#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SRSF4	6429	broad.mit.edu	37	1	29508253	29508253	+	Silent	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr1:29508253C>T	ENST00000373795.4	-	1	246	c.12G>A	c.(10-12)gtG>gtA	p.V4V	SRSF4_ENST00000546138.1_Silent_p.V4V|SRSF4_ENST00000466448.1_5'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	4	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						GGCCGATGTACACCCGCGGCA	0.701																																						uc001bro.2		NA																	0					0						c.(10-12)GTG>GTA		splicing factor, arginine/serine-rich 4							25.0	30.0	28.0					1																	29508253		2203	4300	6503	SO:0001819	synonymous_variant	6429				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding	g.chr1:29508253C>T	BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10786	protein-coding gene	gene with protein product	"""SR splicing factor 4"""	601940	"""splicing factor, arginine/serine-rich 4"""	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.12G>A	1.37:g.29508253C>T						SFRS4_uc010ofy.1_Silent_p.V4V|SFRS4_uc009vtp.2_RNA	p.V4V	NM_005626	NP_005617	Q08170	SRSF4_HUMAN		Colorectal(126;1.01e-07)|COAD - Colon adenocarcinoma(152;6.21e-06)|STAD - Stomach adenocarcinoma(196;0.0196)|BRCA - Breast invasive adenocarcinoma(304;0.0531)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.138)	1	385	-		Colorectal(325;0.00161)|Breast(348;0.0364)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0529)|Lung NSC(340;0.0654)|all_lung(284;0.074)|Ovarian(437;0.104)|Medulloblastoma(700;0.151)	4			RRM 1.		Q5VXP1|Q9BUA4|Q9UEB5	Silent	SNP	ENST00000373795.4	37	c.12G>A	CCDS333.1																																																																																				0.701	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		5	36	0	0	0	0	5	36				
GRIK3	2899	broad.mit.edu	37	1	37346378	37346378	+	Missense_Mutation	SNP	C	C	T	rs375645657		TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr1:37346378C>T	ENST00000373091.3	-	3	423	c.407G>A	c.(406-408)cGt>cAt	p.R136H	GRIK3_ENST00000373093.4_Missense_Mutation_p.R136H	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	136					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GTGCTTCCAACGCAGCTGGAT	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		21552	0.0		0.0	False		,,,				2504	0.001					uc001caz.2		NA																	0				ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(406-408)CGT>CAT		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)	C	HIS/ARG	0,4406		0,0,2203	238.0	205.0	216.0		407	4.8	1.0	1		216	1,8599	1.2+/-3.3	0,1,4299	no	missense	GRIK3	NM_000831.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	136/920	37346378	1,13005	2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37346378C>T	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.407G>A	1.37:g.37346378C>T	ENSP00000362183:p.Arg136His					GRIK3_uc001cba.1_Missense_Mutation_p.R136H	p.R136H	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			3	542	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	136			Extracellular (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.407G>A	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981106	0.53827	0.0	1.16E-4	ENSG00000163873	ENST00000373091;ENST00000373093	D;D	0.82619	-1.63;-1.63	4.77	4.77	0.60923	Extracellular ligand-binding receptor (1);	0.070115	0.64402	D	0.000014	T	0.82001	0.4942	L	0.61387	1.9	0.52501	D	0.99995	B;B	0.20164	0.042;0.017	B;B	0.19391	0.025;0.025	T	0.78823	-0.2052	10	0.39692	T	0.17	.	18.1519	0.89677	0.0:1.0:0.0:0.0	.	136;136	A9Z1Z8;Q13003	.;GRIK3_HUMAN	H	136	ENSP00000362183:R136H;ENSP00000362185:R136H	ENSP00000362183:R136H	R	-	2	0	GRIK3	37118965	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.518000	0.60510	2.370000	0.80446	0.561000	0.74099	CGT		0.622	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		4	84	0	0	0	0	4	84				
AKNAD1	254268	broad.mit.edu	37	1	109369904	109369904	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr1:109369904T>C	ENST00000370001.3	-	11	2127	c.1859A>G	c.(1858-1860)aAg>aGg	p.K620R	AKNAD1_ENST00000369994.1_Missense_Mutation_p.K590R|AKNAD1_ENST00000357393.4_Missense_Mutation_p.K327R|AKNAD1_ENST00000369995.3_Missense_Mutation_p.K620R	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	620						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCCGTGGCCCTTTTTCTCCAC	0.413																																						uc001dwa.2		NA																	0				ovary(3)	3						c.(1858-1860)AAG>AGG		hypothetical protein LOC254268							183.0	188.0	186.0					1																	109369904		2203	4299	6502	SO:0001583	missense	254268							g.chr1:109369904T>C	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1859A>G	1.37:g.109369904T>C	ENSP00000359018:p.Lys620Arg					AKNAD1_uc010ovb.1_Missense_Mutation_p.K327R|AKNAD1_uc001dwb.2_RNA	p.K620R	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN			11	2128	-			620					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.1859A>G	CCDS791.2	.	.	.	.	.	.	.	.	.	.	T	11.26	1.586061	0.28268	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	4.87	1.29	0.21616	.	1.029790	0.07724	N	0.944149	T	0.06962	0.0177	L	0.36672	1.1	0.09310	N	1	B;B	0.15719	0.014;0.005	B;B	0.12156	0.007;0.004	T	0.40496	-0.9560	10	0.35671	T	0.21	-2.1788	6.0331	0.19690	0.0:0.3909:0.0:0.6091	.	327;620	B4DET8;Q5T1N1	.;AKND1_HUMAN	R	620;327;590;620	ENSP00000359018:K620R;ENSP00000349968:K327R;ENSP00000359011:K590R;ENSP00000359012:K620R	ENSP00000349968:K327R	K	-	2	0	AKNAD1	109171427	0.001000	0.12720	0.001000	0.08648	0.119000	0.20118	0.136000	0.15974	0.125000	0.18397	0.379000	0.24179	AAG		0.413	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		3	185	0	0	0	0	3	185				
FCRL4	83417	broad.mit.edu	37	1	157551405	157551405	+	Missense_Mutation	SNP	C	C	T	rs143188744	byFrequency	TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr1:157551405C>T	ENST00000271532.1	-	7	1300	c.1165G>A	c.(1165-1167)Gcc>Acc	p.A389T	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	389					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A389T(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GCTCCCGCGGCGACAAGGCCA	0.572													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18704	0.0		0.0	False		,,,				2504	0.0					uc001fqw.2		NA																	1	Substitution - Missense(1)		prostate(1)	ovary(2)|kidney(1)|skin(1)	4						c.(1165-1167)GCC>ACC		Fc receptor-like 4 precursor		C	THR/ALA	10,4396	16.8+/-37.8	0,10,2193	45.0	43.0	44.0		1165	-0.8	0.0	1	dbSNP_134	44	0,8600		0,0,4300	yes	missense	FCRL4	NM_031282.2	58	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	benign	389/516	157551405	10,12996	2203	4300	6503	SO:0001583	missense	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157551405C>T	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.1165G>A	1.37:g.157551405C>T	ENSP00000271532:p.Ala389Thr					FCRL4_uc010phy.1_RNA	p.A389T	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN			7	1301	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	389			Helical; (Potential).		Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	c.1165G>A	CCDS1166.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.09	1.253832	0.22965	0.00227	0.0	ENSG00000163518	ENST00000271532	T	0.21734	1.99	4.63	-0.756	0.11057	.	0.894203	0.09252	N	0.827770	T	0.02970	0.0088	N	0.17248	0.465	0.09310	N	1	B	0.21905	0.062	B	0.15870	0.014	T	0.45469	-0.9259	10	0.25106	T	0.35	.	4.5624	0.12166	0.0:0.4681:0.1564:0.3756	.	389	Q96PJ5	FCRL4_HUMAN	T	389	ENSP00000271532:A389T	ENSP00000271532:A389T	A	-	1	0	FCRL4	155818029	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.293000	0.08320	-0.061000	0.13110	-0.444000	0.05651	GCC		0.572	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		5	21	0	0	0	0	5	21				
HMCN1	83872	broad.mit.edu	37	1	186106021	186106021	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr1:186106021C>T	ENST00000271588.4	+	87	13763	c.13534C>T	c.(13534-13536)Cga>Tga	p.R4512*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.R4512*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4512	Ig-like C2-type 44.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.R4512R(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGTGTTGCTCGAAACTTAAT	0.428																																						uc001grq.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(22)|skin(1)	23						c.(13534-13536)CGA>TGA		hemicentin 1 precursor							133.0	131.0	132.0					1																	186106021		2203	4300	6503	SO:0001587	stop_gained	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186106021C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.13534C>T	1.37:g.186106021C>T	ENSP00000271588:p.Arg4512*					HMCN1_uc001grs.1_Nonsense_Mutation_p.R81*	p.R4512*	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			87	13763	+			4512			Ig-like C2-type 44.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	ENST00000271588.4	37	c.13534C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	55	24.469503	0.99960	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.19	4.22	0.49857	.	0.050929	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8062	0.57616	0.2889:0.7111:0.0:0.0	.	.	.	.	X	4512	.	ENSP00000271588:R4512X	R	+	1	2	HMCN1	184372644	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.354000	0.44098	2.587000	0.87381	0.655000	0.94253	CGA		0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		29	71	0	0	0	0	29	71				
DEGS1	8560	broad.mit.edu	37	1	224377307	224377307	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr1:224377307G>A	ENST00000323699.4	+	2	277	c.111G>A	c.(109-111)atG>atA	p.M37I	DEGS1_ENST00000391877.3_Missense_Mutation_p.M37I|DEGS1_ENST00000465848.1_3'UTR	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	37					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		AGTCCTTGATGAAACCTGATC	0.313																																						uc001hoj.2		NA																	0					0						c.(109-111)ATG>ATA		degenerative spermatocyte homolog 1, lipid							62.0	67.0	65.0					1																	224377307		2203	4300	6503	SO:0001583	missense	8560				sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity	g.chr1:224377307G>A	AF002668	CCDS1540.1	1q42.11	2013-09-02	2011-12-09	2004-12-14	ENSG00000143753	ENSG00000143753		"""Fatty acid desaturases"""	13709	protein-coding gene	gene with protein product	"""sphingolipid delta(4)-desaturase 1"", ""dihydroceramide desaturase 1"""	615843	"""degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)"""			9188692, 20105137	Standard	NM_003676		Approved	MLD, Des-1, DES1, FADS7, DEGS-1	uc001hoj.3	O15121	OTTHUMG00000037496	ENST00000323699.4:c.111G>A	1.37:g.224377307G>A	ENSP00000316476:p.Met37Ile					DEGS1_uc001hoi.2_Missense_Mutation_p.M16I	p.M37I	NM_144780	NP_659004	O15121	DEGS1_HUMAN		GBM - Glioblastoma multiforme(131;0.00643)	2	222	+	Breast(184;0.193)		37						Missense_Mutation	SNP	ENST00000323699.4	37	c.111G>A	CCDS1540.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324963	0.81580	.	.	ENSG00000143753	ENST00000415210;ENST00000323699;ENST00000391877	T;T;T	0.48836	0.8;0.8;0.8	5.45	5.45	0.79879	Sphingolipid delta4-desaturase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.69133	0.3077	M	0.72479	2.2	0.80722	D	1	P;D	0.59357	0.898;0.985	P;D	0.72338	0.716;0.977	T	0.67011	-0.5778	10	0.42905	T	0.14	.	19.6609	0.95871	0.0:0.0:1.0:0.0	.	37;16	O15121;E7EMA0	DEGS1_HUMAN;.	I	16;37;37	ENSP00000400545:M16I;ENSP00000316476:M37I;ENSP00000375749:M37I	ENSP00000316476:M37I	M	+	3	0	DEGS1	222443930	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.715000	0.92844	0.549000	0.68633	ATG		0.313	DEGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091285.2			12	63	0	0	0	0	12	63				
OBSCN	84033	broad.mit.edu	37	1	228468013	228468013	+	Silent	SNP	C	C	T	rs556222277	byFrequency	TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr1:228468013C>T	ENST00000422127.1	+	29	7841	c.7797C>T	c.(7795-7797)aaC>aaT	p.N2599N	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.N1446N|OBSCN_ENST00000570156.2_Silent_p.N3028N|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.N2599N	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2599	Ig-like 25.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCTGTACAACGACAGCTTCC	0.627													c|||	2	0.000399361	0.0	0.0	5008	,	,		18236	0.0		0.0	False		,,,				2504	0.002					uc009xez.1		NA																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(7795-7797)AAC>AAT		obscurin, cytoskeletal calmodulin and							49.0	55.0	53.0					1																	228468013		2162	4240	6402	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228468013C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.7797C>T	1.37:g.228468013C>T						OBSCN_uc001hsn.2_Silent_p.N2599N|OBSCN_uc001hsp.1_Silent_p.N298N|OBSCN_uc001hsq.1_5'Flank	p.N2599N	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			29	7841	+		Prostate(94;0.0405)	2599			Ig-like 25.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.7797C>T	CCDS58065.1																																																																																				0.627	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		3	16	0	0	0	0	3	16				
SAR1A	56681	broad.mit.edu	37	10	71921643	71921643	+	Missense_Mutation	SNP	T	T	C	rs200845256		TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr10:71921643T>C	ENST00000373242.2	-	3	225	c.29A>G	c.(28-30)aAt>aGt	p.N10S	SAR1A_ENST00000373241.4_Missense_Mutation_p.N10S|SAR1A_ENST00000431664.2_Missense_Mutation_p.N10S|SAR1A_ENST00000373238.1_Missense_Mutation_p.N10S|SAR1A_ENST00000458634.2_Intron|SAR1A_ENST00000373236.1_Missense_Mutation_p.N10S|SAR1A_ENST00000477464.1_5'UTR	NM_001142648.1	NP_001136120.1	Q9NR31	SAR1A_HUMAN	secretion associated, Ras related GTPase 1A	10					intracellular protein transport (GO:0006886)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						GCTGAAGCCATTGTAGATCCA	0.358																																						uc010qjh.1		NA																	0					0						c.(28-30)AAT>AGT		SAR1a gene homolog 1		T	SER/ASN,SER/ASN	0,4406		0,0,2203	78.0	72.0	74.0		29,29	5.6	1.0	10		74	2,8598	3.0+/-9.4	0,2,4298	yes	missense,missense	SAR1A	NM_001142648.1,NM_020150.4	46,46	0,2,6501	CC,CT,TT		0.0233,0.0,0.0154	benign,benign	10/199,10/199	71921643	2,13004	2203	4300	6503	SO:0001583	missense	56681				ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity	g.chr10:71921643T>C		CCDS7298.1	10q22.1	2014-03-07	2014-03-07	2005-10-21	ENSG00000079332	ENSG00000079332			10534	protein-coding gene	gene with protein product		607691	"""SAR1a gene homolog (S. cerevisiae) 1"", ""SAR1a gene homolog 1 (S. cerevisiae)"", ""SAR1 homolog A (S. cerevisiae)"""	SARA1		10871277	Standard	NM_020150		Approved	SAR1, Sara	uc010qji.2	Q9NR31	OTTHUMG00000018400	ENST00000373242.2:c.29A>G	10.37:g.71921643T>C	ENSP00000362339:p.Asn10Ser					SAR1A_uc010qji.1_Missense_Mutation_p.N10S|SAR1A_uc010qjj.1_Intron	p.N10S	NM_001142648	NP_001136120	Q9NR31	SAR1A_HUMAN			3	232	-			10					B4DQ19	Missense_Mutation	SNP	ENST00000373242.2	37	c.29A>G	CCDS7298.1	.	.	.	.	.	.	.	.	.	.	T	9.265	1.044315	0.19748	0.0	2.33E-4	ENSG00000079332	ENST00000373241;ENST00000373239;ENST00000373238;ENST00000373242;ENST00000431664;ENST00000373236	T;T;T;T;T	0.69040	-0.35;-0.35;-0.35;-0.35;-0.37	5.56	5.56	0.83823	.	0.145764	0.64402	D	0.000009	T	0.42944	0.1225	N	0.03071	-0.42	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35943	-0.9768	10	0.27785	T	0.31	.	14.5404	0.67990	0.0:0.0:0.0:1.0	.	10	Q9NR31	SAR1A_HUMAN	S	10	ENSP00000362338:N10S;ENSP00000362335:N10S;ENSP00000362339:N10S;ENSP00000399698:N10S;ENSP00000362333:N10S	ENSP00000362333:N10S	N	-	2	0	SAR1A	71591649	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.518000	0.45537	2.107000	0.64212	0.528000	0.53228	AAT		0.358	SAR1A-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048500.2			4	31	0	0	0	0	4	31				
EXOC6	54536	broad.mit.edu	37	10	94818062	94818062	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr10:94818062G>A	ENST00000260762.6	+	22	2379	c.2365G>A	c.(2365-2367)Gtc>Atc	p.V789I	EXOC6_ENST00000443748.2_Missense_Mutation_p.V686I|CYP26C1_ENST00000285949.5_5'Flank|RP11-348J12.2_ENST00000444965.1_RNA|EXOC6_ENST00000371547.4_Missense_Mutation_p.V805I|EXOC6_ENST00000371552.4_Missense_Mutation_p.V784I	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	789					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				GATAGAGACAGTCGTGAAACA	0.398																																						uc001kig.2		NA																	0				skin(1)	1						c.(2365-2367)GTC>ATC		SEC15-like 1 isoform a							144.0	132.0	136.0					10																	94818062		2203	4300	6503	SO:0001583	missense	54536				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr10:94818062G>A	BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.2365G>A	10.37:g.94818062G>A	ENSP00000260762:p.Val789Ile					EXOC6_uc010qnr.1_Missense_Mutation_p.V805I|EXOC6_uc001kie.2_Missense_Mutation_p.V784I|EXOC6_uc009xub.2_Missense_Mutation_p.V788I|EXOC6_uc009xuc.2_Missense_Mutation_p.V686I|EXOC6_uc001kih.2_RNA|EXOC6_uc001kii.2_Missense_Mutation_p.V363I|CYP26C1_uc010qns.1_5'Flank|CYP26C1_uc009xud.2_5'Flank	p.V789I	NM_019053	NP_061926	Q8TAG9	EXOC6_HUMAN			22	2431	+		Colorectal(252;0.123)	789					E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	ENST00000260762.6	37	c.2365G>A	CCDS7424.2	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208366	0.58343	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000443748;ENST00000260762	T;T;T;T	0.36520	1.64;1.66;1.25;1.67	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.42404	0.1201	L	0.49778	1.585	0.80722	D	1	B;P;B;B;B;B	0.36990	0.189;0.577;0.189;0.35;0.189;0.189	B;B;B;B;B;B	0.41135	0.134;0.348;0.085;0.134;0.085;0.085	T	0.09228	-1.0684	10	0.36615	T	0.2	-9.5964	20.3854	0.98941	0.0:0.0:1.0:0.0	.	805;686;781;742;789;784	F2Z2Q3;E7EW84;B4DEZ1;B2RDH5;Q8TAG9;E9PHI3	.;.;.;.;EXOC6_HUMAN;.	I	805;784;686;789	ENSP00000360602:V805I;ENSP00000360607:V784I;ENSP00000396206:V686I;ENSP00000260762:V789I	ENSP00000260762:V789I	V	+	1	0	EXOC6	94808052	1.000000	0.71417	0.571000	0.28486	0.836000	0.47400	9.869000	0.99810	2.825000	0.97269	0.655000	0.94253	GTC		0.398	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049410.2	NM_019053		8	43	0	0	0	0	8	43				
PYROXD2	84795	broad.mit.edu	37	10	100148126	100148126	+	Missense_Mutation	SNP	C	C	T	rs367654216		TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr10:100148126C>T	ENST00000370575.4	-	13	1480	c.1432G>A	c.(1432-1434)Gct>Act	p.A478T	PYROXD2_ENST00000483923.1_Intron	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	478							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						TCTGCATAAGCGTCTCTCTCC	0.612																																						uc001kpc.2		NA																	0				central_nervous_system(1)	1						c.(1432-1434)GCT>ACT		pyridine nucleotide-disulphide oxidoreductase		T	THR/ALA	0,4406		0,0,2203	81.0	68.0	73.0		1432	0.2	0.1	10		73	1,8599	1.2+/-3.3	0,1,4299	no	missense	PYROXD2	NM_032709.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	478/582	100148126	1,13005	2203	4300	6503	SO:0001583	missense	84795						oxidoreductase activity	g.chr10:100148126C>T	AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 33"""	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.1432G>A	10.37:g.100148126C>T	ENSP00000359607:p.Ala478Thr					PYROXD2_uc001kpb.2_Intron|PYROXD2_uc001kpd.2_Intron	p.A478T	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN			13	1518	-			478					D3DR61|Q5TAA9|Q9BRQ1	Missense_Mutation	SNP	ENST00000370575.4	37	c.1432G>A	CCDS7474.1	.	.	.	.	.	.	.	.	.	.	c	6.277	0.419128	0.11870	0.0	1.16E-4	ENSG00000119943	ENST00000370575	T	0.21932	1.98	4.18	0.185	0.15096	.	0.726837	0.13864	N	0.357474	T	0.15262	0.0368	L	0.53780	1.695	0.23831	N	0.99672	B	0.16166	0.016	B	0.09377	0.004	T	0.35351	-0.9792	10	0.15952	T	0.53	-0.079	4.8668	0.13613	0.0:0.5077:0.1455:0.3468	.	478	Q8N2H3	PYRD2_HUMAN	T	478	ENSP00000359607:A478T	ENSP00000359607:A478T	A	-	1	0	PYROXD2	100138116	0.000000	0.05858	0.097000	0.21041	0.595000	0.36748	0.155000	0.16362	-0.134000	0.11516	-0.642000	0.03964	GCT		0.612	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	NM_032709		8	26	0	0	0	0	8	26				
