#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	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		6	204	0	0	0	1	0	6	204				
KRTAP4-11	653240	broad.mit.edu	37	17	39274170	39274170	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr17:39274170G>T	ENST00000391413.2	-	1	436	c.398C>A	c.(397-399)aCc>aAc	p.T133N		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	133	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gtggcagcaggtgggctggca	0.672																																						ENST00000391413.2																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(397-399)aCc>aAc		keratin associated protein 4-11							7.0	13.0	11.0					17																	39274170		677	1579	2256	SO:0001583	missense	653240					keratin filament		g.chr17:39274170G>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.398C>A	17.37:g.39274170G>T	ENSP00000375232:p.Thr133Asn						p.T133N	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	436	-		Breast(137;0.000496)	133			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.398C>A	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	16.39	3.108575	0.56291	.	.	ENSG00000212721	ENST00000391413	T	0.01464	4.86	4.58	1.2	0.21068	.	2.577010	0.03019	U	0.150524	T	0.05135	0.0137	M	0.93062	3.375	0.09310	N	1	B	0.33413	0.411	B	0.32022	0.139	T	0.48692	-0.9013	10	0.48119	T	0.1	.	2.0576	0.03585	0.1147:0.2125:0.4176:0.2553	.	133	Q9BYQ6	KR411_HUMAN	N	133	ENSP00000375232:T133N	ENSP00000375232:T133N	T	-	2	0	KRTAP4-11	36527696	0.000000	0.05858	0.916000	0.36221	0.959000	0.62525	-4.569000	0.00214	0.919000	0.36945	0.514000	0.50259	ACC		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			4	70	1	0	0.00909568	1	0.0093531	4	70				
ZP1	22917	broad.mit.edu	37	11	60637224	60637224	+	Missense_Mutation	SNP	C	C	T	rs138582317		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr11:60637224C>T	ENST00000278853.5	+	3	533	c.533C>T	c.(532-534)gCc>gTc	p.A178V		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	178					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCTGGCCATGCCTTTCCCAGC	0.632																																						ENST00000278853.5																			0				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(532-534)gCc>gTc		zona pellucida glycoprotein 1 (sperm receptor)							72.0	77.0	75.0					11																	60637224		2203	4299	6502	SO:0001583	missense	22917				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:60637224C>T	BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.533C>T	11.37:g.60637224C>T	ENSP00000278853:p.Ala178Val						p.A178V	NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN			3	533	+			178						Missense_Mutation	SNP	ENST00000278853.5	37	c.533C>T	CCDS31572.1	.	.	.	.	.	.	.	.	.	.	C	9.452	1.090860	0.20471	.	.	ENSG00000149506	ENST00000278853	T	0.24151	1.87	2.73	2.73	0.32206	.	1.329580	0.05782	U	0.608791	T	0.12008	0.0292	N	0.08118	0	0.09310	N	1	P	0.36909	0.573	B	0.20767	0.031	T	0.15235	-1.0444	10	0.39692	T	0.17	-3.7245	9.1737	0.37098	0.0:1.0:0.0:0.0	.	178	P60852	ZP1_HUMAN	V	178	ENSP00000278853:A178V	ENSP00000278853:A178V	A	+	2	0	ZP1	60393800	0.007000	0.16637	0.003000	0.11579	0.059000	0.15707	0.298000	0.19120	1.194000	0.43101	0.460000	0.39030	GCC		0.632	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341		51	7	0	0	0	1	0	51	7				
RPLP0	6175	broad.mit.edu	37	12	120637130	120637130	+	Silent	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr12:120637130G>A	ENST00000551150.1	-	2	528	c.213C>T	c.(211-213)aaC>aaT	p.N71N	PXN-AS1_ENST00000542265.1_RNA|PXN-AS1_ENST00000539446.1_RNA|RPLP0_ENST00000550296.1_5'UTR|RPLP0_ENST00000313104.5_Silent_p.N71N|PXN-AS1_ENST00000538804.1_RNA|RPLP0_ENST00000392514.4_Silent_p.N71N|RPLP0_ENST00000552292.1_5'Flank|RPLP0_ENST00000546989.1_Silent_p.N71N|PXN-AS1_ENST00000542314.1_RNA|RPLP0_ENST00000228306.4_Silent_p.N71N|PXN-AS1_ENST00000535200.1_RNA			P05388	RLA0_HUMAN	ribosomal protein, large, P0	71					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAGCTGGGTTGTTTTCCAGGT	0.567																																						ENST00000551150.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15						c.(211-213)aaC>aaT		ribosomal protein, large, P0							115.0	116.0	116.0					12																	120637130		2203	4300	6503	SO:0001819	synonymous_variant	6175				endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome	g.chr12:120637130G>A	AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"""L ribosomal proteins"""	10371	protein-coding gene	gene with protein product	"""acidic ribosomal phosphoprotein P0"""	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.213C>T	12.37:g.120637130G>A						RPLP0_ENST00000228306.4_Silent_p.N71N|RPLP0_ENST00000546989.1_Silent_p.N71N|RPLP0_ENST00000550296.1_5'UTR|RPLP0_ENST00000313104.5_Silent_p.N71N|RPLP0_ENST00000392514.4_Silent_p.N71N	p.N71N			P05388	RLA0_HUMAN			2	528	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		71					Q3B7A4|Q9BVK4	Silent	SNP	ENST00000551150.1	37	c.213C>T	CCDS9193.1																																																																																				0.567	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403448.3	NM_053275		51	101	0	0	0	1	0	51	101				
PRAMEF17	391004	broad.mit.edu	37	1	13716936	13716936	+	Silent	SNP	G	G	A	rs374222074		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:13716936G>A	ENST00000376098.4	+	2	449	c.423G>A	c.(421-423)acG>acA	p.T141T		NM_001099851.1	NP_001093321.1	Q5VTA0	PRA17_HUMAN	PRAME family member 17	141					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					kidney(1)|lung(2)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATCCAAGGACGGGAGAGCACC	0.532																																						ENST00000376098.4																			0				kidney(1)|lung(2)	3						c.(421-423)acG>acA		PRAME family member 17		G		2,4322		0,2,2160	98.0	116.0	110.0		423	-2.2	0.0	1		110	0,8508		0,0,4254	no	coding-synonymous	PRAMEF17	NM_001099851.1		0,2,6414	AA,AG,GG		0.0,0.0463,0.0156		141/475	13716936	2,12830	2162	4254	6416	SO:0001819	synonymous_variant	391004							g.chr1:13716936G>A		CCDS41264.1	1p36.21	2013-01-17			ENSG00000204479	ENSG00000204479		"""-"""	29485	protein-coding gene	gene with protein product							Standard	NM_001099851		Approved	OTTHUMG00000007909	uc009vnz.1	Q5VTA0	OTTHUMG00000007909	ENST00000376098.4:c.423G>A	1.37:g.13716936G>A							p.T141T	NM_001099851.1	NP_001093321.1	Q5VTA0	PRA17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	449	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	141					B2RUU4	Silent	SNP	ENST00000376098.4	37	c.423G>A	CCDS41264.1																																																																																				0.532	PRAMEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021780.2	NM_001099851		8	306	0	0	0	1	0	8	306				
LHX8	431707	broad.mit.edu	37	1	75608914	75608914	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:75608914C>A	ENST00000294638.5	+	6	1165	c.501C>A	c.(499-501)tgC>tgA	p.C167*	LHX8_ENST00000356261.3_Nonsense_Mutation_p.C157*	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	167	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						GCTTTTCCTGCAAAAGGCAAC	0.478																																						ENST00000294638.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						c.(499-501)tgC>tgA		LIM homeobox 8							104.0	99.0	101.0					1																	75608914		2203	4299	6502	SO:0001587	stop_gained	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75608914C>A	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.501C>A	1.37:g.75608914C>A	ENSP00000294638:p.Cys167*					LHX8_ENST00000356261.3_Nonsense_Mutation_p.C157*	p.C167*	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN			6	1165	+			167			LIM zinc-binding 2.		E9PGE3	Nonsense_Mutation	SNP	ENST00000294638.5	37	c.501C>A	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	C	36	5.812632	0.96975	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	.	.	.	5.3	4.38	0.52667	.	0.084446	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1202	0.65182	0.0:0.9273:0.0:0.0727	.	.	.	.	X	167;157	.	ENSP00000294638:C167X	C	+	3	2	LHX8	75381502	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.099000	0.50267	1.375000	0.46248	0.650000	0.86243	TGC		0.478	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		4	89	1	0	0.00024832	1	0.000260258	4	89				
SQSTM1	8878	broad.mit.edu	37	5	179263548	179263548	+	Silent	SNP	G	G	A	rs143977783		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr5:179263548G>A	ENST00000389805.4	+	8	1456	c.1278G>A	c.(1276-1278)gcG>gcA	p.A426A	C5orf45_ENST00000523267.1_5'Flank|C5orf45_ENST00000403396.2_3'UTR|SQSTM1_ENST00000376929.3_Silent_p.A342A|SQSTM1_ENST00000510187.1_Missense_Mutation_p.R343Q|SQSTM1_ENST00000360718.5_Silent_p.A342A|SQSTM1_ENST00000402874.3_Silent_p.A342A	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	426	Interaction with NTRK1. {ECO:0000250}.|UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACATCGGAGCGGCTCTGGACA	0.557																																						ENST00000510187.1																		SQSTM1/ALK(2)	0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13						c.(1027-1029)cGg>cAg		sequestosome 1		G	,,	0,4406		0,0,2203	157.0	144.0	148.0		1026,1026,1278	-7.8	1.0	5	dbSNP_134	148	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	SQSTM1	NM_001142298.1,NM_001142299.1,NM_003900.4	,,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,,	342/357,342/357,426/441	179263548	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	8878				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding	g.chr5:179263548G>A	U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"""Paget disease of bone 3"", ""oxidative stress induced like"""	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.1278G>A	5.37:g.179263548G>A						SQSTM1_ENST00000402874.3_Silent_p.A342A|SQSTM1_ENST00000389805.4_Silent_p.A426A|C5orf45_ENST00000403396.2_3'UTR|SQSTM1_ENST00000360718.5_Silent_p.A342A|SQSTM1_ENST00000376929.3_Silent_p.A342A	p.R343Q			Q13501	SQSTM_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	1044	+	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	0			Interaction with NTRK1 (By similarity).		A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Missense_Mutation	SNP	ENST00000389805.4	37	c.1028G>A	CCDS34317.1	.	.	.	.	.	.	.	.	.	.	G	5.551	0.286616	0.10513	0.0	3.49E-4	ENSG00000161011	ENST00000510187	T	0.20881	2.04	4.53	-7.77	0.01227	.	.	.	.	.	T	0.10035	0.0246	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31392	-0.9945	8	0.59425	D	0.04	-10.1183	0.5335	0.00633	0.3262:0.1385:0.2571:0.2782	.	343	E7EMC7	.	Q	343	ENSP00000424477:R343Q	ENSP00000424477:R343Q	R	+	2	0	SQSTM1	179196154	0.001000	0.12720	0.956000	0.39512	0.180000	0.23129	-1.698000	0.01908	-0.992000	0.03472	-1.516000	0.00938	CGG		0.557	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319344.1			8	186	0	0	0	1	0	8	186				
TTN	7273	broad.mit.edu	37	2	179569235	179569235	+	Splice_Site	SNP	A	A	G			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr2:179569235A>G	ENST00000591111.1	-	103	29236		c.e103+1		TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Splice_Site|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTAACTTACCAATTACAG	0.378																																						ENST00000589042.1																			0				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						c.e105+1		titin							86.0	81.0	82.0					2																	179569235		1892	4118	6010	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179569235A>G	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.29011+1T>C	2.37:g.179569235A>G						TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Splice_Site		NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		105	30187	-								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	Splice_Site	SNP	ENST00000591111.1	37			.	.	.	.	.	.	.	.	.	.	A	23.8	4.463832	0.84425	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4943	0.84223	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179277480	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.339000	0.96797	2.291000	0.77112	0.533000	0.62120	.		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Intron	30	39	0	0	0	1	0	30	39				
RTF1	23168	broad.mit.edu	37	15	41772461	41772461	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr15:41772461C>T	ENST00000389629.4	+	17	1976	c.1964C>T	c.(1963-1965)tCa>tTa	p.S655L		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	655					DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		AGTGACCTCTCAGAAGATCTG	0.448																																						ENST00000389629.4																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18						c.(1963-1965)tCa>tTa		Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)							94.0	86.0	89.0					15																	41772461		2203	4300	6503	SO:0001583	missense	23168				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	g.chr15:41772461C>T	D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.1964C>T	15.37:g.41772461C>T	ENSP00000374280:p.Ser655Leu						p.S655L	NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)	17	1976	+		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	655					Q96BX6	Missense_Mutation	SNP	ENST00000389629.4	37	c.1964C>T	CCDS32200.2	.	.	.	.	.	.	.	.	.	.	C	35	5.423862	0.96111	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.72104	0.3419	L	0.50333	1.59	0.80722	D	1	D	0.54601	0.967	P	0.60789	0.879	T	0.68221	-0.5466	9	0.27785	T	0.31	-5.8076	18.6447	0.91407	0.0:1.0:0.0:0.0	.	655	Q92541	RTF1_HUMAN	L	655	.	ENSP00000374280:S655L	S	+	2	0	RTF1	39559753	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.625000	0.83145	2.392000	0.81423	0.563000	0.77884	TCA		0.448	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		49	67	0	0	0	1	0	49	67				
GRM3	2913	broad.mit.edu	37	7	86415593	86415593	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr7:86415593G>A	ENST00000361669.2	+	3	1584	c.485G>A	c.(484-486)cGg>cAg	p.R162Q	AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.R160Q|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.R34Q|GRM3_ENST00000439827.1_Missense_Mutation_p.R162Q	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	162					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					AACCTGCTGCGGCTCTTCCAG	0.522																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(484-486)cGg>cAg		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						151.0	163.0	159.0					7																	86415593		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	integral to plasma membrane		g.chr7:86415593G>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.485G>A	7.37:g.86415593G>A	ENSP00000355316:p.Arg162Gln					AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.R34Q|GRM3_ENST00000394720.2_Missense_Mutation_p.R160Q|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.R162Q	p.R162Q	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			3	1584	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		162					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.485G>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.510994	0.85389	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	5.68	5.68	0.88126	GPCR, family 3, conserved site (1);Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89438	0.6715	L	0.55103	1.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.997	D	0.88183	0.2872	10	0.42905	T	0.14	.	18.7805	0.91930	0.0:0.0:1.0:0.0	.	34;162;162	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	Q	162;34;34;162;160	ENSP00000355316:R162Q;ENSP00000405427:R34Q;ENSP00000441407:R34Q;ENSP00000398767:R162Q;ENSP00000378209:R160Q	ENSP00000355316:R162Q	R	+	2	0	GRM3	86253529	1.000000	0.71417	0.493000	0.27502	0.959000	0.62525	9.725000	0.98778	2.693000	0.91896	0.655000	0.94253	CGG		0.522	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			158	37	0	0	0	1	0	158	37				
ADAMTS16	170690	broad.mit.edu	37	5	5262848	5262848	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr5:5262848G>A	ENST00000274181.7	+	18	2879	c.2741G>A	c.(2740-2742)cGa>cAa	p.R914Q		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	914	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCCAAGACACGACCTGTCACG	0.512																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(2740-2742)cGa>cAa		ADAM metallopeptidase with thrombospondin type 1 motif, 16							96.0	101.0	99.0					5																	5262848		2001	4160	6161	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5262848G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2741G>A	5.37:g.5262848G>A	ENSP00000274181:p.Arg914Gln						p.R914Q	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			18	2879	+			914			TSP type-1 2.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2741G>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.088601	0.55968	.	.	ENSG00000145536	ENST00000274181	T	0.62498	0.02	5.09	5.09	0.68999	.	0.072733	0.53938	D	0.000047	T	0.61974	0.2390	M	0.77820	2.39	0.58432	D	0.999999	B;B	0.31503	0.277;0.326	B;B	0.24394	0.03;0.053	T	0.63251	-0.6679	10	0.34782	T	0.22	.	15.988	0.80176	0.0:0.0:1.0:0.0	.	914;914	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	Q	914	ENSP00000274181:R914Q	ENSP00000274181:R914Q	R	+	2	0	ADAMTS16	5315848	1.000000	0.71417	0.122000	0.21767	0.565000	0.35776	4.585000	0.60977	2.370000	0.80446	0.561000	0.74099	CGA		0.512	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		65	82	0	0	0	1	0	65	82				
