#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_BAM_File	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ADAMTS19	171019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	129070698	129070698	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr5:129070698G>T	ENST00000274487.4	+	22	3513	c.3368G>T	c.(3367-3369)gGa>gTa	p.G1123V	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1123	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G1123V(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GGAAGACATGGAAATGAATGT	0.408																																																	1	Substitution - Missense(1)	kidney(1)											117.0	116.0	116.0					5																	129070698		2203	4300	6503	SO:0001583	missense	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3368G>T	5.37:g.129070698G>T	ENSP00000274487:p.Gly1123Val	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000274487.4	37	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481122	0.84747	.	.	ENSG00000145808	ENST00000274487	T	0.65178	-0.14	4.26	4.26	0.50523	.	0.000000	0.64402	D	0.000011	T	0.76637	0.4015	M	0.62209	1.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76069	-0.3094	9	.	.	.	.	17.9861	0.89156	0.0:0.0:1.0:0.0	.	1123	Q8TE59	ATS19_HUMAN	V	1123	ENSP00000274487:G1123V	.	G	+	2	0	ADAMTS19	129098597	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.915000	0.92740	2.661000	0.90470	0.585000	0.79938	GGA		0.408	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2		NM_133638	
APBA2	321	broad.mit.edu;hgsc.bcm.edu	37	15	29346935	29346935	+	Missense_Mutation	SNP	C	C	T	rs199985120		TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr15:29346935C>T	ENST00000558402.1	+	5	1447	c.848C>T	c.(847-849)tCg>tTg	p.S283L	APBA2_ENST00000411764.1_Missense_Mutation_p.S283L|APBA2_ENST00000561069.1_Missense_Mutation_p.S283L|APBA2_ENST00000558259.1_Missense_Mutation_p.S283L|APBA2_ENST00000558330.1_Missense_Mutation_p.S283L			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	283					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.S283L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGGCCCAAGTCGCTGAACCTC	0.672																																																	1	Substitution - Missense(1)	kidney(1)											22.0	25.0	24.0					15																	29346935		2203	4299	6502	SO:0001583	missense	321			AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.848C>T	15.37:g.29346935C>T	ENSP00000453293:p.Ser283Leu	Somatic		WXS	Illumina HiSeq	Phase_I	E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746657	0.89663	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.60424	0.19	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000001	T	0.74898	0.3777	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.943;0.995;0.943	T	0.75880	-0.3161	10	0.45353	T	0.12	.	17.2277	0.86975	0.0:1.0:0.0:0.0	.	283;283;283	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	L	283	ENSP00000409312:S283L	ENSP00000219865:S283L	S	+	2	0	APBA2	27134227	1.000000	0.71417	0.973000	0.42090	0.897000	0.52465	5.469000	0.66749	2.280000	0.76307	0.650000	0.86243	TCG		0.672	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3		NM_005503	
C6orf47	57827	broad.mit.edu;hgsc.bcm.edu	37	6	31627292	31627292	+	Silent	SNP	A	A	G			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr6:31627292A>G	ENST00000375911.1	-	1	1257	c.433T>C	c.(433-435)Ttg>Ctg	p.L145L	C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47	145						cytoplasm (GO:0005737)		p.L145L(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						GGTTTCTCCAATGGGGCTCCT	0.627																																																	1	Substitution - coding silent(1)	kidney(1)											59.0	69.0	66.0					6																	31627292		1510	2709	4219	SO:0001819	synonymous_variant	57827			AF129756	CCDS34399.1	6p21.3	2011-12-13			ENSG00000204439	ENSG00000204439			19076	protein-coding gene	gene with protein product						2477242	Standard	NM_021184		Approved	D6S53E, G4	uc003nvm.1	O95873	OTTHUMG00000031172	ENST00000375911.1:c.433T>C	6.37:g.31627292A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B0UXA1|B0UZ50|Q5SSS6|Q95IG0	Silent	SNP	ENST00000375911.1	37	CCDS34399.1																																																																																				0.627	C6orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076324.1		NM_021184	
CC2D2A	57545	broad.mit.edu;hgsc.bcm.edu	37	4	15511767	15511767	+	Silent	SNP	G	G	A			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr4:15511767G>A	ENST00000503292.1	+	8	624	c.444G>A	c.(442-444)ggG>ggA	p.G148G	CC2D2A_ENST00000413206.1_Silent_p.G148G|CC2D2A_ENST00000389652.5_Silent_p.G99G|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000424120.1_Silent_p.G148G	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	148					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)		p.G99G(1)|p.G148G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						TATAGCCAGGGAAAGAGGTAG	0.408																																																	2	Substitution - coding silent(2)	kidney(2)											90.0	82.0	85.0					4																	15511767		1845	4090	5935	SO:0001819	synonymous_variant	57545			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.444G>A	4.37:g.15511767G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Silent	SNP	ENST00000503292.1	37	CCDS47026.1																																																																																				0.408	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2		NM_001080522	
CNGB3	54714	hgsc.bcm.edu;ucsc.edu	37	8	87683239	87683244	+	In_Frame_Del	DEL	TCTTTG	TCTTTG	-			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	TCTTTG	TCTTTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr8:87683239_87683244delTCTTTG	ENST00000320005.5	-	4	468_473	c.421_426delCAAAGA	c.(421-426)caaagadel	p.QR141del		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	141					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.Q141K(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AGAGGGCTGTTCTTTGACGCATTCTT	0.466																																																	1	Substitution - Missense(1)	lung(1)																																								SO:0001651	inframe_deletion	54714			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.421_426delCAAAGA	8.37:g.87683239_87683244delTCTTTG	ENSP00000316605:p.Gln141_Arg142del	Somatic		WXS	Illumina HiSeq	Phase_I	C9JA51|Q9NRE9	In_Frame_Del	DEL	ENST00000320005.5	37	CCDS6244.1																																																																																				0.466	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1		NM_019098	
COL5A3	50509	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	10071471	10071471	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr19:10071471G>T	ENST00000264828.3	-	66	5032	c.4947C>A	c.(4945-4947)taC>taA	p.Y1649*		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1649	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.Y1649*(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCTGGCAGGAGTAGGTGAAGT	0.592																																																	1	Substitution - Nonsense(1)	kidney(1)											86.0	76.0	79.0					19																	10071471		2203	4300	6503	SO:0001587	stop_gained	50509			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.4947C>A	19.37:g.10071471G>T	ENSP00000264828:p.Tyr1649*	Somatic		WXS	Illumina HiSeq	Phase_I	Q9NZQ6	Nonsense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	42	9.625954	0.99223	.	.	ENSG00000080573	ENST00000264828	.	.	.	4.03	4.03	0.46877	.	0.401526	0.23077	U	0.052198	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5211	0.27629	0.1163:0.0:0.8837:0.0	.	.	.	.	X	1649	.	ENSP00000264828:Y1649X	Y	-	3	2	COL5A3	9932471	1.000000	0.71417	0.718000	0.30602	0.575000	0.36095	3.180000	0.50895	2.092000	0.63282	0.462000	0.41574	TAC		0.592	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1		NM_015719	
CREM	1390	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	35495906	35495906	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr10:35495906G>A	ENST00000395895.2	+	9	1027	c.865G>A	c.(865-867)Gga>Aga	p.G289R	CREM_ENST00000342105.3_Missense_Mutation_p.G173R|CREM_ENST00000337656.4_Missense_Mutation_p.G228R|CREM_ENST00000374728.3_Missense_Mutation_p.G149R|CREM_ENST00000490511.1_Missense_Mutation_p.G41R|CREM_ENST00000429130.3_Missense_Mutation_p.G273R|CREM_ENST00000463314.1_Missense_Mutation_p.G66R|CREM_ENST00000354759.3_Missense_Mutation_p.G177R|CREM_ENST00000488328.1_Missense_Mutation_p.G37R|CREM_ENST00000374734.3_Missense_Mutation_p.G165R|CREM_ENST00000488741.1_Missense_Mutation_p.G31R|CREM_ENST00000361599.4_Missense_Mutation_p.G198R|CREM_ENST00000348787.2_Missense_Mutation_p.G149R|CREM_ENST00000474362.1_Missense_Mutation_p.G24R|CREM_ENST00000479070.1_Missense_Mutation_p.G240R|CREM_ENST00000487763.1_Missense_Mutation_p.G49R|CREM_ENST00000374721.3_Missense_Mutation_p.G198R|CREM_ENST00000473940.1_Missense_Mutation_p.G49R|CREM_ENST00000345491.3_Missense_Mutation_p.G228R|CREM_ENST00000468236.1_Missense_Mutation_p.G53R|CREM_ENST00000463960.1_Missense_Mutation_p.G122R|CREM_ENST00000460270.1_Missense_Mutation_p.G24R|CREM_ENST00000344351.5_Missense_Mutation_p.G24R|CREM_ENST00000333809.8_Missense_Mutation_p.G277R|CREM_ENST00000356917.5_Missense_Mutation_p.G37R|CREM_ENST00000439705.1_Missense_Mutation_p.G214R|CREM_ENST00000484283.1_Missense_Mutation_p.G147R|CREM_ENST00000474931.1_Missense_Mutation_p.G41R|CREM_ENST00000395887.3_Missense_Mutation_p.G210R			Q03060	CREM_HUMAN	cAMP responsive element modulator	289					cell differentiation (GO:0030154)|glycosphingolipid metabolic process (GO:0006687)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding protein binding (GO:0008140)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G228R(1)|p.G210R(1)|p.G41R(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						TGCATCGCCCGGAAGTTTGCA	0.527																																																	3	Substitution - Missense(3)	kidney(3)											109.0	107.0	108.0					10																	35495906		2203	4300	6503	SO:0001583	missense	1390				CCDS7180.1, CCDS7181.1, CCDS7182.1, CCDS7183.1, CCDS7184.1, CCDS7185.1, CCDS7186.1, CCDS7187.1, CCDS7188.1, CCDS31181.1, CCDS53519.1, CCDS53520.1, CCDS53517.1, CCDS53518.1, CCDS53521.1, CCDS58074.1, CCDS58075.1, CCDS58076.1	10p12.1-p11.1	2013-01-10			ENSG00000095794	ENSG00000095794		"""basic leucine zipper proteins"""	2352	protein-coding gene	gene with protein product		123812				1461747, 7916662	Standard	NM_182717		Approved	hCREM-2	uc001iyb.3	Q03060	OTTHUMG00000017953	ENST00000395895.2:c.865G>A	10.37:g.35495906G>A	ENSP00000379232:p.Gly289Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A8K014|A8K3J7|A8K6A1|A8MPQ2|B4DXC1|C9J785|C9JZ10|E9PAR4|E9PHM1|O75519|Q14501|Q14503|Q14504|Q14505|Q14506|Q15731|Q16114|Q16116|Q5T9H7|Q5W1A6|Q5W1A7|Q5W1A8|Q5W1A9|Q5W1B0|Q5W1B2|Q7Z2Q6|Q8IVD4|Q96AG7|Q9NZ98|Q9NZ99|Q9NZB9	Missense_Mutation	SNP	ENST00000395895.2	37		.	