DMBT1	1755	broad.mit.edu	37	10	124339094	124339094	+	Splice_Site	SNP	G	G	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr10:124339094G>T	ENST00000338354.3	+	10	786	c.680G>T	c.(679-681)gGa>gTa	p.G227V	DMBT1_ENST00000368909.3_Splice_Site_p.G227V|DMBT1_ENST00000330163.4_Splice_Site_p.G227V|DMBT1_ENST00000368956.2_Splice_Site_p.G227V|DMBT1_ENST00000368955.3_Splice_Site_p.G227V|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Splice_Site_p.G227V			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	227					defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCCCCTGTAGGATCTGAATCC	0.527																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NA																	0				central_nervous_system(7)	7						c.(679-681)GGA>GTA		deleted in malignant brain tumors 1 isoform b							327.0	307.0	313.0					10																	124339094		1973	4160	6133	SO:0001630	splice_region_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124339094G>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.680-1G>T	10.37:g.124339094G>T						DMBT1_uc001lgl.1_Missense_Mutation_p.G227V|DMBT1_uc001lgm.1_Missense_Mutation_p.G227V|DMBT1_uc009xzz.1_Missense_Mutation_p.G227V|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.G79V	p.G227V	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			10	786	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	227					A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.680G>T		.	.	.	.	.	.	.	.	.	.	g	8.781	0.928339	0.18131	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.25250	1.86;1.91;1.81;1.86;1.91;1.81	3.43	-6.39	0.01951	.	.	.	.	.	T	0.19644	0.0472	N	0.08118	0	0.09310	N	1	B;B;B;D;D	0.89917	0.05;0.34;0.313;1.0;0.985	B;B;B;D;P	0.91635	0.008;0.257;0.051;0.999;0.71	T	0.10941	-1.0608	8	.	.	.	.	3.0876	0.06283	0.1209:0.2323:0.5297:0.1171	.	227;227;227;227;227	Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	V	227	ENSP00000342210:G227V;ENSP00000343175:G227V;ENSP00000327747:G227V;ENSP00000357905:G227V;ENSP00000357951:G227V;ENSP00000357952:G227V	.	G	+	2	0	DMBT1	124329084	0.006000	0.16342	0.000000	0.03702	0.063000	0.16089	-0.006000	0.12833	-1.074000	0.03132	0.537000	0.68136	GGA		0.527	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406	Missense_Mutation	39	391	1	0	6.2e-25	7.1e-25	39	391				
DBX1	120237	broad.mit.edu	37	11	20177857	20177857	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr11:20177857G>A	ENST00000524983.2	-	4	1223	c.935C>T	c.(934-936)tCg>tTg	p.S312L	DBX1_ENST00000227256.3_Missense_Mutation_p.S351L			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	312					regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GTGCGCGGGCGAGGGGGGCAG	0.701																																						uc001mpw.1		NA																	0				ovary(1)	1						c.(1051-1053)TCG>TTG		developing brain homeobox 1							30.0	38.0	35.0					11																	20177857		2200	4297	6497	SO:0001583	missense	120237				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:20177857G>A			11p15.1	2011-06-20				ENSG00000109851		"""Homeoboxes / ANTP class : NKL subclass"""	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.935C>T	11.37:g.20177857G>A	ENSP00000436881:p.Ser312Leu						p.S351L	NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN			4	1052	-			312						Missense_Mutation	SNP	ENST00000524983.2	37	c.1052C>T		.	.	.	.	.	.	.	.	.	.	G	32	5.122348	0.94429	.	.	ENSG00000109851	ENST00000524983;ENST00000227256	D;T	0.91631	-2.88;-0.0	5.33	5.33	0.75918	.	0.229108	0.36778	N	0.002410	D	0.93115	0.7808	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.67900	0.954	D	0.94030	0.7300	10	0.62326	D	0.03	-23.302	18.6331	0.91368	0.0:0.0:1.0:0.0	.	351	F8W811	.	L	312;351	ENSP00000436881:S312L;ENSP00000227256:S351L	ENSP00000227256:S351L	S	-	2	0	DBX1	20134433	1.000000	0.71417	0.937000	0.37676	0.519000	0.34347	8.647000	0.91057	2.491000	0.84063	0.655000	0.94253	TCG		0.701	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387585.2	NM_001029865		10	68	0	0	0	0	10	68				
HIPK3	10114	broad.mit.edu	37	11	33308667	33308667	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr11:33308667G>A	ENST00000303296.4	+	2	1012	c.707G>A	c.(706-708)cGt>cAt	p.R236H	HIPK3_ENST00000456517.1_Missense_Mutation_p.R236H|HIPK3_ENST00000379016.3_Missense_Mutation_p.R236H|HIPK3_ENST00000525975.1_Missense_Mutation_p.R236H	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	236	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TCTTATGCCCGTCAAGGTCAA	0.398																																						uc001mul.1		NA																	0				large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						c.(706-708)CGT>CAT		homeodomain interacting protein kinase 3 isoform							58.0	59.0	59.0					11																	33308667		2202	4297	6499	SO:0001583	missense	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33308667G>A	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.707G>A	11.37:g.33308667G>A	ENSP00000304226:p.Arg236His					HIPK3_uc001mum.1_Missense_Mutation_p.R236H|HIPK3_uc009yjv.1_Missense_Mutation_p.R236H	p.R236H	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN			2	977	+			236			Protein kinase.		O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	37	c.707G>A	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533601	0.85812	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	T	0.67420	0.2891	N	0.25647	0.755	0.80722	D	1	D;D	0.57257	0.968;0.979	P;P	0.58172	0.669;0.834	T	0.70828	-0.4766	10	0.87932	D	0	.	19.7253	0.96161	0.0:0.0:1.0:0.0	.	236;236	Q9H422-2;Q9H422	.;HIPK3_HUMAN	H	236	ENSP00000431710:R236H;ENSP00000304226:R236H;ENSP00000368301:R236H;ENSP00000398241:R236H	ENSP00000304226:R236H	R	+	2	0	HIPK3	33265243	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.869000	0.99810	2.673000	0.90976	0.585000	0.79938	CGT		0.398	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		3	32	0	0	0	0	3	32				
MRPL21	219927	broad.mit.edu	37	11	68658835	68658835	+	Silent	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr11:68658835C>T	ENST00000362034.2	-	7	591	c.582G>A	c.(580-582)cgG>cgA	p.R194R	MRPL21_ENST00000450904.2_Silent_p.R109R	NM_181514.1|NM_181515.1	NP_852615.1|NP_852616.1	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	194					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGCTGTTTATCCGGAGGACAG	0.473																																						uc001ooi.2		NA																	0					0						c.(580-582)CGG>CGA		mitochondrial ribosomal protein L21 isoform d							200.0	198.0	198.0					11																	68658835		2200	4294	6494	SO:0001819	synonymous_variant	219927				translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome	g.chr11:68658835C>T	AK096756	CCDS8186.1, CCDS44662.1	11q13.3	2012-09-13			ENSG00000197345	ENSG00000197345		"""Mitochondrial ribosomal proteins / large subunits"""	14479	protein-coding gene	gene with protein product		611834				11551941	Standard	NM_181514		Approved		uc001ooi.3	Q7Z2W9	OTTHUMG00000167893	ENST00000362034.2:c.582G>A	11.37:g.68658835C>T						MRPL21_uc001ooh.2_Silent_p.R109R	p.R194R	NM_181514	NP_852615	Q7Z2W9	RM21_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		7	607	-			194					A6NKU0|C9JPR2	Silent	SNP	ENST00000362034.2	37	c.582G>A	CCDS8186.1																																																																																				0.473	MRPL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396856.1	NM_181512		12	235	0	0	0	0	12	235				
GAB2	9846	broad.mit.edu	37	11	77991788	77991788	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr11:77991788C>G	ENST00000361507.4	-	2	320	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	GAB2_ENST00000340149.2_Missense_Mutation_p.E41Q|GAB2_ENST00000526030.1_5'UTR	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	79	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TCCTGCAGCTCCTTCTTGTTA	0.473																																						uc001ozh.2		NA																	0				ovary(5)|lung(1)	6						c.(235-237)GAG>CAG		GRB2-associated binding protein 2 isoform a							170.0	147.0	155.0					11																	77991788		2200	4292	6492	SO:0001583	missense	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77991788C>G	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.235G>C	11.37:g.77991788C>G	ENSP00000354952:p.Glu79Gln					GAB2_uc001ozg.2_Missense_Mutation_p.E41Q	p.E79Q	NM_080491	NP_536739	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		2	235	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		79			PH.		A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	ENST00000361507.4	37	c.235G>C	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508710	0.85282	.	.	ENSG00000033327	ENST00000340149;ENST00000361507;ENST00000528886;ENST00000530915	T;T;T;T	0.79845	-1.31;-0.77;-1.31;-0.77	5.37	5.37	0.77165	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	U	0.000001	D	0.87430	0.6175	L	0.46947	1.48	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87713	0.2568	10	0.62326	D	0.03	-16.3952	19.4818	0.95013	0.0:1.0:0.0:0.0	.	79	Q9UQC2	GAB2_HUMAN	Q	41;79;41;41	ENSP00000343959:E41Q;ENSP00000354952:E79Q;ENSP00000433762:E41Q;ENSP00000431868:E41Q	ENSP00000343959:E41Q	E	-	1	0	GAB2	77669436	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.667000	0.90743	0.563000	0.77884	GAG		0.473	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		19	136	0	0	0	0	19	136				
ST14	6768	broad.mit.edu	37	11	130078332	130078332	+	Silent	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr11:130078332C>T	ENST00000278742.5	+	17	2440	c.2022C>T	c.(2020-2022)gcC>gcT	p.A674A		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	674	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.			A -> V (in Ref. 3; BAB20376). {ECO:0000305}.	keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	AGTGGACGGCCTTCCTGGGCT	0.662																																						uc001qfw.2		NA																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(2020-2022)GCC>GCT		matriptase	Urokinase(DB00013)						52.0	52.0	52.0					11																	130078332		2201	4297	6498	SO:0001819	synonymous_variant	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130078332C>T	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.2022C>T	11.37:g.130078332C>T							p.A674A	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	17	2215	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	674	A -> V (in Ref. 3; BAB20376).		Extracellular (Potential).|Peptidase S1.		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Silent	SNP	ENST00000278742.5	37	c.2022C>T	CCDS8487.1																																																																																				0.662	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			12	36	0	0	0	0	12	36				
TENC1	23371	broad.mit.edu	37	12	53447568	53447568	+	Missense_Mutation	SNP	C	C	A	rs199876788	byFrequency	TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr12:53447568C>A	ENST00000314250.6	+	5	562	c.272C>A	c.(271-273)aCg>aAg	p.T91K	TENC1_ENST00000549700.1_Missense_Mutation_p.T91K|TENC1_ENST00000314276.3_Missense_Mutation_p.T101K|TENC1_ENST00000546602.1_Missense_Mutation_p.T91K|RP11-983P16.4_ENST00000551890.1_RNA|TENC1_ENST00000552570.1_Missense_Mutation_p.T91K|TENC1_ENST00000451358.1_Missense_Mutation_p.T91K|RP11-983P16.4_ENST00000550601.1_RNA|TENC1_ENST00000379902.3_5'UTR|RP11-983P16.4_ENST00000546793.1_RNA	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	91					cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CGGCGAAACACGGCCCCAGTC	0.567											OREG0021855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sbp.2		NA																	0				ovary(1)|pancreas(1)	2						c.(271-273)ACG>AAG		tensin like C1 domain containing phosphatase							87.0	73.0	78.0					12																	53447568		2203	4300	6503	SO:0001583	missense	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53447568C>A	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.272C>A	12.37:g.53447568C>A	ENSP00000319684:p.Thr91Lys		OREG0021855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	992	uc001sbk.1_Intron|TENC1_uc001sbl.2_5'UTR|TENC1_uc001sbm.2_Missense_Mutation_p.T101K|TENC1_uc001sbn.2_Missense_Mutation_p.T101K|TENC1_uc001sbo.1_Missense_Mutation_p.T91K	p.T91K	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN			5	407	+			91					A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	c.272C>A	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959772	0.74016	.	.	ENSG00000111077	ENST00000314276;ENST00000314250;ENST00000451358;ENST00000443113;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D;D	0.94376	-3.38;-3.38;-3.4;-3.4;-3.38;-3.41	3.77	3.77	0.43336	.	0.507764	0.16070	N	0.231053	D	0.93086	0.7799	L	0.29908	0.895	0.39781	D	0.972302	D;B;D;D	0.89917	0.993;0.22;1.0;0.997	D;B;D;D	0.87578	0.972;0.118;0.998;0.987	D	0.89862	0.4017	10	0.20519	T	0.43	.	11.3061	0.49336	0.0:1.0:0.0:0.0	.	91;91;101;68	Q63HR2;F8W661;Q63HR2-4;Q6ZMJ1	TENC1_HUMAN;.;.;.	K	101;91;91;91;91;91;91	ENSP00000319756:T101K;ENSP00000319684:T91K;ENSP00000393362:T91K;ENSP00000449363:T91K;ENSP00000447021:T91K;ENSP00000449361:T91K	ENSP00000319684:T91K	T	+	2	0	TENC1	51733835	0.987000	0.35691	0.996000	0.52242	0.733000	0.41908	2.989000	0.49393	2.131000	0.65755	0.561000	0.74099	ACG		0.567	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		11	35	1	0	0.000978159	0.00106141	11	35				
STAB2	55576	broad.mit.edu	37	12	104089380	104089380	+	Missense_Mutation	SNP	G	G	C	rs182960938		TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr12:104089380G>C	ENST00000388887.2	+	32	3632	c.3428G>C	c.(3427-3429)cGg>cCg	p.R1143P		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTGCTCATGCGGCTGGAACAG	0.502																																						uc001tjw.2		NA																	0				ovary(9)|skin(5)	14						c.(3427-3429)CGG>CCG		stabilin 2 precursor							146.0	143.0	144.0					12																	104089380		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104089380G>C	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.3428G>C	12.37:g.104089380G>C	ENSP00000373539:p.Arg1143Pro						p.R1143P	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			32	3614	+			1143			Extracellular (Potential).|FAS1 4.			Missense_Mutation	SNP	ENST00000388887.2	37	c.3428G>C	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416498	0.83449	.	.	ENSG00000136011	ENST00000388887	T	0.63580	-0.05	6.17	6.17	0.99709	FAS1 domain (3);Growth factor, receptor (1);	0.146062	0.46145	D	0.000303	T	0.77116	0.4083	L	0.60455	1.87	0.46564	D	0.999103	D	0.89917	1.0	D	0.87578	0.998	T	0.68507	-0.5390	10	0.22109	T	0.4	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1143	Q8WWQ8	STAB2_HUMAN	P	1143	ENSP00000373539:R1143P	ENSP00000373539:R1143P	R	+	2	0	STAB2	102613510	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	5.479000	0.66813	2.941000	0.99782	0.655000	0.94253	CGG		0.502	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			28	99	0	0	0	0	28	99				
ATP8A2	51761	broad.mit.edu	37	13	26343230	26343230	+	Missense_Mutation	SNP	C	C	T	rs560280973		TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr13:26343230C>T	ENST00000381655.2	+	26	2573	c.2431C>T	c.(2431-2433)Cgg>Tgg	p.R811W	ATP8A2_ENST00000255283.8_Missense_Mutation_p.R771W|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	771					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R811R(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GGTGAAGAAGCGGGTGAAGGC	0.537													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19436	0.0		0.0	False		,,,				2504	0.0					uc001uqk.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(2431-2433)CGG>TGG		ATPase, aminophospholipid transporter-like,							78.0	82.0	81.0					13																	26343230		2036	4185	6221	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26343230C>T	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2431C>T	13.37:g.26343230C>T	ENSP00000371070:p.Arg811Trp					ATP8A2_uc010tdi.1_Missense_Mutation_p.R771W|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.R361W	p.R811W	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	26	2573	+		Breast(139;0.0201)|Lung SC(185;0.0225)	771			Cytoplasmic (Potential).		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.2431C>T	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364637	0.82463	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	D;D	0.83075	-1.68;-1.68	6.17	2.41	0.29592	HAD-like domain (2);	0.537031	0.18958	N	0.126491	D	0.83225	0.5208	L	0.42245	1.32	0.37734	D	0.925382	B;B;D	0.54601	0.018;0.012;0.967	B;B;P	0.56788	0.004;0.002;0.806	T	0.80903	-0.1174	10	0.44086	T	0.13	.	9.8847	0.41255	0.3586:0.5799:0.0:0.0614	.	771;591;771	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	W	811;771;591	ENSP00000371070:R811W;ENSP00000255283:R771W	ENSP00000255283:R771W	R	+	1	2	ATP8A2	25241230	1.000000	0.71417	0.763000	0.31416	0.995000	0.86356	4.592000	0.61027	0.135000	0.18707	-0.181000	0.13052	CGG		0.537	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		22	62	0	0	0	0	22	62				
CCNA1	8900	broad.mit.edu	37	13	37011811	37011811	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr13:37011811C>G	ENST00000255465.4	+	3	607	c.343C>G	c.(343-345)Cct>Gct	p.P115A	CCNA1_ENST00000418263.1_Missense_Mutation_p.P114A|CCNA1_ENST00000440264.1_Missense_Mutation_p.P71A|CCNA1_ENST00000449823.1_Missense_Mutation_p.P71A|CCNA1_ENST00000463403.1_3'UTR			P78396	CCNA1_HUMAN	cyclin A1	115					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		AAATGCCTTCCCTCCAGCTGG	0.478																																						uc001uvr.3		NA																	0				lung(2)|skin(2)|ovary(1)	5						c.(343-345)CCT>GCT		cyclin A1 isoform a							100.0	108.0	105.0					13																	37011811		2203	4300	6503	SO:0001583	missense	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37011811C>G	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.343C>G	13.37:g.37011811C>G	ENSP00000255465:p.Pro115Ala					CCNA1_uc010teo.1_Missense_Mutation_p.P71A|CCNA1_uc010abq.2_Missense_Mutation_p.P71A|CCNA1_uc010abp.2_Missense_Mutation_p.P71A|CCNA1_uc001uvs.3_Missense_Mutation_p.P114A|CCNA1_uc010abr.2_RNA	p.P115A	NM_003914	NP_003905	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	3	693	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	115					B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	ENST00000255465.4	37	c.343C>G	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.977060	0.53720	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.19250	2.28;2.28;2.16;2.17	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.29126	0.0724	M	0.66939	2.045	0.48696	D	0.999698	B;B	0.29188	0.236;0.07	B;B	0.30943	0.122;0.057	T	0.02975	-1.1087	10	0.33940	T	0.23	.	19.6533	0.95827	0.0:1.0:0.0:0.0	.	114;115	P78396-2;P78396	.;CCNA1_HUMAN	A	71;71;114;115	ENSP00000400666:P71A;ENSP00000409873:P71A;ENSP00000396479:P114A;ENSP00000255465:P115A	ENSP00000255465:P115A	P	+	1	0	CCNA1	35909811	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	3.497000	0.53295	2.641000	0.89580	0.455000	0.32223	CCT		0.478	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		6	92	0	0	0	0	6	92				