CDKN2B	1030	broad.mit.edu	37	9	22006054	22006054	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr9:22006054C>T	ENST00000276925.6	-	2	758	c.349G>A	c.(349-351)Gtg>Atg	p.V117M	CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B_ENST00000380142.4_3'UTR|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA	NM_004936.3|NM_078487.2	NP_004927.2|NP_511042.1	P42772	CDN2B_HUMAN	cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	117					aging (GO:0007568)|cell cycle arrest (GO:0007050)|cellular response to extracellular stimulus (GO:0031668)|cellular response to nutrient (GO:0031670)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|liver development (GO:0001889)|megakaryocyte differentiation (GO:0030219)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to cytokine (GO:0034097)|response to organic cyclic compound (GO:0014070)|spleen development (GO:0048536)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0(1)|p.0?(1)		lung(2)	2		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		GCCAAGTCCACGGGCAGACGA	0.716																																						ENST00000276925.6																			2	Whole gene deletion(2)	p.0(1)|p.0?(1)	lung(2)	lung(2)	2						c.(349-351)Gtg>Atg		cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)							14.0	17.0	16.0					9																	22006054		2193	4273	6466	SO:0001583	missense	1030				cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	g.chr9:22006054C>T	AB060808	CCDS6512.1, CCDS6513.1	9p21	2008-07-21			ENSG00000147883	ENSG00000147883			1788	protein-coding gene	gene with protein product		600431				8078588	Standard	NM_004936		Approved	P15, MTS2, INK4B, TP15, CDK4I, p15INK4b	uc003zpo.3	P42772	OTTHUMG00000019691	ENST00000276925.6:c.349G>A	9.37:g.22006054C>T	ENSP00000276925:p.Val117Met					CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B_ENST00000380142.4_3'UTR|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA	p.V117M	NM_004936.3|NM_078487.2	NP_004927.2|NP_511042.1	P42772	CDN2B_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)	2	758	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)	117					O15125|Q6FI09	Missense_Mutation	SNP	ENST00000276925.6	37	c.349G>A	CCDS6512.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820206	0.71028	.	.	ENSG00000147883	ENST00000276925	T	0.64438	-0.1	4.79	2.78	0.32641	Ankyrin repeat-containing domain (4);	0.134851	0.49305	D	0.000141	T	0.54287	0.1849	N	0.16862	0.45	0.80722	D	1	D	0.61080	0.989	P	0.58130	0.833	T	0.56673	-0.7940	10	0.72032	D	0.01	-33.8011	5.2357	0.15445	0.388:0.5138:0.0:0.0982	.	117	P42772	CDN2B_HUMAN	M	117	ENSP00000276925:V117M	ENSP00000276925:V117M	V	-	1	0	CDKN2B	21996054	0.618000	0.27051	1.000000	0.80357	0.922000	0.55478	0.068000	0.14531	1.216000	0.43427	-0.152000	0.13540	GTG		0.716	CDKN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051932.2	NM_004936		12	20	0	0	0	1	0	12	20				
TRPM6	140803	broad.mit.edu	37	9	77354770	77354770	+	Missense_Mutation	SNP	C	C	T	rs142946646		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr9:77354770C>T	ENST00000360774.1	-	34	5593	c.5356G>A	c.(5356-5358)Gtc>Atc	p.V1786I	TRPM6_ENST00000376872.3_Missense_Mutation_p.V741I|TRPM6_ENST00000361255.3_Missense_Mutation_p.V1781I|TRPM6_ENST00000449912.2_Missense_Mutation_p.V1781I|TRPM6_ENST00000451710.3_Missense_Mutation_p.V1790I|TRPM6_ENST00000376871.3_Missense_Mutation_p.V623I|TRPM6_ENST00000376864.4_Missense_Mutation_p.V1790I	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1786	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CAAGTGCTGACGACTCTCATA	0.502																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(5368-5370)Gtc>Atc		transient receptor potential cation channel, subfamily M, member 6							114.0	102.0	106.0					9																	77354770		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77354770C>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.5356G>A	9.37:g.77354770C>T	ENSP00000354006:p.Val1786Ile					TRPM6_ENST00000449912.2_Missense_Mutation_p.V1781I|TRPM6_ENST00000376864.4_Missense_Mutation_p.V1790I|TRPM6_ENST00000376871.3_Missense_Mutation_p.V623I|TRPM6_ENST00000376872.3_Missense_Mutation_p.V741I|TRPM6_ENST00000361255.3_Missense_Mutation_p.V1781I|TRPM6_ENST00000360774.1_Missense_Mutation_p.V1786I	p.V1790I			Q9BX84	TRPM6_HUMAN			33	5605	-			1786			Alpha-type protein kinase.		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.5368G>A	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	8.786	0.929325	0.18131	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864	T;T;T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56;2.56;2.56	5.96	-0.852	0.10713	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.436979	0.27720	N	0.018137	T	0.04724	0.0128	N	0.11106	0.095	0.28029	N	0.934212	P;P;P;B;B;B	0.40931	0.55;0.55;0.733;0.019;0.002;0.015	B;B;B;B;B;B	0.33392	0.055;0.163;0.163;0.012;0.001;0.007	T	0.44907	-0.9297	10	0.09338	T	0.73	.	11.3445	0.49552	0.0:0.474:0.0:0.526	.	333;619;737;1786;1781;1781	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	I	1786;1790;741;623;1781;1781;332;1790	ENSP00000354006:V1786I;ENSP00000407341:V1790I;ENSP00000366068:V741I;ENSP00000366067:V623I;ENSP00000396672:V1781I;ENSP00000354962:V1781I;ENSP00000366060:V1790I	ENSP00000354006:V1786I	V	-	1	0	TRPM6	76544590	0.997000	0.39634	0.994000	0.49952	0.814000	0.46013	0.513000	0.22770	-0.059000	0.13154	-0.290000	0.09829	GTC		0.502	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		4	88	0	0	0	1	0	4	88				
ZC3H4	23211	broad.mit.edu	37	19	47572491	47572491	+	Silent	SNP	C	C	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr19:47572491C>A	ENST00000253048.5	-	14	2293	c.2256G>T	c.(2254-2256)ccG>ccT	p.P752P	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	752							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CGCCTGGCTTCGGCCGGCCTG	0.677																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(2254-2256)ccG>ccT		zinc finger CCCH-type containing 4							27.0	32.0	31.0					19																	47572491		1922	4110	6032	SO:0001819	synonymous_variant	23211						nucleic acid binding|zinc ion binding	g.chr19:47572491C>A	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2256G>T	19.37:g.47572491C>A						ZC3H4_ENST00000594019.1_Intron	p.P752P	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	14	2293	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	752					Q9Y420	Silent	SNP	ENST00000253048.5	37	c.2256G>T	CCDS42582.1																																																																																				0.677	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			5	51	1	0	0.184627	1	0.184627	5	51				
MT-CO1	4512	broad.mit.edu	37	M	7075	7075	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chrM:7075G>A	ENST00000361624.2	+	1	1172	c.1172G>A	c.(1171-1173)gGa>gAa	p.G391E	MT-CO2_ENST00000361739.1_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-ATP8_ENST00000361851.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TY_ENST00000387409.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TI_ENST00000387365.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	391					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						TGCCATCATAGGAGGCTTCAT	0.423																																						ENST00000361624.2																			0				breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						c.(1171-1173)gGa>gAa		mitochondrially encoded cytochrome c oxidase I																																				SO:0001583	missense	4512							g.chrM:7075G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.1172G>A	M.37:g.7075G>A	ENSP00000354499:p.Gly391Glu						p.391_391insE							1	1172	+								Q34770	Missense_Mutation	SNP	ENST00000361624.2	37	c.1172G>A																																																																																					0.423	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		6	78	0	0	0	1	0	6	78				
TP53	7157	broad.mit.edu	37	17	7578478	7578478	+	Missense_Mutation	SNP	G	G	C	rs137852790|rs137852791		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr17:7578478G>C	ENST00000269305.4	-	5	641	c.452C>G	c.(451-453)cCc>cGc	p.P151R	TP53_ENST00000359597.4_Missense_Mutation_p.P151R|TP53_ENST00000413465.2_Missense_Mutation_p.P151R|TP53_ENST00000420246.2_Missense_Mutation_p.P151R|TP53_ENST00000455263.2_Missense_Mutation_p.P151R|TP53_ENST00000445888.2_Missense_Mutation_p.P151R|TP53_ENST00000574684.1_5'Flank	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	151	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874). {ECO:0000269|PubMed:7682763}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P151H(31)|p.P151R(9)|p.0?(8)|p.P151L(7)|p.T150fs*16(6)|p.?(5)|p.P58H(2)|p.P19H(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*28(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P58R(1)|p.Q144_G154del11(1)|p.P19R(1)|p.Q144fs*16(1)|p.P152fs*14(1)|p.P151fs*30(1)|p.T18fs*16(1)|p.T150_P151delTP(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)	GCCGGGCGGGGGTGTGGAATC	0.607		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)	ENST00000420246.2		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"""		90	Substitution - Missense(53)|Deletion - Frameshift(14)|Deletion - In frame(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(2)	p.P151H(31)|p.P151R(9)|p.0?(8)|p.P151L(7)|p.T150fs*16(6)|p.?(5)|p.P58H(2)|p.P19H(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*28(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P58R(1)|p.Q144_G154del11(1)|p.P19R(1)|p.Q144fs*16(1)|p.P152fs*14(1)|p.P151fs*30(1)|p.T18fs*16(1)|p.T150_P151delTP(1)	lung(17)|large_intestine(13)|ovary(10)|skin(8)|oesophagus(8)|breast(6)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|central_nervous_system(4)|bone(4)|upper_aerodigestive_tract(3)|soft_tissue(2)|urinary_tract(2)|liver(2)|vulva(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						c.(451-453)cCc>cGc	Other conserved DNA damage response genes	tumor protein p53							54.0	55.0	55.0					17																	7578478		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578478G>C	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.452C>G	17.37:g.7578478G>C	ENSP00000269305:p.Pro151Arg	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_ENST00000269305.4_Missense_Mutation_p.P151R|TP53_ENST00000413465.2_Missense_Mutation_p.P151R|TP53_ENST00000445888.2_Missense_Mutation_p.P151R|TP53_ENST00000359597.4_Missense_Mutation_p.P151R|TP53_ENST00000455263.2_Missense_Mutation_p.P151R	p.P151R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	584	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	151		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.452C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.749177	0.49257	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	5.59	4.63	0.57726	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110207	0.64402	D	0.000007	D	0.99891	0.9948	M	0.91406	3.205	0.54753	D	0.999985	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.999;0.999;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.994;0.996;0.991;0.997;0.997;1.0	D	0.96236	0.9172	10	0.87932	D	0	-14.1156	12.4691	0.55777	0.0812:0.0:0.9188:0.0	.	112;151;151;58;151;151;151	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	151;151;151;151;151;151;140;58;19;58;19;151	ENSP00000410739:P151R;ENSP00000352610:P151R;ENSP00000269305:P151R;ENSP00000398846:P151R;ENSP00000391127:P151R;ENSP00000391478:P151R;ENSP00000425104:P19R;ENSP00000423862:P58R;ENSP00000424104:P151R	ENSP00000269305:P151R	P	-	2	0	TP53	7519203	1.000000	0.71417	0.974000	0.42286	0.058000	0.15608	6.711000	0.74675	1.515000	0.48885	0.655000	0.94253	CCC		0.607	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		52	18	0	0	0	1	0	52	18				
CST5	1473	broad.mit.edu	37	20	23856835	23856835	+	Missense_Mutation	SNP	C	C	T	rs146272783	byFrequency	TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr20:23856835C>T	ENST00000304710.4	-	3	492	c.419G>A	c.(418-420)cGg>cAg	p.R140Q		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	140					negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						CTAGACTTTCCGGCACTTGTA	0.527													c|||	19	0.00379393	0.0129	0.0029	5008	,	,		15716	0.0		0.0	False		,,,				2504	0.0					ENST00000304710.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						c.(418-420)cGg>cAg		cystatin D		C	GLN/ARG	35,4371	40.0+/-72.8	0,35,2168	85.0	92.0	90.0		419	0.7	0.0	20	dbSNP_134	90	0,8600		0,0,4300	yes	missense	CST5	NM_001900.4	43	0,35,6468	TT,TC,CC		0.0,0.7944,0.2691	benign	140/143	23856835	35,12971	2203	4300	6503	SO:0001583	missense	1473					extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr20:23856835C>T		CCDS13162.1	20p11.21	2008-04-15			ENSG00000170367	ENSG00000170367			2477	protein-coding gene	gene with protein product		123858				1939105	Standard	NM_001900		Approved		uc002wtr.1	P28325	OTTHUMG00000032089	ENST00000304710.4:c.419G>A	20.37:g.23856835C>T	ENSP00000307132:p.Arg140Gln						p.R140Q	NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN			3	492	-			140					Q5JRF5|Q9UCA0	Missense_Mutation	SNP	ENST00000304710.4	37	c.419G>A	CCDS13162.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	0.012	-1.658515	0.00779	0.007944	0.0	ENSG00000170367	ENST00000304710	T	0.09350	2.99	2.01	0.723	0.18231	Proteinase inhibitor I25, cystatin (1);	1.246430	0.05693	N	0.592517	T	0.02380	0.0073	N	0.03209	-0.39	0.09310	N	1	B	0.18310	0.027	B	0.06405	0.002	T	0.36359	-0.9751	10	0.02654	T	1	.	3.4257	0.07409	0.0:0.2966:0.0:0.7034	.	140	P28325	CYTD_HUMAN	Q	140	ENSP00000307132:R140Q	ENSP00000307132:R140Q	R	-	2	0	CST5	23804835	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	0.016000	0.13377	0.159000	0.19401	0.448000	0.29417	CGG		0.527	CST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078355.2	NM_001900		52	69	0	0	0	1	0	52	69				
RIF1	55183	broad.mit.edu	37	2	152311546	152311546	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr2:152311546T>C	ENST00000243326.5	+	21	2965	c.2482T>C	c.(2482-2484)Ttc>Ctc	p.F828L	RIF1_ENST00000453091.2_Missense_Mutation_p.F828L|RIF1_ENST00000428287.2_Missense_Mutation_p.F828L|RIF1_ENST00000444746.2_Missense_Mutation_p.F828L|RIF1_ENST00000430328.2_Missense_Mutation_p.F828L			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGATACCCTCTTCACTATTGG	0.383																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(2482-2484)Ttc>Ctc		RAP1 interacting factor homolog (yeast)							150.0	149.0	149.0					2																	152311546		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152311546T>C	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.2482T>C	2.37:g.152311546T>C	ENSP00000243326:p.Phe828Leu					RIF1_ENST00000444746.2_Missense_Mutation_p.F828L|RIF1_ENST00000453091.2_Missense_Mutation_p.F828L|RIF1_ENST00000428287.2_Missense_Mutation_p.F828L|RIF1_ENST00000430328.2_Missense_Mutation_p.F828L	p.F828L			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	21	2965	+			828					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.2482T>C	CCDS2194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.455|3.455	-0.111127|-0.111127	0.06881|0.06881	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328|ENST00000414861	T;T;T;T;T|T	0.64618|0.52983	-0.11;-0.11;-0.11;-0.11;-0.11|0.64	5.55|5.55	4.65|4.65	0.58169|0.58169	.|.	0.616256|.	0.16641|.	N|.	0.205655|.	T|T	0.11922|0.11922	0.0290|0.0290	N|N	0.00170|0.00170	-1.935|-1.935	0.19575|0.19575	N|N	0.999966|0.999966	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.04551|0.04551	-1.0943|-1.0943	10|7	0.02654|0.72032	T|D	1|0.01	-3.0931|-3.0931	3.5063|3.5063	0.07692|0.07692	0.1507:0.5335:0.2175:0.0983|0.1507:0.5335:0.2175:0.0983	.|.	828;828|.	Q5UIP0;Q5UIP0-2|.	RIF1_HUMAN;.|.	L|P	828|819	ENSP00000390181:F828L;ENSP00000414615:F828L;ENSP00000415691:F828L;ENSP00000243326:F828L;ENSP00000416123:F828L|ENSP00000390486:L819P	ENSP00000243326:F828L|ENSP00000390486:L819P	F|L	+|+	1|2	0|0	RIF1|RIF1	152019792|152019792	0.000000|0.000000	0.05858|0.05858	0.831000|0.831000	0.32960|0.32960	0.976000|0.976000	0.68499|0.68499	0.353000|0.353000	0.20130|0.20130	1.264000|1.264000	0.44198|0.44198	0.533000|0.533000	0.62120|0.62120	TTC|CTT		0.383	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			59	97	0	0	0	1	0	59	97				