.	.	.	.	.	.	.	.	.	G	15.89	2.965995	0.53507	.	.	ENSG00000095794	ENST00000474362;ENST00000460270;ENST00000354759;ENST00000345491;ENST00000395895;ENST00000374728;ENST00000487132;ENST00000333809;ENST00000439705;ENST00000374734;ENST00000337656;ENST00000479070;ENST00000462058;ENST00000429130;ENST00000489627;ENST00000493508;ENST00000490263;ENST00000374721;ENST00000348787;ENST00000374722;ENST00000361599;ENST00000484283;ENST00000395887;ENST00000494479;ENST00000463314;ENST00000342105;ENST00000463960;ENST00000487763;ENST00000473940;ENST00000488328;ENST00000356917;ENST00000488741;ENST00000474931;ENST00000468236;ENST00000344351;ENST00000490511	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58210	1.45;1.45;0.37;0.75;0.74;0.76;0.43;0.35;0.36;0.35;0.35;0.76;0.75;0.76;0.75;0.37;0.72;1.43;1.34;0.78;0.4;1.34;1.35;1.37;1.4;1.42;1.38;1.33;1.45;1.36	5.83	4.93	0.64822	.	0.217039	0.47455	D	0.000231	T	0.64170	0.2574	L	0.53249	1.67	0.50171	D	0.999858	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P	0.89917	0.983;0.999;0.997;1.0;0.995;0.969;0.998;1.0;0.995;1.0;1.0;1.0;0.999;1.0;1.0;1.0;0.807	P;D;P;D;D;P;D;D;P;D;D;D;P;D;D;D;B	0.97110	0.579;0.928;0.854;1.0;0.918;0.552;0.952;0.977;0.791;1.0;0.995;0.996;0.895;0.986;1.0;1.0;0.356	T	0.61008	-0.7149	10	0.27082	T	0.32	-10.6775	10.4413	0.44466	0.0694:0.135:0.7956:0.0	.	41;41;31;37;37;49;49;277;289;173;147;198;165;228;149;228;177	A8K014;E9PAR4;A8K6A1;A8K3J7;Q03060-11;Q5W1B2;Q03060-10;Q03060-1;Q03060;Q03060-7;Q03060-13;Q03060-12;A8MPQ2;E9PHM1;Q5W1A7;Q03060-16;Q5W1B0	.;.;.;.;.;.;.;.;CREM_HUMAN;.;.;.;.;.;.;.;.	R	24;24;177;228;289;149;149;277;214;165;228;240;198;273;133;82;198;261;149;261;198;147;210;107;66;173;122;49;49;37;37;31;41;53;24;41	ENSP00000419018:G24R;ENSP00000420437:G24R;ENSP00000346804:G177R;ENSP00000265372:G228R;ENSP00000379232:G289R;ENSP00000363860:G149R;ENSP00000418798:G149R;ENSP00000333055:G277R;ENSP00000409220:G214R;ENSP00000363866:G165R;ENSP00000337138:G228R;ENSP00000420511:G240R;ENSP00000393538:G273R;ENSP00000345384:G149R;ENSP00000354593:G198R;ENSP00000417165:G147R;ENSP00000379225:G210R;ENSP00000417399:G107R;ENSP00000418336:G66R;ENSP00000341875:G173R;ENSP00000419684:G122R;ENSP00000417807:G49R;ENSP00000420681:G49R;ENSP00000417460:G37R;ENSP00000349387:G37R;ENSP00000419075:G31R;ENSP00000417562:G41R;ENSP00000419810:G53R;ENSP00000344365:G24R;ENSP00000417327:G41R	ENSP00000333055:G277R	G	+	1	0	CREM	35535912	1.000000	0.71417	0.612000	0.29024	0.204000	0.24138	5.149000	0.64863	1.451000	0.47736	0.655000	0.94253	GGA		0.527	CREM-203	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001881	
DNAH3	55567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	21151927	21151927	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr16:21151927A>C	ENST00000261383.3	-	5	625	c.626T>G	c.(625-627)cTc>cGc	p.L209R	DNAH3_ENST00000415178.1_Missense_Mutation_p.L209R|DNAH3_ENST00000575491.1_5'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	209	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.L209R(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CATGACATCGAGCTGCTGTTC	0.483																																																	2	Substitution - Missense(2)	kidney(2)											269.0	216.0	234.0					16																	21151927		2201	4300	6501	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.626T>G	16.37:g.21151927A>C	ENSP00000261383:p.Leu209Arg	Somatic		WXS	Illumina HiSeq	Phase_I	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	A	13.57	2.276614	0.40294	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.23754	1.89;2.07	5.17	5.17	0.71159	.	0.439260	0.23369	N	0.048938	T	0.22820	0.0551	L	0.39898	1.24	0.31067	N	0.713423	B;B	0.28233	0.0;0.204	B;B	0.27380	0.001;0.079	T	0.12344	-1.0551	10	0.32370	T	0.25	.	14.1454	0.65347	1.0:0.0:0.0:0.0	.	209;180	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	R	209;209;180	ENSP00000261383:L209R;ENSP00000394245:L209R	ENSP00000261383:L209R	L	-	2	0	DNAH3	21059428	0.956000	0.32656	0.710000	0.30468	0.766000	0.43426	6.778000	0.75043	2.168000	0.68352	0.533000	0.62120	CTC		0.483	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1		NM_017539	
DSCAML1	57453	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	117352764	117352764	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr11:117352764C>A	ENST00000321322.6	-	12	2654	c.2653G>T	c.(2653-2655)Ggg>Tgg	p.G885W	DSCAML1_ENST00000527706.1_Missense_Mutation_p.G615W	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	825	Ig-like C2-type 9.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.G885W(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ACTGTGTCCCCCTTCTCCCAG	0.627																																																	1	Substitution - Missense(1)	kidney(1)											171.0	120.0	137.0					11																	117352764		2201	4296	6497	SO:0001583	missense	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2653G>T	11.37:g.117352764C>A	ENSP00000315465:p.Gly885Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408663	0.83340	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.42131	0.98;0.98	3.89	3.89	0.44902	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56630	0.1998	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.62101	-0.6925	9	0.72032	D	0.01	.	16.1057	0.81220	0.0:1.0:0.0:0.0	.	825	Q8TD84	DSCL1_HUMAN	W	615;885;592	ENSP00000434335:G615W;ENSP00000315465:G885W	ENSP00000315465:G885W	G	-	1	0	DSCAML1	116857974	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.645000	0.83430	2.000000	0.58554	0.485000	0.47835	GGG		0.627	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2		NM_020693	
DSTYK	25778	hgsc.bcm.edu;ucsc.edu	37	1	205129247	205129247	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr1:205129247delA	ENST00000367162.3	-	8	2130	c.2100delT	c.(2098-2100)tatfs	p.Y700fs	DSTYK_ENST00000367161.3_Frame_Shift_Del_p.Y700fs|DSTYK_ENST00000367160.4_Intron	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	700	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						CCCACCTCATATAGTGAAATT	0.473																																																	0													142.0	144.0	143.0					1																	205129247		2203	4300	6503	SO:0001589	frameshift_variant	25778			AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.2100delT	1.37:g.205129247delA	ENSP00000356130:p.Tyr700fs	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Frame_Shift_Del	DEL	ENST00000367162.3	37	CCDS1451.1																																																																																				0.473	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1		NM_015375	
ECSIT	51295	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	11618640	11618640	+	Silent	SNP	G	G	A			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr19:11618640G>A	ENST00000270517.7	-	6	957	c.822C>T	c.(820-822)gcC>gcT	p.A274A	ECSIT_ENST00000252440.7_Intron|CTC-398G3.6_ENST00000585656.1_5'Flank|ECSIT_ENST00000591352.1_5'UTR|ECSIT_ENST00000592312.1_Missense_Mutation_p.P205L|ECSIT_ENST00000588998.1_Intron|ZNF653_ENST00000293771.5_5'Flank|ECSIT_ENST00000591104.1_Intron|ZNF653_ENST00000593191.1_5'Flank|ECSIT_ENST00000417981.2_Silent_p.A60A	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	274					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.A274A(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						GGGCCAGGGCGGCCTGCTGAT	0.637																																																	1	Substitution - coding silent(1)	kidney(1)											30.0	33.0	32.0					19																	11618640		2203	4300	6503	SO:0001819	synonymous_variant	51295			BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"""Mitochondrial respiratory chain complex assembly factors"""	29548	protein-coding gene	gene with protein product	"""signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"""	608388	"""ECSIT homolog (Drosophila)"""			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.822C>T	19.37:g.11618640G>A		Somatic		WXS	Illumina HiSeq	Phase_I	E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Silent	SNP	ENST00000270517.7	37	CCDS12262.1																																																																																				0.637	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2		NM_016581	
EFCAB5	374786	broad.mit.edu;hgsc.bcm.edu	37	17	28405489	28405489	+	Silent	SNP	G	G	A			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr17:28405489G>A	ENST00000394835.3	+	15	3186	c.2994G>A	c.(2992-2994)ccG>ccA	p.P998P	EFCAB5_ENST00000320856.5_Silent_p.P874P|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	998							calcium ion binding (GO:0005509)	p.P998P(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCCTAGAGCCGGTGTATAGTG	0.483																																																	1	Substitution - coding silent(1)	kidney(1)											40.0	41.0	41.0					17																	28405489		1952	4142	6094	SO:0001819	synonymous_variant	374786			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.2994G>A	17.37:g.28405489G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Silent	SNP	ENST00000394835.3	37	CCDS11254.2																																																																																				0.483	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4		NM_198529	