GALNT16	57452	broad.mit.edu	37	14	69787431	69787431	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr14:69787431A>T	ENST00000337827.4	+	2	508	c.181A>T	c.(181-183)Aca>Tca	p.T61S	GALNT16_ENST00000553669.1_Missense_Mutation_p.T61S|GALNT16_ENST00000448469.3_Missense_Mutation_p.T61S	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	61					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										ATCTCAGGTGACAGGAACTCC	0.607																																						uc010aqu.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(181-183)ACA>TCA		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							99.0	99.0	99.0					14																	69787431		2203	4300	6503	SO:0001583	missense	57452					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr14:69787431A>T	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.181A>T	14.37:g.69787431A>T	ENSP00000336729:p.Thr61Ser					GALNTL1_uc001xla.1_Missense_Mutation_p.T61S|GALNTL1_uc001xlb.1_Missense_Mutation_p.T61S	p.T61S	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN		all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)	2	274	+			61			Lumenal (Potential).		Q4KMG3|Q58A55|Q9ULT9	Missense_Mutation	SNP	ENST00000337827.4	37	c.181A>T	CCDS32107.1	.	.	.	.	.	.	.	.	.	.	A	12.35	1.911310	0.33721	.	.	ENSG00000100626	ENST00000337827;ENST00000448469;ENST00000553669	T;T;T	0.54675	0.68;0.68;0.56	5.62	5.62	0.85841	.	1.007420	0.07966	N	0.983255	T	0.44932	0.1317	L	0.46157	1.445	0.50039	D	0.999844	B;B	0.19445	0.01;0.036	B;B	0.15052	0.009;0.012	T	0.22208	-1.0223	10	0.08179	T	0.78	.	10.3137	0.43723	0.8535:0.0:0.0:0.1465	.	61;61	Q8N428;Q58A55	GLTL1_HUMAN;.	S	61	ENSP00000336729:T61S;ENSP00000402970:T61S;ENSP00000451200:T61S	ENSP00000336729:T61S	T	+	1	0	GALNTL1	68857184	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.901000	0.56303	2.149000	0.67028	0.528000	0.53228	ACA		0.607	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		7	86	0	0	0	0	7	86				
SYNJ2BP	55333	broad.mit.edu	37	14	70842394	70842394	+	Splice_Site	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr14:70842394C>T	ENST00000256366.4	-	3	377	c.296G>A	c.(295-297)aGg>aAg	p.R99K	SYNJ2BP-COX16_ENST00000555276.1_RNA|SYNJ2BP_ENST00000554216.1_5'UTR	NM_018373.2	NP_060843.2	P57105	SYJ2B_HUMAN	synaptojanin 2 binding protein	99	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				intracellular distribution of mitochondria (GO:0048312)|negative regulation of activin receptor signaling pathway (GO:0032926)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of receptor internalization (GO:0002092)	cell surface (GO:0009986)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrion (GO:0005739)				central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)		GATACCTACCCTGTGCTGCAC	0.463																																						uc001xmc.3		NA																	0					0						c.(295-297)AGG>AAG		synaptojanin 2 binding protein							196.0	177.0	183.0					14																	70842394		2203	4300	6503	SO:0001630	splice_region_variant	55333					integral to membrane|mitochondrial outer membrane		g.chr14:70842394C>T	AK002133	CCDS9803.1	14q24.2	2013-05-10			ENSG00000213463	ENSG00000213463			18955	protein-coding gene	gene with protein product	"""activin receptor interacting protein 5"""	609411				11882656	Standard	NM_018373		Approved	Arip2		P57105	OTTHUMG00000171240	ENST00000256366.4:c.297+1G>A	14.37:g.70842394C>T						SYNJ2BP_uc010arc.2_RNA	p.R99K	NM_018373	NP_060843	P57105	SYJ2B_HUMAN		all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)	3	423	-			99			PDZ.|Cytoplasmic (Potential).		Q49SH3|Q96IA4	Missense_Mutation	SNP	ENST00000256366.4	37	c.296G>A	CCDS9803.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.367536	0.42003	.	.	ENSG00000213463	ENST00000256366	T	0.38560	1.13	5.85	4.95	0.65309	PDZ/DHR/GLGF (3);	0.077307	0.56097	D	0.000033	T	0.25158	0.0611	N	0.12887	0.27	0.41847	D	0.990151	B	0.12013	0.005	B	0.10450	0.005	T	0.04961	-1.0915	10	0.33940	T	0.23	-18.6115	11.8794	0.52566	0.0:0.9187:0.0:0.0813	.	99	P57105	SYJ2B_HUMAN	K	99	ENSP00000256366:R99K	ENSP00000256366:R99K	R	-	2	0	SYNJ2BP	69912147	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	1.997000	0.40786	2.941000	0.99782	0.655000	0.94253	AGG		0.463	SYNJ2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412472.1	NM_018373	Missense_Mutation	22	112	0	0	0	0	22	112				
TC2N	123036	broad.mit.edu	37	14	92258736	92258736	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr14:92258736T>A	ENST00000435962.2	-	9	1345	c.1022A>T	c.(1021-1023)gAt>gTt	p.D341V	TC2N_ENST00000556018.1_Intron|TC2N_ENST00000340892.5_Missense_Mutation_p.D341V|TC2N_ENST00000360594.5_Missense_Mutation_p.D341V	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	341					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TGGTGTTATATCCAAAGAGTA	0.363																																						uc001xzu.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(1021-1023)GAT>GTT		tandem C2 domains, nuclear							164.0	161.0	162.0					14																	92258736		2203	4300	6503	SO:0001583	missense	123036					nucleus		g.chr14:92258736T>A	AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"""C2 calcium-dependent domain containing 1"""		"""chromosome 14 open reading frame 47"", ""membrane targeting (tandem) C2 domain containing 1"""	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.1022A>T	14.37:g.92258736T>A	ENSP00000387882:p.Asp341Val					TC2N_uc001xzt.3_Missense_Mutation_p.D341V|TC2N_uc010auc.2_Intron|TC2N_uc001xzv.3_Missense_Mutation_p.D341V	p.D341V	NM_001128595	NP_001122067	Q8N9U0	TAC2N_HUMAN		COAD - Colon adenocarcinoma(157;0.218)	9	1213	-			341						Missense_Mutation	SNP	ENST00000435962.2	37	c.1022A>T	CCDS9897.1	.	.	.	.	.	.	.	.	.	.	T	14.22	2.471078	0.43942	.	.	ENSG00000165929	ENST00000435962;ENST00000340892;ENST00000360594;ENST00000556590	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.46	5.46	0.80206	C2 calcium/lipid-binding domain, CaLB (1);	0.291997	0.40222	N	0.001141	T	0.65688	0.2715	N	0.24115	0.695	0.80722	D	1	B	0.20671	0.047	B	0.21708	0.036	T	0.63457	-0.6633	10	0.49607	T	0.09	-11.7163	11.3203	0.49417	0.1361:0.0:0.0:0.8639	.	341	Q8N9U0	TAC2N_HUMAN	V	341;341;341;93	ENSP00000387882:D341V;ENSP00000343199:D341V;ENSP00000353802:D341V;ENSP00000450922:D93V	ENSP00000343199:D341V	D	-	2	0	TC2N	91328489	1.000000	0.71417	0.990000	0.47175	0.965000	0.64279	4.660000	0.61511	2.056000	0.61249	0.455000	0.32223	GAT		0.363	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411778.1	NM_152332		22	69	0	0	0	0	22	69				
CHGA	1113	broad.mit.edu	37	14	93397703	93397703	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr14:93397703C>A	ENST00000216492.5	+	6	744	c.464C>A	c.(463-465)cCg>cAg	p.P155Q	CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	155					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		CAGGCCCTCCCGGAGCCCATG	0.607																																					Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	uc001ybc.3		NA																	0				skin(2)	2						c.(463-465)CCG>CAG		chromogranin A precursor							26.0	32.0	30.0					14																	93397703		2203	4300	6503	SO:0001583	missense	1113				regulation of blood pressure	extracellular region|stored secretory granule		g.chr14:93397703C>A		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"""vasostatin"", ""pancreastatin"", ""parastatin"""	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.464C>A	14.37:g.93397703C>A	ENSP00000216492:p.Pro155Gln					CHGA_uc010aum.2_RNA|CHGA_uc001ybd.3_Intron	p.P155Q	NM_001275	NP_001266	P10645	CMGA_HUMAN		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)	6	724	+		all_cancers(154;0.0843)	155					B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Missense_Mutation	SNP	ENST00000216492.5	37	c.464C>A	CCDS9906.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805187	0.31961	.	.	ENSG00000100604	ENST00000216492	T	0.03124	4.04	4.94	-1.65	0.08291	.	0.901165	0.09739	N	0.762092	T	0.02083	0.0065	N	0.17474	0.49	0.09310	N	0.999999	B	0.28760	0.221	B	0.29862	0.108	T	0.47749	-0.9093	10	0.25751	T	0.34	-0.0355	1.781	0.03031	0.1323:0.413:0.1296:0.3252	.	155	P10645	CMGA_HUMAN	Q	155	ENSP00000216492:P155Q	ENSP00000216492:P155Q	P	+	2	0	CHGA	92467456	0.000000	0.05858	0.000000	0.03702	0.606000	0.37113	-0.806000	0.04525	-0.270000	0.09285	0.555000	0.69702	CCG		0.607	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275		3	36	1	0	0.004672	0.00501625	3	36				
NDNL2	56160	broad.mit.edu	37	15	29561416	29561416	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr15:29561416G>A	ENST00000332303.4	-	1	617	c.494C>T	c.(493-495)gCc>gTc	p.A165V	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	165	Interaction with NSMCE1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CCTCATCTCGGCATCCTCCTC	0.547																																						uc001zco.2		NA																	0					0						c.(493-495)GCC>GTC		necdin-like 2							65.0	61.0	62.0					15																	29561416		2203	4300	6503	SO:0001583	missense	56160				regulation of growth	cytoplasm|nucleus		g.chr15:29561416G>A	AF490510	CCDS10023.1	15q13.1	2008-02-01			ENSG00000185115	ENSG00000185115			7677	protein-coding gene	gene with protein product		608243				18086888	Standard	NM_138704		Approved	HCA4, MAGEG1, MAGEL3, NSE3, NSMCE3	uc001zco.3	Q96MG7	OTTHUMG00000129261	ENST00000332303.4:c.494C>T	15.37:g.29561416G>A	ENSP00000330694:p.Ala165Val					FAM189A1_uc010azk.1_Intron	p.A165V	NM_138704	NP_619649	Q96MG7	MAGG1_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	602	-		all_lung(180;4.69e-11)|Breast(32;0.0013)	165			MAGE.		Q8IW16|Q8TEI6|Q9H214	Missense_Mutation	SNP	ENST00000332303.4	37	c.494C>T	CCDS10023.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567802	0.65651	.	.	ENSG00000185115	ENST00000332303	T	0.05081	3.5	4.21	4.21	0.49690	.	0.464950	0.18842	U	0.129657	T	0.08044	0.0201	L	0.43152	1.355	0.37519	D	0.917472	B	0.18166	0.026	B	0.25759	0.063	T	0.10543	-1.0625	10	0.59425	D	0.04	.	12.3812	0.55307	0.0:0.0:1.0:0.0	.	165	Q96MG7	MAGG1_HUMAN	V	165	ENSP00000330694:A165V	ENSP00000330694:A165V	A	-	2	0	NDNL2	27348708	0.782000	0.28689	0.684000	0.30055	0.888000	0.51559	1.825000	0.39081	2.622000	0.88805	0.563000	0.77884	GCC		0.547	NDNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251370.1	NM_138704		4	111	0	0	0	0	4	111				
EIF2AK4	440275	broad.mit.edu	37	15	40293317	40293317	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr15:40293317C>A	ENST00000263791.5	+	21	3094	c.3051C>A	c.(3049-3051)caC>caA	p.H1017Q	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.H989Q	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1017					cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TGCTGCACCACACGCTGACCA	0.587																																						uc001zkm.1		NA																	0				lung(2)|stomach(1)|skin(1)	4						c.(3049-3051)CAC>CAA		eukaryotic translation initiation factor 2 alpha							68.0	70.0	69.0					15																	40293317		2203	4298	6501	SO:0001583	missense	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40293317C>A	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.3051C>A	15.37:g.40293317C>A	ENSP00000263791:p.His1017Gln					EIF2AK4_uc010bbj.1_Missense_Mutation_p.H718Q|EIF2AK4_uc001zkn.1_Missense_Mutation_p.H117Q|EIF2AK4_uc001zko.1_5'Flank	p.H1017Q	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	21	3101	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	1017					C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	c.3051C>A	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.639781	0.87760	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.23552	1.9;1.9	5.82	5.82	0.92795	.	0.150856	0.64402	D	0.000012	T	0.44435	0.1293	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.05419	-1.0886	10	0.27785	T	0.31	-9.2184	15.2114	0.73227	0.0:0.9311:0.0:0.0689	.	1017	Q9P2K8	E2AK4_HUMAN	Q	1017;989	ENSP00000263791:H1017Q;ENSP00000372174:H989Q	ENSP00000263791:H1017Q	H	+	3	2	EIF2AK4	38080609	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.104000	0.41815	2.759000	0.94783	0.650000	0.86243	CAC		0.587	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			6	39	1	0	3.6e-05	3.93e-05	6	39				
IRX5	10265	broad.mit.edu	37	16	54966559	54966559	+	Silent	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr16:54966559C>T	ENST00000394636.4	+	2	736	c.399C>T	c.(397-399)aaC>aaT	p.N133N	CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000320990.5_Silent_p.N133N|IRX5_ENST00000558597.1_Silent_p.N67N|IRX5_ENST00000560154.1_Intron			P78411	IRX5_HUMAN	iroquois homeobox 5	133					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CCTGGCTCAACGAGCACCGCA	0.627																																						uc002ehv.2		NA																	0					0						c.(397-399)AAC>AAT		iroquois homeobox protein 5							138.0	109.0	119.0					16																	54966559		2198	4300	6498	SO:0001819	synonymous_variant	10265				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	g.chr16:54966559C>T	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.399C>T	16.37:g.54966559C>T						IRX5_uc010cca.1_Silent_p.N185N|IRX5_uc002ehw.2_Silent_p.N67N	p.N133N	NM_005853	NP_005844	P78411	IRX5_HUMAN			2	399	+			133			Homeobox; TALE-type.		H0YMS7|P78416|Q7Z2E1	Silent	SNP	ENST00000394636.4	37	c.399C>T	CCDS10751.1																																																																																				0.627	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2			18	88	0	0	0	0	18	88				
ENKD1	84080	broad.mit.edu	37	16	67700077	67700077	+	Silent	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr16:67700077G>A	ENST00000243878.4	-	2	498	c.177C>T	c.(175-177)atC>atT	p.I59I	ENKD1_ENST00000602644.1_Silent_p.I59I|C16orf86_ENST00000403458.4_5'Flank|ENKD1_ENST00000602409.1_5'Flank	NM_032140.1	NP_115516.1	Q9H0I2	ENKD1_HUMAN	enkurin domain containing 1	59						cytoplasmic microtubule (GO:0005881)|microtubule cytoskeleton (GO:0015630)											CACCGGGACCGATGCAGGGGC	0.697																																						uc002etw.1		NA																	0					0						c.(175-177)ATC>ATT		hypothetical protein LOC84080							27.0	31.0	30.0					16																	67700077		2190	4285	6475	SO:0001819	synonymous_variant	84080					microtubule cytoskeleton	protein binding	g.chr16:67700077G>A	BC008284	CCDS10844.1	16q22.1	2012-10-09	2012-10-09	2012-10-09	ENSG00000124074	ENSG00000124074			25246	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 48"""	C16orf48		11230166	Standard	NM_032140		Approved	DKFZP434A1319	uc002etw.1	Q9H0I2	OTTHUMG00000137550	ENST00000243878.4:c.177C>T	16.37:g.67700077G>A						C16orf48_uc002etv.1_5'Flank|C16orf48_uc010cem.1_Silent_p.I59I|C16orf86_uc002etx.1_5'Flank|C16orf86_uc002ety.2_5'Flank|C16orf86_uc002etz.2_5'Flank	p.I59I	NM_032140	NP_115516	Q9H0I2	CP048_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	2	460	-		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	59					Q6UWD7	Silent	SNP	ENST00000243878.4	37	c.177C>T	CCDS10844.1																																																																																				0.697	ENKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268884.1	NM_032140		5	59	0	0	0	0	5	59				
ZFPM1	161882	broad.mit.edu	37	16	88601287	88601287	+	Missense_Mutation	SNP	G	G	C	rs528728643		TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr16:88601287G>C	ENST00000319555.3	+	10	3243	c.2921G>C	c.(2920-2922)cGg>cCg	p.R974P		NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	974					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GGCAACCACCGGTACTGCCGT	0.662																																					Pancreas(49;850 1106 29641 32847 38344)	uc002fkv.2		NA																	0				central_nervous_system(1)	1						c.(2920-2922)CGG>CCG		zinc finger protein, multitype 1							37.0	44.0	42.0					16																	88601287		2196	4289	6485	SO:0001583	missense	161882				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding	g.chr16:88601287G>C	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.2921G>C	16.37:g.88601287G>C	ENSP00000326630:p.Arg974Pro						p.R974P	NM_153813	NP_722520	Q8IX07	FOG1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	10	2954	+			974			C2HC-type 5.			Missense_Mutation	SNP	ENST00000319555.3	37	c.2921G>C	CCDS32502.1	.	.	.	.	.	.	.	.	.	.	g	15.13	2.742849	0.49151	.	.	ENSG00000179588	ENST00000319555	T	0.32272	1.46	3.79	3.79	0.43588	Zinc finger, C2H2-like (1);	0.000000	0.85682	U	0.000000	T	0.53465	0.1798	M	0.71036	2.16	0.50039	D	0.999841	D	0.89917	1.0	D	0.81914	0.995	T	0.60100	-0.7329	10	0.72032	D	0.01	-18.8563	14.2995	0.66336	0.0:0.0:1.0:0.0	.	974	Q8IX07	FOG1_HUMAN	P	974	ENSP00000326630:R974P	ENSP00000326630:R974P	R	+	2	0	ZFPM1	87128788	0.858000	0.29795	0.977000	0.42913	0.075000	0.17131	3.206000	0.51098	1.690000	0.51089	0.552000	0.68991	CGG		0.662	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			7	40	0	0	0	0	7	40				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)CGG>CAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	p.R248Q	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	937	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	63	0	0	0	0	15	63				
DNAH2	146754	broad.mit.edu	37	17	7734412	7734412	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr17:7734412C>G	ENST00000572933.1	+	80	13699	c.12239C>G	c.(12238-12240)gCa>gGa	p.A4080G	DNAH2_ENST00000389173.2_Missense_Mutation_p.A4080G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4080					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGGTTGTCAGCACTGGAGACT	0.517																																						uc002giu.1		NA																	0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(12238-12240)GCA>GGA		dynein heavy chain domain 3							228.0	226.0	227.0					17																	7734412		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7734412C>G	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.12239C>G	17.37:g.7734412C>G	ENSP00000458355:p.Ala4080Gly					DNAH2_uc010cnm.1_Missense_Mutation_p.A1018G	p.A4080G	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			79	12253	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	4080			TPR 4.		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.12239C>G	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	3.727	-0.056296	0.07362	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.07114	3.22	5.84	-1.7	0.08159	Dynein heavy chain (1);	2.182830	0.01863	N	0.036709	T	0.08447	0.0210	L	0.33189	0.99	0.09310	N	1	B;B	0.21225	0.053;0.019	B;B	0.29176	0.06;0.099	T	0.39440	-0.9614	10	0.19147	T	0.46	.	8.3351	0.32211	0.1264:0.5151:0.0:0.3586	.	4041;4080	Q9P225-2;Q9P225	.;DYH2_HUMAN	G	4041;4080	ENSP00000373825:A4080G	ENSP00000353818:A4041G	A	+	2	0	DNAH2	7675137	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-0.277000	0.08502	-0.663000	0.05331	-0.367000	0.07326	GCA		0.517	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		4	301	0	0	0	0	4	301				
