;0.004	B;B;B	0.17979	0.008;0.02;0.009	T	0.14172	-1.0482	10	0.34782	T	0.22	.	7.2156	0.25957	0.0:0.2745:0.1095:0.6159	.	187;187;187	Q9ULK6-2;Q9ULK6-3;Q9ULK6	.;.;RN150_HUMAN	V	46;46;187;187;187;18	ENSP00000368827:I46V;ENSP00000394581:I46V;ENSP00000304321:I187V;ENSP00000425840:I187V;ENSP00000425568:I187V;ENSP00000425947:I18V	ENSP00000304321:I187V	I	-	1	0	RNF150	142108403	0.995000	0.38212	0.970000	0.41538	0.959000	0.62525	0.242000	0.18087	-0.658000	0.05366	-0.297000	0.09499	ATC		0.488	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364739.2	XM_291090		28	141	28	141
MND1	84057	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	154335914	154335914	+	Missense_Mutation	SNP	G	G	A	rs558905999		TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr4:154335914G>A	ENST00000240488.3	+	8	612	c.523G>A	c.(523-525)Gca>Aca	p.A175T		NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1			meiotic nuclear divisions 1 homolog (S. cerevisiae)											large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					TAACATATTCGCAATAAAATC	0.249													G|||	1	0.000199681	0.0	0.0	5008	,	,		16504	0.0		0.0	False		,,,				2504	0.001															0													26.0	28.0	28.0					4																	154335914		2162	4273	6435	SO:0001583	missense	84057			AY028916	CCDS3782.1, CCDS75202.1	4q31.3	2008-02-05			ENSG00000121211	ENSG00000121211			24839	protein-coding gene	gene with protein product		611422				11940665	Standard	NM_032117		Approved	GAJ	uc003ink.2	Q9BWT6	OTTHUMG00000161523	ENST00000240488.3:c.523G>A	4.37:g.154335914G>A	ENSP00000240488:p.Ala175Thr			Missense_Mutation	SNP	ENST00000240488.3	37	CCDS3782.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.993820	0.35131	.	.	ENSG00000121211	ENST00000240488	.	.	.	5.33	3.55	0.40652	.	0.205870	0.49916	D	0.000136	T	0.44350	0.1289	L	0.46614	1.455	0.80722	D	1	P	0.34724	0.465	B	0.29785	0.107	T	0.30736	-0.9968	9	0.07482	T	0.82	-10.2572	13.666	0.62396	0.0:0.0:0.7183:0.2817	.	175	Q9BWT6	MND1_HUMAN	T	175	.	ENSP00000240488:A175T	A	+	1	0	MND1	154555364	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.329000	0.33770	0.700000	0.31782	0.455000	0.32223	GCA		0.249	MND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365194.2	NM_032117		15	26	15	26
TRIML1	339976	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	189068521	189068521	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr4:189068521G>A	ENST00000332517.3	+	6	1542	c.1402G>A	c.(1402-1404)Gtc>Atc	p.V468I	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	468	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GAACAGCCACGTCTGAGGGGC	0.542																																					Melanoma(31;213 1036 16579 23968 32372)											0													38.0	40.0	39.0					4																	189068521		2199	4297	6496	SO:0001583	missense	339976			AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.1402G>A	4.37:g.189068521G>A	ENSP00000327738:p.Val468Ile		Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	g	11.82	1.751945	0.31046	.	.	ENSG00000184108	ENST00000332517	T	0.61158	0.13	4.79	0.492	0.16872	B30.2/SPRY domain (1);	1.487680	0.04495	N	0.380167	T	0.31734	0.0806	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.15150	-1.0447	10	0.13108	T	0.6	-2.5793	2.7703	0.05332	0.4061:0.0:0.3903:0.2036	.	468	Q8N9V2	TRIML_HUMAN	I	468	ENSP00000327738:V468I	ENSP00000327738:V468I	V	+	1	0	TRIML1	189305515	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.020000	0.13466	0.267000	0.21916	-0.142000	0.14014	GTC		0.542	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		31	32	31	32
ADAMTS16	170690	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	5237184	5237184	+	Missense_Mutation	SNP	G	G	A	rs371654781		TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:5237184G>A	ENST00000274181.7	+	14	2264	c.2126G>A	c.(2125-2127)cGt>cAt	p.R709H	ADAMTS16_ENST00000513709.1_Intron	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	709	Cys-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GAGGATAGCCGTAATGTTTGT	0.403																																																0								G	HIS/ARG	1,3801		0,1,1900	138.0	128.0	131.0		2126	5.7	1.0	5		131	0,8246		0,0,4123	no	missense	ADAMTS16	NM_139056.2	29	0,1,6023	AA,AG,GG		0.0,0.0263,0.0083	benign	709/1225	5237184	1,12047	1901	4123	6024	SO:0001583	missense	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2126G>A	5.37:g.5237184G>A	ENSP00000274181:p.Arg709His		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.275132	0.23307	2.63E-4	0.0	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.59638	0.25	5.73	5.73	0.89815	.	0.373024	0.28712	N	0.014384	T	0.46444	0.1393	L	0.52364	1.645	0.30781	N	0.741972	B;B	0.21688	0.059;0.023	B;B	0.15484	0.006;0.013	T	0.42949	-0.9421	10	0.16420	T	0.52	.	8.3841	0.32491	0.0811:0.1572:0.7617:0.0	.	709;709	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	H	709	ENSP00000274181:R709H	ENSP00000274181:R709H	R	+	2	0	ADAMTS16	5290184	0.227000	0.23707	1.000000	0.80357	0.998000	0.95712	0.854000	0.27791	2.708000	0.92522	0.655000	0.94253	CGT		0.403	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		42	61	42	61