EGFLAM	133584	broad.mit.edu	37	5	38406264	38406264	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr5:38406264G>A	ENST00000354891.3	+	7	1095	c.749G>A	c.(748-750)cGt>cAt	p.R250H	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000322350.5_Missense_Mutation_p.R250H|EGFLAM_ENST00000336740.6_Missense_Mutation_p.R16H|EGFLAM-AS2_ENST00000514377.1_RNA|EGFLAM-AS2_ENST00000512603.1_RNA	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	250					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TATGGACCCCGTTATATCACC	0.483																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(748-750)cGt>cAt		EGF-like, fibronectin type III and laminin G domains							110.0	108.0	108.0					5																	38406264		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38406264G>A	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.749G>A	5.37:g.38406264G>A	ENSP00000346964:p.Arg250His					EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.R16H|EGFLAM_ENST00000354891.3_Missense_Mutation_p.R250H	p.R250H	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			7	1095	+	all_lung(31;0.000385)		250					A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.749G>A	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.288515	0.23478	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;T	0.79554	0.78;0.61;-1.28	5.17	-8.47	0.00939	.	1.174740	0.06077	N	0.661218	T	0.57227	0.2039	N	0.03177	-0.4	0.09310	N	1	B;B;B	0.10296	0.0;0.002;0.003	B;B;B	0.06405	0.001;0.001;0.002	T	0.52653	-0.8547	10	0.13853	T	0.58	-18.3322	17.0257	0.86446	0.3416:0.0:0.6584:0.0	.	16;250;250	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	H	250;250;16;16	ENSP00000346964:R250H;ENSP00000313084:R250H;ENSP00000337607:R16H	ENSP00000313084:R250H	R	+	2	0	EGFLAM	38442021	0.000000	0.05858	0.000000	0.03702	0.160000	0.22226	-0.637000	0.05459	-1.479000	0.01867	-1.744000	0.00683	CGT		0.483	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		33	55	0	0	0	1	0	33	55				
PIGG	54872	broad.mit.edu	37	4	517577	517577	+	Silent	SNP	C	C	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr4:517577C>A	ENST00000453061.2	+	9	2050	c.1944C>A	c.(1942-1944)ggC>ggA	p.G648G	PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_Silent_p.G515G|PIGG_ENST00000504346.1_Silent_p.G559G|PIGG_ENST00000310340.5_Silent_p.G640G	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	648					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TGCTCAGAGGCCGCGAGAAGT	0.652																																						ENST00000453061.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						c.(1942-1944)ggC>ggA		phosphatidylinositol glycan anchor biosynthesis, class G							36.0	34.0	35.0					4																	517577		2203	4299	6502	SO:0001819	synonymous_variant	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:517577C>A		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.1944C>A	4.37:g.517577C>A						PIGG_ENST00000310340.5_Silent_p.G640G|PIGG_ENST00000504346.1_Silent_p.G559G|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_Silent_p.G515G	p.G648G	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN			9	2050	+			648					B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Silent	SNP	ENST00000453061.2	37	c.1944C>A	CCDS46992.1																																																																																				0.652	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		22	32	1	0	3.5997e-14	1	4.17412e-14	22	32				
NOX4	50507	broad.mit.edu	37	11	89106611	89106611	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr11:89106611C>T	ENST00000263317.4	-	12	1362	c.1124G>A	c.(1123-1125)gGa>gAa	p.G375E	NOX4_ENST00000542487.1_Missense_Mutation_p.G351E|NOX4_ENST00000343727.5_Missense_Mutation_p.G351E|NOX4_ENST00000535633.1_Missense_Mutation_p.G351E|NOX4_ENST00000532825.1_Missense_Mutation_p.G351E|NOX4_ENST00000527956.1_Missense_Mutation_p.G351E|NOX4_ENST00000534731.1_Missense_Mutation_p.G375E|NOX4_ENST00000528341.1_Missense_Mutation_p.G350E|NOX4_ENST00000375979.3_Missense_Mutation_p.G68E|NOX4_ENST00000527626.1_Missense_Mutation_p.G209E|NOX4_ENST00000413594.2_Missense_Mutation_p.G396E|NOX4_ENST00000531342.1_Missense_Mutation_p.G68E|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000424319.1_Missense_Mutation_p.G351E			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	375	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.|Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.G375E(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TGTCCAGTCTCCTACTATTTT	0.279																																						ENST00000535633.1																			1	Substitution - Missense(1)	p.G375E(1)	large_intestine(1)	NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.(1051-1053)gGa>gAa		NADPH oxidase 4							100.0	110.0	107.0					11																	89106611		2201	4283	6484	SO:0001583	missense	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89106611C>T	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1124G>A	11.37:g.89106611C>T	ENSP00000263317:p.Gly375Glu					NOX4_ENST00000263317.4_Missense_Mutation_p.G375E|NOX4_ENST00000534731.1_Missense_Mutation_p.G375E|NOX4_ENST00000527626.1_Missense_Mutation_p.G209E|NOX4_ENST00000413594.2_Missense_Mutation_p.G396E|NOX4_ENST00000375979.3_Missense_Mutation_p.G68E|NOX4_ENST00000542487.1_Missense_Mutation_p.G351E|NOX4_ENST00000424319.1_Missense_Mutation_p.G351E|NOX4_ENST00000527956.1_Missense_Mutation_p.G351E|NOX4_ENST00000532825.1_Missense_Mutation_p.G351E|NOX4_ENST00000528341.1_Missense_Mutation_p.G350E|NOX4_ENST00000343727.5_Missense_Mutation_p.G351E|NOX4_ENST00000531342.1_Missense_Mutation_p.G68E|NOX4_ENST00000525196.1_Intron	p.G351E	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN			12	1362	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	375			FAD-binding FR-type.|Mediates interaction with TLR4.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	c.1052G>A	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.057366	0.55325	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594;ENST00000531342;ENST00000375979	T;T;T;T;T;T;T;T;T;T;T;D;D	0.98012	1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;-4.05;-4.66	5.12	5.12	0.69794	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98757	0.9582	M	0.87971	2.92	0.52501	D	0.999951	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.992;0.998;1.0;0.999;1.0	D	0.99505	1.0954	9	.	.	.	-12.7557	15.4797	0.75514	0.0:1.0:0.0:0.0	.	351;209;350;68;68;375;375	E9PMY6;E9PR43;E9PPP2;Q9NPH5-3;Q9NPH5-4;Q9NPH5-6;Q9NPH5	.;.;.;.;.;.;NOX4_HUMAN	E	351;351;351;375;375;351;351;351;209;350;396;68;68	ENSP00000412446:G351E;ENSP00000440172:G351E;ENSP00000344747:G351E;ENSP00000436892:G375E;ENSP00000263317:G375E;ENSP00000434924:G351E;ENSP00000433797:G351E;ENSP00000439373:G351E;ENSP00000436093:G209E;ENSP00000436970:G350E;ENSP00000405705:G396E;ENSP00000435039:G68E;ENSP00000365146:G68E	.	G	-	2	0	NOX4	88746259	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.868000	0.63021	2.382000	0.81193	0.563000	0.77884	GGA		0.279	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		6	89	0	0	0	1	0	6	89				
PABPC5	140886	broad.mit.edu	37	X	90690676	90690676	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chrX:90690676C>T	ENST00000312600.3	+	2	314	c.100C>T	c.(100-102)Ctc>Ttc	p.L34F	PABPC5_ENST00000373105.1_Intron|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	34	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CGAGGACATGCTCTATAAGAA	0.572																																						ENST00000312600.3																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						c.(100-102)Ctc>Ttc		poly(A) binding protein, cytoplasmic 5							63.0	48.0	53.0					X																	90690676		2203	4300	6503	SO:0001583	missense	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90690676C>T	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.100C>T	X.37:g.90690676C>T	ENSP00000308012:p.Leu34Phe					PABPC5_ENST00000373105.1_Intron	p.L34F	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN			2	314	+			34			RRM 1.		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	c.100C>T	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910024	0.52439	.	.	ENSG00000174740	ENST00000312600;ENST00000402906	T	0.45276	0.9	4.43	0.596	0.17496	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.67933	0.2946	M	0.92077	3.27	0.49582	D	0.999801	D	0.89917	1.0	D	0.91635	0.999	T	0.71341	-0.4622	10	0.87932	D	0	.	10.7817	0.46382	0.0:0.8725:0.0:0.1275	.	34	Q96DU9	PABP5_HUMAN	F	34;2	ENSP00000308012:L34F	ENSP00000308012:L34F	L	+	1	0	PABPC5	90577332	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	1.392000	0.34486	-0.027000	0.13873	0.600000	0.82982	CTC		0.572	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		16	15	0	0	0	1	0	16	15				
SYDE1	85360	broad.mit.edu	37	19	15224655	15224655	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr19:15224655G>A	ENST00000342784.2	+	8	2120	c.2089G>A	c.(2089-2091)Ggt>Agt	p.G697S	SYDE1_ENST00000600252.1_Missense_Mutation_p.G354S|SYDE1_ENST00000600440.1_Missense_Mutation_p.G630S	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	697					activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						GAGGGTCACCGGTGACTTCGA	0.622																																						ENST00000600252.1																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						c.(1060-1062)Ggt>Agt		synapse defective 1, Rho GTPase, homolog 1 (C. elegans)							124.0	134.0	130.0					19																	15224655		2203	4300	6503	SO:0001583	missense	85360				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr19:15224655G>A	BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.2089G>A	19.37:g.15224655G>A	ENSP00000341489:p.Gly697Ser					SYDE1_ENST00000600440.1_Missense_Mutation_p.G630S|SYDE1_ENST00000342784.2_Missense_Mutation_p.G697S	p.G354S			Q6ZW31	SYDE1_HUMAN			5	2702	+			697					Q7L2I8|Q8N6J2|Q9H8K4	Missense_Mutation	SNP	ENST00000342784.2	37	c.1060G>A	CCDS12324.1	.	.	.	.	.	.	.	.	.	.	G	1.562	-0.536326	0.04082	.	.	ENSG00000105137	ENST00000342784	T	0.42513	0.97	5.23	0.628	0.17681	.	0.815141	0.11109	N	0.598819	T	0.22551	0.0544	N	0.19112	0.55	0.09310	N	1	B;B;B	0.31100	0.089;0.308;0.089	B;B;B	0.27887	0.054;0.084;0.054	T	0.20806	-1.0264	10	0.17832	T	0.49	.	6.9289	0.24429	0.4116:0.0:0.5884:0.0	.	630;630;697	B2RD93;Q6ZW31-2;Q6ZW31	.;.;SYDE1_HUMAN	S	697	ENSP00000341489:G697S	ENSP00000341489:G697S	G	+	1	0	SYDE1	15085655	0.000000	0.05858	0.001000	0.08648	0.081000	0.17604	-0.172000	0.09868	-0.045000	0.13468	0.491000	0.48974	GGT		0.622	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	NM_033025		6	311	0	0	0	1	0	6	311				
HIGD1A	25994	broad.mit.edu	37	3	42827564	42827564	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr3:42827564A>G	ENST00000321331.7	-	3	305	c.188T>C	c.(187-189)aTg>aCg	p.M63T	HIGD1A_ENST00000418900.2_Missense_Mutation_p.M63T|HIGD1A_ENST00000452906.2_Missense_Mutation_p.M77T|HIGD1A_ENST00000430190.1_Missense_Mutation_p.M63T|HIGD1A_ENST00000470543.1_5'UTR	NM_001099669.1|NM_014056.3	NP_001093139.1|NP_054775.2	Q9Y241	HIG1A_HUMAN	HIG1 hypoxia inducible domain family, member 1A	63	HIG1. {ECO:0000255|PROSITE- ProRule:PRU00836}.				cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|protein complex (GO:0043234)|respiratory chain (GO:0070469)				lung(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TGCCACACGCATGTGGATCAG	0.383																																						ENST00000321331.7																			0				lung(1)	1						c.(187-189)aTg>aCg		HIG1 hypoxia inducible domain family, member 1A							81.0	73.0	75.0					3																	42827564		1842	4096	5938	SO:0001583	missense	25994				response to stress	integral to membrane|protein complex	protein binding	g.chr3:42827564A>G	BC009583	CCDS43073.1, CCDS46806.1	3p22.1	2014-02-12	2009-03-17		ENSG00000181061	ENSG00000181061			29527	protein-coding gene	gene with protein product	"""hypoxia inducible gene 1"""		"""HIG1 domain family, member 1A"""			11042152, 11230166	Standard	NM_001099668		Approved	HIG1, DKFZP564K247	uc010hid.3	Q9Y241	OTTHUMG00000156277	ENST00000321331.7:c.188T>C	3.37:g.42827564A>G	ENSP00000319393:p.Met63Thr					HIGD1A_ENST00000430190.1_Missense_Mutation_p.M63T|HIGD1A_ENST00000470543.1_5'UTR|HIGD1A_ENST00000418900.2_Missense_Mutation_p.M63T|HIGD1A_ENST00000452906.2_Missense_Mutation_p.M77T	p.M63T	NM_001099669.1|NM_014056.3	NP_001093139.1|NP_054775.2	Q9Y241	HIG1A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.217)	3	305	-			63			HIG1.		Q9UFZ2	Missense_Mutation	SNP	ENST00000321331.7	37	c.188T>C	CCDS43073.1	.	.	.	.	.	.	.	.	.	.	A	15.11	2.736042	0.49045	.	.	ENSG00000181061	ENST00000321331;ENST00000418900;ENST00000430190;ENST00000452906	T;T;T	0.29397	1.6;1.6;1.57	4.73	4.73	0.59995	Hypoxia induced protein, domain (2);	0.033708	0.85682	N	0.000000	T	0.33789	0.0875	.	.	.	0.80722	D	1	D;P	0.53312	0.959;0.833	P;P	0.54346	0.749;0.734	T	0.04090	-1.0978	9	0.09843	T	0.71	-0.2788	12.4699	0.55781	1.0:0.0:0.0:0.0	.	77;63	Q9Y241-2;Q9Y241	.;HIG1A_HUMAN	T	63;63;63;77	ENSP00000319393:M63T;ENSP00000402160:M63T;ENSP00000398064:M77T	ENSP00000319393:M63T	M	-	2	0	HIGD1A	42802568	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.774000	0.75012	2.110000	0.64415	0.482000	0.46254	ATG		0.383	HIGD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343686.1	NM_014056		25	35	0	0	0	1	0	25	35				
ARHGEF39	84904	broad.mit.edu	37	9	35664430	35664430	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr9:35664430C>T	ENST00000378387.3	-	3	410	c.293G>A	c.(292-294)cGc>cAc	p.R98H	ARHGEF39_ENST00000343259.3_Missense_Mutation_p.R98H|ARHGEF39_ENST00000378395.2_Missense_Mutation_p.R62H|ARHGEF39_ENST00000490970.1_5'UTR	NM_032818.2	NP_116207.2	Q8N4T4	ARG39_HUMAN	Rho guanine nucleotide exchange factor (GEF) 39	98	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				positive regulation of cell migration (GO:0030335)	plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)										CTCCAAGTGGCGGCAGAAGCC	0.567																																						ENST00000378387.3																			0											c.(292-294)cGc>cAc		Rho guanine nucleotide exchange factor (GEF) 39							86.0	93.0	91.0					9																	35664430		2203	4300	6503	SO:0001583	missense	84904							g.chr9:35664430C>T	AK001187	CCDS6584.2	9p13.3	2012-08-08	2012-08-08	2012-08-08	ENSG00000137135	ENSG00000137135			25909	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 100"""	C9orf100		22327280	Standard	XR_242516		Approved	FLJ14642	uc003zxm.1	Q8N4T4	OTTHUMG00000019869	ENST00000378387.3:c.293G>A	9.37:g.35664430C>T	ENSP00000367638:p.Arg98His					ARHGEF39_ENST00000343259.3_Missense_Mutation_p.R98H|ARHGEF39_ENST00000378395.2_Missense_Mutation_p.R62H|ARHGEF39_ENST00000490970.1_5'UTR	p.R98H	NM_032818.2	NP_116207.2					3	410	-								Q49AG0|Q6TPQ2|Q96ST6	Missense_Mutation	SNP	ENST00000378387.3	37	c.293G>A	CCDS6584.2	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854703	0.51376	.	.	ENSG00000137135	ENST00000378387;ENST00000378395;ENST00000343259	T;T;T	0.63255	-0.03;-0.03;-0.03	6.02	-0.529	0.11901	Dbl homology (DH) domain (5);	0.892234	0.10054	N	0.721790	T	0.36303	0.0962	N	0.05230	-0.09	0.22811	N	0.998708	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.20240	-1.0281	10	0.25106	T	0.35	-23.8193	8.9675	0.35885	0.0:0.2436:0.3407:0.4157	.	98;98	B4E0T1;Q8N4T4	.;CI100_HUMAN	H	98;62;98	ENSP00000367638:R98H;ENSP00000367648:R62H;ENSP00000344922:R98H	ENSP00000344922:R98H	R	-	2	0	C9orf100	35654430	0.701000	0.27806	0.976000	0.42696	0.996000	0.88848	-0.209000	0.09358	0.138000	0.18790	-0.137000	0.14449	CGC		0.567	ARHGEF39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052330.1	NM_032818		46	66	0	0	0	1	0	46	66				
CYP2A7	1549	broad.mit.edu	37	19	41386411	41386411	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr19:41386411G>T	ENST00000301146.4	-	3	1007	c.466C>A	c.(466-468)Ctc>Atc	p.L156I	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.L105I	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	156						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GCCTCGATGAGGAAGCCCGAC	0.667																																						ENST00000301146.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(466-468)Ctc>Atc		cytochrome P450, family 2, subfamily A, polypeptide 7							52.0	48.0	50.0					19																	41386411		2203	4300	6503	SO:0001583	missense	1549					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41386411G>T	NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"""Cytochrome P450s"""	2611	protein-coding gene	gene with protein product		608054	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"""			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.466C>A	19.37:g.41386411G>T	ENSP00000301146:p.Leu156Ile					CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.L105I	p.L156I	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		3	1007	-			156					Q13121	Missense_Mutation	SNP	ENST00000301146.4	37	c.466C>A	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	g	14.49	2.551202	0.45383	.	.	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.75050	-0.9;-0.9	2.22	-0.358	0.12575	.	0.083439	0.48767	U	0.000171	T	0.81522	0.4840	M	0.78456	2.415	0.09310	N	1	D;D;P	0.76494	0.998;0.999;0.936	D;D;D	0.75484	0.986;0.953;0.962	T	0.70985	-0.4723	10	0.87932	D	0	.	6.0063	0.19549	0.4101:0.0:0.5899:0.0	.	156;105;156	B7ZKR0;F8W816;P20853	.;.;CP2A7_HUMAN	I	156;105	ENSP00000301146:L156I;ENSP00000291764:L105I	ENSP00000291764:L105I	L	-	1	0	CYP2A7	46078251	0.195000	0.23338	0.001000	0.08648	0.014000	0.08584	0.249000	0.18216	-0.148000	0.11234	0.195000	0.17529	CTC		0.667	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589		11	105	1	0	2.80697e-09	1	3.0596e-09	11	105				