KCNH4	23415	broad.mit.edu	37	17	40322231	40322231	+	Silent	SNP	C	C	T	rs550145042		TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr17:40322231C>T	ENST00000264661.3	-	8	1616	c.1284G>A	c.(1282-1284)gcG>gcA	p.A428A	KCNH4_ENST00000607371.1_Silent_p.A428A	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	428					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGTACAGTGCCGCGATGTAGG	0.602																																					NSCLC(117;707 1703 2300 21308 31858)	uc002hzb.2		NA																	0				large_intestine(1)	1						c.(1282-1284)GCG>GCA		potassium voltage-gated channel, subfamily H,							71.0	56.0	61.0					17																	40322231		2203	4300	6503	SO:0001819	synonymous_variant	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40322231C>T	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1284G>A	17.37:g.40322231C>T							p.A428A	NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	8	1617	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	428						Silent	SNP	ENST00000264661.3	37	c.1284G>A	CCDS11420.1																																																																																				0.602	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		15	27	0	0	0	0	15	27				
OR4D1	26689	broad.mit.edu	37	17	56232955	56232955	+	Silent	SNP	C	C	T	rs372813872		TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr17:56232955C>T	ENST00000268912.5	+	1	462	c.441C>T	c.(439-441)gcC>gcT	p.A147A		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	147					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TGGTAGTAGCCGCCTGGGTGG	0.532																																						uc010wno.1		NA																	0				ovary(1)	1						c.(439-441)GCC>GCT		olfactory receptor, family 4, subfamily D,		C		1,4401	2.1+/-5.4	0,1,2200	64.0	67.0	66.0		441	-3.8	0.1	17		66	0,8598		0,0,4299	no	coding-synonymous	OR4D1	NM_012374.1		0,1,6499	TT,TC,CC		0.0,0.0227,0.0077		147/311	56232955	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	26689				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56232955C>T	X89670	CCDS42365.1	17q22	2012-08-09			ENSG00000141194	ENSG00000141194		"""GPCR / Class A : Olfactory receptors"""	8293	protein-coding gene	gene with protein product				OR4D3		9119360	Standard	NM_012374		Approved	TPCR16	uc010wno.2	Q15615		ENST00000268912.5:c.441C>T	17.37:g.56232955C>T						MSX2P1_uc002ivn.2_5'Flank	p.A147A	NM_012374	NP_036506	Q15615	OR4D1_HUMAN			1	441	+			147			Helical; Name=4; (Potential).		B2RN14|Q8NGB1|Q96R76	Silent	SNP	ENST00000268912.5	37	c.441C>T	CCDS42365.1																																																																																				0.532	OR4D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443364.1			21	59	0	0	0	0	21	59				
RGS9	8787	broad.mit.edu	37	17	63206625	63206625	+	Missense_Mutation	SNP	C	C	T	rs572338388		TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr17:63206625C>T	ENST00000262406.9	+	17	1376	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W	RGS9_ENST00000443584.3_Missense_Mutation_p.R434W|RGS9_ENST00000449996.3_Missense_Mutation_p.R434W	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	437					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CCCTTTTATGCGGCGTCACCT	0.572													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17810	0.0		0.0	False		,,,				2504	0.0					uc002jfe.2		NA																	0				ovary(2)|skin(2)	4						c.(1309-1311)CGG>TGG		regulator of G-protein signaling 9 isoform 1							121.0	125.0	124.0					17																	63206625		2081	4207	6288	SO:0001583	missense	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63206625C>T	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1309C>T	17.37:g.63206625C>T	ENSP00000262406:p.Arg437Trp					RGS9_uc010dem.2_Missense_Mutation_p.R434W|RGS9_uc002jfd.2_Missense_Mutation_p.R434W|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.R208W	p.R437W	NM_003835	NP_003826	O75916	RGS9_HUMAN			17	1419	+			437					A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	c.1309C>T	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914989	0.33815	.	.	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.34472	1.36;1.36	5.31	1.97	0.26223	.	0.195954	0.45126	D	0.000391	T	0.52901	0.1763	L	0.59436	1.845	0.36049	D	0.840602	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69654	0.965;0.922;0.964	T	0.63037	-0.6726	10	0.62326	D	0.03	.	14.0681	0.64844	0.4014:0.5986:0.0:0.0	.	437;437;434	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	W	437;434	ENSP00000262406:R437W;ENSP00000396329:R434W	ENSP00000262406:R437W	R	+	1	2	RGS9	60637087	0.997000	0.39634	0.997000	0.53966	0.867000	0.49689	1.611000	0.36879	0.232000	0.21100	0.655000	0.94253	CGG		0.572	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		4	128	0	0	0	0	4	128				
PCYT2	5833	broad.mit.edu	37	17	79866789	79866789	+	Silent	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr17:79866789G>A	ENST00000538936.2	-	3	411	c.303C>T	c.(301-303)acC>acT	p.T101T	PCYT2_ENST00000571105.1_Silent_p.T101T|PCYT2_ENST00000570391.1_Silent_p.T69T|PCYT2_ENST00000538721.2_Silent_p.T101T|PCYT2_ENST00000570388.1_Silent_p.T23T|PCYT2_ENST00000331285.3_Silent_p.T23T	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	101					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)	ethanolamine-phosphate cytidylyltransferase activity (GO:0004306)			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		Lamivudine(DB00709)	ATTTGTCCAGGGTCTCTAGTG	0.587																																						uc002kcf.1		NA																	0					0						c.(301-303)ACC>ACT		phosphate cytidylyltransferase 2, ethanolamine							106.0	107.0	106.0					17																	79866789		2203	4296	6499	SO:0001819	synonymous_variant	5833				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity	g.chr17:79866789G>A	D84307	CCDS11791.1, CCDS54178.1, CCDS58610.1, CCDS62364.1	17q25.3	2008-07-18				ENSG00000185813			8756	protein-coding gene	gene with protein product		602679				9083101	Standard	XM_005256386		Approved	ET	uc002kch.2	Q99447		ENST00000538936.2:c.303C>T	17.37:g.79866789G>A						PCYT2_uc010wva.1_Silent_p.T69T|PCYT2_uc010wvb.1_Silent_p.T69T|PCYT2_uc002kce.1_Silent_p.T23T|PCYT2_uc002kcg.1_Silent_p.T112T|PCYT2_uc002kch.1_Silent_p.T101T|PCYT2_uc002kci.1_Silent_p.T42T|PCYT2_uc010dii.1_Silent_p.T101T|PCYT2_uc010wvc.1_Silent_p.T23T	p.T101T	NM_002861	NP_002852	Q99447	PCY2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		3	366	-	all_neural(118;0.0878)|Ovarian(332;0.12)		101			Catalytic 1 (Potential).		B7Z7A5|B7ZAS0|F5H8B1|Q6IBM3|Q96G08	Silent	SNP	ENST00000538936.2	37	c.303C>T	CCDS11791.1																																																																																				0.587	PCYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439939.1	NM_002861		10	84	0	0	0	0	10	84				
EPB41L3	23136	broad.mit.edu	37	18	5396229	5396229	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr18:5396229T>G	ENST00000341928.2	-	19	3284	c.2944A>C	c.(2944-2946)Acc>Ccc	p.T982P	EPB41L3_ENST00000342933.3_Missense_Mutation_p.T982P|EPB41L3_ENST00000400111.3_Missense_Mutation_p.T760P|EPB41L3_ENST00000542146.1_Missense_Mutation_p.T287P|EPB41L3_ENST00000427684.2_Missense_Mutation_p.T279P|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Missense_Mutation_p.T760P|EPB41L3_ENST00000544123.1_Missense_Mutation_p.T813P	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	982	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ATGGTTTTGGTTTCGGTGTGA	0.458																																						uc002kmt.1		NA																	0				ovary(5)	5						c.(2944-2946)ACC>CCC		erythrocyte membrane protein band 4.1-like 3							283.0	269.0	274.0					18																	5396229		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5396229T>G	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2944A>C	18.37:g.5396229T>G	ENSP00000343158:p.Thr982Pro					EPB41L3_uc010wzh.1_Missense_Mutation_p.T813P|EPB41L3_uc002kmu.1_Missense_Mutation_p.T760P|EPB41L3_uc010dkq.1_Missense_Mutation_p.T651P|EPB41L3_uc002kms.1_Missense_Mutation_p.T217P|EPB41L3_uc010wze.1_Missense_Mutation_p.T287P|EPB41L3_uc010wzf.1_Missense_Mutation_p.T279P|EPB41L3_uc010wzg.1_Missense_Mutation_p.T254P|EPB41L3_uc010dkr.2_Missense_Mutation_p.T374P	p.T982P	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			19	3030	-			982			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2944A>C	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	T	29.6	5.020159	0.93462	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.84	5.84	0.93424	Band 4.1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88941	0.6574	M	0.83953	2.67	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;0.999;1.0;0.999	D;D;D;D;D;D;D;D	0.97110	0.996;0.999;0.994;0.996;0.999;0.983;1.0;0.996	D	0.90230	0.4278	10	0.66056	D	0.02	.	16.226	0.82293	0.0:0.0:0.0:1.0	.	813;279;287;374;651;760;982;217	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	P	982;651;813;651;279;287;982;760	ENSP00000343158:T982P;ENSP00000441174:T813P;ENSP00000392195:T279P;ENSP00000442233:T287P;ENSP00000341138:T982P;ENSP00000382981:T760P	ENSP00000343158:T982P	T	-	1	0	EPB41L3	5386229	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.973000	0.88032	2.230000	0.72887	0.528000	0.53228	ACC		0.458	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		5	187	0	0	0	0	5	187				
TCEB3B	51224	broad.mit.edu	37	18	44561118	44561118	+	Missense_Mutation	SNP	G	G	A	rs202180726		TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr18:44561118G>A	ENST00000332567.4	-	1	870	c.518C>T	c.(517-519)aCg>aTg	p.T173M	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	173					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AGCTGTGCGCGTTGGAGAGGC	0.687																																						uc002lcr.1		NA																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(517-519)ACG>ATG		elongin A2							36.0	43.0	40.0					18																	44561118		2199	4294	6493	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44561118G>A	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.518C>T	18.37:g.44561118G>A	ENSP00000331302:p.Thr173Met					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.T173M	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN			1	871	-			173					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.518C>T	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	G	4.694	0.129028	0.08981	.	.	ENSG00000206181	ENST00000332567	T	0.07688	3.17	2.26	-2.13	0.07144	.	25.205800	0.00166	N	0.000001	T	0.05547	0.0146	N	0.22421	0.69	0.09310	N	1	B	0.30068	0.267	B	0.15052	0.012	T	0.28744	-1.0034	10	0.51188	T	0.08	10.0522	4.1029	0.10023	0.2595:0.3675:0.373:0.0	.	173	Q8IYF1	ELOA2_HUMAN	M	173	ENSP00000331302:T173M	ENSP00000331302:T173M	T	-	2	0	TCEB3B	42815116	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.827000	0.01704	-0.708000	0.05015	-2.318000	0.00253	ACG		0.687	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		7	71	0	0	0	0	7	71				
ICAM5	7087	broad.mit.edu	37	19	10404565	10404565	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr19:10404565G>A	ENST00000221980.4	+	7	1720	c.1657G>A	c.(1657-1659)Gaa>Aaa	p.E553K		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	553	Ig-like C2-type 6.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TTACCGCTGCGAAGCCACCAA	0.652																																						uc002mnu.3		NA																	0				breast(3)	3						c.(1657-1659)GAA>AAA		intercellular adhesion molecule 5 precursor							50.0	57.0	54.0					19																	10404565		2202	4300	6502	SO:0001583	missense	7087				cell-cell adhesion	integral to plasma membrane		g.chr19:10404565G>A	U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.1657G>A	19.37:g.10404565G>A	ENSP00000221980:p.Glu553Lys					ICAM5_uc002mnv.3_Missense_Mutation_p.E428K	p.E553K	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		7	1722	+			553			Extracellular (Potential).|Ig-like C2-type 6.		Q9Y6F3	Missense_Mutation	SNP	ENST00000221980.4	37	c.1657G>A	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760603	0.49468	.	.	ENSG00000105376	ENST00000221980	T	0.12147	2.71	5.5	0.816	0.18768	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.447197	0.20985	N	0.082153	T	0.09598	0.0236	N	0.11427	0.14	0.09310	N	1	D	0.71674	0.998	P	0.60609	0.877	T	0.15578	-1.0432	10	0.02654	T	1	-12.2968	5.2431	0.15483	0.178:0.3258:0.4962:0.0	.	553	Q9UMF0	ICAM5_HUMAN	K	553	ENSP00000221980:E553K	ENSP00000221980:E553K	E	+	1	0	ICAM5	10265565	0.001000	0.12720	0.054000	0.19295	0.023000	0.10783	0.427000	0.21379	0.252000	0.21531	0.549000	0.68633	GAA		0.652	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259		12	42	0	0	0	0	12	42				
DCAF15	90379	broad.mit.edu	37	19	14070879	14070879	+	Silent	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr19:14070879C>T	ENST00000254337.6	+	10	1545	c.1524C>T	c.(1522-1524)ctC>ctT	p.L508L		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	508					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						AGGGCCAGCTCCGGTGAGCGC	0.667											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mxt.2		NA																	0				central_nervous_system(1)	1						c.(1522-1524)CTC>CTT		DDB1 and CUL4 associated factor 15							50.0	44.0	46.0					19																	14070879		2202	4300	6502	SO:0001819	synonymous_variant	90379							g.chr19:14070879C>T	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"""DDB1 and CUL4 associated factors"""	25095	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 72"""	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.1524C>T	19.37:g.14070879C>T			OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	692	DCAF15_uc002mxu.2_RNA	p.L508L	NM_138353	NP_612362	Q66K64	DCA15_HUMAN			10	1530	+			508					B3KS86|Q96DW0|Q9BU31	Silent	SNP	ENST00000254337.6	37	c.1524C>T	CCDS32926.1																																																																																				0.667	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		4	25	0	0	0	0	4	25				
CD97	976	broad.mit.edu	37	19	14517888	14517888	+	Silent	SNP	G	G	A	rs141170739	byFrequency	TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr19:14517888G>A	ENST00000242786.5	+	18	2303	c.2223G>A	c.(2221-2223)acG>acA	p.T741T	CTC-548K16.5_ENST00000590626.1_RNA|DDX39A_ENST00000592927.1_5'Flank|CD97_ENST00000358600.3_Silent_p.T648T|CD97_ENST00000357355.3_Silent_p.T692T	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	741					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGACCATCACGGCCATCGCGC	0.637																																						uc002myl.2		NA																	0				ovary(3)|breast(1)	4						c.(2221-2223)ACG>ACA		CD97 antigen isoform 1 precursor		G	,,	2,4404	4.2+/-10.8	0,2,2201	109.0	78.0	88.0		2076,1944,2223	-10.5	0.0	19	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	CD97	NM_001025160.2,NM_001784.4,NM_078481.3	,,	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	,,	692/787,648/743,741/836	14517888	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14517888G>A		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.2223G>A	19.37:g.14517888G>A						CD97_uc002mym.2_Silent_p.T692T|CD97_uc002myn.2_Silent_p.T648T	p.T741T	NM_078481	NP_510966	P48960	CD97_HUMAN			18	2346	+			741			Helical; Name=6; (Potential).		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	SNP	ENST00000242786.5	37	c.2223G>A	CCDS32929.1																																																																																				0.637	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		11	68	0	0	0	0	11	68				
PTOV1	53635	broad.mit.edu	37	19	50357788	50357788	+	Silent	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr19:50357788C>T	ENST00000601675.1	+	2	401	c.297C>T	c.(295-297)ctC>ctT	p.L99L	PTOV1-AS1_ENST00000596521.1_RNA|PTOV1_ENST00000601638.1_Silent_p.L67L|MIR4749_ENST00000578197.1_RNA|AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000600603.1_Silent_p.L67L|PTOV1_ENST00000221557.9_Silent_p.L67L|PTOV1_ENST00000391842.1_Silent_p.L99L|AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000599732.1_Silent_p.L99L			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	99					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GCGGCGTCCTCGAGTGGCAGG	0.672																																						uc002pqf.1		NA																	0					0						c.(295-297)CTC>CTT		prostate tumor overexpressed 1							34.0	38.0	37.0					19																	50357788		2203	4299	6502	SO:0001819	synonymous_variant	53635				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane		g.chr19:50357788C>T	AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.297C>T	19.37:g.50357788C>T						uc002ppy.3_5'Flank|PTOV1_uc010ybf.1_Silent_p.L67L|PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Silent_p.L67L|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA	p.L99L	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)	2	467	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	99					Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	Silent	SNP	ENST00000601675.1	37	c.297C>T	CCDS12782.1																																																																																				0.672	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465347.1	NM_017432		5	64	0	0	0	0	5	64				
TMEM190	147744	broad.mit.edu	37	19	55889198	55889198	+	Silent	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr19:55889198G>A	ENST00000291934.3	+	4	267	c.249G>A	c.(247-249)gcG>gcA	p.A83A	CTD-2105E13.15_ENST00000595064.1_RNA	NM_139172.1	NP_631911.1	Q8WZ59	TM190_HUMAN	transmembrane protein 190	83					hematopoietic progenitor cell differentiation (GO:0002244)	inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		ACATGTGGGCGCTGGTCTGGA	0.692																																						uc002qkt.1		NA																	0					0						c.(247-249)GCG>GCA		transmembrane protein 190 precursor							51.0	53.0	52.0					19																	55889198		2203	4300	6503	SO:0001819	synonymous_variant	147744					integral to membrane		g.chr19:55889198G>A	AF442729	CCDS33113.1	19q13.42	2011-09-28				ENSG00000160472			29632	protein-coding gene	gene with protein product						21273369	Standard	NM_139172		Approved	MDAC1	uc002qkt.1	Q8WZ59		ENST00000291934.3:c.249G>A	19.37:g.55889198G>A							p.A83A	NM_139172	NP_631911	Q8WZ59	TM190_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	4	267	+	Breast(117;0.191)		83			Helical; (Potential).		A6NJL5	Silent	SNP	ENST00000291934.3	37	c.249G>A	CCDS33113.1																																																																																				0.692	TMEM190-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453042.1	NM_139172		5	64	0	0	0	0	5	64				
ZNF549	256051	broad.mit.edu	37	19	58049987	58049987	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr19:58049987A>G	ENST00000376233.3	+	4	1796	c.1615A>G	c.(1615-1617)Agc>Ggc	p.S539G	ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.S526G	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	539					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAAAGTCTTCAGCCACCAAAA	0.443																																						uc002qpb.1		NA																	0				ovary(1)	1						c.(1615-1617)AGC>GGC		zinc finger protein 549							66.0	68.0	67.0					19																	58049987		2203	4300	6503	SO:0001583	missense	256051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58049987A>G	AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.1615A>G	19.37:g.58049987A>G	ENSP00000365407:p.Ser539Gly					ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Missense_Mutation_p.S526G	p.S539G	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1864	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	539			C2H2-type 12.		B3KV91|O43336|Q8NAR4	Missense_Mutation	SNP	ENST00000376233.3	37	c.1615A>G	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	A	13.62	2.292857	0.40594	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.05081	3.5;3.5	2.6	1.53	0.23141	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06690	0.0171	L	0.55481	1.735	0.09310	N	0.999998	B;P	0.36990	0.056;0.577	B;B	0.32677	0.018;0.15	T	0.26883	-1.0090	9	0.59425	D	0.04	.	6.9594	0.24590	0.7659:0.2341:0.0:0.0	.	539;526	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	G	526;539	ENSP00000240719:S526G;ENSP00000365407:S539G	ENSP00000240719:S526G	S	+	1	0	ZNF549	62741799	0.000000	0.05858	0.000000	0.03702	0.832000	0.47134	-0.004000	0.12878	0.220000	0.20860	0.477000	0.44152	AGC		0.443	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263		4	56	0	0	0	0	4	56				
