#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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ADCK2	90956	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	140373652	140373652	+	Silent	SNP	G	G	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr7:140373652G>A	ENST00000072869.4	+	1	700	c.522G>A	c.(520-522)gtG>gtA	p.V174V	ADCK2_ENST00000476491.1_Silent_p.V174V	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	174						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.V174V(1)		cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					ATGTCCGAGTGACGCCCCACC	0.597																																																	1	Substitution - coding silent(1)	kidney(1)											45.0	50.0	49.0					7																	140373652		2203	4298	6501	SO:0001819	synonymous_variant	90956			AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.522G>A	7.37:g.140373652G>A			Q96CN6|Q9Y6T5	Silent	SNP	ENST00000072869.4	37	CCDS5861.1	.	.	.	.	.	.	.	.	.	.	G	2.990	-0.208459	0.06140	.	.	ENSG00000133597	ENST00000483369	.	.	.	4.63	3.68	0.42216	.	.	.	.	.	T	0.58090	0.2098	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55296	-0.8163	4	.	.	.	-11.7144	8.7687	0.34719	0.0835:0.1531:0.7633:0.0	.	.	.	.	N	12	.	.	D	+	1	0	ADCK2	140020121	0.656000	0.27385	0.223000	0.23860	0.109000	0.19521	0.883000	0.28200	2.136000	0.66102	0.561000	0.74099	GAC		0.597	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1		NM_052853	
ANKRD32	84250	hgsc.bcm.edu;ucsc.edu	37	5	94030788	94030789	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr5:94030788_94030789insA	ENST00000265140.5	+	21	3367_3368	c.2948_2949insA	c.(2947-2952)ttaactfs	p.T984fs	ANKRD32_ENST00000493934.1_Intron	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	984						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		TCCAAAGGGTTAACTCATCTAA	0.332																																																	0																																										SO:0001589	frameshift_variant	84250			AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.2950dupA	5.37:g.94030790_94030790dupA	ENSP00000265140:p.Thr984fs		B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Frame_Shift_Ins	INS	ENST00000265140.5	37	CCDS4071.2																																																																																				0.332	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1		NM_032290	
ANKRD52	283373	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56647514	56647514	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr12:56647514A>T	ENST00000267116.7	-	9	1098	c.977T>A	c.(976-978)aTc>aAc	p.I326N		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	326								p.I326N(1)		endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						ACCATTCTGGATGAGGATCTG	0.498																																																	1	Substitution - Missense(1)	kidney(1)											109.0	115.0	113.0					12																	56647514		1926	4132	6058	SO:0001583	missense	283373			AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.977T>A	12.37:g.56647514A>T	ENSP00000267116:p.Ile326Asn		A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.667820	0.88348	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.25414	1.8	4.62	4.62	0.57501	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.52041	0.1710	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.58819	-0.7569	10	0.87932	D	0	.	13.45	0.61165	1.0:0.0:0.0:0.0	.	326	Q8NB46	ANR52_HUMAN	N	326	ENSP00000267116:I326N	ENSP00000267116:I326N	I	-	2	0	ANKRD52	54933781	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.139000	0.94554	2.065000	0.61736	0.533000	0.62120	ATC		0.498	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1		NM_173595	
ANKRD7	56311	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	117864901	117864901	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr7:117864901G>A	ENST00000265224.4	+	1	172	c.17G>A	c.(16-18)aGc>aAc	p.S6N	ANKRD7_ENST00000417525.1_5'UTR|ANKRD7_ENST00000433239.1_5'Flank|ANKRD7_ENST00000477532.1_Intron|ANKRD7_ENST00000357099.4_Missense_Mutation_p.S6N	NM_019644.3	NP_062618.2	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	6					male gonad development (GO:0008584)	nucleus (GO:0005634)		p.S6N(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						AAGCTTTTCAGCTTCTGGAAG	0.532																																																	1	Substitution - Missense(1)	kidney(1)											69.0	72.0	71.0					7																	117864901		1899	4124	6023	SO:0001583	missense	56311			D78334	CCDS43638.1	7q31	2013-01-10			ENSG00000106013	ENSG00000106013		"""Ankyrin repeat domain containing"""	18588	protein-coding gene	gene with protein product	"""testis-specific ankyrin motif containing protein"""	610731				8812458	Standard	NM_019644		Approved	TSA806	uc003vji.3	Q92527	OTTHUMG00000156960	ENST00000265224.4:c.17G>A	7.37:g.117864901G>A	ENSP00000265224:p.Ser6Asn		B4DYF5|Q96QN1|Q9UDM3	Missense_Mutation	SNP	ENST00000265224.4	37	CCDS43638.1	.	.	.	.	.	.	.	.	.	.	G	6.578	0.474898	0.12521	.	.	ENSG00000106013	ENST00000357099;ENST00000265224;ENST00000486422	T;T;T	0.39406	1.08;1.2;1.98	3.64	-2.83	0.05769	.	.	.	.	.	T	0.18425	0.0442	N	0.16368	0.405	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.22347	-1.0219	9	0.16896	T	0.51	5.7488	1.8419	0.03151	0.2899:0.3144:0.2846:0.1111	.	6	Q92527	ANKR7_HUMAN	N	6	ENSP00000349612:S6N;ENSP00000265224:S6N;ENSP00000417353:S6N	ENSP00000265224:S6N	S	+	2	0	ANKRD7	117652137	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.100000	0.10990	-0.652000	0.05408	-0.284000	0.09977	AGC		0.532	ANKRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346826.1		NM_001077708	
AP3B2	8120	broad.mit.edu;hgsc.bcm.edu	37	15	83349316	83349316	+	Silent	SNP	C	C	T			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr15:83349316C>T	ENST00000261722.3	-	8	1170	c.963G>A	c.(961-963)gtG>gtA	p.V321V	AP3B2_ENST00000535348.1_Silent_p.V289V|AP3B2_ENST00000535359.1_Silent_p.V321V|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	321					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.V321V(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCACCGCCATCACCACCGCGG	0.706																																																	1	Substitution - coding silent(1)	kidney(1)											5.0	6.0	6.0					15																	83349316		1685	3747	5432	SO:0001819	synonymous_variant	8120			U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.963G>A	15.37:g.83349316C>T			A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Silent	SNP	ENST00000261722.3	37	CCDS45331.1																																																																																				0.706	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			
ATM	472	hgsc.bcm.edu;ucsc.edu	37	11	108127063	108127063	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr11:108127063delC	ENST00000452508.2	+	15	2435	c.2246delC	c.(2245-2247)gccfs	p.A749fs	ATM_ENST00000278616.4_Frame_Shift_Del_p.A749fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	749					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTCCAGAAAGCCAAGGTAGGA	0.348			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0													84.0	84.0	84.0					11																	108127063		2201	4298	6499	SO:0001589	frameshift_variant	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.2246delC	11.37:g.108127063delC	ENSP00000388058:p.Ala749fs		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Del	DEL	ENST00000452508.2	37	CCDS31669.1																																																																																				0.348	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1		NM_000051	
ATP11A	23250	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	113508719	113508719	+	Silent	SNP	G	G	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr13:113508719G>A	ENST00000487903.1	+	19	2206	c.2118G>A	c.(2116-2118)agG>agA	p.R706R	ATP11A_ENST00000283558.8_Silent_p.R706R|ATP11A_ENST00000375630.2_Silent_p.R706R|ATP11A_ENST00000375645.3_Silent_p.R706R			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	706					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R706R(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TCTTCCGCAGGAACACGCAGC	0.637																																																	2	Substitution - coding silent(2)	kidney(2)											64.0	59.0	60.0					13																	113508719		2203	4300	6503	SO:0001819	synonymous_variant	23250			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.2118G>A	13.37:g.113508719G>A			Q5VXT2	Silent	SNP	ENST00000487903.1	37	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443250	0.25987	.	.	ENSG00000068650	ENST00000418678	.	.	.	4.84	-4.48	0.03515	.	.	.	.	.	T	0.37156	0.0993	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34625	-0.9821	4	.	.	.	.	1.2293	0.01940	0.3367:0.1115:0.3298:0.2221	.	.	.	.	E	681	.	.	G	+	2	0	ATP11A	112556720	0.955000	0.32602	0.019000	0.16419	0.964000	0.63967	0.406000	0.21032	-1.025000	0.03334	0.561000	0.74099	GGA		0.637	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3		NM_015205	
BBS4	585	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	73029249	73029249	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr15:73029249T>G	ENST00000268057.4	+	15	1436	c.1395T>G	c.(1393-1395)aaT>aaG	p.N465K	BBS4_ENST00000542334.1_Missense_Mutation_p.N293K|BBS4_ENST00000539603.1_Missense_Mutation_p.N453K|BBS4_ENST00000395205.2_Missense_Mutation_p.N473K	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	465	Required for localization to centrosomes.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)	p.N465K(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						TGGGCTCTAATCAAGCTCTAG	0.527									Bardet-Biedl syndrome																																								1	Substitution - Missense(1)	kidney(1)											160.0	162.0	161.0					15																	73029249		2198	4297	6495	SO:0001583	missense	585	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"""Tetratricopeptide (TTC) repeat domain containing"""	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.1395T>G	15.37:g.73029249T>G	ENSP00000268057:p.Asn465Lys		B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP	ENST00000268057.4	37	CCDS10246.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.146592	0.57044	.	.	ENSG00000140463	ENST00000542334;ENST00000268057;ENST00000539603;ENST00000395205	D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11	5.86	-1.02	0.10135	.	0.142496	0.64402	D	0.000007	T	0.80597	0.4653	M	0.64997	1.995	0.36379	D	0.86177	B;P;B	0.35272	0.277;0.493;0.181	B;B;B	0.32289	0.143;0.143;0.068	T	0.73754	-0.3883	10	0.22109	T	0.4	-2.4887	10.2913	0.43596	0.0:0.5286:0.0:0.4714	.	453;473;465	F5H7I8;Q96RK4-2;Q96RK4	.;.;BBS4_HUMAN	K	293;465;453;473	ENSP00000445964:N293K;ENSP00000268057:N465K;ENSP00000442492:N453K;ENSP00000378631:N473K	ENSP00000268057:N465K	N	+	3	2	BBS4	70816302	0.996000	0.38824	0.733000	0.30861	0.995000	0.86356	0.447000	0.21710	-0.084000	0.12595	0.533000	0.62120	AAT		0.527	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2		NM_033028	