FASN	2194	broad.mit.edu;hgsc.bcm.edu	37	17	80046746	80046746	+	Silent	SNP	G	G	A	rs202206277		TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr17:80046746G>A	ENST00000306749.2	-	15	2529	c.2311C>T	c.(2311-2313)Ctg>Ttg	p.L771L		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	771	Acyl and malonyl transferases. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.L771L(1)		central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CCACGCTTCAGGACAGCCTGG	0.672																																					Colon(59;314 1043 11189 28578 32273)												1	Substitution - coding silent(1)	kidney(1)											33.0	33.0	33.0					17																	80046746		2201	4297	6498	SO:0001819	synonymous_variant	2194			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.2311C>T	17.37:g.80046746G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	CCDS11801.1																																																																																				0.672	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1		NM_004104	
FCRL1	115350	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	157767975	157767975	+	Missense_Mutation	SNP	G	G	T	rs150869330		TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr1:157767975G>T	ENST00000368176.3	-	8	1157	c.1090C>A	c.(1090-1092)Cag>Aag	p.Q364K	FCRL1_ENST00000491942.1_Missense_Mutation_p.Q364K|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000358292.3_Missense_Mutation_p.Q325K	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	364						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q364K(1)|p.Q325K(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GGCTGTAGCTGCCCTGGGGTA	0.498																																					GBM(54;482 1003 11223 30131 35730)												2	Substitution - Missense(2)	kidney(2)											102.0	97.0	98.0					1																	157767975		2203	4300	6503	SO:0001583	missense	115350			BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.1090C>A	1.37:g.157767975G>T	ENSP00000357158:p.Gln364Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.316426	0.23908	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.41400	1.0;1.26;1.27	4.79	1.62	0.23740	.	1.737650	0.04129	N	0.317616	T	0.17408	0.0418	M	0.65975	2.015	0.09310	N	1	B;B;B	0.22146	0.037;0.065;0.022	B;B;B	0.17433	0.018;0.017;0.008	T	0.11817	-1.0572	10	0.22706	T	0.39	.	2.9404	0.05828	0.0986:0.1801:0.5353:0.1859	.	325;364;364	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	K	325;364;364	ENSP00000351039:Q325K;ENSP00000357158:Q364K;ENSP00000418130:Q364K	ENSP00000351039:Q325K	Q	-	1	0	FCRL1	156034599	0.148000	0.22702	0.001000	0.08648	0.001000	0.01503	1.540000	0.36115	0.703000	0.31848	0.591000	0.81541	CAG		0.498	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1		NM_052938	
FRMPD2	143162	broad.mit.edu;hgsc.bcm.edu	37	10	49420020	49420021	+	Missense_Mutation	DNP	CC	CC	GT			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr10:49420020_49420021CC>GT	ENST00000374201.3	-	13	1889_1890	c.1587_1588GG>AC	c.(1585-1590)gaGGat>gaACat	p.D530H	FRMPD2_ENST00000407470.4_Missense_Mutation_p.D498H|FRMPD2_ENST00000305531.3_Missense_Mutation_p.D505H	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	530	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.D530H(2)|p.E529E(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AGCTCAGCATCCTCTCCCCACA	0.554																																																	3	Substitution - Missense(2)|Substitution - coding silent(1)	kidney(3)																																								SO:0001583	missense	143162			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1587_1588delinsGT	10.37:g.49420020_49420021delinsGT	ENSP00000363317:p.Asp530His	Somatic		WXS	Illumina HiSeq	Phase_I	B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation|Silent	SNP	ENST00000374201.3	37	CCDS31195.1																																																																																				0.554	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3		NM_152428	
GGT1	2678	broad.mit.edu;hgsc.bcm.edu	37	22	25010806	25010806	+	Silent	SNP	G	G	A			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr22:25010806G>A	ENST00000400382.1	+	6	983	c.228G>A	c.(226-228)ggG>ggA	p.G76G	GGT1_ENST00000248923.4_Silent_p.G76G|GGT1_ENST00000406383.2_Silent_p.G76G|GGT1_ENST00000400380.1_Silent_p.G76G|GGT1_ENST00000400383.1_Silent_p.G76G			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	76					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.G76G(1)		breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TGTGTGTGGGGCTCATGAATG	0.617																																																	1	Substitution - coding silent(1)	kidney(1)											35.0	38.0	37.0					22																	25010806		2034	4166	6200	SO:0001819	synonymous_variant	2678			M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.228G>A	22.37:g.25010806G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q08247|Q14404|Q8TBS1|Q9UMK1	Silent	SNP	ENST00000400382.1	37	CCDS42992.1																																																																																				0.617	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1		NM_013430	
GJA5	2702	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	147230622	147230622	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr1:147230622C>T	ENST00000271348.2	-	2	886	c.725G>A	c.(724-726)cGg>cAg	p.R242Q	GJA5_ENST00000369237.1_Missense_Mutation_p.R242Q|RP11-433J22.2_ENST00000428911.1_RNA	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	242					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)	p.R242Q(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CATGTGCTGCCGCGGTTTGAC	0.572																																																	1	Substitution - Missense(1)	kidney(1)											57.0	61.0	59.0					1																	147230622		2203	4300	6503	SO:0001583	missense	2702				CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"""Ion channels / Gap junction proteins (connexins)"""	4279	protein-coding gene	gene with protein product	"""connexin 40"""	121013	"""gap junction protein, alpha 5, 40kD (connexin 40)"", ""gap junction protein, alpha 5, 40kDa (connexin 40)"""				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.725G>A	1.37:g.147230622C>T	ENSP00000271348:p.Arg242Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T3B6|Q5U0N6	Missense_Mutation	SNP	ENST00000271348.2	37	CCDS929.1	.	.	.	.	.	.	.	.	.	.	C	6.210	0.406812	0.11754	.	.	ENSG00000143140	ENST00000271348;ENST00000369237;ENST00000430508	D;D;D	0.97811	-4.51;-4.51;-4.55	5.68	-5.09	0.02920	.	3.468090	0.00447	N	0.000087	D	0.86543	0.5958	L	0.29908	0.895	0.09310	N	1	B	0.18741	0.03	B	0.08055	0.003	D	0.87961	0.2730	10	0.13470	T	0.59	.	6.819	0.23847	0.0:0.4313:0.1955:0.3732	.	242	P36382	CXA5_HUMAN	Q	242	ENSP00000271348:R242Q;ENSP00000358240:R242Q;ENSP00000407645:R242Q	ENSP00000271348:R242Q	R	-	2	0	GJA5	145697246	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.121000	0.10643	-1.401000	0.02058	0.563000	0.77884	CGG		0.572	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2		NM_181703	
GLI2	2736	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	121742131	121742131	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr2:121742131G>T	ENST00000452319.1	+	12	1828	c.1768G>T	c.(1768-1770)Ggc>Tgc	p.G590C	GLI2_ENST00000361492.4_Missense_Mutation_p.G590C|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Missense_Mutation_p.G262C					GLI family zinc finger 2									p.G590C(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AACGGTCCACGGCCCAGATGC	0.597																																																	1	Substitution - Missense(1)	kidney(1)											145.0	135.0	139.0					2																	121742131		2203	4300	6503	SO:0001583	missense	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1768G>T	2.37:g.121742131G>T	ENSP00000390436:p.Gly590Cys	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000452319.1	37	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717933	0.89205	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.21361	2.01;2.01;4.38	4.75	4.75	0.60458	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.49677	0.1571	M	0.78049	2.395	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;0.994	T	0.55630	-0.8111	10	0.87932	D	0	.	17.9464	0.89040	0.0:0.0:1.0:0.0	.	590;573;245;245;262	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	C	590;590;262	ENSP00000390436:G590C;ENSP00000354586:G590C;ENSP00000312694:G262C	ENSP00000312694:G262C	G	+	1	0	GLI2	121458601	1.000000	0.71417	0.992000	0.48379	0.876000	0.50452	9.648000	0.98483	2.451000	0.82905	0.561000	0.74099	GGC		0.597	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3		NM_005270	
GUCY2F	2986	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	108636245	108636245	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chrX:108636245C>A	ENST00000218006.2	-	13	2755	c.2464G>T	c.(2464-2466)Gat>Tat	p.D822Y		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	822					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)	p.D822Y(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AGCATAGAATCAATAATATTG	0.358																																																	1	Substitution - Missense(1)	kidney(1)											129.0	120.0	123.0					X																	108636245		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.2464G>T	X.37:g.108636245C>A	ENSP00000218006:p.Asp822Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.736950	0.69304	.	.	ENSG00000101890	ENST00000218006	T	0.62105	0.05	4.39	4.39	0.52855	Protein kinase-like domain (1);	0.051837	0.85682	D	0.000000	T	0.81777	0.4894	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85626	0.1267	10	0.87932	D	0	.	13.7657	0.62992	0.0:1.0:0.0:0.0	.	822	P51841	GUC2F_HUMAN	Y	822	ENSP00000218006:D822Y	ENSP00000218006:D822Y	D	-	1	0	GUCY2F	108522901	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	7.593000	0.82686	2.418000	0.82041	0.513000	0.50165	GAT		0.358	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1		NM_001522	