CCDC85A	114800	broad.mit.edu	37	2	56420192	56420192	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr2:56420192G>T	ENST00000407595.2	+	2	1359	c.857G>T	c.(856-858)tGc>tTc	p.C286F	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	286	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AAACCCTTGTGCAAGGGCAGC	0.632																																						uc002rzn.2		NA																	0				breast(3)|ovary(2)	5						c.(856-858)TGC>TTC		coiled-coil domain containing 85A							59.0	74.0	69.0					2																	56420192		2051	4191	6242	SO:0001583	missense	114800							g.chr2:56420192G>T	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.857G>T	2.37:g.56420192G>T	ENSP00000384040:p.Cys286Phe						p.C286F	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	1359	+			286			His-rich.			Missense_Mutation	SNP	ENST00000407595.2	37	c.857G>T	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.757845	0.31137	.	.	ENSG00000055813	ENST00000407595	T	0.44083	0.93	5.35	4.38	0.52667	.	0.210181	0.48767	D	0.000168	T	0.24160	0.0585	N	0.08118	0	0.80722	D	1	B	0.31125	0.309	B	0.25884	0.064	T	0.09271	-1.0682	10	0.33940	T	0.23	-22.0865	16.8852	0.86074	0.0:0.0:0.8343:0.1657	.	286	Q96PX6	CC85A_HUMAN	F	286	ENSP00000384040:C286F	ENSP00000384040:C286F	C	+	2	0	CCDC85A	56273696	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.242000	0.58714	2.507000	0.84556	0.591000	0.81541	TGC		0.632	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			16	84	1	0	4.15e-12	4.73e-12	16	84				
TTN	7273	broad.mit.edu	37	2	179433038	179433038	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr2:179433038C>T	ENST00000591111.1	-	276	73122	c.72898G>A	c.(72898-72900)Gtt>Att	p.V24300I	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V23373I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V17068I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V25941I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V17001I|TTN_ENST00000460472.2_Missense_Mutation_p.V16876I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24300	Fibronectin type-III 76. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			GTAGCAGAAACAACATCCCAT	0.383																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(70117-70119)GTT>ATT		titin isoform N2-A							100.0	96.0	97.0					2																	179433038		1876	4105	5981	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179433038C>T	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.72898G>A	2.37:g.179433038C>T	ENSP00000465570:p.Val24300Ile					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V17068I|TTN_uc010zfi.1_Missense_Mutation_p.V17001I|TTN_uc010zfj.1_Missense_Mutation_p.V16876I	p.V23373I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	70341	-			24300					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.70117G>A		.	.	.	.	.	.	.	.	.	.	C	13.20	2.165215	0.38217	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.73	5.73	0.89815	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67268	0.2875	M	0.66378	2.025	0.49213	D	0.999766	D;D;D;D	0.57899	0.962;0.962;0.962;0.981	P;P;P;P	0.54499	0.622;0.622;0.622;0.754	T	0.69928	-0.5012	9	0.87932	D	0	.	19.9087	0.97016	0.0:1.0:0.0:0.0	.	16876;17001;17068;24300	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	23373;16876;17068;17001;16874	ENSP00000343764:V23373I;ENSP00000434586:V16876I;ENSP00000340554:V17068I;ENSP00000352154:V17001I	ENSP00000340554:V17068I	V	-	1	0	TTN	179141284	1.000000	0.71417	0.980000	0.43619	0.980000	0.70556	4.838000	0.62803	2.687000	0.91594	0.655000	0.94253	GTT		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	58	0	0	0	0	18	58				
TTN	7273	broad.mit.edu	37	2	179587178	179587178	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr2:179587178C>A	ENST00000591111.1	-	75	21609	c.21385G>T	c.(21385-21387)Gca>Tca	p.A7129S	TTN_ENST00000342992.6_Missense_Mutation_p.A6202S|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.A7446S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12704	Ig-like 53.				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)			TGGATGGGTGCAGAGCCATTT	0.393																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(18604-18606)GCA>TCA		titin isoform N2-A							84.0	82.0	83.0					2																	179587178		1866	4118	5984	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179587178C>A	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.21385G>T	2.37:g.179587178C>A	ENSP00000465570:p.Ala7129Ser					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A2863S	p.A6202S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		74	18828	-			7129					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.18604G>T		.	.	.	.	.	.	.	.	.	.	C	10.28	1.307542	0.23821	.	.	ENSG00000155657	ENST00000342992	T	0.71934	-0.61	5.95	5.06	0.68205	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53158	0.1779	N	0.05124	-0.11	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.51687	-0.8674	9	0.87932	D	0	.	16.3494	0.83197	0.1332:0.8668:0.0:0.0	.	7129	Q8WZ42	TITIN_HUMAN	S	6202	ENSP00000343764:A6202S	ENSP00000343764:A6202S	A	-	1	0	TTN	179295423	0.089000	0.21612	0.966000	0.40874	0.994000	0.84299	0.869000	0.27996	1.481000	0.48307	0.650000	0.86243	GCA		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	69	1	0	1.58e-08	1.78e-08	14	69				
NEUROD1	4760	broad.mit.edu	37	2	182542610	182542610	+	Silent	SNP	G	G	A	rs184871420		TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr2:182542610G>A	ENST00000295108.3	-	2	1435	c.978C>T	c.(976-978)tgC>tgT	p.C326C	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	326					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TGGGGATCTCGCAGCGAGGGG	0.502																																						uc002uof.2		NA																	0				ovary(1)	1						c.(976-978)TGC>TGT		neurogenic differentiation 1		G		0,4406		0,0,2203	94.0	95.0	95.0		978	-0.0	1.0	2		95	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NEUROD1	NM_002500.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		326/357	182542610	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182542610G>A	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.978C>T	2.37:g.182542610G>A						CERKL_uc002uod.1_Intron	p.C326C	NM_002500	NP_002491	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	1214	-			326					B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Silent	SNP	ENST00000295108.3	37	c.978C>T	CCDS2283.1																																																																																				0.502	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		10	102	0	0	0	0	10	102				
SPAG16	79582	broad.mit.edu	37	2	214878680	214878680	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr2:214878680G>A	ENST00000331683.5	+	13	1501	c.1406G>A	c.(1405-1407)aGa>aAa	p.R469K	SPAG16_ENST00000374309.3_Missense_Mutation_p.R375K	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	469					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TATAGTGAAAGATGCAGATGT	0.338																																						uc002veq.2		NA																	0				ovary(1)|skin(1)	2						c.(1405-1407)AGA>AAA		sperm associated antigen 16 isoform 1							118.0	117.0	118.0					2																	214878680		2203	4300	6503	SO:0001583	missense	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214878680G>A	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1406G>A	2.37:g.214878680G>A	ENSP00000332592:p.Arg469Lys					SPAG16_uc010fuz.1_Missense_Mutation_p.R320K|SPAG16_uc002ver.2_Missense_Mutation_p.R415K|SPAG16_uc010zjk.1_Missense_Mutation_p.R375K	p.R469K	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	13	1498	+		Renal(323;0.00461)	469			WD 3.		Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	c.1406G>A	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	G	4.400	0.073810	0.08485	.	.	ENSG00000144451	ENST00000331683;ENST00000374309;ENST00000451561	T;T;T	0.80304	-1.36;-1.36;-1.33	5.01	2.2	0.27929	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.306169	0.22313	N	0.061706	T	0.63260	0.2496	L	0.29908	0.895	0.37185	D	0.903654	B;B;B;B	0.32653	0.028;0.023;0.379;0.051	B;B;B;B	0.31101	0.019;0.011;0.124;0.027	T	0.55173	-0.8182	10	0.09084	T	0.74	.	7.6383	0.28280	0.1431:0.0:0.7229:0.1341	.	375;320;409;469	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	K	469;375;93	ENSP00000332592:R469K;ENSP00000363428:R375K;ENSP00000416600:R93K	ENSP00000332592:R469K	R	+	2	0	SPAG16	214586925	1.000000	0.71417	0.939000	0.37840	0.637000	0.38172	4.068000	0.57534	0.218000	0.20820	-0.169000	0.13324	AGA		0.338	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		10	73	0	0	0	0	10	73				
UGT1A1	54658	broad.mit.edu	37	2	234669125	234669125	+	Silent	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr2:234669125C>T	ENST00000608383.1	+	1	192	c.192C>T	c.(190-192)gcC>gcT	p.A64A	UGT1A6_ENST00000373424.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A8_ENST00000305208.5_Silent_p.A64A|UGT1A1_ENST00000609637.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000360418.3_Silent_p.A64A|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A9_ENST00000354728.4_Intron			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	64					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	CACCTGACGCCTCGTTGTACA	0.522																																						uc002vvb.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(190-192)GCC>GCT		UDP glycosyltransferase 1 family, polypeptide A1	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)						172.0	144.0	153.0					2																	234669125		2203	4300	6503	SO:0001819	synonymous_variant	54658				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234669125C>T	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000608383.1:c.192C>T	2.37:g.234669125C>T						UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Silent_p.A64A	p.A64A	NM_000463	NP_000454	P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	1	207	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	64					A6NJC3|B8K286	Silent	SNP	ENST00000608383.1	37	c.192C>T	CCDS2510.1																																																																																				0.522	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	protein_coding				11	88	0	0	0	0	11	88				
GDF5	8200	broad.mit.edu	37	20	34022565	34022565	+	Silent	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr20:34022565C>T	ENST00000374372.1	-	4	1151	c.648G>A	c.(646-648)gtG>gtA	p.V216V	GDF5_ENST00000374369.3_Silent_p.V216V|GDF5OS_ENST00000374375.1_Silent_p.T203T			P43026	GDF5_HUMAN	growth differentiation factor 5	216					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GCTTCCTGACCACGGGACCTC	0.612																																						uc010gfc.1		NA																	0					0						c.(646-648)GTG>GTA		growth differentiation factor 5 preproprotein							108.0	113.0	111.0					20																	34022565		2203	4300	6503	SO:0001819	synonymous_variant	8200				cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr20:34022565C>T	X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"""cartilage-derived morphogenetic protein-1"""	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.648G>A	20.37:g.34022565C>T						uc002xcj.2_Missense_Mutation_p.H326Y|GDF5_uc002xck.1_Silent_p.V216V|GDF5_uc010zvc.1_Silent_p.V216V	p.V216V	NM_000557	NP_000548	P43026	GDF5_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00663)		2	889	-	Lung NSC(9;0.00642)|all_lung(11;0.0094)		216					E1P5Q2|Q96SB1	Silent	SNP	ENST00000374372.1	37	c.648G>A	CCDS13254.1																																																																																				0.612	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078875.2			38	151	0	0	0	0	38	151				
TOP2B	7155	broad.mit.edu	37	3	25639860	25639860	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr3:25639860C>T	ENST00000264331.4	-	36	4818	c.4819G>A	c.(4819-4821)Gta>Ata	p.V1607I	TOP2B_ENST00000435706.2_Missense_Mutation_p.V1602I|TOP2B_ENST00000540199.1_Missense_Mutation_p.V459I|TOP2B_ENST00000542520.1_Missense_Mutation_p.V459I	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1607					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	AAATATTTTACTTCTTTCCTA	0.403																																						uc003cdj.2		NA																	0				breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(4804-4806)GTA>ATA		DNA topoisomerase II, beta isozyme							139.0	137.0	138.0					3																	25639860		1862	4101	5963	SO:0001583	missense	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25639860C>T	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.4819G>A	3.37:g.25639860C>T	ENSP00000264331:p.Val1607Ile					TOP2B_uc011awm.1_Missense_Mutation_p.V459I|TOP2B_uc010hff.1_Missense_Mutation_p.V468I	p.V1602I	NM_001068	NP_001059	Q02880	TOP2B_HUMAN			36	4804	-			1607					Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37	c.4804G>A		.	.	.	.	.	.	.	.	.	.	C	2.517	-0.311517	0.05422	.	.	ENSG00000077097	ENST00000542520;ENST00000435706;ENST00000264331;ENST00000540199	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.64	5.64	0.86602	DTHCT (1);	0.000000	0.85682	D	0.000000	T	0.29028	0.0721	N	0.08118	0	0.54753	D	0.999987	B;B	0.25272	0.122;0.1	B;B	0.20577	0.03;0.017	T	0.12451	-1.0547	10	0.14656	T	0.56	-13.9222	17.8735	0.88818	0.0:1.0:0.0:0.0	.	1607;1602	Q02880;Q02880-2	TOP2B_HUMAN;.	I	459;1602;1607;459	ENSP00000446023:V459I;ENSP00000396704:V1602I;ENSP00000264331:V1607I;ENSP00000437352:V459I	ENSP00000264331:V1607I	V	-	1	0	TOP2B	25614864	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.298000	0.72763	2.662000	0.90505	0.591000	0.81541	GTA		0.403	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				11	43	0	0	0	0	11	43				
SLC7A14	57709	broad.mit.edu	37	3	170198808	170198808	+	Silent	SNP	C	C	T	rs557108685		TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr3:170198808C>T	ENST00000231706.5	-	7	1578	c.1263G>A	c.(1261-1263)ttG>ttA	p.L421L	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	421					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AGACAGAGACCAAGGTGTAGG	0.532																																						uc003fgz.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5						c.(1261-1263)TTG>TTA		solute carrier family 7 (cationic amino acid							134.0	114.0	121.0					3																	170198808		2203	4300	6503	SO:0001819	synonymous_variant	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170198808C>T	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1263G>A	3.37:g.170198808C>T						CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	p.L421L	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		7	1579	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		421			Helical; (Potential).		B3KV33|Q9HCF9	Silent	SNP	ENST00000231706.5	37	c.1263G>A	CCDS33892.1																																																																																				0.532	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		14	91	0	0	0	0	14	91				
INTS12	57117	broad.mit.edu	37	4	106621141	106621141	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr4:106621141C>T	ENST00000451321.2	-	2	501	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	INTS12_ENST00000340139.5_Missense_Mutation_p.E8K|INTS12_ENST00000394735.1_Missense_Mutation_p.E8K	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	8					snRNA processing (GO:0016180)	integrator complex (GO:0032039)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		GGATCAAGTTCCAAGTTCACA	0.358																																						uc003hxw.2		NA																	0					0						c.(22-24)GAA>AAA		integrator complex subunit 12							105.0	114.0	111.0					4																	106621141		2203	4300	6503	SO:0001583	missense	57117				snRNA processing	integrator complex	protein binding|zinc ion binding	g.chr4:106621141C>T		CCDS3671.1	4q24	2013-01-28	2006-03-15	2006-03-15	ENSG00000138785	ENSG00000138785		"""Zinc fingers, PHD-type"""	25067	protein-coding gene	gene with protein product	"""hypothetical nuclear factor SBBI22"""	611355	"""PHD finger protein 22"""	PHF22		16239144	Standard	NM_020395		Approved	SBBI22, INT12	uc010ilr.3	Q96CB8	OTTHUMG00000131215	ENST00000451321.2:c.22G>A	4.37:g.106621141C>T	ENSP00000415433:p.Glu8Lys					INTS12_uc010ilr.2_Missense_Mutation_p.E8K	p.E8K	NM_020395	NP_065128	Q96CB8	INT12_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)	3	280	-			8					B2RC48|Q3B6Z3|Q9HD71	Missense_Mutation	SNP	ENST00000451321.2	37	c.22G>A	CCDS3671.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745237	0.89663	.	.	ENSG00000138785	ENST00000394735;ENST00000340139;ENST00000451321;ENST00000503746;ENST00000420368;ENST00000416543;ENST00000433009;ENST00000510876;ENST00000515819	T;T;T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.68522	0.3010	M	0.63843	1.955	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.68503	-0.5391	10	0.72032	D	0.01	-27.573	20.2789	0.98501	0.0:1.0:0.0:0.0	.	8	Q96CB8	INT12_HUMAN	K	8;8;8;8;8;8;8;21;8	ENSP00000378221:E8K;ENSP00000340737:E8K;ENSP00000415433:E8K;ENSP00000423618:E8K;ENSP00000412317:E8K;ENSP00000396309:E8K;ENSP00000396729:E8K;ENSP00000422856:E21K;ENSP00000422048:E8K	ENSP00000340737:E8K	E	-	1	0	INTS12	106840590	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.265000	0.78442	2.788000	0.95919	0.650000	0.86243	GAA		0.358	INTS12-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318624.1	NM_020395		37	85	0	0	0	0	37	85				
ENPP6	133121	broad.mit.edu	37	4	185012424	185012424	+	Missense_Mutation	SNP	A	A	C	rs558860176		TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr4:185012424A>C	ENST00000296741.2	-	8	1370	c.1229T>G	c.(1228-1230)gTg>gGg	p.V410G		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	410					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		CATGCACATCACCCTGGACCA	0.587																																						uc003iwc.2		NA																	0				central_nervous_system(1)	1						c.(1228-1230)GTG>GGG		ectonucleotide pyrophosphatase/phosphodiesterase							93.0	85.0	87.0					4																	185012424		2203	4300	6503	SO:0001583	missense	133121				lipid catabolic process	extracellular region|integral to membrane|plasma membrane		g.chr4:185012424A>C	AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.1229T>G	4.37:g.185012424A>C	ENSP00000296741:p.Val410Gly						p.V410G	NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)	8	1371	-		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	410			Extracellular (Potential).		Q4W5Q1|Q96M57	Missense_Mutation	SNP	ENST00000296741.2	37	c.1229T>G	CCDS3834.1	.	.	.	.	.	.	.	.	.	.	A	19.51	3.840482	0.71488	.	.	ENSG00000164303	ENST00000296741	T	0.79352	-1.26	6.08	4.88	0.63580	.	0.054375	0.64402	N	0.000001	D	0.85906	0.5806	M	0.89095	3.005	0.80722	D	1	D	0.61697	0.99	P	0.57101	0.813	D	0.86662	0.1905	10	0.87932	D	0	-41.0989	8.317	0.32106	0.7965:0.1349:0.0687:0.0	.	410	Q6UWR7	ENPP6_HUMAN	G	410	ENSP00000296741:V410G	ENSP00000296741:V410G	V	-	2	0	ENPP6	185249418	1.000000	0.71417	0.951000	0.38953	0.645000	0.38454	6.886000	0.75611	1.092000	0.41356	0.482000	0.46254	GTG		0.587	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	NM_153343		6	76	0	0	0	0	6	76				