CDH6	1004	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	31323148	31323148	+	Silent	SNP	G	G	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:31323148G>T	ENST00000265071.2	+	12	2371	c.2106G>T	c.(2104-2106)cgG>cgT	p.R702R		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	702					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TACCCCGACGGACTCCAACAG	0.522																																																0													76.0	73.0	74.0					5																	31323148		2203	4300	6503	SO:0001819	synonymous_variant	1004			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.2106G>T	5.37:g.31323148G>T			A8K5H5|Q9BWS0	Silent	SNP	ENST00000265071.2	37	CCDS3894.1																																																																																				0.522	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		16	28	16	28
HCN1	348980	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	45267295	45267295	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:45267295C>T	ENST00000303230.4	-	7	1736	c.1679G>A	c.(1678-1680)cGt>cAt	p.R560H		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	560					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGAGTAAAGACGACAATATGT	0.433																																																0													162.0	146.0	152.0					5																	45267295		2203	4300	6503	SO:0001583	missense	348980			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1679G>A	5.37:g.45267295C>T	ENSP00000307342:p.Arg560His			Missense_Mutation	SNP	ENST00000303230.4	37	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434438	0.83776	.	.	ENSG00000164588	ENST00000303230	D	0.92911	-3.13	5.91	5.91	0.95273	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.64402	D	0.000002	D	0.87585	0.6214	L	0.40543	1.245	0.80722	D	1	P	0.44816	0.844	B	0.29942	0.109	D	0.88567	0.3127	10	0.56958	D	0.05	.	20.2963	0.98556	0.0:1.0:0.0:0.0	.	560	O60741	HCN1_HUMAN	H	560	ENSP00000307342:R560H	ENSP00000307342:R560H	R	-	2	0	HCN1	45303052	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	7.487000	0.81328	2.813000	0.96785	0.655000	0.94253	CGT		0.433	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		48	80	48	80
HSPB3	8988	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	53751847	53751847	+	Silent	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:53751847C>T	ENST00000302005.1	+	1	403	c.228C>T	c.(226-228)gaC>gaT	p.D76D		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	76					cell death (GO:0008219)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				TCCTGCTGGACGTGGTCCAGT	0.547																																																0													95.0	87.0	89.0					5																	53751847		2203	4300	6503	SO:0001819	synonymous_variant	8988			Y17782	CCDS3961.1	5q11.2	2011-09-02	2002-08-29		ENSG00000169271	ENSG00000169271		"""Heat shock proteins / HSPB"""	5248	protein-coding gene	gene with protein product		604624	"""heat shock 27kD protein 3"""			8972725, 9858786	Standard	NM_006308		Approved	HSPL27	uc003jph.2	Q12988	OTTHUMG00000096995	ENST00000302005.1:c.228C>T	5.37:g.53751847C>T				Silent	SNP	ENST00000302005.1	37	CCDS3961.1																																																																																				0.547	HSPB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214074.2			22	43	22	43
OPN5	221391	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	47754301	47754301	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr6:47754301C>T	ENST00000371211.2	+	2	209	c.181C>T	c.(181-183)Cga>Tga	p.R61*	OPN5_ENST00000489301.2_Nonsense_Mutation_p.R61*|OPN5_ENST00000393699.2_Nonsense_Mutation_p.R61*	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	61					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						GTCTTCTAGACGAAAGAAGAA	0.378																																					Melanoma(28;740 973 10870 42660 45347)											0													128.0	120.0	123.0					6																	47754301		2203	4300	6503	SO:0001587	stop_gained	221391			AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"""GPCR / Class A : Opsin receptors"""	19992	protein-coding gene	gene with protein product	"""neuropsin"""	609042	"""transmembrane protein 13"""	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.181C>T	6.37:g.47754301C>T	ENSP00000360255:p.Arg61*		A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Nonsense_Mutation	SNP	ENST00000371211.2	37	CCDS4923.1	.	.	.	.	.	.	.	.	.	.	C	37	6.062174	0.97246	.	.	ENSG00000124818	ENST00000489301;ENST00000371211;ENST00000393699	.	.	.	5.97	4.1	0.47936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	14.0986	0.65039	0.3926:0.6074:0.0:0.0	.	.	.	.	X	61	.	ENSP00000360255:R61X	R	+	1	2	OPN5	47862260	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.131000	0.31406	1.493000	0.48517	0.655000	0.94253	CGA		0.378	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	NM_181744		41	33	41	33
SLC35D3	340146	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	137245387	137245388	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr6:137245387_137245388GG>TT	ENST00000331858.4	+	2	969_970	c.804_805GG>TT	c.(802-807)acGGtg>acTTtg	p.V269L		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	269					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CCACCATCACGGTGGGCATGGT	0.589																																																0																																										SO:0001583	missense	340146				CCDS34544.1	6q23.2	2013-05-22			ENSG00000182747	ENSG00000182747		"""Solute carriers"""	15621	protein-coding gene	gene with protein product		612519		FRCL1			Standard	NM_001008783		Approved		uc003qhe.3	Q5M8T2	OTTHUMG00000015651	Exception_encountered	6.37:g.137245387_137245388delinsTT	ENSP00000333591:p.Val269Leu		B4DI58|Q5QNZ6|Q6NX71	Silent|Missense_Mutation	SNP	ENST00000331858.4	37	CCDS34544.1																																																																																				0.589	SLC35D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042389.2	XM_294017		21	3	21	3