MROH2B	133558	hgsc.bcm.edu	37	5	41052635	41052635	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr5:41052635C>G	ENST00000399564.4	-	12	1612	c.1162G>C	c.(1162-1164)Gaa>Caa	p.E388Q	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	388																	TCCCGAGCTTCAATATAGGAC	0.408																																																	0													92.0	86.0	88.0					5																	41052635		1873	4097	5970	SO:0001583	missense	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1162G>C	5.37:g.41052635C>G	ENSP00000382476:p.Glu388Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367638	0.82463	.	.	ENSG00000171495	ENST00000296803;ENST00000399564	T	0.08984	3.03	5.53	5.53	0.82687	Armadillo-type fold (1);	0.000000	0.53938	D	0.000046	T	0.27629	0.0679	M	0.72118	2.19	0.35063	D	0.761749	D	0.76494	0.999	D	0.83275	0.996	T	0.15694	-1.0428	10	0.38643	T	0.18	.	14.9502	0.71067	0.0:1.0:0.0:0.0	.	388	Q7Z745	HTRB2_HUMAN	Q	92;388	ENSP00000382476:E388Q	ENSP00000296803:E92Q	E	-	1	0	HEATR7B2	41088392	0.988000	0.35896	0.992000	0.48379	0.993000	0.82548	3.525000	0.53502	2.586000	0.87340	0.655000	0.94253	GAA		0.408	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2		NM_173489	
HOXB13	10481	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	46805884	46805884	+	Silent	SNP	C	C	T			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr17:46805884C>T	ENST00000290295.7	-	1	656	c.72G>A	c.(70-72)ggG>ggA	p.G24G		NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	24					angiogenesis (GO:0001525)|epidermis development (GO:0008544)|epithelial cell maturation involved in prostate gland development (GO:0060743)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|response to wounding (GO:0009611)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)	p.G24G(1)		endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						CCAGATTCCGCCCCCCTCCCG	0.657																																																	1	Substitution - coding silent(1)	kidney(1)											20.0	23.0	22.0					17																	46805884		2203	4296	6499	SO:0001819	synonymous_variant	10481			U57052	CCDS11536.1	17q21.32	2014-09-17	2005-12-22		ENSG00000159184	ENSG00000159184		"""Homeoboxes / ANTP class : HOXL subclass"""	5112	protein-coding gene	gene with protein product		604607	"""homeo box B13"""			8756292, 9665387	Standard	NM_006361		Approved		uc002ioa.3	Q92826	OTTHUMG00000159900	ENST00000290295.7:c.72G>A	17.37:g.46805884C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2R878|Q96QM4|Q99810	Silent	SNP	ENST00000290295.7	37	CCDS11536.1																																																																																				0.657	HOXB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358087.3		NM_006361	
HTR2A	3356	broad.mit.edu	37	13	47470003	47470003	+	Silent	SNP	T	T	A			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr13:47470003T>A	ENST00000378688.4	-	1	170	c.39A>T	c.(37-39)tcA>tcT	p.S13S	HTR2A_ENST00000542664.1_Silent_p.S13S|HTR2A_ENST00000543956.1_Intron			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	13					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.S13S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGTTCGTAGTTGAGCTCAAAG	0.398																																																	1	Substitution - coding silent(1)	kidney(1)											94.0	93.0	93.0					13																	47470003		2203	4300	6503	SO:0001819	synonymous_variant	3356			X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.39A>T	13.37:g.47470003T>A		Somatic		WXS	Illumina GAIIx	Phase_I	B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Silent	SNP	ENST00000378688.4	37	CCDS9405.1																																																																																				0.398	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3		NM_000621	
HUWE1	10075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	53612105	53612105	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chrX:53612105C>A	ENST00000342160.3	-	39	5325	c.4868G>T	c.(4867-4869)cGc>cTc	p.R1623L	HUWE1_ENST00000262854.6_Missense_Mutation_p.R1623L|HUWE1_ENST00000218328.8_Missense_Mutation_p.R1623L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1623	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.R1623L(1)|p.R1486L(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACGCCCAGAGCGATCATCAAA	0.428																																																	2	Substitution - Missense(2)	kidney(2)											164.0	133.0	144.0					X																	53612105		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.4868G>T	X.37:g.53612105C>A	ENSP00000340648:p.Arg1623Leu	Somatic		WXS	Illumina HiSeq	Phase_I	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871625	0.91587	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.44083	0.93;0.93;1.53	5.61	5.61	0.85477	WWE domain (2);	0.129286	0.52532	D	0.000067	T	0.47154	0.1430	M	0.61703	1.905	0.80722	D	1	P;P	0.42827	0.649;0.791	B;B	0.42112	0.34;0.376	T	0.49908	-0.8889	10	0.52906	T	0.07	.	17.3373	0.87285	0.0:1.0:0.0:0.0	.	1623;1623	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	L	1623	ENSP00000340648:R1623L;ENSP00000262854:R1623L;ENSP00000218328:R1623L	ENSP00000218328:R1623L	R	-	2	0	HUWE1	53628830	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.441000	0.80485	2.361000	0.80049	0.600000	0.82982	CGC		0.428	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1		XM_497119	
KRT35	3886	broad.mit.edu;hgsc.bcm.edu	37	17	39635602	39635602	+	Silent	SNP	C	C	T			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr17:39635602C>T	ENST00000393989.1	-	3	750	c.708G>A	c.(706-708)gaG>gaA	p.E236E	KRT35_ENST00000246639.2_Silent_p.E206E	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	236	Coil 1B.|Rod.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.E236E(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				tgctcacctccTCATGGTTCT	0.592																																																	1	Substitution - coding silent(1)	kidney(1)											88.0	85.0	86.0					17																	39635602		2203	4300	6503	SO:0001819	synonymous_variant	3886			X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6453	protein-coding gene	gene with protein product	"""hard keratin type I 5"""	602764	"""keratin, hair, acidic, 5"""	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.708G>A	17.37:g.39635602C>T		Somatic		WXS	Illumina HiSeq	Phase_I	O76012|Q92651	Silent	SNP	ENST00000393989.1	37	CCDS11394.2																																																																																				0.592	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_002280	
MEGF9	1955	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	123476115	123476115	+	Silent	SNP	G	G	A			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr9:123476115G>A	ENST00000373930.3	-	1	633	c.522C>T	c.(520-522)acC>acT	p.T174T	MEGF9_ENST00000426959.1_Silent_p.T166T	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	174	Pro-rich.					integral component of membrane (GO:0016021)		p.T166T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						GGAGATCGGGGGTCGGGGTCC	0.731																																																	1	Substitution - coding silent(1)	kidney(1)											14.0	19.0	18.0					9																	123476115		1840	4041	5881	SO:0001819	synonymous_variant	1955			AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"""EGF-like-domain, multiple 5"""	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.522C>T	9.37:g.123476115G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z315|O75098	Silent	SNP	ENST00000373930.3	37	CCDS48010.2																																																																																				0.731	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1		NM_001080497	
MFGE8	4240	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	89449935	89449935	+	Silent	SNP	G	G	A			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr15:89449935G>A	ENST00000566497.1	-	4	523	c.462C>T	c.(460-462)taC>taT	p.Y154Y	MFGE8_ENST00000539437.1_Silent_p.Y146Y|MFGE8_ENST00000542878.1_Silent_p.Y110Y|MFGE8_ENST00000268150.8_Silent_p.Y154Y|MFGE8_ENST00000268151.7_Silent_p.Y154Y|MFGE8_ENST00000559997.1_Intron			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	154	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)	p.Y154Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					AGGCCTTCAGGTACTCATGAC	0.537																																																	1	Substitution - coding silent(1)	kidney(1)											105.0	92.0	96.0					15																	89449935		2200	4299	6499	SO:0001819	synonymous_variant	4240			U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"""sperm surface protein hP47"""	602281	"""sperm associated antigen 10"""	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.462C>T	15.37:g.89449935G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Silent	SNP	ENST00000566497.1	37	CCDS10347.1																																																																																				0.537	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000432804.1		NM_005928	