KLKB1	3818	broad.mit.edu	37	4	187172684	187172684	+	Silent	SNP	A	A	G			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr4:187172684A>G	ENST00000264690.6	+	9	1099	c.912A>G	c.(910-912)ggA>ggG	p.G304G	KLKB1_ENST00000513864.1_Silent_p.G304G	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	304	Apple 4. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		ACTTTGGAGGAGAAGAATTGA	0.373																																						uc003iyy.2		NA																	0				ovary(1)	1						c.(910-912)GGA>GGG		plasma kallikrein B1 precursor							103.0	108.0	106.0					4																	187172684		2202	4300	6502	SO:0001819	synonymous_variant	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187172684A>G	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.912A>G	4.37:g.187172684A>G						KLKB1_uc011clc.1_Silent_p.G102G|KLKB1_uc011cld.1_Silent_p.G266G	p.G304G	NM_000892	NP_000883	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	9	983	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	304			Apple 4.		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Silent	SNP	ENST00000264690.6	37	c.912A>G	CCDS34120.1	.	.	.	.	.	.	.	.	.	.	a	8.827	0.938875	0.18281	.	.	ENSG00000164344	ENST00000511608	.	.	.	5.45	0.319	0.15873	.	.	.	.	.	T	0.58409	0.2120	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51748	-0.8666	4	.	.	.	.	10.7562	0.46239	0.5972:0.0:0.4028:0.0	.	.	.	.	G	352	.	.	E	+	2	0	KLKB1	187409678	0.495000	0.26051	0.978000	0.43139	0.809000	0.45718	-0.419000	0.07071	-0.193000	0.10415	-0.253000	0.11424	GAG		0.373	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		3	73	0	0	0	0	3	73				
RASA1	5921	broad.mit.edu	37	5	86674234	86674234	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr5:86674234G>A	ENST00000274376.6	+	18	2930	c.2366G>A	c.(2365-2367)cGa>cAa	p.R789Q	RASA1_ENST00000456692.2_Missense_Mutation_p.R612Q|CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000512763.1_Missense_Mutation_p.R622Q|RASA1_ENST00000506290.1_Missense_Mutation_p.R623Q	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	789	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.			R -> A (in Ref. 4; AA sequence). {ECO:0000305}.	blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)	p.R789Q(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		ACCCTATTTCGAGCCACAACA	0.353																																						uc003kiw.2		NA																	1	Substitution - Missense(1)		endometrium(1)	upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5						c.(2365-2367)CGA>CAA		RAS p21 protein activator 1 isoform 1							107.0	102.0	104.0					5																	86674234		2203	4300	6503	SO:0001583	missense	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86674234G>A		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2366G>A	5.37:g.86674234G>A	ENSP00000274376:p.Arg789Gln					RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.R612Q|RASA1_uc011ctv.1_Missense_Mutation_p.R622Q|RASA1_uc011ctw.1_Missense_Mutation_p.R623Q|RASA1_uc010jaw.2_Missense_Mutation_p.R611Q	p.R789Q	NM_002890	NP_002881	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	18	2484	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	789	R -> A (in Ref. 4; AA sequence).		Ras-GAP.		B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	37	c.2366G>A	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	G	36	5.606806	0.96626	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.36	5.36	0.76844	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	T	0.79493	0.4455	H	0.95645	3.7	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.998;0.999	D	0.85560	0.1227	10	0.87932	D	0	.	19.4651	0.94934	0.0:0.0:1.0:0.0	.	623;622;623;612;789	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	Q	789;822;612;622;623	ENSP00000274376:R789Q;ENSP00000411221:R612Q;ENSP00000422008:R622Q;ENSP00000420905:R623Q	ENSP00000274376:R789Q	R	+	2	0	RASA1	86709990	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.781000	0.99029	2.671000	0.90904	0.655000	0.94253	CGA		0.353	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		13	32	0	0	0	0	13	32				
GPR98	84059	broad.mit.edu	37	5	90079036	90079036	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr5:90079036G>A	ENST00000405460.2	+	66	13423	c.13327G>A	c.(13327-13329)Gcc>Acc	p.A4443T	GPR98_ENST00000425867.2_Missense_Mutation_p.A104T	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4443	Calx-beta 30. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAGCTCCTCTGCCAGTCCCGG	0.443																																						uc003kju.2		NA																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(13327-13329)GCC>ACC		G protein-coupled receptor 98 precursor							156.0	155.0	155.0					5																	90079036		2010	4183	6193	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90079036G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.13327G>A	5.37:g.90079036G>A	ENSP00000384582:p.Ala4443Thr					GPR98_uc003kjt.2_Missense_Mutation_p.A2149T|GPR98_uc003kjw.2_Missense_Mutation_p.A104T	p.A4443T	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	66	13423	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4443			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.13327G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967388	0.74131	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.66638	-0.22;-0.22	6.17	4.37	0.52481	Na-Ca exchanger/integrin-beta4 (2);	0.045691	0.85682	N	0.000000	T	0.76047	0.3933	M	0.89715	3.055	0.44816	D	0.997823	P;P;P	0.41475	0.751;0.618;0.707	P;P;B	0.47573	0.55;0.453;0.415	T	0.74645	-0.3596	10	0.23891	T	0.37	.	11.6489	0.51277	0.0638:0.0:0.8113:0.1249	.	104;4443;104	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	T	4443;4443;104	ENSP00000384582:A4443T;ENSP00000392618:A104T	ENSP00000296619:A4443T	A	+	1	0	GPR98	90114792	1.000000	0.71417	0.044000	0.18714	0.532000	0.34746	4.629000	0.61290	0.907000	0.36646	0.655000	0.94253	GCC		0.443	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		27	113	0	0	0	0	27	113				
PSD2	84249	broad.mit.edu	37	5	139201499	139201499	+	Silent	SNP	G	G	A	rs200076969		TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr5:139201499G>A	ENST00000274710.3	+	6	1324	c.1119G>A	c.(1117-1119)ccG>ccA	p.P373P		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	373	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCCTTCCCGCTGATGGGGG	0.587																																						uc003leu.1		NA																	0				ovary(1)	1						c.(1117-1119)CCG>CCA		pleckstrin and Sec7 domain containing 2							126.0	112.0	117.0					5																	139201499		2203	4300	6503	SO:0001819	synonymous_variant	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139201499G>A	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1119G>A	5.37:g.139201499G>A							p.P373P	NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	1324	+			373			SEC7.		D3DQD3|Q8N3J8	Silent	SNP	ENST00000274710.3	37	c.1119G>A	CCDS4216.1																																																																																				0.587	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		7	64	0	0	0	0	7	64				
ABLIM3	22885	broad.mit.edu	37	5	148590346	148590346	+	Silent	SNP	G	G	A	rs201700201		TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr5:148590346G>A	ENST00000506113.1	+	6	1115	c.633G>A	c.(631-633)gaG>gaA	p.E211E	ABLIM3_ENST00000504238.1_Silent_p.E211E|ABLIM3_ENST00000326685.7_Silent_p.E211E|ABLIM3_ENST00000356541.3_Silent_p.E211E|ABLIM3_ENST00000309868.7_Silent_p.E211E|ABLIM3_ENST00000508983.1_Silent_p.E211E|RP11-331K21.1_ENST00000512647.2_RNA|RP11-331K21.1_ENST00000522685.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	211	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAAATGTGAGACTTGTGACC	0.478																																						uc003lpy.2		NA																	0				ovary(2)|skin(1)	3						c.(631-633)GAG>GAA		actin binding LIM protein family, member 3							232.0	196.0	208.0					5																	148590346		2203	4300	6503	SO:0001819	synonymous_variant	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148590346G>A	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.633G>A	5.37:g.148590346G>A						ABLIM3_uc003lpz.1_Silent_p.E211E|ABLIM3_uc003lqa.1_Silent_p.E219E|ABLIM3_uc003lqb.2_Silent_p.E211E|ABLIM3_uc003lqc.1_Silent_p.E211E|ABLIM3_uc003lqd.1_Silent_p.E211E|ABLIM3_uc003lqf.2_Silent_p.E211E|ABLIM3_uc003lqe.1_Silent_p.E211E	p.E211E	NM_014945	NP_055760	O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	884	+			211			LIM zinc-binding 4.		A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Silent	SNP	ENST00000506113.1	37	c.633G>A	CCDS4294.1																																																																																				0.478	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		41	115	0	0	0	0	41	115				
ATXN1	6310	broad.mit.edu	37	6	16328463	16328463	+	Missense_Mutation	SNP	C	C	T	rs551689167		TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr6:16328463C>T	ENST00000244769.4	-	8	1015	c.79G>A	c.(79-81)Gag>Aag	p.E27K	ATXN1_ENST00000436367.1_Missense_Mutation_p.E27K	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	27					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GCCTTCTCCTCGGAGGACCGG	0.687													C|||	1	0.000199681	0.0	0.0	5008	,	,		14763	0.001		0.0	False		,,,				2504	0.0					uc003nbt.2		NA																	0				skin(3)|central_nervous_system(1)	4						c.(79-81)GAG>AAG		ataxin 1							40.0	44.0	42.0					6																	16328463		2202	4298	6500	SO:0001583	missense	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16328463C>T	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.79G>A	6.37:g.16328463C>T	ENSP00000244769:p.Glu27Lys					ATXN1_uc010jpi.2_Missense_Mutation_p.E27K|ATXN1_uc010jpj.1_Intron	p.E27K	NM_000332	NP_000323	P54253	ATX1_HUMAN			8	1050	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	27					Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	c.79G>A	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919062	0.73098	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.51574	0.7;0.7	5.01	5.01	0.66863	.	0.156140	0.56097	D	0.000031	T	0.47710	0.1460	M	0.73962	2.25	0.80722	D	1	D	0.62365	0.991	P	0.47603	0.551	T	0.50608	-0.8808	10	0.39692	T	0.17	-19.3148	18.5131	0.90925	0.0:1.0:0.0:0.0	.	27	P54253	ATX1_HUMAN	K	27	ENSP00000244769:E27K;ENSP00000416360:E27K	ENSP00000244769:E27K	E	-	1	0	ATXN1	16436442	1.000000	0.71417	0.958000	0.39756	0.846000	0.48090	7.206000	0.77891	2.598000	0.87819	0.462000	0.41574	GAG		0.687	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		6	70	0	0	0	0	6	70				
PRL	5617	broad.mit.edu	37	6	22294767	22294767	+	Silent	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr6:22294767G>A	ENST00000306482.1	-	2	593	c.75C>T	c.(73-75)agC>agT	p.S25S	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	25					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					AGGGGGCCACGCTCTGGCACA	0.592																																						uc003ndp.2		NA																	0					0						c.(73-75)AGC>AGT		prolactin precursor							36.0	35.0	35.0					6																	22294767		2203	4300	6503	SO:0001819	synonymous_variant	5617				cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding	g.chr6:22294767G>A	D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.75C>T	6.37:g.22294767G>A						PRL_uc003ndo.2_Silent_p.S26S|PRL_uc003ndq.2_Silent_p.S25S|PRL_uc003ndr.1_RNA	p.S25S	NM_000948	NP_000939	P01236	PRL_HUMAN			2	594	-	Ovarian(93;0.163)		25					Q15199|Q92996	Silent	SNP	ENST00000306482.1	37	c.75C>T	CCDS4548.1																																																																																				0.592	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043327.1	NM_000948		4	26	0	0	0	0	4	26				
KAAG1	353219	broad.mit.edu	37	6	24357907	24357907	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr6:24357907G>A	ENST00000274766.1	+	1	777	c.40G>A	c.(40-42)Gtt>Att	p.V14I	DCDC2_ENST00000378454.3_Silent_p.N24N	NM_181337.3	NP_851854.1	Q9UBP8	KAAG1_HUMAN	kidney associated antigen 1	14					immune response (GO:0006955)					central_nervous_system(1)|lung(1)|prostate(1)	3						AGGGGTCCCCGTTGCGGTACA	0.662																																						uc003ndz.1		NA																	0					0						c.(40-42)GTT>ATT		kidney associated antigen 1							42.0	41.0	41.0					6																	24357907		2203	4300	6503	SO:0001583	missense	353219				immune response			g.chr6:24357907G>A	AF181722	CCDS4551.1	6p22.1	2010-11-23			ENSG00000146049	ENSG00000146049			21031	protein-coding gene	gene with protein product		608211				10601354	Standard	NM_181337		Approved	RU2, RU2AS	uc003ndz.1	Q9UBP8	OTTHUMG00000014354	ENST00000274766.1:c.40G>A	6.37:g.24357907G>A	ENSP00000274766:p.Val14Ile					DCDC2_uc003ndx.2_Silent_p.N24N|DCDC2_uc003ndy.2_Silent_p.N24N	p.V14I	NM_181337	NP_851854	Q9UBP8	KAAG1_HUMAN			1	777	+			14						Missense_Mutation	SNP	ENST00000274766.1	37	c.40G>A	CCDS4551.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330962	0.41297	.	.	ENSG00000146049	ENST00000274766	.	.	.	5.33	3.17	0.36434	.	.	.	.	.	T	0.30166	0.0756	.	.	.	0.23975	N	0.996299	D	0.65815	0.995	P	0.50192	0.634	T	0.06162	-1.0842	7	0.87932	D	0	-1.5187	8.9144	0.35572	0.3239:0.0:0.676:0.0	.	14	Q9UBP8	KAAG1_HUMAN	I	14	.	ENSP00000274766:V14I	V	+	1	0	KAAG1	24465886	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.536000	0.36072	1.210000	0.43336	0.650000	0.86243	GTT		0.662	KAAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040001.1			9	59	0	0	0	0	9	59				
PKHD1	5314	broad.mit.edu	37	6	51875151	51875151	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr6:51875151C>T	ENST00000371117.3	-	35	5982	c.5707G>A	c.(5707-5709)Gtc>Atc	p.V1903I	PKHD1_ENST00000340994.4_Missense_Mutation_p.V1903I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1903					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.V1903I(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTAATCTTGACGGTAATTGGC	0.393																																						uc003pah.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(5707-5709)GTC>ATC		fibrocystin isoform 1							150.0	133.0	139.0					6																	51875151		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51875151C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.5707G>A	6.37:g.51875151C>T	ENSP00000360158:p.Val1903Ile					PKHD1_uc003pai.2_Missense_Mutation_p.V1903I	p.V1903I	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			35	5983	-	Lung NSC(77;0.0605)		1903			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.5707G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.765491	0.31228	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87491	-2.08;-2.26	5.53	4.66	0.58398	.	0.146948	0.47093	D	0.000253	T	0.56659	0.2000	N	0.08118	0	0.24542	N	0.994062	P;P	0.41313	0.745;0.509	B;B	0.27500	0.08;0.017	T	0.59311	-0.7478	10	0.62326	D	0.03	.	14.1511	0.65384	0.0:0.9279:0.0:0.0721	.	1903;1903	P08F94-2;P08F94	.;PKHD1_HUMAN	I	1903	ENSP00000360158:V1903I;ENSP00000341097:V1903I	ENSP00000341097:V1903I	V	-	1	0	PKHD1	51983110	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.119000	0.41958	1.335000	0.45486	0.557000	0.71058	GTC		0.393	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		6	37	0	0	0	0	6	37				
KIAA1919	91749	broad.mit.edu	37	6	111588141	111588141	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr6:111588141C>T	ENST00000368847.4	+	4	1729	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	459					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		ATGATTGAAACGAATGATACA	0.398																																						uc003puv.3		NA																	0				ovary(3)	3						c.(1375-1377)ACG>ATG		sodium-dependent glucose transporter 1							107.0	110.0	109.0					6																	111588141		2203	4300	6503	SO:0001583	missense	91749				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr6:111588141C>T	BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.1376C>T	6.37:g.111588141C>T	ENSP00000357840:p.Thr459Met						p.T459M	NM_153369	NP_699200	Q5TF39	NAGT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)	4	1798	+		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)	459			Cytoplasmic (Potential).		A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Missense_Mutation	SNP	ENST00000368847.4	37	c.1376C>T	CCDS5090.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.929063	0.00493	.	.	ENSG00000173214	ENST00000368847	T	0.35973	1.28	6.05	3.53	0.40419	.	0.129522	0.64402	N	0.000002	T	0.01940	0.0061	N	0.00182	-1.905	0.32057	N	0.596213	B	0.10296	0.003	B	0.01281	0.0	T	0.44236	-0.9341	10	0.02654	T	1	-9.6389	10.3359	0.43850	0.0:0.1335:0.0:0.8665	.	459	Q5TF39	NAGT1_HUMAN	M	459	ENSP00000357840:T459M	ENSP00000357840:T459M	T	+	2	0	KIAA1919	111694834	1.000000	0.71417	0.218000	0.23776	0.106000	0.19336	3.648000	0.54410	0.521000	0.28445	-0.311000	0.09066	ACG		0.398	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1	NM_153369		5	50	0	0	0	0	5	50				
EPDR1	54749	broad.mit.edu	37	7	37988474	37988474	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr7:37988474G>C	ENST00000199448.4	+	2	681	c.302G>C	c.(301-303)gGa>gCa	p.G101A	EPDR1_ENST00000476620.1_5'UTR|EPDR1_ENST00000425345.1_Missense_Mutation_p.G40A|EPDR1_ENST00000559325.1_Missense_Mutation_p.G221A|EPDR1_ENST00000423717.1_Intron	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	101					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						TATAAGGATGGAGTGATGTTT	0.423																																						uc003tfp.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(661-663)GGA>GCA		ependymin related protein 1 precursor							141.0	128.0	132.0					7																	37988474		2203	4300	6503	SO:0001583	missense	54749				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr7:37988474G>C	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.302G>C	7.37:g.37988474G>C	ENSP00000199448:p.Gly101Ala					EPDR1_uc003tfq.2_Intron|EPDR1_uc010kxh.2_Missense_Mutation_p.G40A	p.G221A	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN			2	681	+			101					A8K4C0|C9JYS3|Q06BL0|Q99M77	Missense_Mutation	SNP	ENST00000199448.4	37	c.662G>C	CCDS5454.2	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325717	0.41197	.	.	ENSG00000086289	ENST00000199448;ENST00000425345	.	.	.	5.24	3.15	0.36227	.	0.420992	0.25987	N	0.027033	T	0.38719	0.1051	L	0.37630	1.12	0.80722	D	1	B;P	0.37061	0.322;0.58	B;B	0.34536	0.11;0.185	T	0.35400	-0.9790	9	0.59425	D	0.04	-4.7712	8.6846	0.34229	0.0937:0.2933:0.6129:0.0	.	40;221	C9JYS3;A4D1W8	.;.	A	221;40	.	ENSP00000199448:G221A	G	+	2	0	EPDR1	37954999	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.008000	0.29872	1.281000	0.44480	0.655000	0.94253	GGA		0.423	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549		4	51	0	0	0	0	4	51				