ABCB1	5243	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	87178715	87178715	+	Silent	SNP	C	C	T	rs56871767		TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr7:87178715C>T	ENST00000265724.3	-	15	2091	c.1674G>A	c.(1672-1674)acG>acA	p.T558T	ABCB1_ENST00000543898.1_Silent_p.T494T	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	558	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	CCAAGGCTGACGTGGCCTCAT	0.537																																																0								C		1,4405	2.1+/-5.4	0,1,2202	114.0	93.0	100.0		1674	-11.6	0.2	7	dbSNP_129	100	0,8600		0,0,4300	no	coding-synonymous	ABCB1	NM_000927.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		558/1281	87178715	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5243			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1674G>A	7.37:g.87178715C>T			A8K294|B5AK60|Q12755|Q14812	Silent	SNP	ENST00000265724.3	37	CCDS5608.1																																																																																				0.537	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		28	54	28	54
DOCK5	80005	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	25216578	25216578	+	Splice_Site	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr8:25216578G>A	ENST00000276440.7	+	28	2993		c.e28+1			NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5						positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGACATCATCGTAAGTTGCCT	0.458																																					Pancreas(145;34 1887 3271 10937 30165)											0													238.0	209.0	219.0					8																	25216578		2203	4300	6503	SO:0001630	splice_region_variant	80005				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.2949+1G>A	8.37:g.25216578G>A			B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Splice_Site	SNP	ENST00000276440.7	37	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643231	0.87859	.	.	ENSG00000147459	ENST00000276440;ENST00000444569	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9958	0.97383	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOCK5	25272495	1.000000	0.71417	0.977000	0.42913	0.883000	0.51084	9.845000	0.99498	2.826000	0.97356	0.655000	0.94253	.		0.458	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	Intron	60	81	60	81
RIMS2	9699	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	104898359	104898359	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr8:104898359C>T	ENST00000436393.2	+	2	1107	c.866C>T	c.(865-867)tCg>tTg	p.S289L	RIMS2_ENST00000262231.10_Missense_Mutation_p.S319L|RIMS2_ENST00000406091.3_Missense_Mutation_p.S511L|RIMS2_ENST00000507740.1_Missense_Mutation_p.S319L			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	542					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.S289L(1)|p.S547L(1)|p.S319L(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CGCCAGATTTCGTTGAGCAGT	0.428										HNSCC(12;0.0054)																																						3	Substitution - Missense(3)	upper_aerodigestive_tract(3)											64.0	60.0	61.0					8																	104898359		2001	4155	6156	SO:0001583	missense	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.866C>T	8.37:g.104898359C>T	ENSP00000390665:p.Ser289Leu		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37		.	.	.	.	.	.	.	.	.	.	C	28.3	4.908373	0.92107	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.25085	1.82;2.29;1.96;1.85;1.98;1.95;2.31	5.54	5.54	0.83059	.	.	.	.	.	T	0.51601	0.1684	M	0.62723	1.935	0.80722	D	1	D;D;P;D;D	0.89917	1.0;0.998;0.595;1.0;1.0	D;D;B;D;D	0.87578	0.998;0.992;0.335;0.996;0.998	T	0.51553	-0.8691	9	0.87932	D	0	.	19.4836	0.95020	0.0:1.0:0.0:0.0	.	542;289;319;319;511	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	L	511;542;511;542;319;319;319;319;289	ENSP00000427018:S511L;ENSP00000384892:S511L;ENSP00000425205:S319L;ENSP00000262231:S319L;ENSP00000423559:S319L;ENSP00000386228:S319L;ENSP00000390665:S289L	ENSP00000262231:S319L	S	+	2	0	RIMS2	104967535	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	7.780000	0.85658	2.597000	0.87782	0.563000	0.77884	TCG		0.428	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		27	37	27	37
TYRP1	7306	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	12708029	12708029	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr9:12708029A>G	ENST00000388918.5	+	7	1423	c.1294A>G	c.(1294-1296)Att>Gtt	p.I432V	TYRP1_ENST00000381137.2_Missense_Mutation_p.I141V|TYRP1_ENST00000473504.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381136.2_Missense_Mutation_p.I142V	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	432					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		AAATGCCCCTATTGGACATAA	0.348									Oculocutaneous Albinism																																							0													55.0	54.0	54.0					9																	12708029		2203	4300	6503	SO:0001583	missense	7306	Familial Cancer Database		L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.1294A>G	9.37:g.12708029A>G	ENSP00000373570:p.Ile432Val		P78468|P78469|Q13721|Q15679	Missense_Mutation	SNP	ENST00000388918.5	37	CCDS34990.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.771758	0.90108	.	.	ENSG00000107165	ENST00000381137;ENST00000388918;ENST00000381136	D;D;D	0.98762	-5.12;-5.12;-5.12	5.68	5.68	0.88126	Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	D	0.99105	0.9692	M	0.83223	2.63	0.80722	D	1	D	0.67145	0.996	D	0.77557	0.99	D	0.99683	1.0999	10	0.66056	D	0.02	-20.8966	15.9279	0.79635	1.0:0.0:0.0:0.0	.	432	P17643	TYRP1_HUMAN	V	141;432;142	ENSP00000370529:I141V;ENSP00000373570:I432V;ENSP00000370528:I142V	ENSP00000370528:I142V	I	+	1	0	TYRP1	12698029	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.165000	0.68154	0.482000	0.46254	ATT		0.348	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		16	1	16	1