MPO	4353	broad.mit.edu	37	17	56350261	56350261	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr17:56350261A>G	ENST00000225275.3	-	10	1816	c.1640T>C	c.(1639-1641)cTc>cCc	p.L547P	MPO_ENST00000340482.3_Missense_Mutation_p.L579P|MPO_ENST00000578493.1_5'Flank	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	547					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.L547P(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	GAGGCCCCGGAGGATGGGGTC	0.567																																																	1	Substitution - Missense(1)	kidney(1)											93.0	101.0	98.0					17																	56350261		2203	4300	6503	SO:0001583	missense	4353				CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1640T>C	17.37:g.56350261A>G	ENSP00000225275:p.Leu547Pro	Somatic		WXS	Illumina GAIIx	Phase_I	A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.243384	0.79912	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.73789	-0.78;-0.78	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000001	D	0.85635	0.5742	H	0.97214	3.96	0.80722	D	1	P	0.44776	0.843	P	0.45099	0.469	D	0.90252	0.4294	10	0.87932	D	0	-26.5272	14.0657	0.64826	1.0:0.0:0.0:0.0	.	547	P05164	PERM_HUMAN	P	579;547	ENSP00000344419:L579P;ENSP00000225275:L547P	ENSP00000225275:L547P	L	-	2	0	MPO	53705260	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.310000	0.96267	1.909000	0.55274	0.459000	0.35465	CTC		0.567	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			
MSN	4478	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	64959702	64959702	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chrX:64959702C>T	ENST00000360270.5	+	13	1853	c.1681C>T	c.(1681-1683)Cag>Tag	p.Q561*		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	561					cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)	p.Q561*(1)	MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						GACCCTGCGCCAGATCCGGCA	0.552			T	ALK	ALCL																																			Dom	yes		X	Xq11.2-q12	4478	moesin		L	1	Substitution - Nonsense(1)	kidney(1)											124.0	99.0	107.0					X																	64959702		2203	4300	6503	SO:0001587	stop_gained	4478			M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.1681C>T	X.37:g.64959702C>T	ENSP00000353408:p.Gln561*	Somatic		WXS	Illumina HiSeq	Phase_I		Nonsense_Mutation	SNP	ENST00000360270.5	37	CCDS14382.1	.	.	.	.	.	.	.	.	.	.	C	41	8.545476	0.98857	.	.	ENSG00000147065	ENST00000360270	.	.	.	5.67	5.67	0.87782	.	0.050126	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	17.135	0.86737	0.0:1.0:0.0:0.0	.	.	.	.	X	561	.	ENSP00000353408:Q561X	Q	+	1	0	MSN	64876427	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.734000	0.84928	2.368000	0.80403	0.594000	0.82650	CAG		0.552	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1		NM_002444	
NOL9	79707	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	6592628	6592628	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr1:6592628G>T	ENST00000377705.5	-	8	1462	c.1430C>A	c.(1429-1431)gCt>gAt	p.A477D		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	477					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)	p.A477D(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		AAATTCCAAAGCATCTGCAAA	0.413																																																	1	Substitution - Missense(1)	kidney(1)											151.0	154.0	153.0					1																	6592628		2203	4300	6503	SO:0001583	missense	79707			AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"""polynucleotide 5'-kinase"""					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.1430C>A	1.37:g.6592628G>T	ENSP00000366934:p.Ala477Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	ENST00000377705.5	37	CCDS80.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547811	0.45383	.	.	ENSG00000162408	ENST00000377705	T	0.46063	0.88	5.67	-10.6	0.00265	Pre-mRNA cleavage complex II Clp1 (1);	1.072830	0.07152	N	0.849205	T	0.15435	0.0372	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.13872	-1.0493	10	0.15952	T	0.53	-5.2342	7.314	0.26491	0.0845:0.5151:0.1793:0.221	.	477	Q5SY16	NOL9_HUMAN	D	477	ENSP00000366934:A477D	ENSP00000366934:A477D	A	-	2	0	NOL9	6515215	0.000000	0.05858	0.000000	0.03702	0.442000	0.32017	-2.121000	0.01322	-2.016000	0.00945	-0.397000	0.06425	GCT		0.413	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1		NM_024654	
OR51E1	143503	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	4674482	4674482	+	Silent	SNP	T	T	G			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr11:4674482T>G	ENST00000396952.5	+	2	1376	c.726T>G	c.(724-726)acT>acG	p.T242T	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T241T(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATTTGGCACTTGCGTCTCTC	0.502																																																	1	Substitution - coding silent(1)	kidney(1)											246.0	230.0	235.0					11																	4674482		2201	4298	6499	SO:0001819	synonymous_variant	143503			AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"""GPCR / Class A : Olfactory receptors"""	15194	protein-coding gene	gene with protein product		611267	"""olfactory receptor, family 51, subfamily E, member 1 pseudogene"""	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.726T>G	11.37:g.4674482T>G		Somatic		WXS	Illumina HiSeq	Phase_I	A8KAM6|Q5S4P5|Q66X57|Q6IF93	Silent	SNP	ENST00000396952.5	37	CCDS31358.2																																																																																				0.502	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347136.2		NM_152430	
PLXNC1	10154	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	94642074	94642074	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr12:94642074A>C	ENST00000258526.4	+	14	2913	c.2664A>C	c.(2662-2664)caA>caC	p.Q888H		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	888					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.Q888H(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAAATGGGCAATTAAATTGCA	0.333																																																	1	Substitution - Missense(1)	kidney(1)											49.0	52.0	51.0					12																	94642074		2203	4300	6503	SO:0001583	missense	10154			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.2664A>C	12.37:g.94642074A>C	ENSP00000258526:p.Gln888His	Somatic		WXS	Illumina HiSeq	Phase_I	Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.180267	0.38511	.	.	ENSG00000136040	ENST00000258526	T	0.08102	3.13	5.65	-1.04	0.10068	Cell surface receptor IPT/TIG (1);	1.597280	0.03013	N	0.149728	T	0.07098	0.0180	N	0.22421	0.69	0.09310	N	0.999999	B	0.33448	0.412	B	0.34722	0.188	T	0.36962	-0.9726	10	0.54805	T	0.06	.	5.7528	0.18156	0.3258:0.284:0.3901:0.0	.	888	O60486	PLXC1_HUMAN	H	888	ENSP00000258526:Q888H	ENSP00000258526:Q888H	Q	+	3	2	PLXNC1	93166205	0.000000	0.05858	0.258000	0.24420	0.912000	0.54170	0.023000	0.13533	0.141000	0.18875	0.528000	0.53228	CAA		0.333	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			
POLG2	11232	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	62474074	62474074	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr17:62474074A>T	ENST00000539111.2	-	8	1391	c.1324T>A	c.(1324-1326)Ttg>Atg	p.L442M	POLG2_ENST00000582501.1_5'Flank	NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	442					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)	extracellular vesicular exosome (GO:0070062)|mitochondrial chromosome (GO:0000262)|mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)	p.L442M(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			TCAGTAACCAAAACTGTGAAG	0.333																																					Colon(3;18 21 435 17652 48887)												1	Substitution - Missense(1)	kidney(1)											94.0	86.0	89.0					17																	62474074		2203	4298	6501	SO:0001583	missense	11232			U94703	CCDS32706.1	17q23.3	2012-05-18			ENSG00000256525	ENSG00000256525		"""DNA polymerases"""	9180	protein-coding gene	gene with protein product		604983				9153213	Standard	NM_007215		Approved	MTPOLB, HP55	uc002jei.3	Q9UHN1		ENST00000539111.2:c.1324T>A	17.37:g.62474074A>T	ENSP00000442563:p.Leu442Met	Somatic		WXS	Illumina HiSeq	Phase_I	O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Missense_Mutation	SNP	ENST00000539111.2	37	CCDS32706.1	.	.	.	.	.	.	.	.	.	.	A	11.97	1.797483	0.31777	.	.	ENSG00000256525	ENST00000539111	D	0.82984	-1.67	5.76	0.394	0.16299	Anticodon-binding (3);	0.079563	0.49305	D	0.000160	D	0.83138	0.5189	L	0.48877	1.53	0.42305	D	0.992195	P	0.51933	0.949	P	0.55615	0.78	T	0.82012	-0.0668	10	0.72032	D	0.01	-12.4569	11.1013	0.48177	0.4512:0.0:0.5488:0.0	.	442	Q9UHN1	DPOG2_HUMAN	M	442	ENSP00000442563:L442M	ENSP00000442563:L442M	L	-	1	2	POLG2	59904536	0.991000	0.36638	0.082000	0.20525	0.054000	0.15201	0.451000	0.21779	0.029000	0.15352	0.372000	0.22366	TTG		0.333	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443820.1		NM_007215	
POLR3B	55703	broad.mit.edu	37	12	106820975	106820975	+	Splice_Site	SNP	C	C	T	rs201079775		TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr12:106820975C>T	ENST00000228347.4	+	13	1324	c.1102C>T	c.(1102-1104)Ctt>Ttt	p.L368F	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Splice_Site_p.L310F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	368					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.L368F(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTTTTTTAGCTTTTATCTCT	0.274																																																	4	Substitution - Missense(4)	kidney(3)|lung(1)											10.0	11.0	10.0					12																	106820975		2176	4287	6463	SO:0001630	splice_region_variant	55703			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1102-1C>T	12.37:g.106820975C>T		Somatic		WXS	Illumina GAIIx	Phase_I	A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929826	0.92389	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	T;T;D	0.81996	-1.44;-1.44;-1.56	5.62	5.62	0.85841	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.93818	0.8023	H	0.97682	4.055	0.80722	D	1	B	0.33807	0.426	P	0.49597	0.616	D	0.93705	0.7019	9	.	.	.	-18.9461	20.02	0.97489	0.0:1.0:0.0:0.0	.	368	Q9NW08	RPC2_HUMAN	F	368;368;310;126;31	ENSP00000228347:L368F;ENSP00000445721:L310F;ENSP00000448398:L126F	.	L	+	1	0	POLR3B	105345105	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.150000	0.77403	2.809000	0.96659	0.557000	0.71058	CTT		0.274	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1		NM_018082	Missense_Mutation