BTBD11	121551	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	107713793	107713793	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr12:107713793C>T	ENST00000280758.5	+	1	1604	c.1076C>T	c.(1075-1077)tCg>tTg	p.S359L	BTBD11_ENST00000490090.2_Missense_Mutation_p.S359L|BTBD11_ENST00000420571.2_Missense_Mutation_p.S359L	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	359						integral component of membrane (GO:0016021)		p.S359L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AACAACGACTCGGAGATCTGG	0.647																																																	1	Substitution - Missense(1)	kidney(1)											26.0	30.0	29.0					12																	107713793		1970	3928	5898	SO:0001583	missense	121551			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1076C>T	12.37:g.107713793C>T	ENSP00000280758:p.Ser359Leu		A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177862	0.57692	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000550706	T;T;T;T	0.52983	1.19;1.24;1.23;0.64	3.82	3.82	0.43975	Histone-fold (2);	0.565935	0.16091	N	0.230073	T	0.43322	0.1242	L	0.39898	1.24	0.80722	D	1	P;P;P	0.52170	0.876;0.804;0.951	B;B;B	0.42995	0.174;0.084;0.404	T	0.52997	-0.8500	10	0.72032	D	0.01	.	15.4996	0.75687	0.0:1.0:0.0:0.0	.	359;359;359	A6QL63-2;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	L	359;359;359;40	ENSP00000280758:S359L;ENSP00000413889:S359L;ENSP00000447319:S359L;ENSP00000447606:S40L	ENSP00000280758:S359L	S	+	2	0	BTBD11	106237923	0.962000	0.33011	0.941000	0.38009	0.993000	0.82548	6.966000	0.76073	1.943000	0.56356	0.561000	0.74099	TCG		0.647	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1		NM_152322	
AUNIP	79000	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	26162026	26162026	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr1:26162026C>T	ENST00000374298.3	-	3	586	c.532G>A	c.(532-534)Gac>Aac	p.D178N	AUNIP_ENST00000481602.1_Intron|AUNIP_ENST00000538789.1_Missense_Mutation_p.D178N	NM_024037.1	NP_076942.1	Q9H7T9	AUNIP_HUMAN	aurora kinase A and ninein interacting protein	178					spindle organization (GO:0007051)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)		p.D178N(1)									CTTTCCAAGTCCTCGGTGAAG	0.443																																																	1	Substitution - Missense(1)	kidney(1)											151.0	156.0	155.0					1																	26162026		2203	4300	6503	SO:0001583	missense	0				CCDS266.1, CCDS72731.1	1p36.11	2012-08-07	2012-08-07	2012-08-07	ENSG00000127423	ENSG00000127423			28363	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 135"""	C1orf135		20596670	Standard	NM_001287490		Approved	MGC2603, AIBp	uc001bkw.1	Q9H7T9	OTTHUMG00000007372	ENST00000374298.3:c.532G>A	1.37:g.26162026C>T	ENSP00000363416:p.Asp178Asn		C9EI59|Q53F70	Missense_Mutation	SNP	ENST00000374298.3	37	CCDS266.1	.	.	.	.	.	.	.	.	.	.	C	7.126	0.578980	0.13686	.	.	ENSG00000127423	ENST00000538789;ENST00000374298	T;T	0.48836	0.8;0.8	5.16	-1.92	0.07618	.	0.783640	0.11442	N	0.563652	T	0.18718	0.0449	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.27536	-1.0071	10	0.07482	T	0.82	-0.0018	4.4776	0.11752	0.1707:0.3028:0.0:0.5265	.	178	Q9H7T9	CA135_HUMAN	N	178	ENSP00000443647:D178N;ENSP00000363416:D178N	ENSP00000363416:D178N	D	-	1	0	C1orf135	26034613	0.000000	0.05858	0.004000	0.12327	0.825000	0.46686	-0.003000	0.12901	-0.191000	0.10448	0.460000	0.39030	GAC		0.443	AUNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019309.2		NM_024037	
CAT	847	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	34478280	34478280	+	Silent	SNP	T	T	C			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr11:34478280T>C	ENST00000241052.4	+	8	1061	c.972T>C	c.(970-972)aaT>aaC	p.N324N		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	324					aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.N324N(1)		breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	ATCCAGTTAATTACTTTGCTG	0.468																																																	1	Substitution - coding silent(1)	kidney(1)											130.0	117.0	121.0					11																	34478280		2202	4298	6500	SO:0001819	synonymous_variant	847			AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.972T>C	11.37:g.34478280T>C			A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Silent	SNP	ENST00000241052.4	37	CCDS7891.1																																																																																				0.468	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103197.2		NM_001752	
CEACAM5	1048	broad.mit.edu;hgsc.bcm.edu	37	19	42213711	42213711	+	Silent	SNP	C	C	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr19:42213711C>A	ENST00000221992.6	+	2	291	c.177C>A	c.(175-177)ccC>ccA	p.P59P	CEACAM7_ENST00000599715.1_5'Flank|CEA_ENST00000598976.1_Silent_p.P59P|CEACAM5_ENST00000398599.4_Silent_p.P59P|CEACAM5_ENST00000405816.1_Silent_p.P59P	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	59	Ig-like 1.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.P59P(1)		breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		ACAATCTGCCCCAGCATCTTT	0.507																																																	1	Substitution - coding silent(1)	kidney(1)											167.0	152.0	157.0					19																	42213711		2203	4300	6503	SO:0001819	synonymous_variant	1048			M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.177C>A	19.37:g.42213711C>A			H9KVA7	Silent	SNP	ENST00000221992.6	37	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	-	3.291	-0.144968	0.06627	.	.	ENSG00000105388	ENST00000398599	.	.	.	3.09	-6.19	0.02078	.	.	.	.	.	T	0.20129	0.0484	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27434	-1.0074	5	0.38643	T	0.18	.	1.1349	0.01753	0.4881:0.1401:0.1904:0.1813	.	.	.	.	T	56	.	ENSP00000381600:P56T	P	+	1	0	CEACAM5	46905551	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.212000	0.17497	-1.273000	0.02424	0.305000	0.20034	CCA		0.507	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2		NM_004363	
CSMD2	114784	broad.mit.edu;hgsc.bcm.edu	37	1	34180251	34180251	+	Silent	SNP	G	G	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr1:34180251G>A	ENST00000373381.4	-	21	3518	c.3342C>T	c.(3340-3342)acC>acT	p.T1114T		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1074	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T1074T(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGATGCGGGCGGTGCCCTCCA	0.627																																																	1	Substitution - coding silent(1)	kidney(1)											96.0	107.0	103.0					1																	34180251		2203	4300	6503	SO:0001819	synonymous_variant	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.3342C>T	1.37:g.34180251G>A			B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37																																																																																					0.627	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_052896	
CTR9	9646	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	10785039	10785039	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr11:10785039T>A	ENST00000361367.2	+	8	1337	c.911T>A	c.(910-912)aTg>aAg	p.M304K		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	304					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)		p.M304K(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTGGAAGCTATGCAAGCAGAG	0.358																																																	1	Substitution - Missense(1)	kidney(1)											110.0	104.0	106.0					11																	10785039		2201	4294	6495	SO:0001583	missense	9646			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.911T>A	11.37:g.10785039T>A	ENSP00000355013:p.Met304Lys		D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	T	18.83	3.707576	0.68615	.	.	ENSG00000198730	ENST00000361367;ENST00000524523	T	0.50001	0.76	5.95	5.95	0.96441	Tetratricopeptide repeat-containing (1);	0.072080	0.85682	D	0.000000	T	0.59224	0.2178	H	0.94345	3.525	0.80722	D	1	B	0.33022	0.394	B	0.33042	0.157	T	0.64837	-0.6313	10	0.09338	T	0.73	-22.4394	16.4116	0.83717	0.0:0.0:0.0:1.0	.	304	Q6PD62	CTR9_HUMAN	K	304;255	ENSP00000355013:M304K	ENSP00000355013:M304K	M	+	2	0	CTR9	10741615	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.587000	0.82613	2.276000	0.75962	0.528000	0.53228	ATG		0.358	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1		NM_014633	
DNMT1	1786	broad.mit.edu	37	19	10246885	10246885	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr19:10246885T>C	ENST00000340748.4	-	37	4755	c.4520A>G	c.(4519-4521)cAc>cGc	p.H1507R	DNMT1_ENST00000359526.4_Missense_Mutation_p.H1523R|DNMT1_ENST00000540357.1_Missense_Mutation_p.H1510R			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1507	Catalytic.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.H1507R(1)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CCAGTGGTTGTGCCGGTTCCC	0.642																																																	1	Substitution - Missense(1)	kidney(1)											48.0	44.0	45.0					19																	10246885		2203	4300	6503	SO:0001583	missense	1786			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.4520A>G	19.37:g.10246885T>C	ENSP00000345739:p.His1507Arg		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.204777	0.79127	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.40756	1.02;1.02;1.02	5.41	4.38	0.52667	.	0.049360	0.85682	D	0.000000	T	0.61324	0.2338	M	0.70275	2.135	0.58432	D	0.999998	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.99;1.0;1.0	T	0.63171	-0.6697	10	0.87932	D	0	-44.3251	10.7364	0.46128	0.143:0.0:0.0:0.857	.	1510;1523;1507	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	R	1523;1510;1507;1375	ENSP00000352516:H1523R;ENSP00000440457:H1510R;ENSP00000345739:H1507R	ENSP00000345739:H1507R	H	-	2	0	DNMT1	10107885	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.587000	0.82613	0.862000	0.35528	0.454000	0.30748	CAC		0.642	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1		NM_001379	
DTX1	1840	broad.mit.edu	37	12	113515329	113515329	+	Silent	SNP	C	C	A	rs201802722		TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr12:113515329C>A	ENST00000257600.3	+	2	863	c.360C>A	c.(358-360)gcC>gcA	p.A120A		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	120	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A120A(3)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CATGGACGGCCTACGATATGG	0.627																																																	3	Substitution - coding silent(3)	large_intestine(1)|kidney(1)|endometrium(1)											97.0	77.0	84.0					12																	113515329		2203	4300	6503	SO:0001819	synonymous_variant	1840			AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.360C>A	12.37:g.113515329C>A			O60630|Q9BS04	Silent	SNP	ENST00000257600.3	37	CCDS9164.1																																																																																				0.627	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			
EMR4P	326342	broad.mit.edu;hgsc.bcm.edu	37	19	6990855	6990855	+	RNA	SNP	A	A	C			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr19:6990855A>C	ENST00000600751.1	-	0	2					NR_024075.1		Q86SQ3	EMR4_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 4 pseudogene						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)										GGACGTGGTCAGAATGCCTGG	0.512																																																	0													58.0	60.0	59.0					19																	6990855		1889	4104	5993			326342			AY181245		19p13.2	2014-08-08	2008-06-06	2008-06-06	ENSG00000268758	ENSG00000268758		"""-"", ""GPCR / Class B : Orphans"""	19240	pseudogene	pseudogene		612305	"""G protein-coupled receptor 127"", ""egf-like module containing, mucin-like, hormone receptor-like 4"""	GPR127, EMR4		12565841	Standard	NR_024075		Approved	PGR16	uc010xjk.2	Q86SQ3	OTTHUMG00000177251		19.37:g.6990855A>C			Q86SP1	RNA	SNP	ENST00000600751.1	37																																																																																					0.512	EMR4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000436007.1		NR_024075	