ZNF484	83744	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	95610417	95610417	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr9:95610417T>C	ENST00000375495.3	-	5	800	c.652A>G	c.(652-654)Aca>Gca	p.T218A	ZNF484_ENST00000332591.6_Missense_Mutation_p.T182A|ZNF484_ENST00000395506.3_Missense_Mutation_p.T220A|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_Missense_Mutation_p.T182A	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	218					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)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GTCACTTCTGTATGAGAATTC	0.353																																																0													103.0	104.0	104.0					9																	95610417		2203	4300	6503	SO:0001583	missense	83744			AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.652A>G	9.37:g.95610417T>C	ENSP00000364645:p.Thr218Ala		B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	5.816	0.334838	0.11013	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	2.94	0.566	0.17317	.	.	.	.	.	T	0.22820	0.0551	M	0.76170	2.325	0.20638	N	0.999877	B;B	0.23377	0.084;0.084	B;B	0.21708	0.036;0.022	T	0.26292	-1.0107	9	0.54805	T	0.06	.	6.1104	0.20097	0.0:0.2418:0.0:0.7582	.	220;218	B4DRI2;Q5JVG2	.;ZN484_HUMAN	A	182;220;218;182	ENSP00000378881:T182A;ENSP00000378882:T220A;ENSP00000364645:T218A;ENSP00000364646:T182A	ENSP00000364646:T182A	T	-	1	0	ZNF484	94650238	0.997000	0.39634	0.201000	0.23476	0.056000	0.15407	1.049000	0.30392	0.105000	0.17753	0.523000	0.50628	ACA		0.353	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		28	89	28	89
PLPPR1	54886	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	104086328	104086328	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr9:104086328G>A	ENST00000374874.3	+	8	1406	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	LPPR1_ENST00000395056.2_Missense_Mutation_p.E323K|SNORA31_ENST00000517232.1_RNA	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		323					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)										GTCCATGACCGAAGTTACCTG	0.418																																																0													155.0	121.0	132.0					9																	104086328		2203	4300	6503	SO:0001583	missense	54886																														ENST00000374874.3:c.967G>A	9.37:g.104086328G>A	ENSP00000364008:p.Glu323Lys		Q5VX23|Q9NXE2	Missense_Mutation	SNP	ENST00000374874.3	37	CCDS6751.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518161	0.64634	.	.	ENSG00000148123	ENST00000374874;ENST00000374871;ENST00000395056	T;T	0.32023	1.47;1.47	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.24122	0.0584	L	0.43152	1.355	0.54753	D	0.999987	P;P	0.50617	0.937;0.892	B;B	0.35813	0.211;0.073	T	0.06972	-1.0797	10	0.16896	T	0.51	-31.1507	17.8069	0.88604	0.0:0.0:1.0:0.0	.	307;323	B7Z8P4;Q8TBJ4	.;LPPR1_HUMAN	K	323	ENSP00000364008:E323K;ENSP00000378496:E323K	ENSP00000364005:E323K	E	+	1	0	RP11-35N6.1	103126149	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.562000	0.82300	2.449000	0.82847	0.650000	0.86243	GAA		0.418	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053425.1			15	29	15	29
SLC46A2	57864	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	115648895	115648895	+	Splice_Site	SNP	T	T	G			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr9:115648895T>G	ENST00000374228.4	-	3	1446	c.1215A>C	c.(1213-1215)ggA>ggC	p.G405G	RP11-408O19.5_ENST00000605480.1_RNA	NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	405					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						CGAACACCTTTCCTGTGGAAG	0.542																																																0													165.0	123.0	137.0					9																	115648895		2203	4300	6503	SO:0001630	splice_region_variant	57864			AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"""Solute carriers"""	16055	protein-coding gene	gene with protein product		608956	"""thymic stromal co-transporter"""	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.1214-1A>C	9.37:g.115648895T>G			B1ALK1|Q86VT0|Q96NE2	Splice_Site	SNP	ENST00000374228.4	37	CCDS6786.1																																																																																				0.542	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053702.1	NM_033051	Silent	21	42	21	42