RGPD3	653489	broad.mit.edu	37	2	107049575	107049575	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr2:107049575C>T	ENST00000409886.3	-	16	2459	c.2372G>A	c.(2371-2373)aGt>aAt	p.S791N	RGPD3_ENST00000304514.7_Missense_Mutation_p.S791N	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	791					protein targeting to Golgi (GO:0000042)			p.S791N(2)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GTAACTTTTACTTGGTGATAG	0.303																																																	2	Substitution - Missense(2)	kidney(2)											1.0	2.0	2.0					2																	107049575		470	1073	1543	SO:0001583	missense	653489				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2372G>A	2.37:g.107049575C>T	ENSP00000386588:p.Ser791Asn	Somatic		WXS	Illumina GAIIx	Phase_I	B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	2.330	-0.353601	0.05173	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	1.43	0.22495	.	.	.	.	.	T	0.14227	0.0344	N	0.17474	0.49	0.22666	N	0.998874	B	0.09022	0.002	B	0.06405	0.002	T	0.24799	-1.0150	9	0.37606	T	0.19	-2.9208	6.7807	0.23643	0.0:0.8425:0.0:0.1575	.	791	A6NKT7	RGPD3_HUMAN	N	791;549;791	ENSP00000386588:S791N;ENSP00000303659:S791N	ENSP00000303659:S791N	S	-	2	0	RGPD3	106416007	0.982000	0.34865	0.998000	0.56505	0.121000	0.20230	0.145000	0.16157	0.315000	0.23110	0.173000	0.16961	AGT		0.303	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1		XM_929931	
RHOT2	89941	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	722787	722787	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr16:722787G>A	ENST00000315082.4	+	17	1603	c.1489G>A	c.(1489-1491)Gac>Aac	p.D497N	RHBDL1_ENST00000352681.3_5'Flank	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	497	Miro 2.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.D497N(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				TGATGGCAGTGACCCAAAGTC	0.627																																																	1	Substitution - Missense(1)	kidney(1)											97.0	94.0	95.0					16																	722787		2199	4299	6498	SO:0001583	missense	89941			BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"""EF-hand domain containing"""	21169	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 2"""	613889	"""chromosome 16 open reading frame 39"", ""ras homolog gene family, member T2"""	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.1489G>A	16.37:g.722787G>A	ENSP00000321971:p.Asp497Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Missense_Mutation	SNP	ENST00000315082.4	37	CCDS10417.1	.	.	.	.	.	.	.	.	.	.	G	0.745	-0.774932	0.02951	.	.	ENSG00000140983	ENST00000315082	T	0.23348	1.91	4.65	0.26	0.15588	Mitochondrial Rho-like (1);MIRO (1);	0.046195	0.85682	N	0.000000	T	0.19446	0.0467	L	0.61036	1.89	0.53688	D	0.999972	B	0.13145	0.007	B	0.20384	0.029	T	0.19484	-1.0304	10	0.07325	T	0.83	-0.8209	7.1493	0.25601	0.1539:0.2594:0.5867:0.0	.	497	Q8IXI1	MIRO2_HUMAN	N	497	ENSP00000321971:D497N	ENSP00000321971:D497N	D	+	1	0	RHOT2	662788	0.989000	0.36119	0.316000	0.25252	0.383000	0.30230	1.992000	0.40737	-0.175000	0.10725	-0.802000	0.03209	GAC		0.627	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1		NM_138769	
RNF19B	127544	hgsc.bcm.edu;ucsc.edu	37	1	33402518	33402518	+	Frame_Shift_Del	DEL	G	G	-	rs201577562		TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr1:33402518delG	ENST00000373456.7	-	9	2087	c.2088delC	c.(2086-2088)cccfs	p.P696fs	RNF19B_ENST00000356990.5_3'UTR|RNF19B_ENST00000235150.4_Frame_Shift_Del_p.P695fs	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	696					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGGGGGTCGAGGGGCAGGCTG	0.592																																																	0																																										SO:0001589	frameshift_variant	127544			AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"""RING-type (C3HC4) zinc fingers"""	26886	protein-coding gene	gene with protein product		610872	"""IBR domain containing 3"""	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.2088delC	1.37:g.33402518delG	ENSP00000362555:p.Pro696fs	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Frame_Shift_Del	DEL	ENST00000373456.7	37	CCDS372.2																																																																																				0.592	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3		NM_153341	
SERPINA1	5265	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	94844895	94844895	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr14:94844895G>T	ENST00000448921.1	-	7	1720	c.1148C>A	c.(1147-1149)tCt>tAt	p.S383Y	SERPINA1_ENST00000437397.1_Missense_Mutation_p.S383Y|SERPINA1_ENST00000393088.4_Missense_Mutation_p.S383Y|SERPINA1_ENST00000440909.1_Missense_Mutation_p.S383Y|SERPINA1_ENST00000449399.3_Missense_Mutation_p.S383Y|SERPINA1_ENST00000404814.4_Missense_Mutation_p.S383Y|SERPINA1_ENST00000393087.4_Missense_Mutation_p.S383Y|SERPINA1_ENST00000355814.4_Missense_Mutation_p.S383Y	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	383	RCL.	Reactive bond.			acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S383Y(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGGGGGGATAGACATGGGTAT	0.507																																																	1	Substitution - Missense(1)	kidney(1)											114.0	107.0	109.0					14																	94844895		2203	4300	6503	SO:0001583	missense	5265			X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.1148C>A	14.37:g.94844895G>T	ENSP00000416066:p.Ser383Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Missense_Mutation	SNP	ENST00000448921.1	37	CCDS9925.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438925	0.43326	.	.	ENSG00000197249	ENST00000440909;ENST00000448921;ENST00000437397;ENST00000355814;ENST00000393087;ENST00000393088;ENST00000404814;ENST00000449399	D;D;D;D;D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55;-2.55;-2.55;-2.55;-2.55	4.78	1.92	0.25849	Serpin domain (3);	0.945959	0.08701	N	0.906470	D	0.92401	0.7588	M	0.93150	3.385	0.09310	N	0.999994	P	0.36125	0.538	P	0.44597	0.454	T	0.83054	-0.0151	10	0.51188	T	0.08	.	4.9987	0.14253	0.2547:0.1543:0.591:0.0	.	383	P01009	A1AT_HUMAN	Y	383	ENSP00000390299:S383Y;ENSP00000416066:S383Y;ENSP00000408474:S383Y;ENSP00000348068:S383Y;ENSP00000376802:S383Y;ENSP00000376803:S383Y;ENSP00000385960:S383Y;ENSP00000416354:S383Y	ENSP00000348068:S383Y	S	-	2	0	SERPINA1	93914648	0.036000	0.19791	0.000000	0.03702	0.001000	0.01503	1.394000	0.34509	0.231000	0.21079	0.655000	0.94253	TCT		0.507	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2		NM_001002235	
SGCD	6444	broad.mit.edu;ucsc.edu	37	5	156074477	156074477	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr5:156074477C>T	ENST00000435422.3	+	6	990	c.503C>T	c.(502-504)gCg>gTg	p.A168V	SGCD_ENST00000517913.1_Missense_Mutation_p.A169V|SGCD_ENST00000337851.4_Missense_Mutation_p.A169V|SGCD_ENST00000447401.1_Missense_Mutation_p.A169V	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	168					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)		p.A169V(1)		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)			TTTACAGGAGCGGAGGGCACA	0.433																																																	1	Substitution - Missense(1)	kidney(1)											95.0	89.0	91.0					5																	156074477		1927	4133	6060	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.503C>T	5.37:g.156074477C>T	ENSP00000403003:p.Ala168Val	Somatic		WXS	Illumina GAIIx	Phase_I	A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP	ENST00000435422.3	37	CCDS47327.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.636998	0.67130	.	.	ENSG00000170624	ENST00000517913;ENST00000435422;ENST00000337851;ENST00000447401	D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5	5.71	5.71	0.89125	.	0.101427	0.64402	D	0.000002	D	0.95124	0.8420	L	0.29908	0.895	0.58432	D	0.999999	D;D;D	0.89917	0.994;0.992;1.0	P;P;D	0.80764	0.734;0.615;0.994	D	0.93986	0.7262	10	0.30854	T	0.27	-12.6482	18.0384	0.89312	0.0:1.0:0.0:0.0	.	168;169;169	Q92629;Q92629-2;Q92629-3	SGCD_HUMAN;.;.	V	169;168;169;169	ENSP00000429378:A169V;ENSP00000403003:A168V;ENSP00000338343:A169V;ENSP00000408324:A169V	ENSP00000338343:A169V	A	+	2	0	SGCD	156007055	1.000000	0.71417	0.978000	0.43139	0.983000	0.72400	5.557000	0.67313	2.687000	0.91594	0.655000	0.94253	GCG		0.433	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			
SLC12A4	6560	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67980916	67980916	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr16:67980916T>G	ENST00000316341.3	-	17	2305	c.2165A>C	c.(2164-2166)aAg>aCg	p.K722T	SLC12A4_ENST00000572037.1_Missense_Mutation_p.K674T|SLC12A4_ENST00000537830.2_Missense_Mutation_p.K716T|SLC12A4_ENST00000422611.2_Missense_Mutation_p.K724T|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000338335.3_Missense_Mutation_p.K722T|LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000576616.1_Missense_Mutation_p.K722T|SLC12A4_ENST00000541864.2_Missense_Mutation_p.K691T	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	722					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.K722T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGTCAGGCCCTTGCCAGCCTT	0.632																																																	1	Substitution - Missense(1)	kidney(1)											40.0	39.0	39.0					16																	67980916		2198	4300	6498	SO:0001583	missense	6560				CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2165A>C	16.37:g.67980916T>G	ENSP00000318557:p.Lys722Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	T	33	5.215446	0.95104	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5;-3.5	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.97704	0.9247	M	0.89715	3.055	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.994;0.992;0.999;0.994;0.994;0.991	D	0.98463	1.0597	10	0.66056	D	0.02	.	16.0796	0.80995	0.0:0.0:0.0:1.0	.	724;722;691;716;722;722	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	T	724;691;716;722;722	ENSP00000395983:K724T;ENSP00000438334:K691T;ENSP00000445962:K716T;ENSP00000343374:K722T;ENSP00000318557:K722T	ENSP00000318557:K722T	K	-	2	0	SLC12A4	66538417	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.206000	0.71126	0.533000	0.62120	AAG		0.632	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4		NM_005072	