DHX35	60625	broad.mit.edu	37	20	37634873	37634873	+	Silent	SNP	C	C	A	rs199985100		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr20:37634873C>A	ENST00000252011.3	+	12	1129	c.1096C>A	c.(1096-1098)Cga>Aga	p.R366R	DHX35_ENST00000373323.4_Silent_p.R335R|DHX35_ENST00000373325.2_Silent_p.R366R	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	366	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)	p.R366R(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TGTGAAACTCCGAGCCTACAA	0.532																																						ENST00000252011.3																			1	Substitution - coding silent(1)	p.R366R(1)	lung(1)	breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40						c.(1096-1098)Cga>Aga		DEAH (Asp-Glu-Ala-His) box polypeptide 35							288.0	275.0	279.0					20																	37634873		2203	4300	6503	SO:0001819	synonymous_variant	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37634873C>A	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.1096C>A	20.37:g.37634873C>A						DHX35_ENST00000373325.2_Silent_p.R366R|DHX35_ENST00000373323.4_Silent_p.R335R	p.R366R	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN			12	1129	+		Myeloproliferative disorder(115;0.00878)	366			Helicase C-terminal.		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Silent	SNP	ENST00000252011.3	37	c.1096C>A	CCDS13310.1																																																																																				0.532	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		102	558	1	0	6.97839e-76	1	8.26788e-76	102	558				
BRCA2	675	broad.mit.edu	37	13	32913905	32913905	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr13:32913905A>G	ENST00000380152.3	+	11	5646	c.5413A>G	c.(5413-5415)Aat>Gat	p.N1805D	BRCA2_ENST00000544455.1_Missense_Mutation_p.N1805D			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1805			N -> S (in dbSNP:rs80358765).		brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ACAAACTGTAAATGAAGATAT	0.313			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(5413-5415)Aat>Gat	Homologous recombination	breast cancer 2, early onset							67.0	71.0	70.0					13																	32913905		2203	4300	6503	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32913905A>G	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.5413A>G	13.37:g.32913905A>G	ENSP00000369497:p.Asn1805Asp	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.N1805D	p.N1805D	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	5640	+		Lung SC(185;0.0262)	1805		N -> S.			O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.5413A>G	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	8.013	0.757963	0.15846	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00792	5.69;5.69	5.66	1.74	0.24563	.	0.456582	0.22932	N	0.053885	T	0.00637	0.0021	L	0.27053	0.805	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.48055	-0.9068	10	0.25751	T	0.34	.	5.2755	0.15647	0.4824:0.2902:0.2274:0.0	.	1805	P51587	BRCA2_HUMAN	D	1805	ENSP00000369497:N1805D;ENSP00000439902:N1805D	ENSP00000369497:N1805D	N	+	1	0	BRCA2	31811905	0.000000	0.05858	0.182000	0.23118	0.022000	0.10575	0.525000	0.22956	0.518000	0.28383	-0.331000	0.08364	AAT		0.313	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		17	100	0	0	0	1	0	17	100				
TENM2	57451	broad.mit.edu	37	5	167689260	167689260	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr5:167689260C>G	ENST00000518659.1	+	29	7809	c.7770C>G	c.(7768-7770)agC>agG	p.S2590R	TENM2_ENST00000519204.1_Missense_Mutation_p.S2469R|TENM2_ENST00000520394.1_Missense_Mutation_p.S2351R|TENM2_ENST00000545108.1_Missense_Mutation_p.S2589R|TENM2_ENST00000403607.2_Missense_Mutation_p.S2414R	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2590					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GCATCGCCAGCGAAGATAGCC	0.557																																						ENST00000519204.1																			0											c.(7405-7407)agC>agG		teneurin transmembrane protein 2							35.0	40.0	38.0					5																	167689260		2085	4222	6307	SO:0001583	missense	57451							g.chr5:167689260C>G	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.7770C>G	5.37:g.167689260C>G	ENSP00000429430:p.Ser2590Arg					TENM2_ENST00000520394.1_Missense_Mutation_p.S2351R|TENM2_ENST00000403607.2_Missense_Mutation_p.S2414R|TENM2_ENST00000518659.1_Missense_Mutation_p.S2590R|TENM2_ENST00000545108.1_Missense_Mutation_p.S2589R	p.S2469R							28	7525	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.7407C>G		.	.	.	.	.	.	.	.	.	.	C	12.90	2.075057	0.36566	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89681	-2.08;-2.07;-2.18;-2.54;-2.55	5.42	3.62	0.41486	.	0.153384	0.64402	D	0.000001	T	0.81322	0.4798	L	0.32530	0.975	0.38770	D	0.954524	P;P;B	0.37594	0.601;0.466;0.095	B;B;B	0.36666	0.23;0.115;0.083	T	0.79838	-0.1634	10	0.87932	D	0	.	6.7118	0.23282	0.1761:0.6635:0.0:0.1604	.	2589;2590;2351	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	R	2590;2589;2469;2351;2414	ENSP00000429430:S2590R;ENSP00000438635:S2589R;ENSP00000428964:S2469R;ENSP00000427874:S2351R;ENSP00000384905:S2414R	ENSP00000384905:S2414R	S	+	3	2	ODZ2	167621838	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.008000	0.29872	0.749000	0.32854	0.655000	0.94253	AGC		0.557	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		9	15	0	0	0	1	0	9	15				
NEK5	341676	broad.mit.edu	37	13	52661488	52661488	+	Missense_Mutation	SNP	C	C	T	rs267603847		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr13:52661488C>T	ENST00000355568.4	-	15	1517	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	460					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.E517K(2)|p.E460K(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TCCTTCATTTCGTTTTTCCTA	0.393																																						ENST00000355568.4																			4	Substitution - Missense(4)	p.E517K(2)|p.E460K(2)	urinary_tract(2)|large_intestine(2)	breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(1378-1380)Gaa>Aaa		NIMA-related kinase 5							151.0	144.0	146.0					13																	52661488		2203	4300	6503	SO:0001583	missense	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52661488C>T	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1378G>A	13.37:g.52661488C>T	ENSP00000347767:p.Glu460Lys						p.E460K	NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	15	1517	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	460					Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	c.1378G>A	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	C	6.210	0.406907	0.11754	.	.	ENSG00000197168	ENST00000355568	T	0.71222	-0.55	5.55	-5.29	0.02747	.	0.855682	0.10311	N	0.689946	T	0.51890	0.1701	L	0.39633	1.23	0.09310	N	1	B	0.24768	0.111	B	0.14578	0.011	T	0.31223	-0.9951	10	0.18276	T	0.48	.	8.2198	0.31534	0.115:0.251:0.0:0.6341	.	460	Q6P3R8	NEK5_HUMAN	K	460	ENSP00000347767:E460K	ENSP00000347767:E460K	E	-	1	0	NEK5	51559489	0.000000	0.05858	0.000000	0.03702	0.252000	0.25951	-0.442000	0.06871	-1.580000	0.01644	-0.150000	0.13652	GAA		0.393	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		5	101	0	0	0	1	0	5	101				
SORBS3	10174	broad.mit.edu	37	8	22428688	22428688	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr8:22428688G>A	ENST00000240123.7	+	18	2080	c.1697G>A	c.(1696-1698)cGc>cAc	p.R566H	SORBS3_ENST00000428103.1_Missense_Mutation_p.R224H	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	566					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		TCCCCCCGTCGCACTGGCTTC	0.697																																						ENST00000240123.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18						c.(1696-1698)cGc>cAc		sorbin and SH3 domain containing 3							23.0	24.0	24.0					8																	22428688		2188	4277	6465	SO:0001583	missense	10174				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding	g.chr8:22428688G>A		CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.1697G>A	8.37:g.22428688G>A	ENSP00000240123:p.Arg566His					SORBS3_ENST00000428103.1_Missense_Mutation_p.R224H	p.R566H	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	18	2080	+		Prostate(55;0.0421)|Breast(100;0.102)	566					Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Missense_Mutation	SNP	ENST00000240123.7	37	c.1697G>A	CCDS6031.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.59|12.59	1.984305|1.984305	0.35036|0.35036	.|.	.|.	ENSG00000120896|ENSG00000120896	ENST00000517962|ENST00000240123;ENST00000428103;ENST00000523965;ENST00000523348	.|T;T;T;T	.|0.14893	.|3.22;3.19;2.63;2.47	5.56|5.56	3.78|3.78	0.43462|0.43462	.|.	.|0.136917	.|0.33650	.|N	.|0.004698	T|T	0.13927|0.13927	0.0337|0.0337	L|L	0.39397|0.39397	1.21|1.21	0.44825|0.44825	D|D	0.99783|0.99783	.|B	.|0.17465	.|0.022	.|B	.|0.10450	.|0.005	T|T	0.04915|0.04915	-1.0918|-1.0918	5|10	.|0.62326	.|D	.|0.03	-5.1787|-5.1787	7.7787|7.7787	0.29051|0.29051	0.2548:0.0:0.7452:0.0|0.2548:0.0:0.7452:0.0	.|.	.|566	.|O60504	.|VINEX_HUMAN	T|H	78|566;224;224;177	.|ENSP00000240123:R566H;ENSP00000408476:R224H;ENSP00000429764:R224H;ENSP00000428678:R177H	.|ENSP00000240123:R566H	A|R	+|+	1|2	0|0	SORBS3|SORBS3	22484633|22484633	0.000000|0.000000	0.05858|0.05858	0.958000|0.958000	0.39756|0.39756	0.489000|0.489000	0.33432|0.33432	0.841000|0.841000	0.27613|0.27613	0.722000|0.722000	0.32252|0.32252	0.563000|0.563000	0.77884|0.77884	GCA|CGC		0.697	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254647.3	NM_005775		35	54	0	0	0	1	0	35	54				
ERBB3	2065	broad.mit.edu	37	12	56477655	56477655	+	Missense_Mutation	SNP	C	C	T	rs142735651		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr12:56477655C>T	ENST00000267101.3	+	2	643	c.203C>T	c.(202-204)aCg>aTg	p.T68M	ERBB3_ENST00000411731.2_Missense_Mutation_p.T68M|ERBB3_ENST00000415288.2_Missense_Mutation_p.T9M|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	68					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ATTGTGCTCACGGGACACAAT	0.547																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(202-204)aCg>aTg		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3		C	MET/THR,MET/THR	0,4406		0,0,2203	280.0	225.0	243.0		203,203	6.0	1.0	12	dbSNP_134	243	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ERBB3	NM_001005915.1,NM_001982.3	81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	68/184,68/1343	56477655	1,13005	2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56477655C>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.203C>T	12.37:g.56477655C>T	ENSP00000267101:p.Thr68Met					ERBB3_ENST00000411731.2_Missense_Mutation_p.T68M|ERBB3_ENST00000415288.2_Missense_Mutation_p.T9M|ERBB3_ENST00000450146.2_Intron	p.T68M	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		2	643	+			68					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.203C>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.617002	0.28801	0.0	1.16E-4	ENSG00000065361	ENST00000549282;ENST00000549061;ENST00000267101;ENST00000394099;ENST00000411731;ENST00000549672;ENST00000415288	T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	5.96	5.96	0.96718	EGF receptor, L domain (1);	0.160269	0.42682	D	0.000668	T	0.55162	0.1903	N	0.04260	-0.245	0.80722	D	1	B;P	0.38195	0.014;0.622	B;B	0.27380	0.014;0.079	T	0.60403	-0.7270	10	0.20046	T	0.44	.	11.2718	0.49144	0.0:0.9174:0.0:0.0826	.	68;68	P21860;P21860-2	ERBB3_HUMAN;.	M	68;9;68;68;68;9;9	ENSP00000448636:T68M;ENSP00000449138:T9M;ENSP00000267101:T68M;ENSP00000415753:T68M;ENSP00000449713:T9M;ENSP00000408340:T9M	ENSP00000267101:T68M	T	+	2	0	ERBB3	54763922	1.000000	0.71417	0.979000	0.43373	0.935000	0.57460	5.434000	0.66526	2.823000	0.97156	0.650000	0.86243	ACG		0.547	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			82	135	0	0	0	1	0	82	135				
ASAP2	8853	broad.mit.edu	37	2	9519169	9519169	+	Silent	SNP	G	G	C	rs35776705		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr2:9519169G>C	ENST00000281419.3	+	19	2269	c.1929G>C	c.(1927-1929)ggG>ggC	p.G643G	ASAP2_ENST00000315273.4_Silent_p.G643G	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	643					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TCCTGCGGGGGAAGGCCTCCA	0.642																																						ENST00000281419.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.(1927-1929)ggG>ggC		ArfGAP with SH3 domain, ankyrin repeat and PH domain 2							46.0	42.0	44.0					2																	9519169		2203	4300	6503	SO:0001819	synonymous_variant	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9519169G>C	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.1929G>C	2.37:g.9519169G>C						ASAP2_ENST00000315273.4_Silent_p.G643G	p.G643G	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN			19	2269	+			643					D6W4Y8	Silent	SNP	ENST00000281419.3	37	c.1929G>C	CCDS1661.1																																																																																				0.642	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		8	33	0	0	0	1	0	8	33				
MT-CYB	4519	broad.mit.edu	37	M	14969	14969	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chrM:14969T>C	ENST00000361789.2	+	1	223	c.223T>C	c.(223-225)Tat>Cat	p.Y75H	MT-TH_ENST00000387441.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TS2_ENST00000387449.1_RNA|MT-ND6_ENST00000361681.2_5'Flank|MT-TT_ENST00000387460.2_RNA|MT-TE_ENST00000387459.1_RNA			P00156	CYB_HUMAN	mitochondrially encoded cytochrome b	75					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						GAGACGTAAATTATGGCTGAA	0.483																																						ENST00000361789.2																			0				breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						c.(223-225)Tat>Cat		mitochondrially encoded cytochrome b																																				SO:0001583	missense	4519							g.chrM:14969T>C			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198727	ENSG00000198727		"""Cytochrome b genes"", ""Mitochondrial respiratory chain complex / Complex III"""	7427	protein-coding gene	gene with protein product		516020	"""cytochrome b"""	MTCYB			Standard			Approved	COB, CYTB, UQCR3		P00156		ENST00000361789.2:c.223T>C	M.37:g.14969T>C	ENSP00000354554:p.Tyr75His						p.75_75insH							1	223	+								Q34786|Q8HBR6|Q8HNQ0|Q8HNQ1|Q8HNQ9|Q8HNR4|Q8HNR7|Q8W7V8|Q8WCV9|Q8WCY2|Q8WCY7|Q8WCY8|Q9B1A6|Q9B1B6|Q9B1B8|Q9B1D4|Q9B1X6|Q9B2V0|Q9B2V8|Q9B2W0|Q9B2W3|Q9B2W8|Q9B2X1|Q9B2X7|Q9B2X9|Q9B2Y3|Q9B2Z0|Q9B2Z4|Q9T6H6|Q9T9Y0|Q9TEH4	Missense_Mutation	SNP	ENST00000361789.2	37	c.223T>C																																																																																					0.483	MT-CYB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024038		157	14	0	0	0	1	0	157	14				
CYP4F3	4051	broad.mit.edu	37	19	15756607	15756607	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr19:15756607G>T	ENST00000221307.8	+	3	324	c.277G>T	c.(277-279)Ggg>Tgg	p.G93W	CYP4F3_ENST00000591058.1_Intron|CYP4F3_ENST00000586182.2_Intron|CYP4F3_ENST00000585846.1_Intron	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	93					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CTGGTGGGTGGGGCCCTGGCA	0.567																																						ENST00000221307.7																			0				endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						c.(277-279)Ggg>Tgg		cytochrome P450, family 4, subfamily F, polypeptide 3							117.0	105.0	109.0					19																	15756607		2203	4300	6503	SO:0001583	missense	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15756607G>T	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.277G>T	19.37:g.15756607G>T	ENSP00000221307:p.Gly93Trp					CYP4F3_ENST00000586182.1_Intron|CYP4F3_ENST00000585846.1_Intron|CYP4F3_ENST00000591058.1_Intron	p.G93W	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN			3	325	+			93					B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	c.277G>T	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	11.77	1.736364	0.30774	.	.	ENSG00000186529	ENST00000221307	D	0.97642	-4.47	3.91	2.82	0.32997	.	0.072248	0.56097	U	0.000040	D	0.97545	0.9196	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96753	0.9555	10	0.87932	D	0	.	6.4205	0.21740	0.2277:0.0:0.7723:0.0	.	93	Q08477	CP4F3_HUMAN	W	93	ENSP00000221307:G93W	ENSP00000221307:G93W	G	+	1	0	CYP4F3	15617607	1.000000	0.71417	0.992000	0.48379	0.135000	0.20990	4.120000	0.57897	2.007000	0.58848	0.609000	0.83330	GGG		0.567	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		37	46	1	0	1.04352e-10	1	1.14892e-10	37	46				