FAM169A	26049	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	74097435	74097436	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr5:74097435_74097436GC>AT	ENST00000389156.4	-	9	1021_1022	c.931_932GC>AT	c.(931-933)GCc>ATc	p.A311I	FAM169A_ENST00000380515.3_3'UTR|FAM169A_ENST00000510496.1_Missense_Mutation_p.A251I	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	311						membrane (GO:0016020)|nucleus (GO:0005634)		p.A311I(1)|p.A311V(1)|p.A311T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						GCTTGCAAAGGCATCTTTTAGA	0.347																																																	3	Substitution - Missense(3)	kidney(3)																																								SO:0001583	missense	26049				CCDS43330.1	5q13.3	2008-08-08			ENSG00000198780	ENSG00000198780			29138	protein-coding gene	gene with protein product		615769				10048485	Standard	NM_015566		Approved	KIAA0888	uc003kdm.4	Q9Y6X4	OTTHUMG00000162930	ENST00000389156.4:c.931_932delinsAT	5.37:g.74097435_74097436delinsAT	ENSP00000373808:p.Ala311Ile		A8K1T9|Q6MZT0|Q9H989	Missense_Mutation	SNP	ENST00000389156.4	37	CCDS43330.1																																																																																				0.347	FAM169A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371092.2			
GGT7	2686	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	33447323	33447323	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr20:33447323C>T	ENST00000336431.5	-	7	981	c.937G>A	c.(937-939)Gtg>Atg	p.V313M		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	313					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.V313M(1)		NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						ACATCCAGCACCTCAGCCAGG	0.657																																																	1	Substitution - Missense(1)	kidney(1)											35.0	30.0	31.0					20																	33447323		2203	4299	6502	SO:0001583	missense	2686			AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.937G>A	20.37:g.33447323C>T	ENSP00000338964:p.Val313Met		Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	ENST00000336431.5	37	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530895	0.64972	.	.	ENSG00000131067	ENST00000336431	T	0.07021	3.23	5.84	3.9	0.45041	.	0.262583	0.38605	N	0.001625	T	0.14614	0.0353	M	0.70595	2.14	0.22280	N	0.999231	P;P	0.38335	0.627;0.627	B;B	0.44085	0.44;0.44	T	0.05903	-1.0857	10	0.66056	D	0.02	-6.5593	9.0274	0.36239	0.0:0.6041:0.3184:0.0775	.	313;313	A4FU32;Q9UJ14	.;GGT7_HUMAN	M	313	ENSP00000338964:V313M	ENSP00000338964:V313M	V	-	1	0	GGT7	32910984	0.974000	0.33945	0.697000	0.30258	0.982000	0.71751	2.222000	0.42926	1.464000	0.47987	0.561000	0.74099	GTG		0.657	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2		NM_178026	
GOLGA2	2801	hgsc.bcm.edu;ucsc.edu	37	9	131019384	131019384	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr9:131019384delC	ENST00000421699.2	-	26	2983	c.2971delG	c.(2971-2973)gctfs	p.A991fs	GOLGA2_ENST00000609374.1_Frame_Shift_Del_p.A979fs|AL590708.1_ENST00000408370.1_RNA	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	991					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TTCTCGTCAGCCCGGTAAAAA	0.562																																																	0													97.0	108.0	104.0					9																	131019384		2203	4300	6503	SO:0001589	frameshift_variant	2801			L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2971delG	9.37:g.131019384delC	ENSP00000416097:p.Ala991fs		Q6GRM9|Q9BRB0|Q9NYF9	Frame_Shift_Del	DEL	ENST00000421699.2	37	CCDS6896.2																																																																																				0.562	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2		NM_004486	
GOLGA3	2802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	133351815	133351815	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr12:133351815T>A	ENST00000450791.2	-	21	4238	c.4055A>T	c.(4054-4056)aAa>aTa	p.K1352I	GOLGA3_ENST00000456883.2_Missense_Mutation_p.K1352I|GOLGA3_ENST00000204726.3_Missense_Mutation_p.K1352I			Q08378	GOGA3_HUMAN	golgin A3	1352	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.K1352I(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTCCGACACTTTTGCCTGGAG	0.532																																																	1	Substitution - Missense(1)	kidney(1)											97.0	83.0	88.0					12																	133351815		2203	4300	6503	SO:0001583	missense	2802			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.4055A>T	12.37:g.133351815T>A	ENSP00000410378:p.Lys1352Ile		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.009117	0.75046	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	T;T;T	0.79554	-1.28;-1.28;1.25	6.07	4.91	0.64330	.	0.040600	0.85682	D	0.000000	D	0.87613	0.6221	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.991;0.999	D	0.87946	0.2720	10	0.87932	D	0	.	11.4927	0.50389	0.0:0.0724:0.0:0.9276	.	1352;1352	Q08378-2;Q08378	.;GOGA3_HUMAN	I	1352	ENSP00000204726:K1352I;ENSP00000410378:K1352I;ENSP00000409303:K1352I	ENSP00000204726:K1352I	K	-	2	0	GOLGA3	131861888	1.000000	0.71417	0.988000	0.46212	0.317000	0.28152	5.937000	0.70162	1.093000	0.41377	0.533000	0.62120	AAA		0.532	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2		NM_005895	
GPR4	2828	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	46094945	46094945	+	Silent	SNP	G	G	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr19:46094945G>A	ENST00000323040.4	-	2	1124	c.180C>T	c.(178-180)agC>agT	p.S60S	GPR4_ENST00000591614.1_5'Flank|OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	60					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S60S(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GGTCGGCGATGCTGAGGTTCA	0.642																																					Esophageal Squamous(117;181 1612 1673 14956 42937)												1	Substitution - coding silent(1)	kidney(1)											109.0	89.0	96.0					19																	46094945		2203	4300	6503	SO:0001819	synonymous_variant	2828			BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"""GPCR / Class A : Orphans"""	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.180C>T	19.37:g.46094945G>A			A8K3T3|B0M0K1|Q6NWM4	Silent	SNP	ENST00000323040.4	37	CCDS12669.1																																																																																				0.642	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1		NM_005282	
HERC3	8916	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	89577067	89577067	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr4:89577067A>G	ENST00000402738.1	+	9	1189	c.950A>G	c.(949-951)tAt>tGt	p.Y317C	HERC3_ENST00000543130.1_5'Flank|HERC3_ENST00000407637.1_Missense_Mutation_p.Y317C|HERC3_ENST00000264345.3_Missense_Mutation_p.Y317C	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	317					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.Y317C(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GGACTCATCTATGCATTTGGT	0.448																																																	1	Substitution - Missense(1)	kidney(1)											226.0	205.0	212.0					4																	89577067		2203	4300	6503	SO:0001583	missense	8916			D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.950A>G	4.37:g.89577067A>G	ENSP00000385684:p.Tyr317Cys		A8K1S5|Q8IXX3	Missense_Mutation	SNP	ENST00000402738.1	37	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.301464	0.81136	.	.	ENSG00000138641	ENST00000402738;ENST00000407637;ENST00000264345	D;D;D	0.91180	-2.8;-2.8;-2.8	4.9	4.9	0.64082	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.96109	0.8732	M	0.91459	3.21	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.91635	0.943;0.999	D	0.97031	0.9750	10	0.87932	D	0	.	14.7158	0.69269	1.0:0.0:0.0:0.0	.	317;317	Q15034;Q8IXX3	HERC3_HUMAN;.	C	317	ENSP00000385684:Y317C;ENSP00000384005:Y317C;ENSP00000264345:Y317C	ENSP00000264345:Y317C	Y	+	2	0	HERC3	89796090	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.963000	0.93385	2.061000	0.61500	0.533000	0.62120	TAT		0.448	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2		NM_014606	
IL27RA	9466	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	14157046	14157046	+	Silent	SNP	C	C	G			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr19:14157046C>G	ENST00000263379.2	+	7	974	c.849C>G	c.(847-849)acC>acG	p.T283T		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	283					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)	p.T283T(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						AAGGAATTACCTGCTGCTGCT	0.582																																					Colon(164;1849 1896 4443 37792 47834)												1	Substitution - coding silent(1)	kidney(1)											160.0	162.0	161.0					19																	14157046		2203	4300	6503	SO:0001819	synonymous_variant	9466			AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.849C>G	19.37:g.14157046C>G			A0N0L1|O60624	Silent	SNP	ENST00000263379.2	37	CCDS12303.1																																																																																				0.582	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1		NM_004843	
IQGAP1	8826	hgsc.bcm.edu;ucsc.edu	37	15	91035819	91035819	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr15:91035819delG	ENST00000268182.5	+	35	4628	c.4504delG	c.(4504-4506)gaafs	p.E1502fs	IQGAP1_ENST00000560738.1_Frame_Shift_Del_p.E930fs	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1502	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GAGAAAGGCCGAACTAGTGAA	0.403																																																	0													98.0	92.0	94.0					15																	91035819		2198	4298	6496	SO:0001589	frameshift_variant	8826			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.4504delG	15.37:g.91035819delG	ENSP00000268182:p.Glu1502fs		A7MBM3	Frame_Shift_Del	DEL	ENST00000268182.5	37	CCDS10362.1																																																																																				0.403	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1		NM_003870	
AJUBA	84962	hgsc.bcm.edu;ucsc.edu	37	14	23444255	23444260	+	In_Frame_Del	DEL	TTGCAA	TTGCAA	-	rs200247985		TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	TTGCAA	TTGCAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr14:23444255_23444260delTTGCAA	ENST00000262713.2	-	5	1668_1673	c.1293_1298delTTGCAA	c.(1291-1299)gtttgcaac>gtc	p.CN432del	AJUBA_ENST00000361265.4_In_Frame_Del_p.CN432del|AJUBA_ENST00000397388.3_In_Frame_Del_p.CN15del|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	432	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										CAGGCACTTGTTGCAAACAATGCATC	0.524																																																	0																																										SO:0001651	inframe_deletion	0			AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1293_1298delTTGCAA	14.37:g.23444255_23444260delTTGCAA	ENSP00000262713:p.Cys432_Asn433del		A8MX18|D3DS37	In_Frame_Del	DEL	ENST00000262713.2	37	CCDS9581.1																																																																																				0.524	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			
KIAA1683	80726	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	18377009	18377009	+	Silent	SNP	C	C	T			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr19:18377009C>T	ENST00000600328.3	-	3	1534	c.1341G>A	c.(1339-1341)ggG>ggA	p.G447G	KIAA1683_ENST00000392413.4_Silent_p.G447G|KIAA1683_ENST00000600359.3_Silent_p.G401G			Q9H0B3	K1683_HUMAN	KIAA1683	447						mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.G447G(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CCATCGCAGGCCCCGGGCATA	0.587																																																	2	Substitution - coding silent(2)	kidney(2)											64.0	67.0	66.0					19																	18377009		2203	4300	6503	SO:0001819	synonymous_variant	80726			AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.1341G>A	19.37:g.18377009C>T			B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	ENST00000600328.3	37	CCDS32958.1																																																																																				0.587	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			