ZNF716	441234	broad.mit.edu	37	7	57522286	57522286	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr7:57522286T>C	ENST00000420713.1	+	2	272	c.160T>C	c.(160-162)Tcc>Ccc	p.S54P		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	54	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						AAACCTGGTCTCCCTGGGTGA	0.368																																						uc011kdi.1		NA																	0				ovary(2)	2						c.(160-162)TCC>CCC		zinc finger protein 716							52.0	46.0	48.0					7																	57522286		692	1590	2282	SO:0001583	missense	441234							g.chr7:57522286T>C	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.160T>C	7.37:g.57522286T>C	ENSP00000394248:p.Ser54Pro						p.S54P	NM_001159279	NP_001152751					2	272	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.160T>C	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	T	5.915	0.352831	0.11182	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.03242	4.0	0.85	-1.7	0.08159	Krueppel-associated box (4);	.	.	.	.	T	0.22166	0.0534	H	0.99590	4.645	0.09310	N	1	D	0.58970	0.984	P	0.59288	0.855	T	0.11084	-1.0602	9	0.66056	D	0.02	.	1.975	0.03414	0.2676:0.2365:0.0:0.4959	.	42	A6NP11	ZN716_HUMAN	P	54;42	ENSP00000394248:S54P	ENSP00000387687:S42P	S	+	1	0	ZNF716	57526228	0.001000	0.12720	0.298000	0.25002	0.296000	0.27459	0.395000	0.20850	-1.008000	0.03404	-1.078000	0.02229	TCC		0.368	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		4	64	0	0	0	0	4	64				
LHFPL3	375612	broad.mit.edu	37	7	104377219	104377219	+	Silent	SNP	T	T	C			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr7:104377219T>C	ENST00000401970.2	+	2	623	c.501T>C	c.(499-501)ctT>ctC	p.L167L	LHFPL3_ENST00000543266.1_Silent_p.L181L|LHFPL3-AS1_ENST00000449764.1_RNA|LHFPL3_ENST00000535008.1_Silent_p.L181L|LHFPL3_ENST00000424859.1_Silent_p.L167L|LHFPL3-AS1_ENST00000433514.1_RNA			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	181						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)	9						AGTACACTCTTGGGGCTTGCT	0.473																																						uc003vce.2		NA																	0					0						c.(541-543)CTT>CTC		lipoma HMGIC fusion partner-like 3							89.0	89.0	89.0					7																	104377219		1960	4176	6136	SO:0001819	synonymous_variant	375612					integral to membrane		g.chr7:104377219T>C	AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"""lipoma HMGIC fusion partner-like 4"""	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000401970.2:c.501T>C	7.37:g.104377219T>C						LHFPL3_uc003vcf.2_Silent_p.L181L	p.L181L	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN			2	667	+			167					A1L383|A4D0Q5	Silent	SNP	ENST00000401970.2	37	c.543T>C																																																																																					0.473	LHFPL3-002	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000348284.1	NM_199000		7	25	0	0	0	0	7	25				
LRRN3	54674	broad.mit.edu	37	7	110764283	110764283	+	Silent	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr7:110764283C>T	ENST00000422987.3	+	2	2286	c.1455C>T	c.(1453-1455)ggC>ggT	p.G485G	LRRN3_ENST00000451085.1_Silent_p.G485G|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000308478.5_Silent_p.G485G|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000405709.2_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	485	Ig-like C2-type.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ATATAAATGGCGTAACTCCCA	0.408																																						uc003vft.3		NA																	0				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8						c.(1453-1455)GGC>GGT		leucine rich repeat neuronal 3 precursor							65.0	65.0	65.0					7																	110764283		2203	4300	6503	SO:0001819	synonymous_variant	54674					integral to membrane		g.chr7:110764283C>T	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1455C>T	7.37:g.110764283C>T						IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Silent_p.G485G|LRRN3_uc003vfs.3_Silent_p.G485G	p.G485G	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	2501	+			485			Extracellular (Potential).|Ig-like C2-type.		O43377|Q6I9V8|Q8IYQ6	Silent	SNP	ENST00000422987.3	37	c.1455C>T	CCDS5754.1																																																																																				0.408	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		8	71	0	0	0	0	8	71				
TAS2R60	338398	broad.mit.edu	37	7	143141158	143141158	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr7:143141158C>T	ENST00000332690.1	+	1	613	c.613C>T	c.(613-615)Ccc>Tcc	p.P205S	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	205					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TTGGACAATGCCCACTGCTGT	0.448																																						uc011ktg.1		NA																	0				skin(6)	6						c.(613-615)CCC>TCC		taste receptor, type 2, member 60							159.0	156.0	157.0					7																	143141158		2203	4300	6503	SO:0001583	missense	338398				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143141158C>T	AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.613C>T	7.37:g.143141158C>T	ENSP00000327724:p.Pro205Ser					uc003wda.2_Intron	p.P205S	NM_177437	NP_803186	P59551	T2R60_HUMAN			1	613	+	Melanoma(164;0.172)		205			Cytoplasmic (Potential).		A4D2G8|Q645W8|Q7RTR7	Missense_Mutation	SNP	ENST00000332690.1	37	c.613C>T	CCDS5885.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633100	0.67015	.	.	ENSG00000185899	ENST00000332690	T	0.55930	0.49	5.62	3.82	0.43975	.	0.000000	0.64402	U	0.000001	T	0.70552	0.3237	M	0.83312	2.635	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62421	-0.6858	10	0.87932	D	0	.	7.8696	0.29558	0.0:0.7516:0.1621:0.0863	.	205	P59551	T2R60_HUMAN	S	205	ENSP00000327724:P205S	ENSP00000327724:P205S	P	+	1	0	TAS2R60	142851280	0.002000	0.14202	0.003000	0.11579	0.434000	0.31775	1.185000	0.32065	0.723000	0.32274	0.591000	0.81541	CCC		0.448	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1			4	152	0	0	0	0	4	152				
TMEM176A	55365	broad.mit.edu	37	7	150500820	150500820	+	Missense_Mutation	SNP	G	G	A	rs368663573		TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr7:150500820G>A	ENST00000484928.1	+	5	1036	c.455G>A	c.(454-456)cGc>cAc	p.R152H	TMEM176A_ENST00000461345.1_Missense_Mutation_p.R93H|TMEM176B_ENST00000447204.2_5'Flank|TMEM176A_ENST00000004103.3_Missense_Mutation_p.R152H			Q96HP8	T176A_HUMAN	transmembrane protein 176A	152					negative regulation of dendritic cell differentiation (GO:2001199)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTGCCTGCCGCATCTCCAGC	0.512													A|||	1	0.000199681	0.0	0.0	5008	,	,		17785	0.001		0.0	False		,,,				2504	0.0					uc003whx.1		NA																	0				ovary(2)	2						c.(454-456)CGC>CAC		hepatocellular carcinoma-associated antigen 112							64.0	67.0	66.0					7																	150500820		2203	4300	6503	SO:0001583	missense	55365					integral to membrane		g.chr7:150500820G>A	AF258340	CCDS5909.1	7q36.1	2006-09-04			ENSG00000002933	ENSG00000002933			24930	protein-coding gene	gene with protein product		610334				12097419, 8889548	Standard	NM_018487		Approved	HCA112	uc003whx.1	Q96HP8	OTTHUMG00000158114	ENST00000484928.1:c.455G>A	7.37:g.150500820G>A	ENSP00000417626:p.Arg152His					TMEM176B_uc003whw.3_5'Flank	p.R152H	NM_018487	NP_060957	Q96HP8	T176A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	533	+			152					D3DX00|Q9NYC7	Missense_Mutation	SNP	ENST00000484928.1	37	c.455G>A	CCDS5909.1	.	.	.	.	.	.	.	.	.	.	A	5.445	0.267241	0.10294	.	.	ENSG00000002933	ENST00000484928;ENST00000004103;ENST00000461345;ENST00000475536;ENST00000468689	T;T;T;T;T	0.02472	4.3;4.3;4.3;4.3;4.28	3.56	-4.71	0.03279	.	3.585230	0.00754	N	0.001098	T	0.01905	0.0060	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44205	-0.9343	10	0.27082	T	0.32	-1.9238	8.8302	0.35080	0.2627:0.1512:0.5861:0.0	.	152	Q96HP8	T176A_HUMAN	H	152;152;93;104;93	ENSP00000417626:R152H;ENSP00000004103:R152H;ENSP00000420818:R93H;ENSP00000417834:R104H;ENSP00000420081:R93H	ENSP00000004103:R152H	R	+	2	0	TMEM176A	150131753	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.391000	0.02525	-1.546000	0.01717	-1.377000	0.01181	CGC		0.512	TMEM176A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350222.1	NM_018487		29	74	0	0	0	0	29	74				
KMT2C	58508	broad.mit.edu	37	7	151949691	151949691	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr7:151949691C>T	ENST00000262189.6	-	10	1627	c.1409G>A	c.(1408-1410)tGt>tAt	p.C470Y	KMT2C_ENST00000355193.2_Missense_Mutation_p.C470Y	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	470					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)										ACACTTCCCACAGAAGGGACA	0.388																																						uc003wla.2		NA								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(1408-1410)TGT>TAT		myeloid/lymphoid or mixed-lineage leukemia 3							133.0	114.0	121.0					7																	151949691		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151949691C>T	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.1409G>A	7.37:g.151949691C>T	ENSP00000262189:p.Cys470Tyr						p.C470Y	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	10	1628	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	470			DHHC-type.|PHD-type 3.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.1409G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.979885	0.53827	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.94687	-3.49;-3.49	6.03	6.03	0.97812	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, DHHC-type, palmitoyltransferase (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.50627	D	0.000102	D	0.97579	0.9207	M	0.84511	2.7	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	D	0.97558	1.0096	10	0.87932	D	0	.	20.5596	0.99324	0.0:1.0:0.0:0.0	.	470	Q8NEZ4	MLL3_HUMAN	Y	470	ENSP00000262189:C470Y;ENSP00000347325:C470Y	ENSP00000262189:C470Y	C	-	2	0	MLL3	151580624	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.860000	0.75473	2.868000	0.98415	0.555000	0.69702	TGT		0.388	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			5	26	0	0	0	0	5	26				
EXTL3	2137	broad.mit.edu	37	8	28573798	28573798	+	Silent	SNP	C	C	T	rs376405458		TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr8:28573798C>T	ENST00000220562.4	+	3	1124	c.222C>T	c.(220-222)tgC>tgT	p.C74C	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	74					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		ACGAGCTGTGCGAGGTGAAGC	0.602																																						uc003xgz.1		NA																	0				skin(2)	2						c.(220-222)TGC>TGT		exostoses-like 3		C		0,4406		0,0,2203	104.0	98.0	100.0		222	-7.2	0.4	8		100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	EXTL3	NM_001440.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		74/920	28573798	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28573798C>T	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.222C>T	8.37:g.28573798C>T							p.C74C	NM_001440	NP_001431	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	3	815	+		Ovarian(32;0.069)	74			Lumenal (Potential).		D3DST8|O00225|Q53XT3	Silent	SNP	ENST00000220562.4	37	c.222C>T	CCDS6070.1																																																																																				0.602	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		12	55	0	0	0	0	12	55				
UNC5D	137970	broad.mit.edu	37	8	35606140	35606140	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr8:35606140C>T	ENST00000404895.2	+	12	2190	c.1862C>T	c.(1861-1863)cCg>cTg	p.P621L	UNC5D_ENST00000416672.1_Missense_Mutation_p.P626L|UNC5D_ENST00000453357.2_Missense_Mutation_p.P616L|UNC5D_ENST00000287272.2_Missense_Mutation_p.P552L|UNC5D_ENST00000449677.1_Missense_Mutation_p.P197L|UNC5D_ENST00000420357.1_Missense_Mutation_p.P554L	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	621	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTGACCATCCCGCACTGTGCA	0.493																																						uc003xjr.1		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(1861-1863)CCG>CTG		unc-5 homolog D precursor							178.0	151.0	160.0					8																	35606140		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35606140C>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1862C>T	8.37:g.35606140C>T	ENSP00000385143:p.Pro621Leu					UNC5D_uc003xjs.1_Missense_Mutation_p.P616L|UNC5D_uc003xju.1_Missense_Mutation_p.P197L	p.P621L	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	12	2190	+			621			ZU5.|Cytoplasmic (Potential).		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.1862C>T	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018944	0.93404	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67	6.07	6.07	0.98685	ZU5 (2);	0.093635	0.85682	D	0.000000	T	0.59128	0.2171	M	0.68317	2.08	0.80722	D	1	D;P;D	0.59357	0.985;0.948;0.985	P;B;B	0.48873	0.593;0.254;0.37	T	0.60510	-0.7249	10	0.59425	D	0.04	-14.3557	20.6593	0.99626	0.0:1.0:0.0:0.0	.	197;616;621	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	L	621;554;552;626;616;197	ENSP00000385143:P621L;ENSP00000392739:P554L;ENSP00000287272:P552L;ENSP00000412652:P626L;ENSP00000394303:P616L;ENSP00000397211:P197L	ENSP00000287272:P552L	P	+	2	0	UNC5D	35725682	1.000000	0.71417	0.856000	0.33681	0.945000	0.59286	7.344000	0.79328	2.885000	0.99019	0.655000	0.94253	CCG		0.493	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			5	116	0	0	0	0	5	116				
OPRK1	4986	broad.mit.edu	37	8	54141973	54141973	+	Missense_Mutation	SNP	C	C	T	rs200385989		TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr8:54141973C>T	ENST00000265572.3	-	4	1324	c.1027G>A	c.(1027-1029)Gac>Aac	p.D343N	OPRK1_ENST00000520287.1_Missense_Mutation_p.D343N|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.D254N	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	343					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)	p.D343N(1)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	AAGCAGAAGTCCCGGAAACAC	0.493																																						uc003xrh.1		NA																	1	Substitution - Missense(1)		skin(1)	ovary(1)|skin(1)	2						c.(1027-1029)GAC>AAC		opioid receptor, kappa 1	Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	C	ASN/ASP	3,4403	6.2+/-15.9	0,3,2200	83.0	77.0	79.0		1027	5.8	1.0	8		79	0,8600		0,0,4300	no	missense	OPRK1	NM_000912.3	23	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	possibly-damaging	343/381	54141973	3,13003	2203	4300	6503	SO:0001583	missense	4986				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	g.chr8:54141973C>T		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.1027G>A	8.37:g.54141973C>T	ENSP00000265572:p.Asp343Asn					OPRK1_uc003xri.1_Missense_Mutation_p.D343N|OPRK1_uc010lyc.1_Missense_Mutation_p.D254N	p.D343N	NM_000912	NP_000903	P41145	OPRK_HUMAN			3	1402	-		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)	343			Cytoplasmic (Potential).		E5RHC9|Q499G4	Missense_Mutation	SNP	ENST00000265572.3	37	c.1027G>A	CCDS6152.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976345	0.74360	6.81E-4	0.0	ENSG00000082556	ENST00000265572;ENST00000524278;ENST00000520287;ENST00000396798	T;T;T	0.36520	1.25;1.25;1.25	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.46444	0.1393	M	0.77616	2.38	0.80722	D	1	P	0.45348	0.856	B	0.43225	0.412	T	0.40365	-0.9567	10	0.21540	T	0.41	.	20.051	0.97627	0.0:1.0:0.0:0.0	.	343	P41145	OPRK_HUMAN	N	343;254;343;329	ENSP00000265572:D343N;ENSP00000430923:D254N;ENSP00000429706:D343N	ENSP00000265572:D343N	D	-	1	0	OPRK1	54304526	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.760000	0.85248	2.740000	0.93945	0.650000	0.86243	GAC		0.493	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			6	59	0	0	0	0	6	59				
TOP1MT	116447	broad.mit.edu	37	8	144392336	144392336	+	Silent	SNP	C	C	T	rs188200124	byFrequency	TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr8:144392336C>T	ENST00000329245.4	-	13	1639	c.1605G>A	c.(1603-1605)gcG>gcA	p.A535A	TOP1MT_ENST00000521193.1_Silent_p.A437A|TOP1MT_ENST00000523676.1_Silent_p.A437A|TOP1MT_ENST00000519148.1_Silent_p.A437A	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	535					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CACTCAGCTGCGCCAGCTGCT	0.642													C|||	4	0.000798722	0.0008	0.0014	5008	,	,		17280	0.001		0.0	False		,,,				2504	0.001					uc003yxz.2		NA																	0				ovary(1)	1						c.(1603-1605)GCG>GCA		mitochondrial topoisomerase I precursor	Irinotecan(DB00762)|Topotecan(DB01030)	C		1,4405	2.1+/-5.4	0,1,2202	59.0	49.0	52.0		1605	-1.9	0.0	8		52	0,8600		0,0,4300	no	coding-synonymous	TOP1MT	NM_052963.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		535/602	144392336	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	116447				DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity	g.chr8:144392336C>T	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.1605G>A	8.37:g.144392336C>T						TOP1MT_uc011lkd.1_Silent_p.A437A|TOP1MT_uc011lke.1_Silent_p.A437A|TOP1MT_uc010mfb.2_Silent_p.A437A|TOP1MT_uc011lkf.1_Silent_p.A330A	p.A535A	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		13	1624	-	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		535					B7ZAR5|E7ES89|Q86ST4|Q86V82	Silent	SNP	ENST00000329245.4	37	c.1605G>A	CCDS6400.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	6.031	0.373997	0.11409	2.27E-4	0.0	ENSG00000184428	ENST00000519977	T	0.44482	0.92	3.97	-1.93	0.07594	.	1.983120	0.03285	U	0.186697	T	0.20941	0.0504	.	.	.	0.18873	N	0.999981	.	.	.	.	.	.	T	0.11567	-1.0582	7	0.11182	T	0.66	.	6.6181	0.22788	0.1163:0.3113:0.4922:0.0802	.	.	.	.	T	45	ENSP00000427925:A45T	ENSP00000427925:A45T	A	-	1	0	TOP1MT	144463711	0.097000	0.21791	0.000000	0.03702	0.107000	0.19398	0.626000	0.24492	-0.979000	0.03529	-1.318000	0.01297	GCA		0.642	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963		4	23	0	0	0	0	4	23				
SHARPIN	81858	broad.mit.edu	37	8	145154029	145154029	+	Silent	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr8:145154029G>A	ENST00000398712.2	-	7	1438	c.1002C>T	c.(1000-1002)ccC>ccT	p.P334P	SHARPIN_ENST00000533948.1_5'Flank	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	334					apoptotic nuclear changes (GO:0030262)|brain development (GO:0007420)|keratinization (GO:0031424)|mitochondrion organization (GO:0007005)|negative regulation of inflammatory response (GO:0050728)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein homooligomerization (GO:0051260)|protein linear polyubiquitination (GO:0097039)|regulation of CD40 signaling pathway (GO:2000348)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|LUBAC complex (GO:0071797)|postsynaptic density (GO:0014069)	polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGGGCCTGGGGGTAGCCCCA	0.662																																						uc003zba.2		NA																	0				ovary(1)	1						c.(1000-1002)CCC>CCT		shank-interacting protein-like 1							18.0	21.0	20.0					8																	145154029		1914	4118	6032	SO:0001819	synonymous_variant	81858				negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding	g.chr8:145154029G>A	AL136816	CCDS43777.1	8q24.3	2005-08-09				ENSG00000179526			25321	protein-coding gene	gene with protein product		611885				11178875, 12753155	Standard	NM_030974		Approved	DKFZP434N1923, SIPL1	uc003zba.3	Q9H0F6		ENST00000398712.2:c.1002C>T	8.37:g.145154029G>A						SHARPIN_uc003zbb.2_Intron	p.P334P	NM_030974	NP_112236	Q9H0F6	SHRPN_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		7	1486	-	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		334					A6NEG3|C0L3L2|D3DWL3|Q8IXF5|Q8IXF6|Q8N2E7|Q8TB25|Q9BUE4	Silent	SNP	ENST00000398712.2	37	c.1002C>T	CCDS43777.1																																																																																				0.662	SHARPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382901.1	NM_030974		3	41	0	0	0	0	3	41				