ITGA11	22801	broad.mit.edu	37	15	68643609	68643609	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr15:68643609C>G	ENST00000315757.7	-	8	967	c.881G>C	c.(880-882)aGa>aCa	p.R294T	ITGA11_ENST00000423218.2_Missense_Mutation_p.R294T|ITGA11_ENST00000562826.1_5'UTR	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	294	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						CACCGCATATCTTGTTACGTT	0.557																																						ENST00000423218.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						c.(880-882)aGa>aCa		integrin, alpha 11	Tirofiban(DB00775)						116.0	121.0	119.0					15																	68643609		2049	4191	6240	SO:0001583	missense	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68643609C>G	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.881G>C	15.37:g.68643609C>G	ENSP00000327290:p.Arg294Thr					ITGA11_ENST00000315757.7_Missense_Mutation_p.R294T|ITGA11_ENST00000562826.1_5'UTR	p.R294T			Q9UKX5	ITA11_HUMAN			8	976	-			294			VWFA.		J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	c.881G>C	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551671	0.45487	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000537153	D;D	0.81821	-1.54;-1.54	5.3	5.3	0.74995	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.84669	0.5523	L	0.28400	0.85	0.40524	D	0.980868	D;D	0.76494	0.999;0.995	D;P	0.73708	0.981;0.88	D	0.87081	0.2166	10	0.87932	D	0	.	17.9264	0.88985	0.0:1.0:0.0:0.0	.	294;294	A8K8T0;Q9UKX5	.;ITA11_HUMAN	T	294	ENSP00000327290:R294T;ENSP00000403392:R294T	ENSP00000327290:R294T	R	-	2	0	ITGA11	66430663	1.000000	0.71417	1.000000	0.80357	0.148000	0.21650	2.294000	0.43567	2.476000	0.83614	0.561000	0.74099	AGA		0.557	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		10	38	0	0	0	1	0	10	38				
AMY2B	280	broad.mit.edu	37	1	104122106	104122106	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:104122106C>A	ENST00000361355.4	+	12	2136	c.1520C>A	c.(1519-1521)gCt>gAt	p.A507D	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	507					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GCAATTCATGCTGAATCtaaa	0.294																																						ENST00000361355.4																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46						c.(1519-1521)gCt>gAt		amylase, alpha 2B (pancreatic)							117.0	125.0	122.0					1																	104122106		2203	4300	6503	SO:0001583	missense	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104122106C>A	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.1520C>A	1.37:g.104122106C>A	ENSP00000354610:p.Ala507Asp					AMY2B_ENST00000491397.1_3'UTR	p.A507D	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	12	2136	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	507					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	c.1520C>A	CCDS782.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235106	0.39498	.	.	ENSG00000240038	ENST00000361355	.	.	.	4.14	-2.73	0.05950	Alpha-amylase, C-terminal all beta (1);Glycosyl hydrolase, family 13, all-beta (1);	0.529823	0.19571	N	0.111086	T	0.35068	0.0919	M	0.83953	2.67	0.31360	N	0.681459	B	0.31040	0.305	B	0.31442	0.13	T	0.42361	-0.9456	9	0.87932	D	0	.	10.6051	0.45390	0.0:0.4439:0.0:0.5561	.	507	P19961	AMY2B_HUMAN	D	507	.	ENSP00000354610:A507D	A	+	2	0	AMY2B	103923629	0.012000	0.17670	0.204000	0.23530	0.897000	0.52465	0.038000	0.13862	-0.360000	0.08138	-0.324000	0.08512	GCT		0.294	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		27	310	1	0	6.32553e-13	1	7.25771e-13	27	310				
ACRV1	56	broad.mit.edu	37	11	125547800	125547800	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr11:125547800C>T	ENST00000533904.1	-	2	787	c.445G>A	c.(445-447)Ggc>Agc	p.G149S	ACRV1_ENST00000527795.1_Missense_Mutation_p.G79S|ACRV1_ENST00000453509.1_Missense_Mutation_p.G79S|ACRV1_ENST00000315608.3_Missense_Mutation_p.G149S|ACRV1_ENST00000530048.1_Missense_Mutation_p.G94S|ACRV1_ENST00000348856.3_Intron|ACRV1_ENST00000345274.1_Missense_Mutation_p.G79S|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000445562.1_Missense_Mutation_p.G54S|ACRV1_ENST00000425431.1_Intron			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	149	4 X 4 AA repeats of S-G-E-H.|9 X 5 AA repeats of [SV]-G-E-Q-[PSA].				multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		TCACCGGAGCCATGTTCACCT	0.552																																						ENST00000533904.1																			0				kidney(1)|large_intestine(3)|lung(2)	6						c.(445-447)Ggc>Agc		acrosomal vesicle protein 1							196.0	175.0	182.0					11																	125547800		2201	4299	6500	SO:0001583	missense	56				multicellular organismal development	acrosomal vesicle		g.chr11:125547800C>T	AK223335	CCDS8460.1, CCDS8461.1, CCDS44759.1, CCDS44761.1	11q24.2	2012-05-16			ENSG00000134940	ENSG00000134940			127	protein-coding gene	gene with protein product	"""sperm protein 10"""	102525				1693291, 8288254	Standard	NM_001612		Approved	SPACA2, SP-10, D11S4365	uc001qcs.3	P26436	OTTHUMG00000165854	ENST00000533904.1:c.445G>A	11.37:g.125547800C>T	ENSP00000432816:p.Gly149Ser					ACRV1_ENST00000257382.2_Missense_Mutation_p.G94S|ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000453509.1_Missense_Mutation_p.G79S|ACRV1_ENST00000345274.1_Missense_Mutation_p.G79S|ACRV1_ENST00000445562.1_Missense_Mutation_p.G54S|ACRV1_ENST00000433875.1_Missense_Mutation_p.G149S|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000426183.1_Missense_Mutation_p.G79S|ACRV1_ENST00000348856.3_Intron	p.G149S			P26436	ASPX_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)	2	787	-	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	149			4 X 4 AA repeats of S-G-E-H.|9 X 5 AA repeats of [SV]-G-E-Q-[PSA].		Q53FF4	Missense_Mutation	SNP	ENST00000533904.1	37	c.445G>A	CCDS8460.1	.	.	.	.	.	.	.	.	.	.	C	4.374	0.068981	0.08436	.	.	ENSG00000134940	ENST00000533904;ENST00000433875;ENST00000257382;ENST00000426183;ENST00000453509;ENST00000445562;ENST00000345274;ENST00000315608;ENST00000530048;ENST00000527795	T;T;T;T;T;T;T;T;T;T	0.41065	2.36;2.31;2.37;2.32;2.35;2.45;1.01;2.31;2.37;2.32	4.74	-9.48	0.00591	.	2.245710	0.01853	N	0.036041	T	0.16727	0.0402	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.0;0.001;0.0	B;B;B;B;B;B;B	0.12156	0.004;0.001;0.002;0.001;0.007;0.003;0.004	T	0.19976	-1.0289	10	0.20519	T	0.43	1.9225	1.4694	0.02412	0.303:0.1417:0.3294:0.2259	.	149;149;79;54;94;79;79	P26436;P26436-2;P26436-8;P26436-6;P26436-3;P26436-4;P26436-5	ASPX_HUMAN;.;.;.;.;.;.	S	149;149;94;79;79;54;79;149;94;79	ENSP00000432816:G149S;ENSP00000407846:G149S;ENSP00000257382:G94S;ENSP00000411583:G79S;ENSP00000397448:G79S;ENSP00000412653:G54S;ENSP00000257383:G79S;ENSP00000317684:G149S;ENSP00000433720:G94S;ENSP00000436819:G79S	ENSP00000257382:G94S	G	-	1	0	ACRV1	125053010	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.965000	0.01511	-4.271000	0.00060	-0.176000	0.13171	GGC		0.552	ACRV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386722.1	NM_001612		8	162	0	0	0	1	0	8	162				
FBXW7	55294	broad.mit.edu	37	4	153244092	153244092	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr4:153244092G>A	ENST00000281708.4	-	12	3294	c.2065C>T	c.(2065-2067)Cgg>Tgg	p.R689W	FBXW7_ENST00000296555.5_Missense_Mutation_p.R571W|FBXW7_ENST00000263981.5_Missense_Mutation_p.R609W|RP11-461L13.3_ENST00000603766.1_lincRNA|FBXW7_ENST00000603841.1_Missense_Mutation_p.R689W|FBXW7_ENST00000393956.3_Missense_Mutation_p.R513W|FBXW7_ENST00000603548.1_Missense_Mutation_p.R689W	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	689					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R689W(10)|p.R450W(3)|p.R609W(3)|p.R571W(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GTCCCATTCCGACTCCCAACT	0.478			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		18	Substitution - Missense(17)|Unknown(1)	p.R689W(10)|p.R450W(3)|p.R609W(3)|p.R571W(1)|p.?(1)	large_intestine(11)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(2065-2067)Cgg>Tgg		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							172.0	167.0	168.0					4																	153244092		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153244092G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.2065C>T	4.37:g.153244092G>A	ENSP00000281708:p.Arg689Trp					FBXW7_ENST00000603548.1_Missense_Mutation_p.R689W|FBXW7_ENST00000393956.3_Missense_Mutation_p.R513W|FBXW7_ENST00000296555.5_Missense_Mutation_p.R571W|FBXW7_ENST00000263981.5_Missense_Mutation_p.R609W|FBXW7_ENST00000603841.1_Missense_Mutation_p.R689W	p.R689W	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			12	3294	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	689					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.2065C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.475565	0.26511	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	M	0.82923	2.615	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.53892	-0.8374	10	0.87932	D	0	-15.04	14.5904	0.68359	0.0:0.0:0.854:0.146	.	513;689;571;609	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	W	689;571;609;513	ENSP00000281708:R689W;ENSP00000296555:R571W;ENSP00000263981:R609W;ENSP00000377528:R513W	ENSP00000263981:R609W	R	-	1	2	FBXW7	153463542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.906000	0.56340	2.681000	0.91329	0.655000	0.94253	CGG		0.478	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			53	91	0	0	0	1	0	53	91				
PCDHB10	56126	broad.mit.edu	37	5	140572948	140572948	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr5:140572948G>A	ENST00000239446.4	+	1	1007	c.823G>A	c.(823-825)Gcg>Acg	p.A275T		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	275	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGAGTCAACGCGGAAGTATC	0.428																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(823-825)Gcg>Acg									83.0	87.0	86.0					5																	140572948		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140572948G>A	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.823G>A	5.37:g.140572948G>A	ENSP00000239446:p.Ala275Thr						p.A275T	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1007	+			275			Cadherin 3.		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.823G>A	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151681	0.38021	.	.	ENSG00000120324	ENST00000239446	T	0.52295	0.67	3.41	3.41	0.39046	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.62417	0.2426	M	0.65975	2.015	0.36291	D	0.856406	D	0.60160	0.987	P	0.59703	0.862	T	0.74694	-0.3579	9	0.87932	D	0	.	15.0394	0.71777	0.0:0.0:1.0:0.0	.	275	Q9UN67	PCDBA_HUMAN	T	275	ENSP00000239446:A275T	ENSP00000239446:A275T	A	+	1	0	PCDHB10	140553132	1.000000	0.71417	0.043000	0.18650	0.004000	0.04260	5.031000	0.64134	1.930000	0.55929	0.556000	0.70494	GCG		0.428	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		49	59	0	0	0	1	0	49	59				
FLT4	2324	broad.mit.edu	37	5	180048621	180048621	+	Silent	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr5:180048621G>A	ENST00000261937.6	-	13	2019	c.1941C>T	c.(1939-1941)caC>caT	p.H647H	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.H647H|FLT4_ENST00000393347.3_Silent_p.H647H	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	647	Ig-like C2-type 6.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGTGGCCCTCGTGCTCGGGCG	0.687																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1939-1941)caC>caT		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						29.0	27.0	28.0					5																	180048621		2203	4295	6498	SO:0001819	synonymous_variant	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180048621G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1941C>T	5.37:g.180048621G>A						FLT4_ENST00000502649.1_Silent_p.H647H|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Silent_p.H647H	p.H647H	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	13	2019	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	647			Ig-like C2-type 6.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.1941C>T	CCDS4457.1																																																																																				0.687	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			29	36	0	0	0	1	0	29	36				
GATA3	2625	broad.mit.edu	37	10	8097749	8097749	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr10:8097749C>T	ENST00000346208.3	+	2	586	c.131C>T	c.(130-132)cCg>cTg	p.P44L	RP11-379F12.3_ENST00000458727.1_lincRNA|RP11-379F12.4_ENST00000418270.1_lincRNA|GATA3_ENST00000379328.3_Missense_Mutation_p.P44L|GATA3-AS1_ENST00000355358.1_lincRNA			P23771	GATA3_HUMAN	GATA binding protein 3	44					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|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)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|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 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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TACCCGCTGCCGGAGGAGGTG	0.662			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															ENST00000379328.3				Rec	yes		10	10p15	2625	"""F, N, S"""	GATA binding protein 3	yes	"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""	E			breast		0				NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						c.(130-132)cCg>cTg		GATA binding protein 3							30.0	25.0	27.0					10																	8097749		2200	4294	6494	SO:0001583	missense	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8097749C>T	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.131C>T	10.37:g.8097749C>T	ENSP00000341619:p.Pro44Leu					GATA3_ENST00000346208.3_Missense_Mutation_p.P44L	p.P44L	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN			2	699	+			44					Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	c.131C>T	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.632012	0.67015	.	.	ENSG00000107485	ENST00000379328;ENST00000544011;ENST00000346208	D;D	0.97529	-4.42;-4.4	4.72	3.82	0.43975	.	0.441592	0.26069	N	0.026540	D	0.95822	0.8640	M	0.74881	2.28	0.37545	D	0.918473	P;P	0.46142	0.571;0.873	B;B	0.43754	0.081;0.43	D	0.94692	0.7875	9	.	.	.	-16.3786	8.546	0.33421	0.1515:0.7654:0.0:0.0831	.	44;44	P23771;P23771-2	GATA3_HUMAN;.	L	44	ENSP00000368632:P44L;ENSP00000341619:P44L	.	P	+	2	0	GATA3	8137755	0.342000	0.24809	0.218000	0.23776	0.799000	0.45148	4.606000	0.61126	0.970000	0.38263	0.561000	0.74099	CCG		0.662	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		6	9	0	0	0	1	0	6	9				
MUC4	4585	broad.mit.edu	37	3	195511937	195511937	+	Missense_Mutation	SNP	C	C	T	rs201509113	byFrequency	TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr3:195511937C>T	ENST00000463781.3	-	2	6973	c.6514G>A	c.(6514-6516)Ggt>Agt	p.G2172S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.G2172S|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGGCGTGACCTGTGGATGCT	0.577																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(6514-6516)Ggt>Agt		mucin 4, cell surface associated							12.0	15.0	14.0					3																	195511937		652	1533	2185	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195511937C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6514G>A	3.37:g.195511937C>T	ENSP00000417498:p.Gly2172Ser					MUC4_ENST00000475231.1_Missense_Mutation_p.G2172S|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	p.G2172S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	6973	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	951					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.6514G>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	C	7.497	0.651958	0.14516	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.28666	1.6;1.67	.	.	.	.	.	.	.	.	T	0.29976	0.0750	N	0.19112	0.55	0.09310	N	0.999998	D	0.56746	0.977	D	0.63488	0.915	T	0.11084	-1.0602	7	.	.	.	.	3.4513	0.07499	0.4478:0.552:1.0E-4:1.0E-4	.	2172	E7ESK3	.	S	2172	ENSP00000417498:G2172S;ENSP00000420243:G2172S	.	G	-	1	0	MUC4	196996332	0.229000	0.23729	0.002000	0.10522	0.068000	0.16541	1.016000	0.29976	0.488000	0.27723	0.064000	0.15345	GGT		0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	5	0	0	0	1	0	3	5				
AGRN	375790	broad.mit.edu	37	1	985881	985881	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:985881C>G	ENST00000379370.2	+	29	5101	c.5051C>G	c.(5050-5052)aCg>aGg	p.T1684R		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1684	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGGCAGAAGACGGACGGCAAG	0.692																																						ENST00000379370.2																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(5050-5052)aCg>aGg		agrin							34.0	41.0	38.0					1																	985881		2203	4300	6503	SO:0001583	missense	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:985881C>G	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.5051C>G	1.37:g.985881C>G	ENSP00000368678:p.Thr1684Arg						p.T1684R	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	29	5101	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	1684			Laminin G-like 2.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	c.5051C>G	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.938880	0.52972	.	.	ENSG00000188157	ENST00000379370;ENST00000379364	T	0.75821	-0.97	4.85	4.85	0.62838	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.099482	0.41097	U	0.000953	T	0.80803	0.4693	L	0.50847	1.595	0.58432	D	0.99999	D	0.76494	0.999	D	0.70016	0.967	T	0.76732	-0.2851	10	0.19590	T	0.45	-11.4664	15.1873	0.73012	0.0:0.8588:0.1412:0.0	.	1684	O00468	AGRIN_HUMAN	R	1684;23	ENSP00000368678:T1684R	ENSP00000368671:T23R	T	+	2	0	AGRN	975744	0.997000	0.39634	0.816000	0.32577	0.009000	0.06853	3.626000	0.54245	2.250000	0.74265	0.479000	0.44913	ACG		0.692	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		11	117	0	0	0	1	0	11	117				