KRTAP4-11	653240	broad.mit.edu	37	17	39274150	39274150	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr17:39274150T>A	ENST00000391413.2	-	1	456	c.418A>T	c.(418-420)Agc>Tgc	p.S140C		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	140	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.S140C(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ctggagatgctgcagctgggg	0.672																																																	2	Substitution - Missense(2)	prostate(1)|kidney(1)											8.0	13.0	12.0					17																	39274150		686	1587	2273	SO:0001583	missense	653240			AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.418A>T	17.37:g.39274150T>A	ENSP00000375232:p.Ser140Cys		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	6.114	0.389323	0.11581	.	.	ENSG00000212721	ENST00000391413	T	0.00832	5.64	3.95	-4.72	0.03269	.	.	.	.	.	T	0.00178	0.0005	N	0.00010	-3.035	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48139	-0.9061	9	0.02654	T	1	.	4.7994	0.13289	0.3484:0.2238:0.0:0.4278	.	140	Q9BYQ6	KR411_HUMAN	C	140	ENSP00000375232:S140C	ENSP00000375232:S140C	S	-	1	0	KRTAP4-11	36527676	0.000000	0.05858	0.000000	0.03702	0.829000	0.46940	0.038000	0.13862	-0.681000	0.05204	-0.924000	0.02725	AGC		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			
KRTAP5-1	387264	hgsc.bcm.edu	37	11	1606121	1606150	+	In_Frame_Del	DEL	CCACAGCCACCCTTGGATCCCCCACAAGAG	CCACAGCCACCCTTGGATCCCCCACAAGAG	-	rs138363822|rs199501537|rs80025267|rs76191756	byFrequency	TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	CCACAGCCACCCTTGGATCCCCCACAAGAG	CCACAGCCACCCTTGGATCCCCCACAAGAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr11:1606121_1606150delCCACAGCCACCCTTGGATCCCCCACAAGAG	ENST00000382171.2	-	1	363_392	c.330_359delCTCTTGTGGGGGATCCAAGGGTGGCTGTGG	c.(328-360)ggctcttgtgggggatccaagggtggctgtggt>ggt	p.110_120GSCGGSKGGCG>G	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	110	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACAGCCGGAACCACAGCCACCCTTGGATCCCCCACAAGAGCCACAGCCCC	0.661																																																	0										2171,2035		609,953,541						-5.2	0.0			71	4129,4059		1127,1875,1092	no	coding	KRTAP5-1	NM_001005922.1		1736,2828,1633	A1A1,A1R,RR		49.5725,48.3833,49.169				6300,6094				SO:0001651	inframe_deletion	387264			AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.330_359delCTCTTGTGGGGGATCCAAGGGTGGCTGTGG	11.37:g.1606121_1606150delCCACAGCCACCCTTGGATCCCCCACAAGAG	ENSP00000371606:p.Gly110_Cys119del			In_Frame_Del	DEL	ENST00000382171.2	37	CCDS31330.1																																																																																				0.661	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1		NM_001005922	
Unknown	0	broad.mit.edu	37	13	19415644	19415644	+	IGR	SNP	C	C	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr13:19415644C>A								LINC00418 (121775 upstream) : RP11-38M15.11 (18322 downstream)																							aaaaaaaaaacccaaacaaaa	0.413																																																	0																																										SO:0001628	intergenic_variant	0																															13.37:g.19415644C>A				RNA	SNP		37																																																																																				0	0.413									
H3F3AP5	347376	broad.mit.edu	37	X	50648823	50648823	+	IGR	SNP	G	G	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chrX:50648823G>A								SHROOM4 (91521 upstream) : BMP15 (4960 downstream)														p.R257H(1)									CAGCTAGCACGCCACATACGT	0.408													g|||	1	0.000264901	0.0	0.0014	3775	,	,		13001	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)																																								SO:0001628	intergenic_variant	0																															X.37:g.50648823G>A				Missense_Mutation	SNP		37																																																																																				0	0.408									
LRRIQ3	127255	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	74507410	74507410	+	Missense_Mutation	SNP	C	C	T	rs199619382		TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr1:74507410C>T	ENST00000395089.1	-	6	1204	c.1205G>A	c.(1204-1206)cGg>cAg	p.R402Q	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.R402Q			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	402								p.R402Q(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTCATACTCCGCTCCAATCG	0.353																																																	2	Substitution - Missense(2)	kidney(1)|endometrium(1)						C	GLN/ARG	0,3676		0,0,1838	110.0	100.0	103.0		1205	-9.2	0.0	1		103	1,8175		0,1,4087	yes	missense	LRRIQ3	NM_001105659.1	43	0,1,5925	TT,TC,CC		0.0122,0.0,0.0084	possibly-damaging	402/625	74507410	1,11851	1838	4088	5926	SO:0001583	missense	127255			BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1205G>A	1.37:g.74507410C>T	ENSP00000378524:p.Arg402Gln		A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.458187	0.43634	0.0	1.22E-4	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.11604	2.76;2.76	5.77	-9.19	0.00685	.	1.286310	0.05602	N	0.576532	T	0.01387	0.0045	N	0.19112	0.55	0.09310	N	1	B	0.17852	0.024	B	0.09377	0.004	T	0.40156	-0.9578	10	0.48119	T	0.1	.	3.6791	0.08304	0.1039:0.1638:0.1788:0.5535	.	402	A6PVS8	LRIQ3_HUMAN	Q	402	ENSP00000378524:R402Q;ENSP00000346414:R402Q	ENSP00000346414:R402Q	R	-	2	0	LRRIQ3	74279998	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.826000	0.04429	-2.170000	0.00776	-0.237000	0.12165	CGG		0.353	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1		NM_145258	
MED16	10025	broad.mit.edu;hgsc.bcm.edu	37	19	884992	884992	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr19:884992G>A	ENST00000589119.1	-	5	895	c.896C>T	c.(895-897)tCc>tTc	p.S299F	MED16_ENST00000606828.1_Intron|MED16_ENST00000269814.4_Missense_Mutation_p.S299F|MED16_ENST00000325464.1_Missense_Mutation_p.S299F|MED16_ENST00000312090.6_Missense_Mutation_p.S299F|MED16_ENST00000395808.3_Missense_Mutation_p.S299F			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	299					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.S299F(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCTGGCTGGACGCGCACAA	0.677																																																	1	Substitution - Missense(1)	kidney(1)											36.0	25.0	29.0					19																	884992		2199	4298	6497	SO:0001583	missense	10025			AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.896C>T	19.37:g.884992G>A	ENSP00000464810:p.Ser299Phe		Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	37	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258318	0.80246	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000537596;ENST00000424039	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	4.8	4.8	0.61643	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.65913	0.2737	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D	0.76494	0.997;0.997;0.999;0.999;0.999	D;D;D;D;D	0.87578	0.994;0.995;0.996;0.996;0.998	T	0.69580	-0.5107	10	0.72032	D	0.01	-2.897	16.8439	0.85975	0.0:0.0:1.0:0.0	.	299;299;299;299;299	Q9Y2X0-2;E7ETV0;Q9Y2X0-4;Q9Y2X0-3;Q9Y2X0	.;.;.;.;MED16_HUMAN	F	299;299;299;299;299;155;299	ENSP00000325612:S299F;ENSP00000308528:S299F;ENSP00000379153:S299F;ENSP00000269814:S299F	ENSP00000269814:S299F	S	-	2	0	MED16	835992	1.000000	0.71417	0.998000	0.56505	0.797000	0.45037	9.035000	0.93752	2.218000	0.71995	0.561000	0.74099	TCC		0.677	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3		NM_005481	
TTN	7273	broad.mit.edu;hgsc.bcm.edu	37	2	179403617	179403617	+	Intron	SNP	A	A	C			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr2:179403617A>C	ENST00000591111.1	-	304	94291				TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588716.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTGAAATAAAAGGACCAAA	0.368																																																	0													44.0	41.0	42.0					2																	179403617		1032	2125	3157	SO:0001627	intron_variant	100302152			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.94067-51T>G	2.37:g.179403617A>C			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	RNA	SNP	ENST00000591111.1	37																																																																																					0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
KMT2C	58508	hgsc.bcm.edu;ucsc.edu	37	7	151836874	151836875	+	Splice_Site	DEL	CC	CC	-			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	CC	CC	CC	-	CC	CC	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr7:151836874_151836875delCC	ENST00000262189.6	-	56	14563_14564	c.14345_14346delGG	c.(14344-14346)ggg>g	p.G4782fs	KMT2C_ENST00000355193.2_Splice_Site_p.G4839fs|KMT2C_ENST00000485655.2_5'UTR	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4782	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ACAGGCCCAGCCCCTAAAAAAA	0.416																																																	0																																										SO:0001630	splice_region_variant	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.14344-1GG>-	7.37:g.151836876_151836877delCC			Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	37	CCDS5931.1																																																																																				0.416	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			Frame_Shift_Del
MUC20	200958	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	195453061	195453061	+	Silent	SNP	C	C	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr3:195453061C>A	ENST00000447234.2	+	2	1713	c.1587C>A	c.(1585-1587)ccC>ccA	p.P529P	MUC20_ENST00000445522.2_Silent_p.P494P|MUC20_ENST00000320736.6_Silent_p.P358P|MUC20_ENST00000436408.1_Silent_p.P529P	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	529	Involved in oligomerization.		Missing. {ECO:0000269|PubMed:14702039}.		activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)		p.P529P(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		GCAGGAATCCCCTTGAAGAAA	0.567																																																	1	Substitution - coding silent(1)	kidney(1)											58.0	57.0	57.0					3																	195453061		2060	4194	6254	SO:0001819	synonymous_variant	200958			AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1587C>A	3.37:g.195453061C>A			Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Silent	SNP	ENST00000447234.2	37																																																																																					0.567	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1		NM_152673	
NCAPD3	23310	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	134079245	134079245	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr11:134079245A>T	ENST00000534548.2	-	5	758	c.694T>A	c.(694-696)Ttg>Atg	p.L232M		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	232					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.L232M(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TTTTCTTTCAAGGAAAACTTT	0.368																																																	1	Substitution - Missense(1)	kidney(1)											50.0	54.0	53.0					11																	134079245		2200	4296	6496	SO:0001583	missense	23310			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.694T>A	11.37:g.134079245A>T	ENSP00000433681:p.Leu232Met		A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.535762	0.64972	.	.	ENSG00000151503	ENST00000534548	T	0.61158	0.13	5.64	2.78	0.32641	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67277	0.2876	M	0.68952	2.095	0.80722	D	1	D	0.69078	0.997	P	0.60286	0.872	T	0.65821	-0.6075	10	0.46703	T	0.11	-16.9617	10.6255	0.45506	0.2093:0.0:0.7907:0.0	.	232	P42695	CNDD3_HUMAN	M	232	ENSP00000433681:L232M	ENSP00000431612:L232M	L	-	1	2	NCAPD3	133584455	1.000000	0.71417	0.975000	0.42487	0.786000	0.44442	2.891000	0.48617	0.477000	0.27464	-0.248000	0.11899	TTG		0.368	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2		NM_015261	