PLP1	5354	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	103043374	103043374	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chrX:103043374C>T	ENST00000303958.2	+	5	777	c.631C>T	c.(631-633)Cca>Tca	p.P211S	PLP1_ENST00000361621.2_Missense_Mutation_p.P176S|PLP1_ENST00000466486.1_3'UTR|PLP1_ENST00000418604.1_Missense_Mutation_p.P211S	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	211			P -> L (in HLD1). {ECO:0000269|PubMed:9008538, ECO:0000269|PubMed:9894878}.		astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						AGGTGTTCTCCCATGGAATGC	0.478																																																0													281.0	246.0	258.0					X																	103043374		2203	4300	6503	SO:0001583	missense	5354			M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"""Pelizaeus-Merzbacher disease"""	300401	"""spastic paraplegia 2, uncomplicated"""	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.631C>T	X.37:g.103043374C>T	ENSP00000305152:p.Pro211Ser		P04400|P06905|Q502Y1|Q6FHZ6	Missense_Mutation	SNP	ENST00000303958.2	37	CCDS14513.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400491	0.83120	.	.	ENSG00000123560	ENST00000418604;ENST00000303958;ENST00000361621;ENST00000428755	D;D;D	0.99677	-6.37;-6.37;-6.37	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.99504	0.9823	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.999;0.999;0.999;0.996	D	0.98503	1.0615	10	0.46703	T	0.11	-1.6543	15.4218	0.75018	0.0:1.0:0.0:0.0	.	156;211;211;176	B4DI30;A8K9L3;P60201;P60201-2	.;.;MYPR_HUMAN;.	S	211;211;176;189	ENSP00000405750:P211S;ENSP00000305152:P211S;ENSP00000354860:P176S	ENSP00000305152:P211S	P	+	1	0	PLP1	102930030	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.445000	0.80570	2.233000	0.73108	0.594000	0.82650	CCA		0.478	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2			146	218	146	218
MAGEA6	4105	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	151870194	151870194	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chrX:151870194G>A	ENST00000329342.5	+	3	1109	c.884G>A	c.(883-885)gGa>gAa	p.G295E		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	295	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AAGATCAGTGGAGGACCTCGC	0.567																																																0													146.0	139.0	142.0					X																	151870194		2202	4298	6500	SO:0001583	missense	4105				CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.884G>A	X.37:g.151870194G>A	ENSP00000329199:p.Gly295Glu		A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	g	1.500	-0.552200	0.03996	.	.	ENSG00000197172	ENST00000329342	T	0.01745	4.66	0.879	-1.76	0.08006	.	.	.	.	.	T	0.01976	0.0062	L	0.55834	1.745	0.09310	N	1	B	0.29508	0.246	B	0.28784	0.094	T	0.38156	-0.9674	9	0.54805	T	0.06	.	2.8302	0.05497	0.4453:0.2487:0.306:0.0	.	295	P43360	MAGA6_HUMAN	E	295	ENSP00000329199:G295E	ENSP00000329199:G295E	G	+	2	0	MAGEA6	151620850	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.538000	0.06120	-1.946000	0.01035	-1.097000	0.02148	GGA		0.567	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		76	107	76	107
SI	6476	broad.mit.edu;ucsc.edu	37	3	164741401	164741401	+	Missense_Mutation	SNP	C	C	T	rs562524905		TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr3:164741401C>T	ENST00000264382.3	-	26	3118	c.3056G>A	c.(3055-3057)cGt>cAt	p.R1019H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1019	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CACCTCCACACGAAGAGTTGA	0.388										HNSCC(35;0.089)			C|||	1	0.000199681	0.0	0.0	5008	,	,		15081	0.001		0.0	False		,,,				2504	0.0															0													127.0	120.0	122.0					3																	164741401		2203	4300	6503	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3056G>A	3.37:g.164741401C>T	ENSP00000264382:p.Arg1019His		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230513	0.58777	.	.	ENSG00000090402	ENST00000264382	T	0.13901	2.55	5.39	4.52	0.55395	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	T	0.21186	0.0510	M	0.86343	2.81	0.52099	D	0.999943	B	0.31599	0.33	B	0.18561	0.022	T	0.05767	-1.0865	10	0.52906	T	0.07	.	14.178	0.65555	0.0:0.9274:0.0:0.0726	.	1019	P14410	SUIS_HUMAN	H	1019	ENSP00000264382:R1019H	ENSP00000264382:R1019H	R	-	2	0	SI	166224095	0.899000	0.30636	0.984000	0.44739	0.987000	0.75469	1.691000	0.37721	1.505000	0.48720	0.655000	0.94253	CGT		0.388	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		28	59	28	59
GUCY2F	2986	broad.mit.edu;ucsc.edu	37	X	108719025	108719025	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chrX:108719025C>A	ENST00000218006.2	-	2	432	c.141G>T	c.(139-141)caG>caT	p.Q47H		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	47					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GTGTCCACACCTGCTGCGGAA	0.567											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													83.0	70.0	74.0					X																	108719025		2203	4300	6503	SO:0001583	missense	2986			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.141G>T	X.37:g.108719025C>A	ENSP00000218006:p.Gln47His	1414	Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.391359	0.25118	.	.	ENSG00000101890	ENST00000218006	T	0.78707	-1.2	4.42	0.121	0.14695	.	0.733782	0.12990	N	0.422561	T	0.56093	0.1962	N	0.19112	0.55	0.09310	N	1	P	0.34955	0.477	B	0.36766	0.232	T	0.44467	-0.9326	10	0.14252	T	0.57	.	2.9516	0.05864	0.2002:0.3881:0.0:0.4117	.	47	P51841	GUC2F_HUMAN	H	47	ENSP00000218006:Q47H	ENSP00000218006:Q47H	Q	-	3	2	GUCY2F	108605681	0.008000	0.16893	0.000000	0.03702	0.862000	0.49288	0.362000	0.20284	-0.128000	0.11641	0.600000	0.82982	CAG		0.567	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		30	50	30	50