SLC52A2	79581	broad.mit.edu	37	8	145584283	145584283	+	Silent	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr8:145584283G>A	ENST00000532887.1	+	4	1618	c.1035G>A	c.(1033-1035)ctG>ctA	p.L345L	SLC52A2_ENST00000540505.1_Silent_p.L257L|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000527078.1_Silent_p.L345L|SLC52A2_ENST00000402965.1_Silent_p.L345L|SLC52A2_ENST00000329994.2_Silent_p.L345L|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000530047.1_Silent_p.L345L|FBXL6_ENST00000455319.2_5'Flank			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	345					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	TCTCTCTGCTGGGCGTGTTCT	0.692																																						uc003zcc.1		NA																	0					0						c.(1033-1035)CTG>CTA		G protein-coupled receptor 172A precursor							57.0	65.0	63.0					8																	145584283		2203	4300	6503	SO:0001819	synonymous_variant	79581					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr8:145584283G>A	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"""Solute carriers"""	30224	protein-coding gene	gene with protein product		607882	"""G protein-coupled receptor 172A"""	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.1035G>A	8.37:g.145584283G>A						FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Silent_p.L345L|GPR172A_uc003zce.1_Silent_p.L345L|GPR172A_uc010mfy.1_Silent_p.L345L|GPR172A_uc003zcf.1_Silent_p.L345L|GPR172A_uc011llc.1_Silent_p.L257L	p.L345L	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		4	1192	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		345			Helical; (Potential).		A8K6B6|D3DWL8|G1UCY1|Q86UT1	Silent	SNP	ENST00000532887.1	37	c.1035G>A	CCDS6423.1																																																																																				0.692	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		24	112	0	0	0	0	24	112				
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1459	Whole gene deletion(1316)|Substitution - Nonsense(78)|Unknown(45)|Deletion - Frameshift(10)|Deletion - In frame(4)|Substitution - Missense(3)|Insertion - Frameshift(1)|Substitution - coding silent(1)|Complex - compound substitution(1)	p.0?(1112)|p.R58*(68)|p.?(14)|p.M53_R58del(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*89(1)|p.R58R(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.R58fs*61(1)|p.R58fs*62(1)|p.G55fs*86(1)|p.R58Q(1)|p.P113L(1)|p.A57fs*85(1)	haematopoietic_and_lymphoid_tissue(284)|skin(201)|central_nervous_system(167)|lung(154)|urinary_tract(94)|upper_aerodigestive_tract(78)|bone(74)|oesophagus(65)|soft_tissue(58)|pleura(51)|ovary(38)|pancreas(37)|kidney(32)|breast(32)|stomach(14)|thyroid(13)|NS(12)|biliary_tract(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|endometrium(3)|vulva(2)|prostate(2)|cervix(1)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM940227	CDKN2A	M	rs121913387	c.(172-174)CGA>TGA		cyclin-dependent kinase inhibitor 2A isoform 1							7.0	9.0	8.0					9																	21971186		2034	4092	6126	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971186G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.172C>T	9.37:g.21971186G>A	ENSP00000307101:p.Arg58*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P113L	p.R58*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	384	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	58			ANK 2.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.172C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.893482|4.893482	0.91889|0.91889	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|.	0.75367|.	-0.93;-0.89|.	5.79|5.79	2.71|2.71	0.32032|0.32032	.|.	0.409080|.	0.18162|.	N|.	0.149742|.	T|.	0.29288|.	0.0729|.	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	P|.	0.44006|.	0.824|.	B|.	0.33121|.	0.158|.	T|.	0.21381|.	-1.0247|.	10|.	0.72032|0.13470	D|T	0.01|0.59	-3.0019|-3.0019	9.6681|9.6681	0.39996|0.39996	0.0:0.1288:0.474:0.3972|0.0:0.1288:0.474:0.3972	.|.	113|.	Q8N726|.	CD2A2_HUMAN|.	L|X	113;72|58	ENSP00000355153:P113L;ENSP00000432664:P72L|.	ENSP00000355153:P113L|ENSP00000307101:R58X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961186|21961186	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.277000|0.277000	0.26821|0.26821	0.096000|0.096000	0.15147|0.15147	0.738000|0.738000	0.32606|0.32606	0.555000|0.555000	0.69702|0.69702	CCG|CGA		0.677	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		4	14	0	0	0	0	4	14				
KLF9	687	broad.mit.edu	37	9	73002724	73002724	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr9:73002724G>A	ENST00000377126.2	-	2	1963	c.703C>T	c.(703-705)Cga>Tga	p.R235*		NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN	Kruppel-like factor 9	235					cellular response to thyroid hormone stimulus (GO:0097067)|embryo implantation (GO:0007566)|progesterone receptor signaling pathway (GO:0050847)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						TTTTTCGATCGCTTGATCATG	0.597																																						uc004aht.2		NA																	0					0						c.(703-705)CGA>TGA		Kruppel-like factor 9							68.0	67.0	67.0					9																	73002724		2203	4300	6503	SO:0001587	stop_gained	687				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:73002724G>A	BC069431	CCDS6633.1	9q21.11	2013-01-08	2004-11-29	2004-12-01	ENSG00000119138	ENSG00000119138		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	1123	protein-coding gene	gene with protein product		602902	"""basic transcription element binding protein 1"""	BTEB1		1356762	Standard	NM_001206		Approved		uc004aht.3	Q13886	OTTHUMG00000019991	ENST00000377126.2:c.703C>T	9.37:g.73002724G>A	ENSP00000366330:p.Arg235*						p.R235*	NM_001206	NP_001197	Q13886	KLF9_HUMAN			2	1997	-			235					B2R943|Q16196	Nonsense_Mutation	SNP	ENST00000377126.2	37	c.703C>T	CCDS6633.1	.	.	.	.	.	.	.	.	.	.	G	47	13.558221	0.99749	.	.	ENSG00000119138	ENST00000377126	.	.	.	5.47	3.49	0.39957	.	0.113379	0.34959	N	0.003560	.	.	.	.	.	.	0.37260	D	0.906922	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0743	0.64880	0.0:0.0:0.4758:0.5242	.	.	.	.	X	235	.	ENSP00000366330:R235X	R	-	1	2	KLF9	72192544	0.741000	0.28217	0.983000	0.44433	0.992000	0.81027	-0.250000	0.08830	1.223000	0.43536	0.655000	0.94253	CGA		0.597	KLF9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052602.1	NM_001206		14	69	0	0	0	0	14	69				
PTPDC1	138639	broad.mit.edu	37	9	96863938	96863938	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr9:96863938G>A	ENST00000375360.3	+	8	2282	c.1942G>A	c.(1942-1944)Gag>Aag	p.E648K	PTPDC1_ENST00000467049.1_3'UTR|PTPDC1_ENST00000288976.3_Missense_Mutation_p.E700K	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	648					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						GTCTTGGGTGGAGCAACTGAA	0.463																																						uc004auf.1		NA																	0				ovary(1)	1						c.(1942-1944)GAG>AAG		protein tyrosine phosphatase domain containing 1							175.0	166.0	169.0					9																	96863938		2203	4300	6503	SO:0001583	missense	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96863938G>A	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.1942G>A	9.37:g.96863938G>A	ENSP00000364509:p.Glu648Lys					PTPDC1_uc004aug.1_Missense_Mutation_p.E643K|PTPDC1_uc004auh.1_Missense_Mutation_p.E700K|PTPDC1_uc010mrj.1_Missense_Mutation_p.E702K	p.E648K	NM_177995	NP_818931	A2A3K4	PTPC1_HUMAN			8	2282	+			648					Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	c.1942G>A	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	G	36	5.664663	0.96745	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.18960	2.18;2.18	5.6	5.6	0.85130	.	0.092962	0.64402	D	0.000001	T	0.50292	0.1607	M	0.79475	2.455	0.54753	D	0.999986	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77557	0.977;0.99;0.977;0.977	T	0.51872	-0.8650	10	0.72032	D	0.01	-19.1358	18.6106	0.91284	0.0:0.0:1.0:0.0	.	702;700;702;648	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	K	648;700	ENSP00000364509:E648K;ENSP00000288976:E700K	ENSP00000288976:E700K	E	+	1	0	PTPDC1	95903759	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.895000	0.92512	2.630000	0.89119	0.655000	0.94253	GAG		0.463	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		14	88	0	0	0	0	14	88				
ASTN2	23245	broad.mit.edu	37	9	119903652	119903652	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr9:119903652A>G	ENST00000313400.4	-	4	1221	c.1121T>C	c.(1120-1122)cTg>cCg	p.L374P	ASTN2_ENST00000373996.3_Missense_Mutation_p.L374P|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron			O75129	ASTN2_HUMAN	astrotactin 2	374					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TGTGCTGCGCAGGGGTGGTTG	0.592																																						uc004bjs.1		NA																	0				skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(1120-1122)CTG>CCG		astrotactin 2 isoform c							102.0	81.0	88.0					9																	119903652		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119903652A>G	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1121T>C	9.37:g.119903652A>G	ENSP00000314038:p.Leu374Pro					ASTN2_uc004bjr.1_Missense_Mutation_p.L374P|ASTN2_uc004bjt.1_Intron	p.L374P	NM_198187	NP_937830	O75129	ASTN2_HUMAN			4	1222	-			374			Cytoplasmic (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.1121T>C		.	.	.	.	.	.	.	.	.	.	A	7.958	0.746396	0.15710	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986	T;T;T	0.14893	2.68;2.68;2.47	5.06	2.92	0.33932	.	0.578165	0.17053	N	0.188851	T	0.32376	0.0827	.	.	.	0.32890	D	0.511679	B;D	0.89917	0.0;1.0	B;D	0.79108	0.0;0.992	T	0.41197	-0.9522	8	.	.	.	-0.8704	3.9309	0.09285	0.4815:0.0:0.5185:0.0	.	374;374	O75129;O75129-3	ASTN2_HUMAN;.	P	374;374;101	ENSP00000314038:L374P;ENSP00000363108:L374P;ENSP00000363098:L101P	.	L	-	2	0	ASTN2	118943473	0.548000	0.26473	0.506000	0.27664	0.210000	0.24377	1.378000	0.34328	1.099000	0.41499	-0.479000	0.04858	CTG		0.592	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		3	49	0	0	0	0	3	49				
USP9X	8239	broad.mit.edu	37	X	41077799	41077799	+	Silent	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chrX:41077799G>A	ENST00000324545.8	+	37	7017	c.6384G>A	c.(6382-6384)ttG>ttA	p.L2128L	USP9X_ENST00000378308.2_Silent_p.L2128L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2128					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATTTTTCCTTGCAAGATGGGC	0.413																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.2		NA																	0				lung(3)|breast(2)|ovary(1)	6						c.(6382-6384)TTG>TTA		ubiquitin specific protease 9, X-linked isoform							226.0	190.0	203.0					X																	41077799		2203	4300	6503	SO:0001819	synonymous_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41077799G>A	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.6384G>A	X.37:g.41077799G>A						USP9X_uc004dfc.2_Silent_p.L2128L	p.L2128L	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			37	7017	+			2128					O75550|Q8WWT3|Q8WX12	Silent	SNP	ENST00000324545.8	37	c.6384G>A	CCDS43930.1																																																																																				0.413	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		37	44	0	0	0	0	37	44				
OGT	8473	broad.mit.edu	37	X	70776891	70776891	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chrX:70776891C>T	ENST00000373719.3	+	10	1473	c.1256C>T	c.(1255-1257)aCg>aTg	p.T419M	OGT_ENST00000373701.3_Missense_Mutation_p.T409M	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	419					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CAGTGTTATACGCGTGCCATC	0.403																																						uc004eaa.1		NA																	0				ovary(3)|kidney(1)|pancreas(1)	5						c.(1255-1257)ACG>ATG		O-linked GlcNAc transferase isoform 1							99.0	78.0	85.0					X																	70776891		2203	4300	6503	SO:0001583	missense	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70776891C>T	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.1256C>T	X.37:g.70776891C>T	ENSP00000362824:p.Thr419Met					BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Missense_Mutation_p.T409M|OGT_uc004eac.2_Missense_Mutation_p.T280M|OGT_uc004ead.2_Missense_Mutation_p.T38M	p.T419M	NM_181672	NP_858058	O15294	OGT1_HUMAN			10	1473	+	Renal(35;0.156)		419			TPR 11.		Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	c.1256C>T	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247108	0.80024	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.61627	0.09;0.09	5.54	5.54	0.83059	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.66799	0.2826	L	0.31294	0.92	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.73380	0.924;0.974;0.98	T	0.66428	-0.5926	10	0.44086	T	0.13	-11.3367	18.4676	0.90761	0.0:1.0:0.0:0.0	.	293;409;419	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	M	419;409	ENSP00000362824:T419M;ENSP00000362805:T409M	ENSP00000362805:T409M	T	+	2	0	OGT	70693616	1.000000	0.71417	0.942000	0.38095	0.988000	0.76386	7.594000	0.82698	2.557000	0.86248	0.594000	0.82650	ACG		0.403	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		3	17	0	0	0	0	3	17				
ATRX	546	broad.mit.edu	37	X	76937546	76937546	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chrX:76937546T>C	ENST00000373344.5	-	9	3416	c.3202A>G	c.(3202-3204)Aca>Gca	p.T1068A	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.T1030A	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1068					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CCTTTCCCTGTTGACTTCTCA	0.338			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3		NA		Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		1	Unknown(1)		bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(3202-3204)ACA>GCA		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						129.0	144.0	139.0					X																	76937546		2203	4290	6493	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937546T>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3202A>G	X.37:g.76937546T>C	ENSP00000362441:p.Thr1068Ala					ATRX_uc004ecq.3_Missense_Mutation_p.T1030A|ATRX_uc004eco.3_Missense_Mutation_p.T853A|ATRX_uc004ecr.2_Missense_Mutation_p.T1000A|ATRX_uc010nlx.1_Missense_Mutation_p.T1039A|ATRX_uc010nly.1_Missense_Mutation_p.T1013A	p.T1068A	NM_000489	NP_000480	P46100	ATRX_HUMAN			9	3434	-			1068					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.3202A>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	2.230	-0.376435	0.05000	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.91686	-2.88;-2.89	5.56	0.468	0.16732	.	1.213670	0.05717	N	0.597086	T	0.80849	0.4702	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.15930	0.001;0.015;0.0;0.001	B;B;B;B	0.11329	0.001;0.006;0.001;0.001	T	0.67929	-0.5543	10	0.06625	T	0.88	1.2123	3.8141	0.08808	0.3179:0.0:0.3985:0.2836	.	1068;1000;1030;1068	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	A	1068;1030;995	ENSP00000362441:T1068A;ENSP00000378967:T1030A	ENSP00000362441:T1068A	T	-	1	0	ATRX	76824202	0.008000	0.16893	0.007000	0.13788	0.648000	0.38561	0.058000	0.14301	0.153000	0.19213	-0.483000	0.04790	ACA		0.338	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		32	151	0	0	0	0	32	151				
SPTBN4	57731	broad.mit.edu	37	19	41073713	41073714	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr19:41073713_41073714insC	ENST00000352632.3	+	31	6567_6568	c.6481_6482insC	c.(6481-6483)gccfs	p.A2161fs	SPTBN4_ENST00000598249.1_Frame_Shift_Ins_p.A2161fs|SPTBN4_ENST00000392025.1_Frame_Shift_Ins_p.A904fs			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2161					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGAGCCCCTGGCCCGCCGAGCC	0.718																																						uc002ony.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(6481-6483)GCCfs		spectrin, beta, non-erythrocytic 4 isoform																																				SO:0001589	frameshift_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41073713_41073714insC	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.6484dupC	19.37:g.41073716_41073716dupC	ENSP00000263373:p.Ala2161fs					SPTBN4_uc002onz.2_Frame_Shift_Ins_p.A2161fs|SPTBN4_uc010egx.2_Frame_Shift_Ins_p.A904fs	p.A2161fs	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		31	6567_6568	+			2161					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Frame_Shift_Ins	INS	ENST00000352632.3	37	c.6481_6482insC	CCDS12559.1																																																																																				0.718	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			2	4	NA	NA	NA	NA	2	4	---	---	---	---
TIMD4	91937	broad.mit.edu	37	5	156378745	156378747	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr5:156378745_156378747delTTG	ENST00000274532.2	-	3	511_513	c.455_457delCAA	c.(454-459)acaagc>agc	p.T152del	TIMD4_ENST00000407087.3_In_Frame_Del_p.T152del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	152	Thr-rich.					integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTGGGGCTTGTTGTTGTTGT	0.537																																						uc003lwh.2		NA																	0				ovary(2)	2						c.(454-459)ACAAGC>AGC		T-cell immunoglobulin and mucin domain																																				SO:0001651	inframe_deletion	91937					integral to membrane		g.chr5:156378745_156378747delTTG	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.455_457delCAA	5.37:g.156378754_156378756delTTG	ENSP00000274532:p.Thr152del					TIMD4_uc010jii.2_In_Frame_Del_p.T152del	p.T152del	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	512_514	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	152			Extracellular (Potential).|Thr-rich.		B5MCL9	In_Frame_Del	DEL	ENST00000274532.2	37	c.455_457delCAA	CCDS4332.1																																																																																				0.537	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		7	481	NA	NA	NA	NA	7	481	---	---	---	---
CNPY3	10695	broad.mit.edu	37	6	42897358	42897360	+	In_Frame_Del	DEL	TGC	TGC	-	rs570105218	byFrequency	TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr6:42897358_42897360delTGC	ENST00000372836.4	+	1	421_423	c.50_52delTGC	c.(49-54)ttgctg>ttg	p.17_18LL>L	CNPY3_ENST00000394142.3_In_Frame_Del_p.17_18LL>L	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	17					innate immune response (GO:0045087)|toll-like receptor signaling pathway (GO:0002224)	endoplasmic reticulum lumen (GO:0005788)		p.L25delL(1)		central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTTCTTCCCTtgctgctgctgct	0.695																																						uc003ota.3		NA																	1	Deletion - In frame(1)		central_nervous_system(1)	ovary(1)	1						c.(49-54)TTGCTG>TTG		trinucleotide repeat containing 5 precursor																																				SO:0001651	inframe_deletion	10695				innate immune response	endoplasmic reticulum		g.chr6:42897358_42897360delTGC	U80744	CCDS4875.1	6p21.1	2013-09-19	2013-07-23	2007-10-22	ENSG00000137161	ENSG00000137161		"""Trinucleotide (CAG) repeat containing"""	11968	protein-coding gene	gene with protein product		610774	"""trinucleotide repeat containing 5"", ""canopy 3 homolog (zebrafish)"""	TNRC5		9225980	Standard	NM_006586		Approved	CAG4A	uc003ota.4	Q9BT09	OTTHUMG00000014708	ENST00000372836.4:c.50_52delTGC	6.37:g.42897367_42897369delTGC	ENSP00000361926:p.Leu25del					CNPY3_uc003osy.2_RNA|CNPY3_uc003osz.2_In_Frame_Del_p.17_18LL>L|CNPY3_uc003otc.3_5'UTR|CNPY3_uc003otb.3_5'UTR	p.17_18LL>L	NM_006586	NP_006577	Q9BT09	CNPY3_HUMAN	all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)		1	499_501	+	Colorectal(47;0.196)		17_18					O15412|Q0P6I2|Q8NF54|Q8WTU8|Q9P0F2	In_Frame_Del	DEL	ENST00000372836.4	37	c.50_52delTGC	CCDS4875.1																																																																																				0.695	CNPY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040564.1	NM_006586		3	5	NA	NA	NA	NA	3	5	---	---	---	---