NECAB1	64168	broad.mit.edu;hgsc.bcm.edu	37	8	91962067	91962067	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr8:91962067G>A	ENST00000417640.2	+	11	1230	c.893G>A	c.(892-894)cGc>cAc	p.R298H	NECAB1_ENST00000521366.1_Missense_Mutation_p.R47H|NECAB1_ENST00000522820.1_Missense_Mutation_p.R47H	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	298	ABM.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R298H(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			AATGAATCTCGCTACATGATC	0.348																																																	1	Substitution - Missense(1)	kidney(1)											151.0	134.0	139.0					8																	91962067		1838	4095	5933	SO:0001583	missense	64168			AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	20983	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 1"""	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.893G>A	8.37:g.91962067G>A	ENSP00000387380:p.Arg298His		Q6NUS7|Q96AZ7|Q9HBW8	Missense_Mutation	SNP	ENST00000417640.2	37	CCDS47889.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.248749	0.59103	.	.	ENSG00000123119	ENST00000417640;ENST00000522820;ENST00000521366	T;T;T	0.32515	1.45;1.45;1.45	5.72	4.85	0.62838	Dimeric alpha-beta barrel (1);Antibiotic biosynthesis monooxygenase (1);	0.000000	0.85682	D	0.000000	T	0.25938	0.0632	L	0.41236	1.265	0.58432	D	0.999999	B	0.15473	0.013	B	0.10450	0.005	T	0.04870	-1.0921	10	0.56958	D	0.05	-16.6422	10.5972	0.45345	0.1551:0.0:0.8449:0.0	.	298	Q8N987	NECA1_HUMAN	H	298;47;47	ENSP00000387380:R298H;ENSP00000428953:R47H;ENSP00000428632:R47H	ENSP00000387380:R298H	R	+	2	0	NECAB1	92031243	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.421000	0.52742	1.436000	0.47453	0.655000	0.94253	CGC		0.348	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376728.1		NM_022351	
NFASC	23114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	204971726	204971726	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr1:204971726A>T	ENST00000401399.1	+	26	3338	c.3139A>T	c.(3139-3141)Aac>Tac	p.N1047Y	NFASC_ENST00000367172.4_Missense_Mutation_p.N1154Y|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000338586.6_Missense_Mutation_p.N1031Y|NFASC_ENST00000339876.6_Missense_Mutation_p.N1047Y|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000367170.4_Missense_Mutation_p.N1075Y|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.N1139Y|NFASC_ENST00000404076.1_Intron			O94856	NFASC_HUMAN	neurofascin	1154	Thr-rich.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.N1047Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TTCCCCAGGCAACCATACGAA	0.537																																																	1	Substitution - Missense(1)	kidney(1)											58.0	53.0	55.0					1																	204971726		1567	3582	5149	SO:0001583	missense	23114			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.3139A>T	1.37:g.204971726A>T	ENSP00000385637:p.Asn1047Tyr		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.75|14.75	2.629131|2.629131	0.46944|0.46944	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000339876;ENST00000338586;ENST00000401399|ENST00000413225	T;T;T;T;T;T|.	0.65178|.	1.43;1.43;1.43;1.43;-0.14;1.43|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.56097|.	D|.	0.000022|.	T|T	0.69196|0.69196	0.3084|0.3084	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	B;D|.	0.64830|.	0.04;0.994|.	B;P|.	0.60682|.	0.071;0.878|.	T|T	0.67325|0.67325	-0.5699|-0.5699	10|5	0.42905|.	T|.	0.14|.	.|.	15.5314|15.5314	0.75964|0.75964	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1031;1047|.	F8W8X7;O94856-9|.	.;.|.	Y|L	1154;1139;1075;1047;1031;1047|93	ENSP00000356140:N1154Y;ENSP00000356139:N1139Y;ENSP00000356138:N1075Y;ENSP00000344786:N1047Y;ENSP00000343509:N1031Y;ENSP00000385637:N1047Y|.	ENSP00000343509:N1031Y|.	N|Q	+|+	1|2	0|0	NFASC|NFASC	203238349|203238349	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.584000|4.584000	0.60971|0.60971	2.145000|2.145000	0.66743|0.66743	0.533000|0.533000	0.62120|0.62120	AAC|CAA		0.537	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1		NM_001005388	
NLRP4	147945	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	56363605	56363605	+	Silent	SNP	A	A	G			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr19:56363605A>G	ENST00000301295.6	+	2	581	c.159A>G	c.(157-159)gaA>gaG	p.E53E	NLRP4_ENST00000346986.5_Silent_p.E53E	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	53	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.E53E(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CATCCCGGGAAGAACTTGCAA	0.403																																																	1	Substitution - coding silent(1)	kidney(1)											79.0	80.0	80.0					19																	56363605		2203	4300	6503	SO:0001819	synonymous_variant	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.159A>G	19.37:g.56363605A>G			Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	CCDS12936.1																																																																																				0.403	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2		NM_134444	
OR10G4	390264	broad.mit.edu;hgsc.bcm.edu	37	11	123886863	123886863	+	Missense_Mutation	SNP	C	C	A	rs386758379|rs567111591		TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr11:123886863C>A	ENST00000320891.4	+	1	582	c.582C>A	c.(580-582)aaC>aaA	p.N194K		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N194K(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CCTCAGCCAACGTGATGGTCA	0.537																																																	1	Substitution - Missense(1)	kidney(1)											252.0	198.0	216.0					11																	123886863		2201	4299	6500	SO:0001583	missense	390264			AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.582C>A	11.37:g.123886863C>A	ENSP00000325076:p.Asn194Lys		Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	CCDS31702.1	.	.	.	.	.	.	.	.	.	.	c	2.618	-0.289320	0.05605	.	.	ENSG00000254737	ENST00000320891	T	0.00198	8.57	3.33	-6.67	0.01783	GPCR, rhodopsin-like superfamily (1);	0.127393	0.34750	N	0.003715	T	0.00178	0.0005	M	0.75884	2.315	0.09310	N	1	P	0.35575	0.51	B	0.44085	0.44	T	0.57694	-0.7767	10	0.06891	T	0.86	.	5.0567	0.14537	0.1921:0.5125:0.097:0.1985	.	194	Q8NGN3	O10G4_HUMAN	K	194	ENSP00000325076:N194K	ENSP00000325076:N194K	N	+	3	2	OR10G4	123392073	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.609000	0.00209	-4.363000	0.00054	-2.571000	0.00171	AAC		0.537	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1		NM_001004462	
OR6C6	283365	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	55688731	55688731	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr12:55688731C>T	ENST00000358433.2	-	1	285	c.286G>A	c.(286-288)Gca>Aca	p.A96T		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A96T(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AATTGAGTTGCACAATTATTA	0.373																																																	1	Substitution - Missense(1)	kidney(1)											40.0	43.0	42.0					12																	55688731		2203	4300	6503	SO:0001583	missense	283365				CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"""GPCR / Class A : Olfactory receptors"""	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.286G>A	12.37:g.55688731C>T	ENSP00000351211:p.Ala96Thr			Missense_Mutation	SNP	ENST00000358433.2	37	CCDS31817.1	.	.	.	.	.	.	.	.	.	.	-	6.454	0.451922	0.12283	.	.	ENSG00000188324	ENST00000358433	T	0.00397	7.57	4.24	3.34	0.38264	GPCR, rhodopsin-like superfamily (1);	0.922689	0.09001	N	0.862980	T	0.00271	0.0008	L	0.41573	1.285	0.23293	N	0.997962	B	0.22683	0.073	B	0.22601	0.04	T	0.40021	-0.9585	10	0.36615	T	0.2	.	5.0113	0.14313	0.1683:0.6504:0.0:0.1813	.	96	A6NF89	OR6C6_HUMAN	T	96	ENSP00000351211:A96T	ENSP00000351211:A96T	A	-	1	0	OR6C6	53974998	0.000000	0.05858	0.877000	0.34402	0.144000	0.21451	-2.473000	0.00988	1.132000	0.42129	0.580000	0.79431	GCA		0.373	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398151.1			
PADI3	51702	broad.mit.edu;ucsc.edu	37	1	17609393	17609393	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr1:17609393C>G	ENST00000375460.3	+	16	1854	c.1814C>G	c.(1813-1815)cCc>cGc	p.P605R		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	605					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.P605R(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CCCTTTGGGCCCATCATCAAT	0.607																																																	1	Substitution - Missense(1)	kidney(1)											65.0	52.0	57.0					1																	17609393		2203	4300	6503	SO:0001583	missense	51702			AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.1814C>G	1.37:g.17609393C>G	ENSP00000364609:p.Pro605Arg		Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	CCDS179.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.336319	0.81801	.	.	ENSG00000142619	ENST00000375460	T	0.52983	0.64	5.14	5.14	0.70334	Protein-arginine deiminase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77205	0.4096	M	0.93720	3.45	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.84020	0.0353	10	0.87932	D	0	-26.9383	17.188	0.86871	0.0:1.0:0.0:0.0	.	605	Q9ULW8	PADI3_HUMAN	R	605	ENSP00000364609:P605R	ENSP00000364609:P605R	P	+	2	0	PADI3	17481980	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	7.581000	0.82535	2.387000	0.81309	0.655000	0.94253	CCC		0.607	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52692236	52692236	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr3:52692236delA	ENST00000296302.7	-	5	625	c.624delT	c.(622-624)tttfs	p.F208fs	PBRM1_ENST00000409114.3_Frame_Shift_Del_p.F208fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.F208fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.F208fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.F208fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.F208fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.F208fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.F208fs			Q86U86	PB1_HUMAN	polybromo 1	208	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GCAGTTTCTGAAAAAGTTCGC	0.378			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	0													92.0	91.0	92.0					3																	52692236		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.624delT	3.37:g.52692236delA	ENSP00000296302:p.Phe208fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.378	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PDLIM4	8572	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	131606692	131606692	+	Missense_Mutation	SNP	G	G	C	rs141857035		TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr5:131606692G>C	ENST00000253754.3	+	4	476	c.412G>C	c.(412-414)Gga>Cga	p.G138R	PDLIM4_ENST00000379018.3_Missense_Mutation_p.G138R|P4HA2_ENST00000471826.1_Intron|PDLIM4_ENST00000484620.1_3'UTR	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	138							zinc ion binding (GO:0008270)	p.G138R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATCTCCATATGGACAACCCCC	0.632																																																	1	Substitution - Missense(1)	kidney(1)											154.0	155.0	155.0					5																	131606692		2203	4300	6503	SO:0001583	missense	8572			AF153882	CCDS4152.1, CCDS47261.1	5q31.1	2008-02-05			ENSG00000131435	ENSG00000131435			16501	protein-coding gene	gene with protein product		603422				9573374	Standard	NM_001131027		Approved	RIL	uc003kwn.3	P50479	OTTHUMG00000059645	ENST00000253754.3:c.412G>C	5.37:g.131606692G>C	ENSP00000253754:p.Gly138Arg		B2R8U1|Q53Y39|Q96AT8|Q9BTW8|Q9Y292	Missense_Mutation	SNP	ENST00000253754.3	37	CCDS4152.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713475	0.48517	.	.	ENSG00000131435	ENST00000253754;ENST00000379018;ENST00000418373	T;T;T	0.30981	2.78;2.09;1.51	4.94	4.94	0.65067	.	0.305454	0.35235	N	0.003346	T	0.47637	0.1456	L	0.51422	1.61	0.38742	D	0.953902	D;D;P	0.89917	0.988;1.0;0.868	P;D;B	0.97110	0.694;1.0;0.383	T	0.50363	-0.8837	10	0.72032	D	0.01	-24.3211	11.3755	0.49726	0.0:0.1828:0.8172:0.0	.	138;79;138	P50479-2;C9J542;P50479	.;.;PDLI4_HUMAN	R	138;138;79	ENSP00000253754:G138R;ENSP00000368303:G138R;ENSP00000411753:G79R	ENSP00000253754:G138R	G	+	1	0	PDLIM4	131634591	0.947000	0.32204	0.995000	0.50966	0.940000	0.58332	1.635000	0.37134	2.575000	0.86900	0.455000	0.32223	GGA		0.632	PDLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132644.2		NM_003687	