ZNF624	57547	broad.mit.edu;ucsc.edu	37	17	16527452	16527452	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr17:16527452C>A	ENST00000311331.7	-	6	839	c.748G>T	c.(748-750)Gag>Tag	p.E250*		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	250					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)			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCTTTCATCTCCTTGCAAATT	0.373																																					NSCLC(186;1023 2134 13330 38202 39800)											0													129.0	135.0	133.0					17																	16527452		2203	4300	6503	SO:0001587	stop_gained	57547			AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.748G>T	17.37:g.16527452C>A	ENSP00000310472:p.Glu250*		Q3SY62|Q3SY63|Q6ZN27	Nonsense_Mutation	SNP	ENST00000311331.7	37	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174210	0.38413	.	.	ENSG00000197566	ENST00000311331	.	.	.	3.47	1.46	0.22682	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	7.0854	0.25254	0.0:0.7603:0.0:0.2397	.	.	.	.	X	250	.	ENSP00000310472:E250X	E	-	1	0	ZNF624	16468177	0.000000	0.05858	0.262000	0.24481	0.156000	0.22039	-0.077000	0.11394	0.813000	0.34350	0.563000	0.77884	GAG		0.373	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617		70	78	70	78
GPR110	266977	broad.mit.edu;ucsc.edu	37	6	46996743	46996743	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr6:46996743C>T	ENST00000371253.2	-	2	270	c.55G>A	c.(55-57)Ggt>Agt	p.G19S	GPR110_ENST00000371243.2_Missense_Mutation_p.G19S|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	19					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						AGGAAGCCACCGTGGCCGTCA	0.512																																																0													138.0	109.0	119.0					6																	46996743		2203	4300	6503	SO:0001583	missense	266977			AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.55G>A	6.37:g.46996743C>T	ENSP00000360299:p.Gly19Ser		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	C	9.221	1.033489	0.19590	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000371243	T	0.31510	1.49	4.48	-2.16	0.07080	.	1.942450	0.02509	N	0.091272	T	0.07593	0.0191	L	0.36672	1.1	0.09310	N	1	B;B	0.33022	0.394;0.168	B;B	0.25506	0.061;0.019	T	0.16482	-1.0401	10	0.38643	T	0.18	3.2058	5.5982	0.17339	0.0:0.3197:0.4192:0.2612	.	19;19	Q5T601-2;Q5T601	.;GP110_HUMAN	S	19	ENSP00000360299:G19S	ENSP00000360289:G19S	G	-	1	0	GPR110	47104702	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.314000	0.08092	-0.583000	0.05921	-0.172000	0.13284	GGT		0.512	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		20	27	20	27
GRXCR2	643226	broad.mit.edu;ucsc.edu	37	5	145252495	145252495	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:145252495C>T	ENST00000377976.1	-	1	36	c.37G>A	c.(37-39)Gat>Aat	p.D13N		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	13						cell projection (GO:0042995)				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GGTTTGCCATCACTCTTCTGA	0.507																																																0													104.0	103.0	103.0					5																	145252495		2203	4300	6503	SO:0001583	missense	643226				CCDS34263.1	5q32	2014-03-14			ENSG00000204928	ENSG00000204928			33862	protein-coding gene	gene with protein product		615762				24619944	Standard	NM_001080516		Approved	DFNB101	uc003lns.1	A6NFK2	OTTHUMG00000163417	ENST00000377976.1:c.37G>A	5.37:g.145252495C>T	ENSP00000367214:p.Asp13Asn			Missense_Mutation	SNP	ENST00000377976.1	37	CCDS34263.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.874700	0.51695	.	.	ENSG00000204928	ENST00000377976	T	0.58060	0.36	5.73	5.73	0.89815	.	0.097453	0.64402	D	0.000001	T	0.58337	0.2115	L	0.47716	1.5	0.47407	D	0.999416	P	0.49559	0.925	P	0.49752	0.621	T	0.55698	-0.8100	10	0.45353	T	0.12	-20.3046	19.0403	0.92995	0.0:1.0:0.0:0.0	.	13	A6NFK2	GRCR2_HUMAN	N	13	ENSP00000367214:D13N	ENSP00000367214:D13N	D	-	1	0	GRXCR2	145232688	0.993000	0.37304	0.960000	0.40013	0.084000	0.17831	3.037000	0.49775	2.854000	0.98071	0.655000	0.94253	GAT		0.507	GRXCR2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373289.2			49	78	49	78
SGCD	6444	broad.mit.edu;ucsc.edu	37	5	155771587	155771587	+	Missense_Mutation	SNP	G	G	A	rs200476861		TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:155771587G>A	ENST00000435422.3	+	2	576	c.89G>A	c.(88-90)cGg>cAg	p.R30Q	SGCD_ENST00000337851.4_Missense_Mutation_p.R31Q|SGCD_ENST00000517913.1_Missense_Mutation_p.R31Q|SGCD_ENST00000447401.1_Missense_Mutation_p.R31Q	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	30					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TATGGCTGGCGGAAACGATGC	0.483																																																0								G	GLN/ARG,GLN/ARG,GLN/ARG	0,3930		0,0,1965	109.0	118.0	115.0		92,89,92	4.7	1.0	5		115	2,8284		0,2,4141	yes	missense,missense,missense	SGCD	NM_000337.5,NM_001128209.1,NM_172244.2	43,43,43	0,2,6106	AA,AG,GG		0.0241,0.0,0.0164	probably-damaging,probably-damaging,probably-damaging	31/291,30/290,31/257	155771587	2,12214	1965	4143	6108	SO:0001583	missense	6444			BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"""sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"""			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.89G>A	5.37:g.155771587G>A	ENSP00000403003:p.Arg30Gln		A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP	ENST00000435422.3	37	CCDS47327.1	.	.	.	.	.	.	.	.	.	.	G	33	5.241411	0.95272	0.0	2.41E-4	ENSG00000170624	ENST00000517913;ENST00000435422;ENST00000337851;ENST00000447401	D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79	5.59	4.7	0.59300	.	0.112392	0.56097	D	0.000027	D	0.97167	0.9074	M	0.76328	2.33	0.80722	D	1	D;D;D	0.89917	0.998;0.997;1.0	P;P;D	0.65323	0.834;0.744;0.934	D	0.97535	1.0082	10	0.72032	D	0.01	-21.9678	15.6177	0.76780	0.0:0.0:0.8614:0.1386	.	30;31;31	Q92629;Q92629-2;Q92629-3	SGCD_HUMAN;.;.	Q	31;30;31;31	ENSP00000429378:R31Q;ENSP00000403003:R30Q;ENSP00000338343:R31Q;ENSP00000408324:R31Q	ENSP00000338343:R31Q	R	+	2	0	SGCD	155704165	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.731000	0.98807	1.314000	0.45095	0.655000	0.94253	CGG		0.483	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			36	40	36	40