SLC25A3	5250	hgsc.bcm.edu;ucsc.edu	37	12	98995243	98995244	+	Frame_Shift_Ins	INS	-	-	C	rs369550906		TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr12:98995243_98995244insC	ENST00000228318.3	+	8	1146_1147	c.1026_1027insC	c.(1027-1029)cctfs	p.P343fs	SLC25A3_ENST00000401722.3_Frame_Shift_Ins_p.P342fs|SNORA53_ENST00000391141.1_RNA|SLC25A3_ENST00000188376.5_Frame_Shift_Ins_p.P342fs|SLC25A3_ENST00000549338.1_Frame_Shift_Ins_p.P342fs|SLC25A3_ENST00000551917.1_Frame_Shift_Ins_p.P343fs|SLC25A3_ENST00000548847.1_Frame_Shift_Ins_p.P305fs|SLC25A3_ENST00000552981.1_Frame_Shift_Ins_p.P342fs	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	343					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		ACTTCAGACTTCCTCGCCCTCC	0.475																																																	0																																										SO:0001589	frameshift_variant	5250				CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"""Solute carriers"""	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.1028dupC	12.37:g.98995245_98995245dupC	ENSP00000228318:p.Pro343fs	Somatic		WXS	Illumina HiSeq	Phase_I	B3KS34|Q7Z7N7|Q96A03	Frame_Shift_Ins	INS	ENST00000228318.3	37	CCDS9066.1																																																																																				0.475	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407989.1		NM_005888	
SLC27A6	28965	broad.mit.edu;hgsc.bcm.edu	37	5	128302249	128302249	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr5:128302249G>T	ENST00000262462.4	+	1	1429	c.419G>T	c.(418-420)cGc>cTc	p.R140L	SLC27A6_ENST00000395266.1_Missense_Mutation_p.R140L|SLC27A6_ENST00000506176.1_Missense_Mutation_p.R140L			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	140					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.R140L(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		ACCAACATTCGCTCCAACTCC	0.597																																																	1	Substitution - Missense(1)	kidney(1)											63.0	44.0	51.0					5																	128302249		2203	4300	6503	SO:0001583	missense	28965			AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.419G>T	5.37:g.128302249G>T	ENSP00000262462:p.Arg140Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587273	0.46110	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.50813	0.73;0.73;0.73	4.18	2.38	0.29361	AMP-dependent synthetase/ligase (1);	0.207319	0.47455	D	0.000230	T	0.66257	0.2771	M	0.92219	3.285	0.30861	N	0.733568	P	0.42010	0.768	P	0.52217	0.693	T	0.71344	-0.4621	10	0.87932	D	0	-3.9701	9.5221	0.39143	0.0764:0.0:0.7811:0.1425	.	140	Q9Y2P4	S27A6_HUMAN	L	140	ENSP00000262462:R140L;ENSP00000378684:R140L;ENSP00000421024:R140L	ENSP00000262462:R140L	R	+	2	0	SLC27A6	128330148	0.771000	0.28555	0.006000	0.13384	0.290000	0.27261	1.636000	0.37144	0.704000	0.31869	0.561000	0.74099	CGC		0.597	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1		NM_014031	
SLC7A11	23657	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	139100476	139100476	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr4:139100476G>T	ENST00000280612.5	-	11	1618	c.1339C>A	c.(1339-1341)Cca>Aca	p.P447T	SLC7A11-AS1_ENST00000510767.1_RNA	NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	447					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)	p.P447T(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	GTACTAAATGGGTCCGAATAG	0.443																																																	1	Substitution - Missense(1)	kidney(1)											97.0	91.0	93.0					4																	139100476		2203	4300	6503	SO:0001583	missense	23657			AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"""Solute carriers"""	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.1339C>A	4.37:g.139100476G>T	ENSP00000280612:p.Pro447Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A8K2U4	Missense_Mutation	SNP	ENST00000280612.5	37	CCDS3742.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073274	0.36566	.	.	ENSG00000151012	ENST00000280612	D	0.89343	-2.5	5.27	5.27	0.74061	.	0.050519	0.85682	D	0.000000	D	0.93986	0.8074	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.93055	0.6469	10	0.37606	T	0.19	.	18.8964	0.92424	0.0:0.0:1.0:0.0	.	447	Q9UPY5	XCT_HUMAN	T	447	ENSP00000280612:P447T	ENSP00000280612:P447T	P	-	1	0	SLC7A11	139319926	1.000000	0.71417	0.874000	0.34290	0.243000	0.25628	9.456000	0.97628	2.443000	0.82685	0.655000	0.94253	CCA		0.443	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257251.2			
SLC7A8	23428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	23608686	23608686	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr14:23608686A>G	ENST00000316902.7	-	6	1584	c.859T>C	c.(859-861)Tat>Cat	p.Y287H	SLC7A8_ENST00000529705.2_Missense_Mutation_p.Y182H|SLC7A8_ENST00000422941.2_Missense_Mutation_p.Y63H|SLC7A8_ENST00000453702.1_Missense_Mutation_p.Y84H|SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000469263.1_Intron	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	287					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)	p.Y287H(1)		autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GCAGTGACATAAGCGACATTG	0.527																																																	1	Substitution - Missense(1)	kidney(1)											147.0	128.0	135.0					14																	23608686		2203	4300	6503	SO:0001583	missense	23428			Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"""Solute carriers"""	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.859T>C	14.37:g.23608686A>G	ENSP00000320378:p.Tyr287His	Somatic		WXS	Illumina HiSeq	Phase_I	B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	ENST00000316902.7	37	CCDS9590.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.768690	0.90020	.	.	ENSG00000092068	ENST00000316902;ENST00000334354;ENST00000453702;ENST00000529705;ENST00000422941;ENST00000206514	D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67	5.06	5.06	0.68205	Amino acid permease domain (1);	0.126095	0.56097	D	0.000029	D	0.97005	0.9022	H	0.97635	4.045	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98276	1.0506	10	0.87932	D	0	.	14.5021	0.67729	1.0:0.0:0.0:0.0	.	182;63;287	B4DKT4;B4DTV6;Q9UHI5	.;.;LAT2_HUMAN	H	287;84;84;182;63;84	ENSP00000320378:Y287H;ENSP00000391577:Y84H;ENSP00000434345:Y182H;ENSP00000416398:Y63H	ENSP00000206514:Y84H	Y	-	1	0	SLC7A8	22678526	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.505000	0.90515	2.207000	0.71202	0.533000	0.62120	TAT		0.527	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3			
SPAM1	6677	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	123594289	123594289	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr7:123594289C>T	ENST00000439500.1	+	4	1278	c.665C>T	c.(664-666)cCg>cTg	p.P222L	SPAM1_ENST00000340011.5_Missense_Mutation_p.P222L|SPAM1_ENST00000223028.7_Missense_Mutation_p.P222L|SPAM1_ENST00000460182.1_Missense_Mutation_p.P222L|SPAM1_ENST00000402183.2_Missense_Mutation_p.P222L	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	222					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)	p.P222L(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TATCTTTTTCCGGATTGTTAC	0.363																																																	2	Substitution - Missense(2)	kidney(2)											81.0	86.0	84.0					7																	123594289		2203	4300	6503	SO:0001583	missense	6677			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.665C>T	7.37:g.123594289C>T	ENSP00000402123:p.Pro222Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	C	35	5.424301	0.96111	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	6.17	6.17	0.99709	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.87273	0.6136	H	0.96889	3.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90270	0.4307	9	.	.	.	-52.5414	19.8676	0.96824	0.0:1.0:0.0:0.0	.	222;222	Q8TC30;P38567	.;HYALP_HUMAN	L	222	ENSP00000386028:P222L;ENSP00000417934:P222L;ENSP00000345849:P222L;ENSP00000402123:P222L;ENSP00000223028:P222L	.	P	+	2	0	SPAM1	123381525	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CCG		0.363	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			
TCHH	7062	broad.mit.edu	37	1	152084627	152084627	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr1:152084627C>G	ENST00000368804.1	-	2	1065	c.1066G>C	c.(1066-1068)Gag>Cag	p.E356Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	356	5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.E356Q(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ctctcctcctcctgctcgcgc	0.716																																																	1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1066G>C	1.37:g.152084627C>G	ENSP00000357794:p.Glu356Gln	Somatic		WXS	Illumina GAIIx	Phase_I	Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	N	7.510	0.654399	0.14580	.	.	ENSG00000159450	ENST00000368804	T	0.05319	3.46	3.05	-0.676	0.11361	.	.	.	.	.	T	0.00845	0.0028	N	0.08118	0	0.09310	N	1	B	0.17852	0.024	B	0.06405	0.002	T	0.47509	-0.9112	9	0.21540	T	0.41	.	6.5749	0.22560	0.0:0.3165:0.5607:0.1228	.	356	Q07283	TRHY_HUMAN	Q	356	ENSP00000357794:E356Q	ENSP00000357794:E356Q	E	-	1	0	TCHH	150351251	0.000000	0.05858	0.021000	0.16686	0.029000	0.11900	-0.248000	0.08854	0.122000	0.18314	0.441000	0.28932	GAG		0.716	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2		NM_007113	