PCDHGA1	56114	broad.mit.edu;hgsc.bcm.edu	37	5	140712348	140712348	+	Silent	SNP	G	G	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr5:140712348G>A	ENST00000517417.1	+	1	2097	c.2097G>A	c.(2095-2097)gcG>gcA	p.A699A	PCDHGA1_ENST00000378105.3_Silent_p.A699A	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	699					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A699A(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCGGCCGCGGTCTCCTGCG	0.662																																																	2	Substitution - coding silent(2)	kidney(2)											66.0	77.0	74.0					5																	140712348		2203	4298	6501	SO:0001819	synonymous_variant	56114			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2097G>A	5.37:g.140712348G>A			Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	CCDS54922.1																																																																																				0.662	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1		NM_018912	
PHLPP2	23035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	71683884	71683884	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr16:71683884A>C	ENST00000568954.1	-	19	3259	c.2881T>G	c.(2881-2883)Tgg>Ggg	p.W961G	PHLPP2_ENST00000356272.3_Missense_Mutation_p.W961G|PHLPP2_ENST00000567016.1_Missense_Mutation_p.W996G|PHLPP2_ENST00000393524.2_Missense_Mutation_p.W894G|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000540628.1_Intron			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	961	PP2C-like.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.W961G(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GGGAGGATCCAAGGGTAGAGG	0.493																																																	1	Substitution - Missense(1)	kidney(1)											85.0	77.0	80.0					16																	71683884		2198	4300	6498	SO:0001583	missense	23035			BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.2881T>G	16.37:g.71683884A>C	ENSP00000457991:p.Trp961Gly		A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.593159	0.46214	.	.	ENSG00000040199	ENST00000356272;ENST00000393524	T;T	0.08370	3.1;3.1	5.49	5.49	0.81192	Protein phosphatase 2C-like (4);	0.000000	0.85682	D	0.000000	T	0.19127	0.0459	L	0.38692	1.165	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.03795	-1.1003	10	0.25751	T	0.34	-9.1673	14.8012	0.69916	1.0:0.0:0.0:0.0	.	894;961	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	G	961;894	ENSP00000348611:W961G;ENSP00000377159:W894G	ENSP00000348611:W961G	W	-	1	0	PHLPP2	70241385	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	6.166000	0.71896	2.087000	0.62958	0.455000	0.32223	TGG		0.493	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1		NM_015020	
PKD2L1	9033	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	102089625	102089625	+	Splice_Site	SNP	C	C	T			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr10:102089625C>T	ENST00000318222.3	-	1	618		c.e1+1		PKD2L1_ENST00000353274.3_Splice_Site|PKD2L1_ENST00000338519.3_Splice_Site	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1						cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)	p.?(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CTATCTGGTACCTCTGATGCC	0.547																																																	1	Unknown(1)	kidney(1)											70.0	72.0	71.0					10																	102089625		2203	4300	6503	SO:0001630	splice_region_variant	9033			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.235+1G>A	10.37:g.102089625C>T			O75972|Q5W039|Q9UP35|Q9UPA2	Splice_Site	SNP	ENST00000318222.3	37	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	C	9.534	1.111685	0.20714	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000465680;ENST00000318222;ENST00000339977	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1288	0.81412	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PKD2L1	102079615	1.000000	0.71417	1.000000	0.80357	0.067000	0.16453	4.386000	0.59620	2.473000	0.83533	0.650000	0.86243	.		0.547	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2		NM_016112	Intron
PMS2	5395	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	6048687	6048687	+	5'UTR	SNP	G	G	C			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr7:6048687G>C	ENST00000265849.7	-	0	69				PMS2_ENST00000469652.1_5'Flank|PMS2_ENST00000406569.3_5'Flank|PMS2_ENST00000382321.4_5'Flank|AIMP2_ENST00000395236.2_5'Flank|AIMP2_ENST00000400479.2_5'Flank|AIMP2_ENST00000223029.3_5'Flank	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)						ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GACTGGGAAAGTTCCCTCCAG	0.647			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0													28.0	31.0	30.0					7																	6048687		2203	4300	6503	SO:0001623	5_prime_UTR_variant	5395	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.-37C>G	7.37:g.6048687G>C			B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	RNA	SNP	ENST00000265849.7	37	CCDS5343.1																																																																																				0.647	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3		NM_000535	
PRDM11	56981	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	45245952	45245953	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr11:45245952_45245953GG>AA	ENST00000530656.1	+	7	1029_1030	c.1029_1030GG>AA	c.(1027-1032)ctGGag>ctAAag	p.E344K	PRDM11_ENST00000263765.4_Missense_Mutation_p.E344K|PRDM11_ENST00000424263.2_Missense_Mutation_p.E310K|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_Intron			Q9NQV5	PRD11_HUMAN	PR domain containing 11	344							methyltransferase activity (GO:0008168)	p.L343L(1)|p.L343>?(1)|p.E344K(1)		endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AGGATGTTCTGGAGGCCTCACT	0.52																																					NSCLC(118;1511 1736 6472 36603 43224)												3	Substitution - Missense(1)|Substitution - coding silent(1)|Complex(1)	kidney(3)																																								SO:0001583	missense	56981			AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	Exception_encountered	11.37:g.45245952_45245953delinsAA	ENSP00000435976:p.Glu344Lys		Q8N9F1	Silent|Missense_Mutation	SNP	ENST00000530656.1	37																																																																																					0.520	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1		NM_020229	
RAD51AP2	729475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	17696802	17696802	+	Missense_Mutation	SNP	C	C	G	rs140673266	byFrequency	TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr2:17696802C>G	ENST00000399080.2	-	1	2904	c.2881G>C	c.(2881-2883)Gat>Cat	p.D961H		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	961								p.D961H(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATCTCAAAATCTTTTACTATT	0.323																																																	1	Substitution - Missense(1)	kidney(1)											36.0	35.0	35.0					2																	17696802		1799	4073	5872	SO:0001583	missense	729475			AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.2881G>C	2.37:g.17696802C>G	ENSP00000382030:p.Asp961His			Missense_Mutation	SNP	ENST00000399080.2	37	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364606	0.24684	.	.	ENSG00000214842	ENST00000399080	T	0.33865	1.39	5.17	3.38	0.38709	.	.	.	.	.	T	0.37945	0.1022	N	0.14661	0.345	0.23645	N	0.997219	D	0.76494	0.999	D	0.66979	0.948	T	0.15321	-1.0441	9	0.41790	T	0.15	-1.3225	9.0995	0.36660	0.0:0.7909:0.0:0.2091	.	961	Q09MP3	R51A2_HUMAN	H	961	ENSP00000382030:D961H	ENSP00000382030:D961H	D	-	1	0	RAD51AP2	17560283	0.389000	0.25205	0.732000	0.30844	0.945000	0.59286	0.765000	0.26546	0.705000	0.31890	0.655000	0.94253	GAT		0.323	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3		NM_001099218	
RERG	85004	broad.mit.edu;ucsc.edu	37	12	15262351	15262351	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr12:15262351A>C	ENST00000256953.2	-	5	629	c.293T>G	c.(292-294)cTt>cGt	p.L98R	RERG-IT1_ENST00000539734.1_RNA|RERG_ENST00000546331.1_Missense_Mutation_p.L79R|RERG_ENST00000538313.1_Missense_Mutation_p.L98R|RERG_ENST00000536465.1_Missense_Mutation_p.L98R	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	98					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.L98R(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						GATGTTCTTAAGTGGCAGCAC	0.488																																																	1	Substitution - Missense(1)	kidney(1)											312.0	311.0	311.0					12																	15262351		2203	4300	6503	SO:0001583	missense	85004			AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.293T>G	12.37:g.15262351A>C	ENSP00000256953:p.Leu98Arg		B2R9R0|B4DI02	Missense_Mutation	SNP	ENST00000256953.2	37	CCDS8673.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.377733	0.82682	.	.	ENSG00000134533	ENST00000256953;ENST00000538313;ENST00000536465;ENST00000546331;ENST00000545567	T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-0.63	5.23	5.23	0.72850	Small GTP-binding protein domain (1);	0.059091	0.64402	D	0.000001	D	0.86510	0.5950	M	0.71206	2.165	0.80722	D	1	D;D	0.65815	0.993;0.995	D;D	0.70935	0.938;0.971	D	0.88106	0.2822	10	0.87932	D	0	.	14.2414	0.65959	1.0:0.0:0.0:0.0	.	79;98	B4DI02;Q96A58	.;RERG_HUMAN	R	98;98;98;79;111	ENSP00000256953:L98R;ENSP00000441505:L98R;ENSP00000438280:L98R;ENSP00000444485:L79R;ENSP00000439532:L111R	ENSP00000256953:L98R	L	-	2	0	RERG	15153618	1.000000	0.71417	0.995000	0.50966	0.966000	0.64601	9.282000	0.95840	2.107000	0.64212	0.533000	0.62120	CTT		0.488	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400882.1		NM_032918	
RSPRY1	89970	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	57255221	57255221	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr16:57255221G>C	ENST00000537866.1	+	10	1928	c.1055G>C	c.(1054-1056)tGc>tCc	p.C352S	RSPRY1_ENST00000394420.4_Missense_Mutation_p.C352S			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	352	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular region (GO:0005576)	zinc ion binding (GO:0008270)	p.C352S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						AGTGTGCGTTGCACCTTTTGT	0.488																																																	1	Substitution - Missense(1)	kidney(1)											185.0	175.0	178.0					16																	57255221		2198	4300	6498	SO:0001583	missense	89970			AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.1055G>C	16.37:g.57255221G>C	ENSP00000443176:p.Cys352Ser		Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198456	0.79015	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	T;T	0.72835	-0.69;-0.69	6.03	6.03	0.97812	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	T	0.77039	0.4072	L	0.49513	1.565	0.80722	D	1	D	0.55800	0.973	P	0.53549	0.729	T	0.72861	-0.4164	10	0.34782	T	0.22	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	352	Q96DX4	RSPRY_HUMAN	S	352	ENSP00000377942:C352S;ENSP00000443176:C352S	ENSP00000377942:C352S	C	+	2	0	RSPRY1	55812722	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.830000	0.99415	2.861000	0.98227	0.655000	0.94253	TGC		0.488	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1		NM_133368	