OLFML2B	25903	broad.mit.edu;ucsc.edu	37	1	161967984	161967984	+	Missense_Mutation	SNP	C	C	T	rs202036346		TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr1:161967984C>T	ENST00000294794.3	-	6	1528	c.1105G>A	c.(1105-1107)Gca>Aca	p.A369T	OLFML2B_ENST00000367940.2_Missense_Mutation_p.A370T	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	369					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.A369T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GACCAGGGTGCGGTCCGAGCG	0.627																																																1	Substitution - Missense(1)	urinary_tract(1)											148.0	153.0	151.0					1																	161967984		2203	4300	6503	SO:0001583	missense	25903			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1105G>A	1.37:g.161967984C>T	ENSP00000294794:p.Ala369Thr		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	C	5.254	0.232336	0.09969	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	D;D	0.86432	-2.12;-2.12	4.62	-4.27	0.03744	.	.	.	.	.	T	0.39835	0.1093	N	0.02539	-0.55	0.22468	N	0.999077	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.11421	-1.0588	8	0.12430	T	0.62	.	6.6087	0.22739	0.1194:0.2596:0.0:0.621	.	370;369	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	T	369;370	ENSP00000294794:A369T;ENSP00000356917:A370T	ENSP00000294794:A369T	A	-	1	0	OLFML2B	160234608	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.486000	0.00455	-0.747000	0.04759	-0.448000	0.05591	GCA		0.627	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		70	102	70	102
KRT39	390792	broad.mit.edu;ucsc.edu	37	17	39122910	39122910	+	Missense_Mutation	SNP	G	G	A	rs376519481		TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr17:39122910G>A	ENST00000355612.2	-	1	234	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	67	Head.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				ATGGGCTTGCGACAAAAGCGA	0.517																																																0								G	CYS/ARG	0,4406		0,0,2203	192.0	194.0	193.0		199	-3.8	0.0	17		193	2,8590	2.2+/-6.3	0,2,4294	no	missense	KRT39	NM_213656.3	180	0,2,6497	AA,AG,GG		0.0233,0.0,0.0154	benign	67/492	39122910	2,12996	2203	4296	6499	SO:0001583	missense	390792			AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.199C>T	17.37:g.39122910G>A	ENSP00000347823:p.Arg67Cys		B2RXK6|Q6IFU6	Missense_Mutation	SNP	ENST00000355612.2	37	CCDS11382.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.256591	0.22965	0.0	2.33E-4	ENSG00000196859	ENST00000355612	D	0.82984	-1.67	5.75	-3.8	0.04307	.	0.899723	0.09315	N	0.819084	T	0.59649	0.2209	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.45145	-0.9281	10	0.38643	T	0.18	.	7.766	0.28980	0.5871:0.1257:0.2872:0.0	.	67	Q6A163	K1C39_HUMAN	C	67	ENSP00000347823:R67C	ENSP00000347823:R67C	R	-	1	0	KRT39	36376436	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.808000	0.04515	-0.691000	0.05135	-0.143000	0.13931	CGC		0.517	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	NM_213656		82	115	82	115
RIBC2	26150	broad.mit.edu;ucsc.edu	37	22	45821982	45821982	+	Missense_Mutation	SNP	G	G	A	rs149130910	byFrequency	TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr22:45821982G>A	ENST00000342894.3	+	5	1025	c.611G>A	c.(610-612)cGc>cAc	p.R204H	RIBC2_ENST00000466226.1_3'UTR|RIBC2_ENST00000538017.1_Missense_Mutation_p.R272H			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	204						nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GTCCCTGACCGCTGGAAGGGC	0.642													G|||	5	0.000998403	0.0	0.0014	5008	,	,		15564	0.0		0.004	False		,,,				2504	0.0															0								G	HIS/ARG	4,4402	6.2+/-15.9	0,4,2199	54.0	56.0	56.0		814	3.5	1.0	22	dbSNP_134	56	26,8574	19.2+/-60.6	0,26,4274	yes	missense	RIBC2	NM_015653.3	29	0,30,6473	AA,AG,GG		0.3023,0.0908,0.2307	probably-damaging	272/378	45821982	30,12976	2203	4300	6503	SO:0001583	missense	26150			AK098586		22q13.3	2004-08-18	2004-08-18	2004-08-18	ENSG00000128408	ENSG00000128408			13241	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 11"""	C22orf11		12477932	Standard	NM_015653		Approved	DKFZp566F0546, FLJ25720	uc011aqs.3	Q9H4K1	OTTHUMG00000151332	ENST00000342894.3:c.611G>A	22.37:g.45821982G>A	ENSP00000342529:p.Arg204His		Q6ICD0|Q9Y413	Missense_Mutation	SNP	ENST00000342894.3	37		.	.	.	.	.	.	.	.	.	.	G	22.4	4.283681	0.80803	9.08E-4	0.003023	ENSG00000128408	ENST00000342894;ENST00000538017	T;T	0.25250	1.81;1.81	4.62	3.54	0.40534	.	0.231857	0.34853	N	0.003630	T	0.42899	0.1223	.	.	.	0.38874	D	0.956764	D	0.89917	1.0	D	0.83275	0.996	T	0.22730	-1.0208	9	0.22706	T	0.39	-3.651	12.9579	0.58441	0.094:0.0:0.906:0.0	.	204	Q9H4K1	RIBC2_HUMAN	H	204;272	ENSP00000342529:R204H;ENSP00000444196:R272H	ENSP00000342529:R204H	R	+	2	0	RIBC2	44200646	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	3.567000	0.53813	2.378000	0.81104	0.655000	0.94253	CGC		0.642	RIBC2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000322250.1	NM_015653		6	12	6	12