MYH9	4627	broad.mit.edu	37	22	36696961	36696961	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr22:36696961T>A	ENST00000216181.5	-	22	3004	c.2774A>T	c.(2773-2775)gAg>gTg	p.E925V		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	925					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTCCTCCTCCTCCACCCTGGC	0.647			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(2773-2775)gAg>gTg		myosin, heavy chain 9, non-muscle							73.0	80.0	78.0					22																	36696961		2203	4300	6503	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36696961T>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2774A>T	22.37:g.36696961T>A	ENSP00000216181:p.Glu925Val						p.E925V	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			22	3004	-			925					A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.2774A>T	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.993641	0.93167	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.75589	-0.95	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.87454	0.6181	H	0.96175	3.78	0.80722	D	1	P	0.50819	0.939	P	0.52066	0.689	D	0.91559	0.5263	10	0.87932	D	0	.	15.352	0.74396	0.0:0.0:0.0:1.0	.	925	P35579	MYH9_HUMAN	V	789;925	ENSP00000216181:E925V	ENSP00000216181:E925V	E	-	2	0	MYH9	35026907	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	8.040000	0.89188	2.104000	0.64026	0.533000	0.62120	GAG		0.647	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		4	126	0	0	0	1	0	4	126				
TSC22D1	8848	broad.mit.edu	37	13	45148061	45148061	+	Missense_Mutation	SNP	G	G	T	rs374971486		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr13:45148061G>T	ENST00000458659.2	-	1	2640	c.2150C>A	c.(2149-2151)cCg>cAg	p.P717Q	TSC22D1_ENST00000460842.1_5'Flank|TSC22D1_ENST00000501704.2_Intron	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	717	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CACTGCTGCCGGAGCCTGGCC	0.577																																						ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2149-2151)cCg>cAg		TSC22 domain family, member 1							42.0	45.0	44.0					13																	45148061		2203	4300	6503	SO:0001583	missense	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45148061G>T	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.2150C>A	13.37:g.45148061G>T	ENSP00000397435:p.Pro717Gln					TSC22D1_ENST00000501704.2_Intron	p.P717Q	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	2640	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	717			Gln-rich.		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	37	c.2150C>A	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	g	0.774	-0.764593	0.02996	.	.	ENSG00000102804	ENST00000458659	T	0.26373	1.74	4.77	0.723	0.18231	.	0.475551	0.19597	N	0.110467	T	0.10637	0.0260	N	0.04880	-0.145	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34950	-0.9808	10	0.02654	T	1	.	14.7188	0.69289	0.0:0.0:0.6805:0.3194	.	717	Q15714	T22D1_HUMAN	Q	717	ENSP00000397435:P717Q	ENSP00000397435:P717Q	P	-	2	0	TSC22D1	44046061	0.489000	0.26004	0.230000	0.23976	0.953000	0.61014	0.637000	0.24659	-0.008000	0.14320	-0.532000	0.04303	CCG		0.577	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		16	205	1	0	6.72482e-11	1	7.47965e-11	16	205				
FCRL2	79368	broad.mit.edu	37	1	157739929	157739929	+	Missense_Mutation	SNP	G	G	A	rs139872242		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:157739929G>A	ENST00000361516.3	-	4	370	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C	FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Missense_Mutation_p.R108C|FCRL2_ENST00000469986.1_5'Flank	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	108					cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGCACAGGACGTTGAAAGAGC	0.527																																						ENST00000361516.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51						c.(322-324)Cgt>Tgt		Fc receptor-like 2		G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	41.0	42.0	41.0		322	-8.2	0.0	1	dbSNP_134	41	0,8600		0,0,4300	no	missense	FCRL2	NM_030764.3	180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	108/509	157739929	2,13004	2203	4300	6503	SO:0001583	missense	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	g.chr1:157739929G>A	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.322C>T	1.37:g.157739929G>A	ENSP00000355157:p.Arg108Cys					FCRL2_ENST00000392274.3_Missense_Mutation_p.R108C|FCRL2_ENST00000368181.4_Intron	p.R108C	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	370	-	all_hematologic(112;0.0378)		108					A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	ENST00000361516.3	37	c.322C>T	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.543164	0.45280	4.54E-4	0.0	ENSG00000132704	ENST00000361516;ENST00000392274	T;T	0.03441	3.93;3.93	4.09	-8.17	0.01057	.	2.705170	0.01778	N	0.031574	T	0.02571	0.0078	M	0.69823	2.125	0.09310	N	1	D;B;B	0.64830	0.994;0.074;0.073	P;B;B	0.55011	0.766;0.037;0.098	T	0.42916	-0.9423	10	0.52906	T	0.07	.	0.5204	0.00611	0.195:0.2178:0.2625:0.3246	.	108;108;108	B4E0W2;B4DVJ9;Q96LA5	.;.;FCRL2_HUMAN	C	108	ENSP00000355157:R108C;ENSP00000376100:R108C	ENSP00000355157:R108C	R	-	1	0	FCRL2	156006553	0.000000	0.05858	0.000000	0.03702	0.151000	0.21798	-2.271000	0.01166	-2.282000	0.00673	0.591000	0.81541	CGT		0.527	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764		38	30	0	0	0	1	0	38	30				
TSHZ3	57616	broad.mit.edu	37	19	31768484	31768484	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr19:31768484G>T	ENST00000240587.4	-	2	2542	c.2215C>A	c.(2215-2217)Ccc>Acc	p.P739T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	739					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGCAGGGAGGGCTTGGCGGCC	0.617																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(2215-2217)Ccc>Acc		teashirt zinc finger homeobox 3							58.0	60.0	59.0					19																	31768484		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31768484G>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2215C>A	19.37:g.31768484G>T	ENSP00000240587:p.Pro739Thr						p.P739T	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	2542	-	Esophageal squamous(110;0.226)		739					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.2215C>A	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928475	0.73327	.	.	ENSG00000121297	ENST00000240587	T	0.40225	1.04	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.62085	0.2399	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.62891	-0.6758	10	0.59425	D	0.04	-27.8056	19.1085	0.93307	0.0:0.0:1.0:0.0	.	739	Q63HK5	TSH3_HUMAN	T	739	ENSP00000240587:P739T	ENSP00000240587:P739T	P	-	1	0	TSHZ3	36460324	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.441000	0.97557	2.501000	0.84356	0.655000	0.94253	CCC		0.617	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		43	90	1	0	6.45866e-13	1	7.33327e-13	43	90				
FOLR3	2352	broad.mit.edu	37	11	71847090	71847090	+	Missense_Mutation	SNP	C	C	T	rs371010355		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr11:71847090C>T	ENST00000445078.2	+	2	157	c.86C>T	c.(85-87)aCg>aTg	p.T29M	FOLR3_ENST00000442948.2_Missense_Mutation_p.T31M|FOLR3_ENST00000456237.1_Missense_Mutation_p.T31M			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	29					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	CGGGCCAGGACGGACCTGCTC	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		20165	0.001		0.0	False		,,,				2504	0.0					ENST00000445078.2																			0				large_intestine(3)|lung(8)|prostate(2)	13						c.(85-87)aCg>aTg		folate receptor 3 (gamma)	Folic Acid(DB00158)	C	MET/THR	0,4400		0,0,2200	110.0	114.0	112.0		92	-2.1	0.0	11		112	4,8582		0,4,4289	no	missense	FOLR3	NM_000804.2	81	0,4,6489	TT,TC,CC		0.0466,0.0,0.0308	possibly-damaging	31/246	71847090	4,12982	2200	4293	6493	SO:0001583	missense	2352				folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity	g.chr11:71847090C>T	U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.86C>T	11.37:g.71847090C>T	ENSP00000390338:p.Thr29Met					FOLR3_ENST00000456237.1_Missense_Mutation_p.T31M|FOLR3_ENST00000442948.2_Missense_Mutation_p.T31M	p.T29M			P41439	FOLR3_HUMAN			2	157	+			29					J3KQ90|Q05C14	Missense_Mutation	SNP	ENST00000445078.2	37	c.86C>T		.	.	.	.	.	.	.	.	.	.	N	13.15	2.150568	0.37923	0.0	4.66E-4	ENSG00000110203	ENST00000445078;ENST00000456237;ENST00000442948;ENST00000546166	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	3.4	-2.14	0.07123	.	2.124270	0.03408	U	0.204329	T	0.37489	0.1005	.	.	.	0.09310	N	1	B;P	0.43826	0.38;0.818	B;B	0.28991	0.035;0.097	T	0.40961	-0.9535	9	0.48119	T	0.1	.	1.0724	0.01624	0.2272:0.3983:0.1412:0.2334	.	31;29	E9PGT2;P41439	.;FOLR3_HUMAN	M	29;31;31;29	ENSP00000390338:T29M;ENSP00000399235:T31M;ENSP00000411161:T31M;ENSP00000446279:T29M	ENSP00000325032:T29M	T	+	2	0	FOLR3	71524738	0.000000	0.05858	0.001000	0.08648	0.051000	0.14879	-2.104000	0.01340	0.011000	0.14865	0.491000	0.48974	ACG		0.622	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000396739.1	NM_000804		30	166	0	0	0	1	0	30	166				
NPAP1	23742	broad.mit.edu	37	15	24921045	24921045	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr15:24921045G>A	ENST00000329468.2	+	1	505	c.31G>A	c.(31-33)Ggg>Agg	p.G11R		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	11					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											ATTTAGACCCGGGTGCCGCCG	0.662																																						ENST00000329468.2																			0											c.(31-33)Ggg>Agg		nuclear pore associated protein 1							5.0	7.0	6.0					15																	24921045		2058	4094	6152	SO:0001583	missense	23742							g.chr15:24921045G>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.31G>A	15.37:g.24921045G>A	ENSP00000333735:p.Gly11Arg						p.G11R	NM_018958.2	NP_061831.2					1	505	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.31G>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	11.91	1.780813	0.31502	.	.	ENSG00000185823	ENST00000329468	T	0.08282	3.11	2.31	-4.63	0.03359	.	.	.	.	.	T	0.03220	0.0094	N	0.14661	0.345	0.09310	N	1	B	0.22851	0.076	B	0.09377	0.004	T	0.41161	-0.9524	9	0.21540	T	0.41	.	2.1971	0.03914	0.1428:0.182:0.4413:0.234	.	11	Q9NZP6	CO002_HUMAN	R	11	ENSP00000333735:G11R	ENSP00000333735:G11R	G	+	1	0	C15orf2	22472138	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.622000	0.00877	-1.888000	0.01113	-1.478000	0.00992	GGG		0.662	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		7	8	0	0	0	1	0	7	8				
FRG1B	284802	broad.mit.edu	37	20	29625905	29625905	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr20:29625905T>C	ENST00000278882.3	+	5	529	c.149T>C	c.(148-150)cTt>cCt	p.L50P	FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P|FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	50								p.L50P(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGAAAATATCTTGGTATAAAT	0.333																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L50P(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(148-150)cTt>cCt																																						SO:0001583	missense	0							g.chr20:29625905T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.149T>C	20.37:g.29625905T>C	ENSP00000278882:p.Leu50Pro					FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P|FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P	p.L50P							5	529	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.149T>C		.	.	.	.	.	.	.	.	.	.	t	10.74	1.434729	0.25813	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.56611	0.45	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	55	F5H5R5	.	P	50;55;50	ENSP00000408863:L55P	ENSP00000278882:L50P	L	+	2	0	FRG1B	28239566	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	6.623000	0.74238	1.028000	0.39785	0.155000	0.16302	CTT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	165	0	0	0	1	0	5	165				
GRIA1	2890	broad.mit.edu	37	5	153149777	153149777	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr5:153149777C>A	ENST00000285900.5	+	13	2415	c.2072C>A	c.(2071-2073)gCa>gAa	p.A691E	GRIA1_ENST00000448073.4_Missense_Mutation_p.A701E|GRIA1_ENST00000518142.1_Missense_Mutation_p.A611E|GRIA1_ENST00000521843.2_Missense_Mutation_p.A622E|GRIA1_ENST00000518783.1_Missense_Mutation_p.A701E|GRIA1_ENST00000340592.5_Missense_Mutation_p.A691E	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	691					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	ATGAAGTCAGCAGAGCCATCA	0.473																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2071-2073)gCa>gAa		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						153.0	142.0	146.0					5																	153149777		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153149777C>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2072C>A	5.37:g.153149777C>A	ENSP00000285900:p.Ala691Glu					GRIA1_ENST00000518783.1_Missense_Mutation_p.A701E|GRIA1_ENST00000518142.1_Missense_Mutation_p.A611E|GRIA1_ENST00000340592.5_Missense_Mutation_p.A691E|GRIA1_ENST00000448073.4_Missense_Mutation_p.A701E|GRIA1_ENST00000521843.2_Missense_Mutation_p.A622E	p.A691E	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		13	2415	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	691					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2072C>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606311	0.87157	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.41	5.41	0.78517	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.56645	0.1999	L	0.49126	1.545	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.993;1.0;0.996	D;D;P;D;D	0.91635	0.999;0.999;0.857;0.999;0.938	T	0.57854	-0.7739	10	0.72032	D	0.01	.	18.1724	0.89751	0.0:1.0:0.0:0.0	.	701;701;611;691;691	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	E	691;691;611;645;691;624;622;701;701	ENSP00000285900:A691E;ENSP00000427920:A611E;ENSP00000339343:A691E;ENSP00000427864:A624E;ENSP00000442108:A622E;ENSP00000428994:A701E;ENSP00000415569:A701E	ENSP00000285900:A691E	A	+	2	0	GRIA1	153129970	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.642000	0.83385	2.525000	0.85131	0.655000	0.94253	GCA		0.473	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			39	123	1	0	1.66425e-11	1	1.87014e-11	39	123				
FANCD2	2177	broad.mit.edu	37	3	10142903	10142903	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr3:10142903A>G	ENST00000419585.1	+	44	4474	c.4313A>G	c.(4312-4314)gAa>gGa	p.E1438G	FANCD2_ENST00000383806.1_3'UTR|FANCD2_ENST00000383807.1_Missense_Mutation_p.E1438G|FANCD2OS_ENST00000524279.1_Intron			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1438					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AGTGCTGGAGAAAAGGAGCAA	0.428			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000419585.1			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(4312-4314)gAa>gGa	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							211.0	191.0	198.0					3																	10142903		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10142903A>G	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.4313A>G	3.37:g.10142903A>G	ENSP00000398754:p.Glu1438Gly					FANCD2_ENST00000383807.1_Missense_Mutation_p.E1438G|FANCD2_ENST00000383806.1_3'UTR|FANCD2OS_ENST00000524279.1_Intron	p.E1438G			Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	44	4474	+			0					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.4313A>G	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	A	10.09	1.254254	0.22965	.	.	ENSG00000144554	ENST00000383807;ENST00000419585	T;T	0.51817	0.69;0.69	4.43	2.08	0.27032	.	.	.	.	.	T	0.33147	0.0853	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.15752	-1.0426	8	0.46703	T	0.11	.	5.2544	0.15539	0.7608:0.0:0.2392:0.0	.	1438	Q9BXW9-2	.	G	1438	ENSP00000373318:E1438G;ENSP00000398754:E1438G	ENSP00000373318:E1438G	E	+	2	0	FANCD2	10117903	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	1.316000	0.33620	0.834000	0.34852	0.529000	0.55759	GAA		0.428	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			9	75	0	0	0	1	0	9	75				