RSPRY1	89970	broad.mit.edu;ucsc.edu	37	16	57255223	57255223	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr16:57255223A>T	ENST00000537866.1	+	10	1930	c.1057A>T	c.(1057-1059)Acc>Tcc	p.T353S	RSPRY1_ENST00000394420.4_Missense_Mutation_p.T353S			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	353	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular region (GO:0005576)	zinc ion binding (GO:0008270)	p.T353S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TGTGCGTTGCACCTTTTGTGT	0.483																																																	1	Substitution - Missense(1)	kidney(1)											185.0	174.0	178.0					16																	57255223		2198	4300	6498	SO:0001583	missense	89970			AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.1057A>T	16.37:g.57255223A>T	ENSP00000443176:p.Thr353Ser		Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	A	32	5.124578	0.94429	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	T;T	0.72394	-0.65;-0.65	6.03	6.03	0.97812	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	T	0.82070	0.4957	M	0.65320	2	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.81629	-0.0846	10	0.44086	T	0.13	.	16.5582	0.84512	1.0:0.0:0.0:0.0	.	353	Q96DX4	RSPRY_HUMAN	S	353	ENSP00000377942:T353S;ENSP00000443176:T353S	ENSP00000377942:T353S	T	+	1	0	RSPRY1	55812724	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.303000	0.96183	2.308000	0.77769	0.533000	0.62120	ACC		0.483	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1		NM_133368	
SEZ6	124925	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	27284413	27284413	+	Missense_Mutation	SNP	C	C	T	rs117736100	byFrequency	TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr17:27284413C>T	ENST00000317338.12	-	12	2875	c.2447G>A	c.(2446-2448)cGc>cAc	p.R816H	SEZ6_ENST00000442608.3_Missense_Mutation_p.R816H|SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000360295.9_Missense_Mutation_p.R816H|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	816	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.R816H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GCCAGCCTGGCGATCATGGCA	0.547													C|||	2	0.000399361	0.0	0.0	5008	,	,		19881	0.001		0.001	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)						C	HIS/ARG,HIS/ARG	2,3898		0,2,1948	101.0	112.0	109.0		2447,2447	5.7	1.0	17	dbSNP_132	109	16,8244		0,16,4114	yes	missense,missense	SEZ6	NM_001098635.1,NM_178860.4	29,29	0,18,6062	TT,TC,CC		0.1937,0.0513,0.148	probably-damaging,probably-damaging	816/994,816/995	27284413	18,12142	1950	4130	6080	SO:0001583	missense	124925			AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.2447G>A	17.37:g.27284413C>T	ENSP00000312942:p.Arg816His		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	37	CCDS45639.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	C	24.3	4.511318	0.85389	5.13E-4	0.001937	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000541381	T;T	0.63255	-0.03;-0.03	5.69	5.69	0.88448	Complement control module (2);Sushi/SCR/CCP (3);	0.062845	0.64402	D	0.000006	T	0.78362	0.4271	M	0.69248	2.105	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.992	T	0.79529	-0.1766	10	0.72032	D	0.01	.	17.2921	0.87159	0.0:1.0:0.0:0.0	.	816;691;816	Q53EL9-3;Q53EL9-2;Q53EL9	.;.;SEZ6_HUMAN	H	816;816;691;816	ENSP00000403784:R816H;ENSP00000353440:R816H	ENSP00000312942:R691H	R	-	2	0	SEZ6	24308539	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.466000	0.80914	2.693000	0.91896	0.313000	0.20887	CGC		0.547	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			
SLC10A7	84068	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	147438224	147438224	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr4:147438224A>G	ENST00000507030.1	-	2	148	c.149T>C	c.(148-150)aTa>aCa	p.I50T	SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000335472.7_Missense_Mutation_p.I50T|SLC10A7_ENST00000502607.1_Missense_Mutation_p.I50T|SLC10A7_ENST00000264986.3_Missense_Mutation_p.I50T|SLC10A7_ENST00000432059.2_Missense_Mutation_p.I50T|SLC10A7_ENST00000394059.4_Missense_Mutation_p.I50T|SLC10A7_ENST00000511374.1_Missense_Mutation_p.I50T|SLC10A7_ENST00000394062.3_Missense_Mutation_p.I50T			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	50					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.I50T(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					GTTAAAGAATATTGTTGCAAC	0.318																																																	2	Substitution - Missense(2)	kidney(2)											221.0	233.0	229.0					4																	147438224		2203	4300	6503	SO:0001583	missense	84068			AY346324	CCDS3768.1, CCDS34073.1, CCDS75198.1	4q31.2	2013-07-18	2013-07-18	2006-12-19	ENSG00000120519	ENSG00000120519		"""Solute carriers"""	23088	protein-coding gene	gene with protein product		611459	"""chromosome 4 open reading frame 13"""	C4orf13		15932064	Standard	NM_032128		Approved	MGC25043, DKFZp566M114, DKFZp313H0531, DKFZp779O2438	uc003ikr.2	Q0GE19	OTTHUMG00000161437	ENST00000507030.1:c.149T>C	4.37:g.147438224A>G	ENSP00000421275:p.Ile50Thr		A7E2E6|A7MAX9|Q0VAP9|Q45NG1|Q45NG2|Q5H9S6|Q6P4E6|Q8IZ62|Q8NBP8|Q9H0M9	Missense_Mutation	SNP	ENST00000507030.1	37	CCDS34073.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.317296	0.81469	.	.	ENSG00000120519	ENST00000432059;ENST00000335472;ENST00000264986;ENST00000507030;ENST00000394062;ENST00000394059;ENST00000511374;ENST00000502607	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.83986	0.5373	M	0.87097	2.86	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.989;0.974;0.996;0.999	D	0.87113	0.2186	9	0.87932	D	0	-22.4516	15.5607	0.76244	1.0:0.0:0.0:0.0	.	50;50;50;50	Q0GE19-3;Q0GE19;Q0GE19-5;Q0GE19-2	.;NTCP7_HUMAN;.;.	T	50	.	ENSP00000264986:I50T	I	-	2	0	SLC10A7	147657674	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.149000	0.89632	2.087000	0.62958	0.482000	0.46254	ATA		0.318	SLC10A7-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366932.1		NM_032128	
SLC22A13	9390	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	38307442	38307442	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr3:38307442C>A	ENST00000311856.4	+	1	140	c.91C>A	c.(91-93)Ctg>Atg	p.L31M	SLC22A13_ENST00000450935.2_5'UTR	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	31					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)	p.L31M(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TCTCAACTTCCTGTCTCCCTT	0.498																																																	1	Substitution - Missense(1)	kidney(1)											223.0	185.0	198.0					3																	38307442		2203	4300	6503	SO:0001583	missense	9390			AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"""Solute carriers"""	8494	protein-coding gene	gene with protein product		604047	"""organic cationic transporter-like 3"", ""solute carrier family 22 (organic anion transporter), member 13"""	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.91C>A	3.37:g.38307442C>A	ENSP00000310241:p.Leu31Met		B2RCV9|Q8IYG1	Missense_Mutation	SNP	ENST00000311856.4	37	CCDS2676.1	.	.	.	.	.	.	.	.	.	.	.	9.735	1.163195	0.21538	.	.	ENSG00000172940	ENST00000311856	T	0.67171	-0.25	4.71	2.76	0.32466	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.130904	0.52532	D	0.000072	T	0.74512	0.3726	M	0.74389	2.26	0.28824	N	0.897531	D;D	0.58620	0.983;0.97	P;P	0.61201	0.885;0.77	T	0.66272	-0.5965	10	0.34782	T	0.22	.	8.0609	0.30633	0.2489:0.6702:0.0:0.081	.	31;31	Q9Y226-2;Q9Y226	.;S22AD_HUMAN	M	31	ENSP00000310241:L31M	ENSP00000310241:L31M	L	+	1	2	SLC22A13	38282446	0.001000	0.12720	0.315000	0.25238	0.064000	0.16182	0.596000	0.24044	1.125000	0.41998	0.563000	0.77884	CTG		0.498	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253746.2		NM_004256	
SOX5	6660	broad.mit.edu;ucsc.edu	37	12	23818447	23818447	+	Missense_Mutation	SNP	G	G	A	rs557463084		TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr12:23818447G>A	ENST00000451604.2	-	7	963	c.862C>T	c.(862-864)Cgg>Tgg	p.R288W	SOX5_ENST00000541536.1_Missense_Mutation_p.R275W|SOX5_ENST00000537393.1_Missense_Mutation_p.R253W|SOX5_ENST00000381381.2_Missense_Mutation_p.R275W|SOX5_ENST00000546136.1_Missense_Mutation_p.R275W|SOX5_ENST00000309359.1_Missense_Mutation_p.R275W|SOX5_ENST00000545921.1_Missense_Mutation_p.R278W			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	288					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R288W(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GCCAGTGTCCGTTGATCAGGA	0.498													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17651	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											128.0	128.0	128.0					12																	23818447		2203	4300	6503	SO:0001583	missense	6660			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.862C>T	12.37:g.23818447G>A	ENSP00000398273:p.Arg288Trp		B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908764	0.72868	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921	D;D;D;D;D;D;D	0.97688	-4.48;-4.48;-4.38;-4.49;-4.45;-4.38;-4.48	5.34	4.43	0.53597	.	0.165410	0.49916	D	0.000132	D	0.98441	0.9481	M	0.77313	2.365	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.988;1.0	D	0.99353	1.0915	10	0.87932	D	0	.	13.1329	0.59393	0.0:0.0:0.709:0.291	.	253;275;288	F5H0I3;P35711-4;P35711	.;.;SOX5_HUMAN	W	275;275;275;288;240;253;275;278	ENSP00000437487:R275W;ENSP00000308927:R275W;ENSP00000370788:R275W;ENSP00000398273:R288W;ENSP00000439832:R253W;ENSP00000441973:R275W;ENSP00000443520:R278W	ENSP00000308927:R275W	R	-	1	2	SOX5	23709714	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.698000	0.54771	1.434000	0.47414	0.655000	0.94253	CGG		0.498	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2		NM_006940	
TLN1	7094	broad.mit.edu	37	9	35718904	35718904	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr9:35718904G>T	ENST00000314888.9	-	17	2253	c.1900C>A	c.(1900-1902)Cgt>Agt	p.R634S	TLN1_ENST00000540444.1_Missense_Mutation_p.R634S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	634					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.R634S(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGGTTCTGACGGGGCTGTGGA	0.597																																																	1	Substitution - Missense(1)	kidney(1)											37.0	30.0	32.0					9																	35718904		2203	4300	6503	SO:0001583	missense	7094			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.1900C>A	9.37:g.35718904G>T	ENSP00000316029:p.Arg634Ser		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908254	0.92107	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.70399	-0.46;-0.48	6.11	6.11	0.99139	Talin, central (3);	0.000000	0.85682	D	0.000000	D	0.86176	0.5870	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86104	0.1558	10	0.72032	D	0.01	-9.0498	20.7342	0.99715	0.0:0.0:1.0:0.0	.	634	Q9Y490	TLN1_HUMAN	S	634	ENSP00000316029:R634S;ENSP00000442981:R634S	ENSP00000316029:R634S	R	-	1	0	TLN1	35708904	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.903000	0.87398	2.906000	0.99361	0.655000	0.94253	CGT		0.597	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2		NM_006289	
TRIM6	117854	hgsc.bcm.edu;ucsc.edu	37	11	5624941	5624943	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	GGA	GGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr11:5624941_5624943delGGA	ENST00000278302.5	+	2	539_541	c.399_401delGGA	c.(397-402)gtggag>gtg	p.E135del	TRIM6_ENST00000515022.1_Intron|TRIM6_ENST00000507320.1_5'UTR|TRIM6_ENST00000506134.1_Intron|TRIM6_ENST00000445329.1_5'UTR|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000380107.1_In_Frame_Del_p.E109del|TRIM6_ENST00000380097.3_In_Frame_Del_p.E163del|TRIM6-TRIM34_ENST00000354852.5_In_Frame_Del_p.E163del|HBG2_ENST00000380259.2_Intron	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	135					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		CGTTCCTCGTGGAGGAGGTTGCC	0.522																																																	0																																										SO:0001651	inframe_deletion	117854			AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.399_401delGGA	11.37:g.5624944_5624946delGGA	ENSP00000278302:p.Glu135del		A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	In_Frame_Del	DEL	ENST00000278302.5	37	CCDS31390.1																																																																																				0.522	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2		NM_001003818	