OTUD3	23252	broad.mit.edu;hgsc.bcm.edu	37	1	20216922	20216923	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr1:20216922_20216923insA	ENST00000375120.3	+	2	267_268	c.266_267insA	c.(265-270)tcacgafs	p.R90fs		NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	90	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGGACACTCACGAAATCATC	0.416																																																0																																										SO:0001589	frameshift_variant	23252			AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"""OTU domain containing"""	29038	protein-coding gene	gene with protein product		611758	"""OTU domain containing 3"""			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.267dupA	1.37:g.20216923_20216923dupA	ENSP00000364261:p.Arg90fs		O75047	Frame_Shift_Ins	INS	ENST00000375120.3	37	CCDS41279.1																																																																																				0.416	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007655.1			86	49	86	49
HSPD1	3329	broad.mit.edu;hgsc.bcm.edu	37	2	198353171	198353174	+	Frame_Shift_Del	DEL	TCTG	TCTG	-	rs376504536		TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr2:198353171_198353174delTCTG	ENST00000388968.3	-	10	1524_1527	c.1257_1260delCAGA	c.(1255-1260)gacagafs	p.DR419fs	HSPD1_ENST00000345042.2_Frame_Shift_Del_p.DR419fs	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	419					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			CATCTGTAACTCTGTCTTTCTTTT	0.441																																																0																																										SO:0001589	frameshift_variant	3329			M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"""Heat Shock Proteins / Chaperonins"""	5261	protein-coding gene	gene with protein product		118190	"""heat shock 60kD protein 1 (chaperonin)"", ""spastic paraplegia 13 (autosomal dominant)"""	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.1257_1260delCAGA	2.37:g.198353171_198353174delTCTG	ENSP00000373620:p.Asp419fs		B2R5M6|B7Z712|Q38L19|Q9UCR6	Frame_Shift_Del	DEL	ENST00000388968.3	37	CCDS33357.1																																																																																				0.441	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		57	86	57	86
PHTF2	57157	broad.mit.edu;hgsc.bcm.edu	37	7	77569563	77569564	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr7:77569563_77569564delTC	ENST00000248550.7	+	13	1760_1761	c.1684_1685delTC	c.(1684-1686)tctfs	p.S562fs	PHTF2_ENST00000416283.2_Frame_Shift_Del_p.S528fs|PHTF2_ENST00000275575.7_Frame_Shift_Del_p.S524fs|PHTF2_ENST00000424760.1_Frame_Shift_Del_p.S524fs|PHTF2_ENST00000307305.8_Frame_Shift_Del_p.S524fs|PHTF2_ENST00000422959.2_Frame_Shift_Del_p.S528fs			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	562					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GGTTCGCGTGTCTCTTGTGTGG	0.342																																																0																																										SO:0001589	frameshift_variant	57157			AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1684_1685delTC	7.37:g.77569565_77569566delTC	ENSP00000248550:p.Ser562fs		A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Frame_Shift_Del	DEL	ENST00000248550.7	37																																																																																					0.342	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		47	170	47	170
OR5D14	219436	broad.mit.edu;hgsc.bcm.edu	37	11	55563460	55563461	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr11:55563460_55563461insG	ENST00000335605.1	+	1	429_430	c.429_430insG	c.(430-432)gccfs	p.A144fs		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				AGAGGCTCTGTGCCCTGCTGGT	0.51																																																0																																										SO:0001589	frameshift_variant	219436			AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.430dupG	11.37:g.55563461_55563461dupG	ENSP00000334456:p.Ala144fs		Q6IF69|Q6IFD4|Q96RB5	Frame_Shift_Ins	INS	ENST00000335605.1	37	CCDS31508.1																																																																																				0.510	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		48	55	48	55
SCML2	10389	broad.mit.edu;hgsc.bcm.edu	37	X	18259468	18259469	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chrX:18259468_18259469delTT	ENST00000251900.4	-	15	2164_2165	c.2005_2006delAA	c.(2005-2007)aagfs	p.K669fs	SCML2_ENST00000491988.1_5'Flank|SCML2_ENST00000398048.3_3'UTR	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	669	SAM.				anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CACATCACTCTTGAGTAGGAAC	0.342																																					Esophageal Squamous(100;1252 1965 19021 35517)											0																																										SO:0001589	frameshift_variant	10389			Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"""Sterile alpha motif (SAM) domain containing"""	10581	protein-coding gene	gene with protein product		300208	"""sex comb on midleg (Drosophila)-like 2"""			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.2005_2006delAA	X.37:g.18259468_18259469delTT	ENSP00000251900:p.Lys669fs		Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Frame_Shift_Del	DEL	ENST00000251900.4	37	CCDS14185.1																																																																																				0.342	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055941.1	NM_006089		79	114	79	114