MUC4	4585	broad.mit.edu	37	3	195511678	195511678	+	Missense_Mutation	SNP	G	G	A	rs71617310		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr3:195511678G>A	ENST00000463781.3	-	2	7232	c.6773C>T	c.(6772-6774)cCt>cTt	p.P2258L	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P2258L|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTCGGTGACAGGAAGAGGGGT	0.577																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(6772-6774)cCt>cTt		mucin 4, cell surface associated							31.0	30.0	30.0					3																	195511678		685	1584	2269	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195511678G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6773C>T	3.37:g.195511678G>A	ENSP00000417498:p.Pro2258Leu					MUC4_ENST00000475231.1_Missense_Mutation_p.P2258L|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	p.P2258L	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	7232	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	27					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.6773C>T	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	G	4.085	0.013697	0.07959	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32272	1.5;1.46	.	.	.	.	.	.	.	.	T	0.26738	0.0654	N	0.19112	0.55	0.09310	N	1	P	0.48350	0.909	P	0.52909	0.713	T	0.14172	-1.0482	6	.	.	.	.	.	.	.	.	2258	E7ESK3	.	L	2258	ENSP00000417498:P2258L;ENSP00000420243:P2258L	.	P	-	2	0	MUC4	196996073	0.157000	0.22836	0.004000	0.12327	0.098000	0.18820	1.392000	0.34486	0.488000	0.27723	0.064000	0.15345	CCT		0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	11	0	0	0	1	0	3	11				
CSMD2	114784	broad.mit.edu	37	1	34180304	34180304	+	Missense_Mutation	SNP	C	C	T	rs141181841		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:34180304C>T	ENST00000373381.4	-	21	3465	c.3289G>A	c.(3289-3291)Gtg>Atg	p.V1097M		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1057						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTGTCGCCCACGCCAAACTGC	0.662																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(3289-3291)Gtg>Atg		CUB and Sushi multiple domains 2							70.0	73.0	72.0					1																	34180304		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34180304C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.3289G>A	1.37:g.34180304C>T	ENSP00000362479:p.Val1097Met						p.V1097M	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			21	3465	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1057					B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.3289G>A		.	.	.	.	.	.	.	.	.	.	C	23.8	4.461864	0.84425	.	.	ENSG00000121904	ENST00000373381	T	0.67698	-0.28	5.85	5.85	0.93711	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.83031	0.5166	M	0.79343	2.45	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.998	D	0.83499	0.0074	10	0.59425	D	0.04	.	19.1531	0.93496	0.0:1.0:0.0:0.0	.	1057;1097	Q7Z408;E7EUA6	CSMD2_HUMAN;.	M	1097	ENSP00000362479:V1097M	ENSP00000241312:V1057M	V	-	1	0	CSMD2	33952891	1.000000	0.71417	0.993000	0.49108	0.452000	0.32318	7.818000	0.86416	2.753000	0.94483	0.655000	0.94253	GTG		0.662	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		139	67	0	0	0	1	0	139	67				
STK32C	282974	broad.mit.edu	37	10	134040384	134040384	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr10:134040384G>T	ENST00000368622.1	-	4	589	c.208C>A	c.(208-210)Cag>Aag	p.Q70K	STK32C_ENST00000368625.4_Missense_Mutation_p.Q200K					serine/threonine kinase 32C											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		TCGGAGAACTGCACGTTCTGC	0.622																																						ENST00000368622.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23						c.(208-210)Cag>Aag		serine/threonine kinase 32C							175.0	116.0	136.0					10																	134040384		2203	4300	6503	SO:0001583	missense	282974						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr10:134040384G>T	AK057849	CCDS7666.1	10q26.3	2004-07-22			ENSG00000165752	ENSG00000165752			21332	protein-coding gene	gene with protein product							Standard	NM_173575		Approved	PKE, MGC23665, YANK3	uc001lle.1	Q86UX6	OTTHUMG00000019285	ENST00000368622.1:c.208C>A	10.37:g.134040384G>T	ENSP00000357611:p.Gln70Lys					STK32C_ENST00000368625.4_Missense_Mutation_p.Q200K	p.Q70K			Q86UX6	ST32C_HUMAN		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)	4	589	-		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)	187						Missense_Mutation	SNP	ENST00000368622.1	37	c.208C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.95|15.95	2.985057|2.985057	0.53934|0.53934	.|.	.|.	ENSG00000165752|ENSG00000165752	ENST00000368620|ENST00000368622;ENST00000298630;ENST00000368625	.|T;T;T	.|0.22945	.|1.93;1.93;1.93	4.75|4.75	4.75|4.75	0.60458|0.60458	.|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	.|0.000015	T|T	0.18676|0.18676	0.0448|0.0448	N|N	0.02539|0.02539	-0.55|-0.55	0.58432|0.58432	D|D	0.999999|0.999999	.|P;B;B	.|0.42248	.|0.774;0.009;0.002	.|P;B;B	.|0.48873	.|0.593;0.017;0.055	T|T	0.36016|0.36016	-0.9765|-0.9765	6|10	0.87932|0.33940	D|T	0|0.23	.|.	17.78|17.78	0.88520|0.88520	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|200;126;187	.|B7Z7J1;F2Z300;Q86UX6	.|.;.;ST32C_HUMAN	E|K	257|70;187;200	.|ENSP00000357611:Q70K;ENSP00000298630:Q187K;ENSP00000357614:Q200K	ENSP00000357609:A257E|ENSP00000298630:Q187K	A|Q	-|-	2|1	0|0	STK32C|STK32C	133890374|133890374	1.000000|1.000000	0.71417|0.71417	0.946000|0.946000	0.38457|0.38457	0.896000|0.896000	0.52359|0.52359	7.284000|7.284000	0.78650|0.78650	2.207000|2.207000	0.71202|0.71202	0.460000|0.460000	0.39030|0.39030	GCA|CAG		0.622	STK32C-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051068.2	NM_173575		69	64	1	0	2.02627e-32	1	2.37488e-32	69	64				
OR2T27	403239	broad.mit.edu	37	1	248813672	248813672	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:248813672G>C	ENST00000344889.3	-	1	513	c.514C>G	c.(514-516)Cgg>Ggg	p.R172G		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTGATCTCCCGAGAGGCACAG	0.557																																						ENST00000344889.3																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32						c.(514-516)Cgg>Ggg		olfactory receptor, family 2, subfamily T, member 27							17.0	7.0	11.0					1																	248813672		2123	3806	5929	SO:0001583	missense	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248813672G>C		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.514C>G	1.37:g.248813672G>C	ENSP00000342008:p.Arg172Gly						p.R172G	NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	513	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	172						Missense_Mutation	SNP	ENST00000344889.3	37	c.514C>G	CCDS31124.1	.	.	.	.	.	.	.	.	.	.	.	6.969	0.548776	0.13312	.	.	ENSG00000187701	ENST00000344889	T	0.00115	8.71	3.3	-0.117	0.13551	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37437	N	0.002087	T	0.00178	0.0005	M	0.74881	2.28	0.09310	N	1	B	0.26363	0.147	B	0.33690	0.168	T	0.46721	-0.9171	10	0.72032	D	0.01	.	1.6089	0.02689	0.1162:0.1756:0.3503:0.3579	.	172	Q8NH04	O2T27_HUMAN	G	172	ENSP00000342008:R172G	ENSP00000342008:R172G	R	-	1	2	OR2T27	246880295	0.000000	0.05858	0.013000	0.15412	0.103000	0.19146	0.041000	0.13927	0.221000	0.20879	0.194000	0.17425	CGG		0.557	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		15	127	0	0	0	1	0	15	127				
THBS2	7058	broad.mit.edu	37	6	169623562	169623562	+	Missense_Mutation	SNP	G	G	A	rs182173220	byFrequency	TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr6:169623562G>A	ENST00000366787.3	-	19	3031	c.2782C>T	c.(2782-2784)Cgg>Tgg	p.R928W	THBS2_ENST00000488355.1_5'Flank|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	928					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		ATATCACCCCGTCCATCACCT	0.403													G|||	3	0.000599042	0.0008	0.0	5008	,	,		21293	0.001		0.001	False		,,,				2504	0.0				Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(2782-2784)Cgg>Tgg		thrombospondin 2							96.0	88.0	90.0					6																	169623562		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169623562G>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2782C>T	6.37:g.169623562G>A	ENSP00000355751:p.Arg928Trp					XXyac-YX65C7_A.2_ENST00000444188.1_RNA	p.R928W	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	19	3031	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	928					A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.2782C>T	CCDS34574.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.39	1.924518	0.34002	.	.	ENSG00000186340	ENST00000366787;ENST00000392099	D	0.98493	-4.96	4.73	1.4	0.22301	.	0.000000	0.38720	U	0.001600	D	0.98732	0.9574	M	0.87827	2.91	0.43061	D	0.994681	D	0.89917	1.0	D	0.97110	1.0	D	0.99787	1.1030	10	0.72032	D	0.01	-40.5763	15.3828	0.74673	0.0:0.0:0.5832:0.4168	.	928	P35442	TSP2_HUMAN	W	928;186	ENSP00000355751:R928W	ENSP00000355751:R928W	R	-	1	2	THBS2	169365487	0.988000	0.35896	0.961000	0.40146	0.311000	0.27955	1.695000	0.37763	0.378000	0.24764	-0.553000	0.04205	CGG		0.403	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		4	52	0	0	0	1	0	4	52				
ASXL3	80816	broad.mit.edu	37	18	31325498	31325498	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr18:31325498C>A	ENST00000269197.5	+	12	5686	c.5686C>A	c.(5686-5688)Cag>Aag	p.Q1896K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1896					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(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGAGGTCAAACAGCAAAAGCG	0.507																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(5686-5688)Cag>Aag		additional sex combs like 3 (Drosophila)							156.0	158.0	157.0					18																	31325498		2032	4180	6212	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31325498C>A	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5686C>A	18.37:g.31325498C>A	ENSP00000269197:p.Gln1896Lys						p.Q1896K	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	5686	+			1896					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.5686C>A	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.264345	0.59431	.	.	ENSG00000141431	ENST00000269197	T	0.20738	2.05	5.59	5.59	0.84812	.	.	.	.	.	T	0.35278	0.0926	L	0.27053	0.805	0.44330	D	0.997219	D	0.63880	0.993	D	0.67548	0.952	T	0.05886	-1.0858	9	0.51188	T	0.08	.	19.5908	0.95509	0.0:1.0:0.0:0.0	.	1896	Q9C0F0	ASXL3_HUMAN	K	1896	ENSP00000269197:Q1896K	ENSP00000269197:Q1896K	Q	+	1	0	ASXL3	29579496	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	5.666000	0.68059	2.619000	0.88677	0.655000	0.94253	CAG		0.507	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			28	430	1	0	2.14196e-07	1	2.31161e-07	28	430				
ASPM	259266	broad.mit.edu	37	1	197060125	197060125	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:197060125T>A	ENST00000367409.4	-	23	9747	c.9491A>T	c.(9490-9492)tAt>tTt	p.Y3164F	ASPM_ENST00000367408.1_Missense_Mutation_p.Y829F|ASPM_ENST00000294732.7_Missense_Mutation_p.Y1579F	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3164					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GATGCTATGATATTTCTGAAT	0.343																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(9490-9492)tAt>tTt		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							93.0	91.0	92.0					1																	197060125		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197060125T>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.9491A>T	1.37:g.197060125T>A	ENSP00000356379:p.Tyr3164Phe					ASPM_ENST00000294732.7_Missense_Mutation_p.Y1579F|ASPM_ENST00000367408.1_Missense_Mutation_p.Y829F	p.Y3164F	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			23	9747	-			3164					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.9491A>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	T	10.29	1.310459	0.23821	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	T;T;T	0.58210	0.35;1.62;1.31	4.62	-3.21	0.05140	.	0.728207	0.12949	N	0.425933	T	0.37544	0.1007	L	0.53249	1.67	0.09310	N	1	B;B;P	0.34562	0.072;0.072;0.457	B;B;B	0.33846	0.059;0.059;0.171	T	0.35201	-0.9798	10	0.12430	T	0.62	.	7.2597	0.26197	0.0:0.4868:0.1376:0.3756	.	1150;1579;3164	E7EQ84;Q4G1H1;Q8IZT6	.;.;ASPM_HUMAN	F	3164;1579;829;1150	ENSP00000356379:Y3164F;ENSP00000294732:Y1579F;ENSP00000356378:Y829F	ENSP00000294732:Y1579F	Y	-	2	0	ASPM	195326748	0.000000	0.05858	0.000000	0.03702	0.351000	0.29236	-1.418000	0.02462	-0.390000	0.07774	-0.589000	0.04120	TAT		0.343	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		6	44	0	0	0	1	0	6	44				
MRPS7	51081	broad.mit.edu	37	17	73258657	73258657	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr17:73258657G>C	ENST00000245539.6	+	2	390	c.163G>C	c.(163-165)Gtg>Ctg	p.V55L	GGA3_ENST00000245541.6_5'Flank|GGA3_ENST00000578348.1_5'Flank|GGA3_ENST00000582717.1_5'Flank|GGA3_ENST00000582486.1_5'Flank|GGA3_ENST00000579743.1_5'Flank|MRPS7_ENST00000579002.1_Missense_Mutation_p.V84L|GGA3_ENST00000538886.1_5'Flank|MRPS7_ENST00000579761.1_Missense_Mutation_p.V55L|GGA3_ENST00000351904.7_5'Flank|GGA3_ENST00000537686.1_5'Flank	NM_015971.3	NP_057055.2	Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	55					translation (GO:0006412)	cytosolic small ribosomal subunit (GO:0022627)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			TCGCAAGCCAGTGGAGGAGCT	0.493																																						ENST00000579761.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6						c.(163-165)Gtg>Ctg		mitochondrial ribosomal protein S7							149.0	156.0	154.0					17																	73258657		2203	4300	6503	SO:0001583	missense	51081				translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome	g.chr17:73258657G>C	AB051348	CCDS11718.1	17q25.1	2012-09-13				ENSG00000125445		"""Mitochondrial ribosomal proteins / small subunits"""	14499	protein-coding gene	gene with protein product		611974					Standard	NM_015971		Approved	MRP-S, RP-S7, RPMS7	uc002jnm.4	Q9Y2R9		ENST00000245539.6:c.163G>C	17.37:g.73258657G>C	ENSP00000245539:p.Val55Leu					MRPS7_ENST00000245539.6_Missense_Mutation_p.V55L|MRPS7_ENST00000579002.1_Missense_Mutation_p.V84L	p.V55L			Q9Y2R9	RT07_HUMAN	all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)		2	390	+	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		55					B2R9N5|Q53GD6	Missense_Mutation	SNP	ENST00000245539.6	37	c.163G>C	CCDS11718.1	.	.	.	.	.	.	.	.	.	.	G	9.571	1.120917	0.20877	.	.	ENSG00000125445	ENST00000245539	T	0.41065	1.01	5.57	-3.63	0.04529	Ribosomal protein S7 domain (2);	0.782771	0.12205	N	0.489851	T	0.12987	0.0315	N	0.05306	-0.075	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33189	-0.9878	10	0.02654	T	1	-1.5635	3.8723	0.09042	0.0839:0.3361:0.3198:0.2603	.	55	Q9Y2R9	RT07_HUMAN	L	55	ENSP00000245539:V55L	ENSP00000245539:V55L	V	+	1	0	MRPS7	70770252	0.000000	0.05858	0.004000	0.12327	0.349000	0.29174	-0.375000	0.07475	-0.164000	0.10927	0.650000	0.86243	GTG		0.493	MRPS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446666.1	NM_015971		12	221	0	0	0	1	0	12	221				
AGMO	392636	broad.mit.edu	37	7	15601455	15601455	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr7:15601455C>T	ENST00000342526.3	-	1	185	c.16G>A	c.(16-18)Gcc>Acc	p.A6T		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	6					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TCCTGCTGGGCTTCTGGGTTC	0.448																																						ENST00000342526.3																			0				breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						c.(16-18)Gcc>Acc		alkylglycerol monooxygenase							106.0	102.0	103.0					7																	15601455		2203	4300	6503	SO:0001583	missense	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15601455C>T		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.16G>A	7.37:g.15601455C>T	ENSP00000341662:p.Ala6Thr						p.A6T	NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN			1	185	-			6					A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.16G>A	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398278	0.42512	.	.	ENSG00000187546	ENST00000342526	T	0.31510	1.49	5.93	5.04	0.67666	.	0.481200	0.21678	N	0.070762	T	0.23926	0.0579	L	0.36672	1.1	0.25367	N	0.988733	B	0.10296	0.003	B	0.08055	0.003	T	0.06661	-1.0814	10	0.46703	T	0.11	-4.868	9.7781	0.40632	0.0:0.8495:0.0:0.1505	.	6	Q6ZNB7	ALKMO_HUMAN	T	6	ENSP00000341662:A6T	ENSP00000341662:A6T	A	-	1	0	AGMO	15567980	0.925000	0.31364	0.997000	0.53966	0.866000	0.49608	1.302000	0.33459	2.814000	0.96858	0.655000	0.94253	GCC		0.448	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		12	106	0	0	0	1	0	12	106				