TRUB1	142940	broad.mit.edu	37	10	116698112	116698112	+	Missense_Mutation	SNP	A	A	C	rs199739741		TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr10:116698112A>C	ENST00000298746.3	+	1	161	c.100A>C	c.(100-102)Acc>Ccc	p.T34P		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	34					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.T34P(1)		breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		AATGGCTGCGACCCCGTCAGC	0.637																																																	1	Substitution - Missense(1)	kidney(1)											10.0	12.0	11.0					10																	116698112		2149	4210	6359	SO:0001583	missense	142940			AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832			16060	protein-coding gene	gene with protein product		610726	"""TruB pseudouridine (psi) synthase homolog 1 (E. coli)"""			12736709	Standard	NM_139169		Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.100A>C	10.37:g.116698112A>C	ENSP00000298746:p.Thr34Pro		B2R716|Q53ES2	Missense_Mutation	SNP	ENST00000298746.3	37	CCDS7591.1	.	.	.	.	.	.	.	.	.	.	A	16.81	3.226928	0.58668	.	.	ENSG00000165832	ENST00000298746	T	0.47528	0.84	5.36	-0.135	0.13477	.	1.208560	0.05856	N	0.622118	T	0.36580	0.0972	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36578	-0.9742	10	0.72032	D	0.01	0.0098	5.2826	0.15684	0.4598:0.1581:0.3821:0.0	.	34	Q8WWH5	TRUB1_HUMAN	P	34	ENSP00000298746:T34P	ENSP00000298746:T34P	T	+	1	0	TRUB1	116688102	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-0.006000	0.12833	0.023000	0.15187	-0.250000	0.11733	ACC		0.637	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050504.1		NM_139169	
TTLL4	9654	broad.mit.edu;ucsc.edu	37	2	219609908	219609908	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr2:219609908T>A	ENST00000392102.1	+	6	2078	c.1738T>A	c.(1738-1740)Ttt>Att	p.F580I	TTLL4_ENST00000258398.4_Missense_Mutation_p.F580I|TTLL4_ENST00000442769.1_Missense_Mutation_p.F580I|TTLL4_ENST00000457313.1_Missense_Mutation_p.F415I	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	580					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)	p.F580I(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CTACAGTCTCTTTCCCAACGT	0.498																																					GBM(172;1818 2053 15407 20943 49753)												1	Substitution - Missense(1)	kidney(1)											191.0	186.0	187.0					2																	219609908		2203	4300	6503	SO:0001583	missense	9654				CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.1738T>A	2.37:g.219609908T>A	ENSP00000375951:p.Phe580Ile		A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	T	31	5.069628	0.93950	.	.	ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	T;T;T;T	0.19938	3.11;3.32;2.11;3.32	5.3	5.3	0.74995	.	0.194441	0.34200	N	0.004164	T	0.49133	0.1539	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.971;0.994;0.997	T	0.54443	-0.8293	10	0.87932	D	0	.	14.586	0.68326	0.0:0.0:0.0:1.0	.	415;580;580	E9PH58;E7EX20;Q14679	.;.;TTLL4_HUMAN	I	415;580;580;580	ENSP00000393332:F415I;ENSP00000375951:F580I;ENSP00000396555:F580I;ENSP00000258398:F580I	ENSP00000258398:F580I	F	+	1	0	TTLL4	219318152	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.338000	0.72963	2.226000	0.72624	0.533000	0.62120	TTT		0.498	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1		NM_014640	
VHL	7428	hgsc.bcm.edu;ucsc.edu	37	3	10188319	10188344	+	Splice_Site	DEL	AGGTACTGACGTTTTACTTTTTAAAA	AGGTACTGACGTTTTACTTTTTAAAA	-	rs5030814|rs397516443|rs5030834|rs143844761	byFrequency	TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	AGGTACTGACGTTTTACTTTTTAAAA	AGGTACTGACGTTTTACTTTTTAAAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr3:10188319_10188344delAGGTACTGACGTTTTACTTTTTAAAA	ENST00000256474.2	+	2	1302_1303	c.462_463delAGGTACTGACGTTTTACTTTTTAAAA	c.(460-465)ccaggt>ccgt	p.G155fs	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	155	Involved in binding to CCT complex.		V -> G (in VHLD; type II). {ECO:0000269|Ref.41}.|V -> M (in VHLD; with RCC).		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.?(29)|p.V155L(6)|p.V155fs*4(4)|p.V155M(3)|p.P154P(1)|p.?fs(1)|p.L153fs*4(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)		TCACACTGCCAGGTACTGACGTTTTACTTTTTAAAAAGATAAGGTT	0.398		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"""	45	Unknown(29)|Substitution - Missense(9)|Deletion - Frameshift(5)|Substitution - coding silent(1)|Insertion - Frameshift(1)	kidney(43)|adrenal_gland(1)|endometrium(1)	GRCh37	CD951877|CM023999|CS003080|CS004297|CS011850|CS066318|CS951541|CS961707|CS961708	VHL	D|M|S	rs5030814|rs5030815|rs5030834																																			SO:0001630	splice_region_variant	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.463+1AGGTACTGACGTTTTACTTTTTAAAA>-	3.37:g.10188319_10188344delAGGTACTGACGTTTTACTTTTTAAAA			B2RE45|Q13599|Q6PDA9	In_Frame_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.398	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	Frame_Shift_Del
VPS13D	55187	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	12408985	12408985	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr1:12408985G>A	ENST00000358136.3	+	45	9305	c.9175G>A	c.(9175-9177)Gag>Aag	p.E3059K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E3034K	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.E3059K(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAACAGACTTGAGACACCAAT	0.463																																																	1	Substitution - Missense(1)	kidney(1)											121.0	110.0	114.0					1																	12408985		2203	4300	6503	SO:0001583	missense	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.9175G>A	1.37:g.12408985G>A	ENSP00000350854:p.Glu3059Lys			Missense_Mutation	SNP	ENST00000358136.3	37	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848647	0.91277	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.52057	0.68;0.69	5.91	5.91	0.95273	.	0.048878	0.85682	D	0.000000	T	0.36413	0.0966	N	0.14661	0.345	0.80722	D	1	B;B	0.28082	0.2;0.126	B;B	0.28011	0.077;0.085	T	0.11916	-1.0568	10	0.38643	T	0.18	.	19.8836	0.96906	0.0:0.0:1.0:0.0	.	3034;3058	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	K	3034;3059	ENSP00000348666:E3034K;ENSP00000350854:E3059K	ENSP00000348666:E3034K	E	+	1	0	VPS13D	12331572	1.000000	0.71417	0.983000	0.44433	0.998000	0.95712	9.476000	0.97823	2.791000	0.96007	0.650000	0.86243	GAG		0.463	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2		NM_015378	
WDR91	29062	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	134891906	134891906	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr7:134891906T>A	ENST00000354475.4	-	4	591	c.560A>T	c.(559-561)cAg>cTg	p.Q187L	WDR91_ENST00000485942.1_5'Flank|WDR91_ENST00000423565.1_Missense_Mutation_p.Q152L|WDR91_ENST00000344400.5_Missense_Mutation_p.Q187L	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	187								p.Q187L(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						TTCTTGAACCTGGTTAGTCCT	0.448																																																	1	Substitution - Missense(1)	kidney(1)											116.0	101.0	106.0					7																	134891906		2203	4300	6503	SO:0001583	missense	29062			AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"""WD repeat domain containing"""	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.560A>T	7.37:g.134891906T>A	ENSP00000346466:p.Gln187Leu		A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Missense_Mutation	SNP	ENST00000354475.4	37	CCDS34758.1	.	.	.	.	.	.	.	.	.	.	T	10.70	1.423842	0.25639	.	.	ENSG00000105875	ENST00000344400;ENST00000354475;ENST00000423565	D;D;D	0.91237	-2.81;-2.81;-2.81	5.87	4.65	0.58169	.	0.519401	0.22913	N	0.054110	T	0.76608	0.4011	N	0.08118	0	0.24512	N	0.994206	B	0.02656	0.0	B	0.01281	0.0	T	0.60449	-0.7261	10	0.22706	T	0.39	-16.3206	5.0786	0.14644	0.2483:0.0826:0.0:0.6691	.	187	A4D1P6	WDR91_HUMAN	L	187;187;152	ENSP00000340877:Q187L;ENSP00000346466:Q187L;ENSP00000392555:Q152L	ENSP00000340877:Q187L	Q	-	2	0	WDR91	134542446	0.997000	0.39634	1.000000	0.80357	0.880000	0.50808	2.261000	0.43276	2.251000	0.74343	0.529000	0.55759	CAG		0.448	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1		NM_014149	
WHSC1	7468	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	1980470	1980470	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr4:1980470C>T	ENST00000382895.3	+	24	4363	c.3932C>T	c.(3931-3933)aCa>aTa	p.T1311I	WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000508803.1_Missense_Mutation_p.T1311I|WHSC1_ENST00000382892.2_Missense_Mutation_p.T1311I|WHSC1_ENST00000382888.3_Missense_Mutation_p.T659I|WHSC1_ENST00000382891.5_Missense_Mutation_p.T1311I	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1311					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.T1311I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CAGGACGGGACAGCCTTCAGC	0.582			T	IGH@	MM																																			Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	1	Substitution - Missense(1)	kidney(1)											75.0	72.0	73.0					4																	1980470		2203	4300	6503	SO:0001583	missense	7468			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.3932C>T	4.37:g.1980470C>T	ENSP00000372351:p.Thr1311Ile		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745541	0.49151	.	.	ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02	4.95	4.95	0.65309	.	0.343906	0.24717	N	0.036175	T	0.61073	0.2318	N	0.20685	0.6	0.80722	D	1	B;B	0.32245	0.04;0.361	B;B	0.24155	0.045;0.051	T	0.61836	-0.6981	10	0.37606	T	0.19	.	11.7889	0.52057	0.0:0.9199:0.0:0.0801	.	659;1311	A2A2T2;O96028	.;NSD2_HUMAN	I	1311;1311;1311;1311;659	ENSP00000423972:T1311I;ENSP00000372347:T1311I;ENSP00000372348:T1311I;ENSP00000372351:T1311I;ENSP00000372344:T659I	ENSP00000372344:T659I	T	+	2	0	WHSC1	1950268	0.003000	0.15002	0.009000	0.14445	0.924000	0.55760	0.412000	0.21131	2.570000	0.86706	0.655000	0.94253	ACA		0.582	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2		NM_133330	
YIPF4	84272	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	32526479	32526479	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr2:32526479T>C	ENST00000238831.4	+	5	758	c.512T>C	c.(511-513)aTa>aCa	p.I171T		NM_032312.3	NP_115688.1	Q9BSR8	YIPF4_HUMAN	Yip1 domain family, member 4	171						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)		p.I171T(1)		kidney(2)|lung(3)|prostate(3)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					CTTGGAGTTATAGGATATTCA	0.318																																																	1	Substitution - Missense(1)	kidney(1)											165.0	152.0	156.0					2																	32526479		2203	4299	6502	SO:0001583	missense	84272			AK098486	CCDS1781.1	2p22.3	2008-02-05			ENSG00000119820	ENSG00000119820		"""Yip1 domain family"""	28145	protein-coding gene	gene with protein product						12477932	Standard	NM_032312		Approved	MGC11061, FinGER4	uc002rok.3	Q9BSR8	OTTHUMG00000128452	ENST00000238831.4:c.512T>C	2.37:g.32526479T>C	ENSP00000238831:p.Ile171Thr			Missense_Mutation	SNP	ENST00000238831.4	37	CCDS1781.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.126714	0.77549	.	.	ENSG00000119820	ENST00000238831	T	0.40225	1.04	5.88	5.88	0.94601	Yip1 domain (1);	0.000000	0.85682	D	0.000000	T	0.46580	0.1400	M	0.84326	2.69	0.58432	D	0.999998	P	0.37914	0.611	B	0.32342	0.144	T	0.56141	-0.8028	10	0.87932	D	0	.	14.0289	0.64604	0.0:0.0:0.0:1.0	.	171	Q9BSR8	YIPF4_HUMAN	T	171	ENSP00000238831:I171T	ENSP00000238831:I171T	I	+	2	0	YIPF4	32379983	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.800000	0.75165	2.242000	0.73789	0.533000	0.62120	ATA		0.318	YIPF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250250.3		NM_032312	