TM6SF1	53346	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	83805262	83805262	+	Silent	SNP	T	T	A			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr15:83805262T>A	ENST00000322019.9	+	10	1225	c.951T>A	c.(949-951)ctT>ctA	p.L317L	TM6SF1_ENST00000565774.1_Silent_p.L286L|TM6SF1_ENST00000379386.4_Silent_p.L320L|TM6SF1_ENST00000379390.6_3'UTR			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	317						integral component of membrane (GO:0016021)		p.L317L(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						GTGCATCTCTTCATGCTAGAA	0.378																																																	1	Substitution - coding silent(1)	kidney(1)											87.0	84.0	85.0					15																	83805262		2203	4300	6503	SO:0001819	synonymous_variant	53346			AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.951T>A	15.37:g.83805262T>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K7T5|H3BU56|Q4U0U5	Silent	SNP	ENST00000322019.9	37	CCDS10323.1																																																																																				0.378	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000304009.1		NM_023003	
TOB1	10140	hgsc.bcm.edu;ucsc.edu	37	17	48940796	48940797	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	TA	TA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr17:48940796_48940797delTA	ENST00000268957.3	-	3	1010_1011	c.582_583delTA	c.(580-585)aatagtfs	p.NS194fs	TOB1_ENST00000499247.2_Frame_Shift_Del_p.NS194fs|TOB1_ENST00000509385.1_5'UTR	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	194					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CTACGGCCACTATTCTTCATTT	0.5											OREG0024576	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(144;643 1919 24513 29423 40686)												0																																										SO:0001589	frameshift_variant	10140			D38305	CCDS11576.1	17q21.33	2012-08-14			ENSG00000141232	ENSG00000141232			11979	protein-coding gene	gene with protein product		605523		TROB1		8632892, 17785442	Standard	NM_005749		Approved	TOB, TROB	uc002isw.3	P50616	OTTHUMG00000162277	ENST00000268957.3:c.582_583delTA	17.37:g.48940796_48940797delTA	ENSP00000268957:p.Asn194fs	Somatic	958	WXS	Illumina HiSeq	Phase_I	B2R9T0|D3DTY3|Q4KMQ0	Frame_Shift_Del	DEL	ENST00000268957.3	37	CCDS11576.1																																																																																				0.500	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000368364.1			
TRIM25	7706	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	54985850	54985850	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr17:54985850T>G	ENST00000316881.4	-	2	721	c.672A>C	c.(670-672)agA>agC	p.R224S	TRIM25_ENST00000537230.1_Missense_Mutation_p.R224S	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	224	Interaction with influenza A virus NS1.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R224S(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					GCTGCCTGTTTCTCACATCAT	0.592																																																	1	Substitution - Missense(1)	kidney(1)											138.0	101.0	113.0					17																	54985850		2203	4300	6503	SO:0001583	missense	7706			D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12932	protein-coding gene	gene with protein product		600453	"""zinc finger protein 147 (estrogen-responsive finger protein)"", ""tripartite motif-containing 25"""	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.672A>C	17.37:g.54985850T>G	ENSP00000323889:p.Arg224Ser	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000316881.4	37	CCDS11591.1	.	.	.	.	.	.	.	.	.	.	T	8.198	0.797505	0.16327	.	.	ENSG00000121060	ENST00000316881;ENST00000537230	T;T	0.68331	-0.32;-0.32	4.38	0.922	0.19408	.	0.457377	0.20425	N	0.092587	T	0.60117	0.2244	M	0.73962	2.25	0.09310	N	1	B	0.24368	0.102	B	0.24006	0.05	T	0.51631	-0.8681	10	0.37606	T	0.19	.	6.0519	0.19790	0.0:0.0953:0.1639:0.7407	.	224	Q14258	TRI25_HUMAN	S	224	ENSP00000323889:R224S;ENSP00000445961:R224S	ENSP00000323889:R224S	R	-	3	2	TRIM25	52340849	0.493000	0.26035	0.064000	0.19789	0.100000	0.18952	0.624000	0.24462	0.105000	0.17753	-1.122000	0.02009	AGA		0.592	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1		NM_005082	
TRRAP	8295	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	98547298	98547298	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr7:98547298G>T	ENST00000359863.4	+	36	5157	c.4948G>T	c.(4948-4950)Gtg>Ttg	p.V1650L	TRRAP_ENST00000446306.3_Missense_Mutation_p.V1631L|TRRAP_ENST00000355540.3_Missense_Mutation_p.V1632L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1650					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.V1632L(1)|p.V1650L(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAGCATTATAGTGAAAAACGA	0.527																																																	2	Substitution - Missense(2)	kidney(2)											41.0	44.0	43.0					7																	98547298		2203	4300	6503	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.4948G>T	7.37:g.98547298G>T	ENSP00000352925:p.Val1650Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.48|16.48	3.136400|3.136400	0.56936|0.56936	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.64618|.	-0.11;-0.11|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.065125|.	0.64402|.	D|.	0.000011|.	T|.	0.58133|.	0.2101|.	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	B;B;B|.	0.28082|.	0.2;0.039;0.033|.	B;B;B|.	0.21360|.	0.034;0.012;0.015|.	T|.	0.50725|.	-0.8794|.	10|.	0.20519|.	T|.	0.43|.	.|.	19.8413|19.8413	0.96690|0.96690	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1632;1371;1650|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	L|Y	1650;1632;1630|1371	ENSP00000352925:V1650L;ENSP00000347733:V1632L|.	ENSP00000347733:V1632L|.	V|X	+|+	1|3	0|2	TRRAP|TRRAP	98385234|98385234	1.000000|1.000000	0.71417|0.71417	0.481000|0.481000	0.27354|0.27354	0.830000|0.830000	0.47004|0.47004	9.807000|9.807000	0.99171|0.99171	2.779000|2.779000	0.95612|0.95612	0.655000|0.655000	0.94253|0.94253	GTG|TAG		0.527	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1		NM_003496	
VHL	7428	hgsc.bcm.edu;ucsc.edu	37	3	10188215	10188226	+	In_Frame_Del	DEL	AGAGATGCAGGG	AGAGATGCAGGG	-	rs5030832		TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	AGAGATGCAGGG	AGAGATGCAGGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr3:10188215_10188226delAGAGATGCAGGG	ENST00000256474.2	+	2	1198_1209	c.358_369delAGAGATGCAGGG	c.(358-369)agagatgcagggdel	p.RDAG120del	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	120	Involved in binding to CCT complex.				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.D121Y(6)|p.D121G(3)|p.T124fs*35(2)|p.D121fs*38(2)|p.D121E(2)|p.A122E(2)|p.T124_H125>H(1)|p.G123fs*8(1)|p.R120G(1)|p.?(1)|p.D121_A122del(1)|p.G123W(1)|p.R120S(1)|p.F119fs*11(1)|p.A122fs*7(1)|p.D121*(1)|p.R120fs*38(1)|p.R120fs*39(1)|p.R120*(1)|p.R120fs*34(1)|p.R120fs*10(1)|p.L118_G123>P(1)|p.D121D(1)|p.D121fs*11(1)|p.D121fs*10(1)|p.D121fs*35(1)|p.D121fs*12(1)|p.W117fs*1(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TTGGCTCTTCAGAGATGCAGGGACACACGATG	0.509		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	39	Substitution - Missense(16)|Deletion - Frameshift(14)|Insertion - Frameshift(2)|Substitution - Nonsense(2)|Complex - deletion inframe(2)|Deletion - In frame(1)|Unknown(1)|Substitution - coding silent(1)	kidney(36)|adrenal_gland(1)|lung(1)|pancreas(1)	GRCh37	CD003110|CD962176|CI951985|CM014753|CM056724|CM941374|CP025188	VHL	D|I|M|X	rs5030832																																			SO:0001651	inframe_deletion	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.358_369delAGAGATGCAGGG	3.37:g.10188215_10188226delAGAGATGCAGGG	ENSP00000256474:p.Arg120_Gly123del	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	In_Frame_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.509	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
WDR26	80232	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	224599175	224599175	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr1:224599175G>T	ENST00000414423.2	-	7	1305	c.1112C>A	c.(1111-1113)gCa>gAa	p.A371E	WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000295024.6_Missense_Mutation_p.A224E	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	371						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A371E(1)|p.A224E(1)		biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		TGATCCTGTTGCTAGTTTAGT	0.368																																																	2	Substitution - Missense(2)	kidney(2)											147.0	127.0	134.0					1																	224599175		2203	4300	6503	SO:0001583	missense	80232			AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.1112C>A	1.37:g.224599175G>T	ENSP00000408108:p.Ala371Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Missense_Mutation	SNP	ENST00000414423.2	37	CCDS31037.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.327773|5.327773	0.95733|0.95733	.|.	.|.	ENSG00000162923|ENSG00000162923	ENST00000414423;ENST00000295024|ENST00000480676	T;T|.	0.70399|.	-0.48;-0.48|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90762|0.90762	0.7100|0.7100	H|H	0.97962|0.97962	4.115|4.115	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.93819|0.93819	0.7117|0.7117	10|5	0.87932|.	D|.	0|.	.|.	19.5912|19.5912	0.95511|0.95511	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	355|.	Q9H7D7-2|.	.|.	E|R	371;224|4	ENSP00000408108:A371E;ENSP00000295024:A224E|.	ENSP00000295024:A224E|.	A|S	-|-	2|3	0|2	WDR26|WDR26	222665798|222665798	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.809000|9.809000	0.99208|0.99208	2.693000|2.693000	0.91896|0.91896	0.655000|0.655000	0.94253|0.94253	GCA|AGC		0.368	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2		NM_025160	