MS4A7	58475	broad.mit.edu	37	11	60161317	60161317	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr11:60161317T>A	ENST00000300184.3	+	7	902	c.706T>A	c.(706-708)Tca>Aca	p.S236T	MS4A7_ENST00000534016.1_Missense_Mutation_p.S191T|MS4A7_ENST00000358246.1_Missense_Mutation_p.S191T|MS4A14_ENST00000395005.2_5'Flank|MS4A14_ENST00000531783.1_5'Flank|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395001.1_5'Flank|MS4A14_ENST00000300187.6_5'Flank|MS4A7_ENST00000530234.2_Intron	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	236						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						AAAGAGTTCTTCACGGTCTTG	0.373																																						ENST00000358246.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						c.(571-573)Tca>Aca		membrane-spanning 4-domains, subfamily A, member 7							104.0	103.0	103.0					11																	60161317		2203	4300	6503	SO:0001583	missense	58475					integral to membrane	receptor activity	g.chr11:60161317T>A	AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.706T>A	11.37:g.60161317T>A	ENSP00000300184:p.Ser236Thr					MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000300184.3_Missense_Mutation_p.S236T|MS4A7_ENST00000530234.2_Intron|MS4A7_ENST00000534016.1_Missense_Mutation_p.S191T	p.S191T	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN			6	764	+			236					A6NP53|Q6IAG8	Missense_Mutation	SNP	ENST00000300184.3	37	c.571T>A	CCDS7985.1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.811360	0.32053	.	.	ENSG00000166927	ENST00000300184;ENST00000358246;ENST00000534016	T;T;T	0.16324	3.11;2.35;2.35	3.79	1.47	0.22746	.	3.510310	0.01958	U	0.043108	T	0.13072	0.0317	N	0.08118	0	0.09310	N	1	D;P	0.54964	0.969;0.948	P;B	0.50192	0.634;0.431	T	0.21724	-1.0237	10	0.19147	T	0.46	-49.3741	5.2118	0.15320	0.0:0.242:0.0:0.758	.	191;236	Q9GZW8-2;Q9GZW8	.;MS4A7_HUMAN	T	236;191;191	ENSP00000300184:S236T;ENSP00000350983:S191T;ENSP00000434637:S191T	ENSP00000300184:S236T	S	+	1	0	MS4A7	59917893	0.006000	0.16342	0.001000	0.08648	0.028000	0.11728	0.344000	0.19962	0.314000	0.23086	0.383000	0.25322	TCA		0.373	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1			5	49	0	0	0	1	0	5	49				
WBSCR17	64409	broad.mit.edu	37	7	70853251	70853251	+	Silent	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr7:70853251G>A	ENST00000333538.5	+	3	1087	c.453G>A	c.(451-453)ctG>ctA	p.L151L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	151	Catalytic subdomain A.				protein glycosylation (GO:0006486)	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)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCAAGGACCTGCCCCAGATAT	0.542																																						ENST00000333538.5																			0				NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(451-453)ctG>ctA		Williams-Beuren syndrome chromosome region 17							116.0	105.0	109.0					7																	70853251		2203	4300	6503	SO:0001819	synonymous_variant	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70853251G>A	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.453G>A	7.37:g.70853251G>A						WBSCR17_ENST00000498380.2_3'UTR	p.L151L	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN			3	1087	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	151			Catalytic subdomain A.		Q8NFV9|Q9NTA8	Silent	SNP	ENST00000333538.5	37	c.453G>A	CCDS5540.1																																																																																				0.542	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		6	66	0	0	0	1	0	6	66				
CROCCP2	84809	broad.mit.edu	37	1	16957241	16957241	+	lincRNA	SNP	C	C	A	rs570071036	byFrequency	TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:16957241C>A	ENST00000412962.1	-	0	294							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TCCTGACACCCTCAGACACTA	0.701													.|||	22	0.00439297	0.0159	0.0014	5008	,	,		37820	0.0		0.0	False		,,,				2504	0.0					ENST00000412962.1																			0																																																			0							g.chr1:16957241C>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16957241C>A														0	294	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.701	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	11	1	0	0.115264	1	0.116331	3	11				
MUC4	4585	broad.mit.edu	37	3	195508382	195508382	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr3:195508382G>A	ENST00000463781.3	-	2	10528	c.10069C>T	c.(10069-10071)Cac>Tac	p.H3357Y	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H3357Y|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGGTGGCGTGACCTGTGGAT	0.602																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(10069-10071)Cac>Tac		mucin 4, cell surface associated							38.0	30.0	32.0					3																	195508382		689	1583	2272	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195508382G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.10069C>T	3.37:g.195508382G>A	ENSP00000417498:p.His3357Tyr					MUC4_ENST00000475231.1_Missense_Mutation_p.H3357Y|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	p.H3357Y	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	10528	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	140					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.10069C>T	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.904	-0.721432	0.03182	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.31510	1.51;1.49	1.03	-2.05	0.07321	.	.	.	.	.	T	0.13884	0.0336	N	0.14661	0.345	0.09310	N	1	B	0.15141	0.012	B	0.01281	0.0	T	0.29518	-1.0009	8	.	.	.	.	5.4087	0.16336	0.0:0.0:0.5637:0.4363	.	3229	E7ESK3	.	Y	3357	ENSP00000417498:H3357Y;ENSP00000420243:H3357Y	.	H	-	1	0	MUC4	196993161	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-2.033000	0.01425	-0.784000	0.04528	0.089000	0.15464	CAC		0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	11	0	0	0	1	0	3	11				
FAM86B2	653333	broad.mit.edu	37	8	12285188	12285188	+	Silent	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr8:12285188G>A	ENST00000262365.4	-	7	869	c.870C>T	c.(868-870)tgC>tgT	p.C290C	FAM86B2_ENST00000309608.5_3'UTR|FAM86B2_ENST00000393715.3_Silent_p.C62C|FAM86B2_ENST00000351291.4_Silent_p.C256C	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	290										endometrium(1)|kidney(2)	3						TGAACAGCTGGCATGTCTCTG	0.647																																						ENST00000262365.4																			0				endometrium(1)|kidney(2)	3						c.(868-870)tgC>tgT		family with sequence similarity 86, member B2																																				SO:0001819	synonymous_variant	653333							g.chr8:12285188G>A		CCDS59092.1	8p23.1	2011-07-01			ENSG00000145002	ENSG00000145002			32222	protein-coding gene	gene with protein product							Standard	NM_001137610		Approved		uc003wvt.4	P0C5J1	OTTHUMG00000165462	ENST00000262365.4:c.870C>T	8.37:g.12285188G>A						FAM86B2_ENST00000351291.4_Silent_p.C256C|FAM86B2_ENST00000393715.3_Silent_p.C62C|FAM86B2_ENST00000309608.5_3'UTR	p.C290C	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN			7	869	-			290						Silent	SNP	ENST00000262365.4	37	c.870C>T	CCDS59092.1																																																																																				0.647	FAM86B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_928336		48	284	0	0	0	1	0	48	284				
PDE1B	5153	broad.mit.edu	37	12	54963370	54963370	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr12:54963370T>G	ENST00000243052.3	+	5	887	c.451T>G	c.(451-453)Tct>Gct	p.S151A	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.S131A|PDE1B_ENST00000538346.1_Missense_Mutation_p.S110A	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	151					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CCCCACTTACTCTACTGCGGT	0.498																																						ENST00000243052.3																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						c.(451-453)Tct>Gct		phosphodiesterase 1B, calmodulin-dependent							142.0	116.0	125.0					12																	54963370		2203	4300	6503	SO:0001583	missense	0				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54963370T>G	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.451T>G	12.37:g.54963370T>G	ENSP00000243052:p.Ser151Ala					PDE1B_ENST00000550620.1_Missense_Mutation_p.S131A|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.S110A	p.S151A	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN			5	887	+			151					Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	c.451T>G	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	T	13.30	2.194561	0.38806	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.68765	-0.35;-0.35;-0.35	4.16	4.16	0.48862	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.205977	0.41938	D	0.000783	T	0.53948	0.1828	L	0.29908	0.895	0.40562	D	0.981226	B;B	0.29552	0.248;0.161	B;B	0.29524	0.103;0.066	T	0.60622	-0.7227	10	0.72032	D	0.01	.	11.8061	0.52156	0.0:0.0:0.0:1.0	.	131;151	Q01064-2;Q01064	.;PDE1B_HUMAN	A	151;110;131	ENSP00000243052:S151A;ENSP00000442559:S110A;ENSP00000448519:S131A	ENSP00000243052:S151A	S	+	1	0	PDE1B	53249637	0.997000	0.39634	0.905000	0.35620	0.511000	0.34104	3.903000	0.56318	2.105000	0.64084	0.533000	0.62120	TCT		0.498	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			10	28	0	0	0	1	0	10	28				
HERC2	8924	broad.mit.edu	37	15	28474383	28474383	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr15:28474383G>A	ENST00000261609.7	-	34	5338	c.5230C>T	c.(5230-5232)Cga>Tga	p.R1744*		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAAACATTTCGAATGTTCTGT	0.378																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(5230-5232)Cga>Tga		HECT and RLD domain containing E3 ubiquitin protein ligase 2							133.0	146.0	142.0					15																	28474383		2203	4300	6503	SO:0001587	stop_gained	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28474383G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.5230C>T	15.37:g.28474383G>A	ENSP00000261609:p.Arg1744*						p.R1744*	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	34	5338	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1744						Nonsense_Mutation	SNP	ENST00000261609.7	37	c.5230C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	46	12.185232	0.99644	.	.	ENSG00000128731	ENST00000261609	.	.	.	4.27	2.22	0.28083	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.9065	0.52715	0.0:0.0:0.5494:0.4506	.	.	.	.	X	1744	.	ENSP00000261609:R1744X	R	-	1	2	HERC2	26147978	1.000000	0.71417	0.995000	0.50966	0.858000	0.48976	6.059000	0.71133	0.974000	0.38366	0.555000	0.69702	CGA		0.378	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		23	297	0	0	0	1	0	23	297				
C5orf42	65250	broad.mit.edu	37	5	37169474	37169474	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr5:37169474T>C	ENST00000508244.1	-	33	6745	c.6652A>G	c.(6652-6654)Aca>Gca	p.T2218A	C5orf42_ENST00000274258.7_Missense_Mutation_p.T1098A|C5orf42_ENST00000425232.2_Missense_Mutation_p.T2218A			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2218						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GGACTAAATGTTTTTGCATGT	0.418																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(3292-3294)Aca>Gca		chromosome 5 open reading frame 42							67.0	71.0	70.0					5																	37169474		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37169474T>C		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.6652A>G	5.37:g.37169474T>C	ENSP00000421690:p.Thr2218Ala					C5orf42_ENST00000425232.2_Missense_Mutation_p.T2218A|C5orf42_ENST00000508244.1_Missense_Mutation_p.T2218A	p.T1098A			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		34	6879	-	all_lung(31;0.000616)		2218					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.3292A>G	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	T	8.657	0.899670	0.17686	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.20738	2.05;2.05;2.06;2.05	5.53	-5.81	0.02340	.	0.823560	0.10804	N	0.632400	T	0.07908	0.0198	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.14438	0.002;0.01	B;B	0.14578	0.006;0.011	T	0.43829	-0.9367	10	0.06365	T	0.9	.	0.0896	0.00038	0.3264:0.208:0.2226:0.243	.	2218;1098	E9PH94;Q9H799	.;CE042_HUMAN	A	2218;2218;1098;1266;1098	ENSP00000421690:T2218A;ENSP00000389014:T2218A;ENSP00000274258:T1098A;ENSP00000424223:T1266A	ENSP00000274258:T1098A	T	-	1	0	C5orf42	37205231	0.002000	0.14202	0.001000	0.08648	0.755000	0.42902	-0.696000	0.05104	-0.892000	0.03935	0.533000	0.62120	ACA		0.418	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		5	99	0	0	0	1	0	5	99				
INSRR	3645	broad.mit.edu	37	1	156815523	156815523	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:156815523A>G	ENST00000368195.3	-	10	2458	c.2062T>C	c.(2062-2064)Tgc>Cgc	p.C688R	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	688	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGCAAGGGCAGCAGTCGGAC	0.632																																						ENST00000368195.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(2062-2064)Tgc>Cgc		insulin receptor-related receptor							49.0	45.0	47.0					1																	156815523		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156815523A>G	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.2062T>C	1.37:g.156815523A>G	ENSP00000357178:p.Cys688Arg					NTRK1_ENST00000392302.2_Intron	p.C688R	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN			10	2458	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		688					O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.2062T>C	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.691757	0.48097	.	.	ENSG00000027644	ENST00000368195	T	0.81247	-1.47	4.58	4.58	0.56647	Fibronectin, type III (2);	0.000000	0.52532	D	0.000065	D	0.86843	0.6030	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	D	0.88807	0.3289	9	0.87932	D	0	.	12.2138	0.54394	1.0:0.0:0.0:0.0	.	688	P14616	INSRR_HUMAN	R	688	ENSP00000357178:C688R	ENSP00000357178:C688R	C	-	1	0	INSRR	155082147	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	7.854000	0.86942	2.049000	0.60858	0.459000	0.35465	TGC		0.632	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		20	76	0	0	0	1	0	20	76				
MAGI2	9863	broad.mit.edu	37	7	77797376	77797376	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr7:77797376C>T	ENST00000354212.4	-	15	2706	c.2453G>A	c.(2452-2454)cGc>cAc	p.R818H	MAGI2_ENST00000522391.1_Missense_Mutation_p.R818H|MAGI2_ENST00000419488.1_Missense_Mutation_p.R804H	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	818	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGGGTGAAGGCGGCCATCTCT	0.507																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(2452-2454)cGc>cAc		membrane associated guanylate kinase, WW and PDZ domain containing 2							119.0	109.0	112.0					7																	77797376		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77797376C>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2453G>A	7.37:g.77797376C>T	ENSP00000346151:p.Arg818His					MAGI2_ENST00000419488.1_Missense_Mutation_p.R804H|MAGI2_ENST00000522391.1_Missense_Mutation_p.R818H	p.R818H	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			15	2706	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	818			PDZ 4.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.2453G>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	35	5.585777	0.96578	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.49139	0.79;0.92;0.92	5.96	5.96	0.96718	PDZ/DHR/GLGF (4);	0.000000	0.37437	U	0.002100	T	0.78515	0.4295	H	0.94306	3.52	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.70487	0.91;0.969;0.91	D	0.83716	0.0190	10	0.87932	D	0	.	19.4074	0.94653	0.0:1.0:0.0:0.0	.	818;804;818	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	H	804;818;818;818	ENSP00000405766:R804H;ENSP00000346151:R818H;ENSP00000428389:R818H	ENSP00000346151:R818H	R	-	2	0	MAGI2	77635312	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.831000	0.97527	0.650000	0.86243	CGC		0.507	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		33	101	0	0	0	1	0	33	101				
ZNF446	55663	broad.mit.edu	37	19	58991357	58991357	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr19:58991357G>A	ENST00000594369.1	+	6	1154	c.773G>A	c.(772-774)gGg>gAg	p.G258E	ZNF446_ENST00000335841.4_Missense_Mutation_p.G230R|ZNF446_ENST00000596341.1_Missense_Mutation_p.G258E	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	258					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CTGCTCACGGGGACAGGCGTC	0.657																																						ENST00000596341.1																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8						c.(772-774)gGg>gAg		zinc finger protein 446							11.0	13.0	12.0					19																	58991357		2181	4273	6454	SO:0001583	missense	55663				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58991357G>A		CCDS12982.1	19q13.43	2013-01-09				ENSG00000083838		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21036	protein-coding gene	gene with protein product							Standard	NM_017908		Approved	ZKSCAN20, FLJ20626, ZSCAN52	uc002qsz.3	Q9NWS9		ENST00000594369.1:c.773G>A	19.37:g.58991357G>A	ENSP00000472802:p.Gly258Glu					ZNF446_ENST00000594369.1_Missense_Mutation_p.G258E|ZNF446_ENST00000335841.4_Missense_Mutation_p.G230R	p.G258E			Q9NWS9	ZN446_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	6	2993	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	258						Missense_Mutation	SNP	ENST00000594369.1	37	c.773G>A	CCDS12982.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147801	0.37923	.	.	ENSG00000083838	ENST00000335841;ENST00000540481;ENST00000391694	.	.	.	3.15	2.06	0.26882	.	0.866781	0.09399	N	0.807523	T	0.16128	0.0388	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.09377	0.004	T	0.30416	-0.9979	9	0.14656	T	0.56	-14.7832	5.2114	0.15318	0.1805:0.0:0.8195:0.0	.	258	Q9NWS9	ZN446_HUMAN	E	258;258;155	.	ENSP00000336565:G258E	G	+	2	0	ZNF446	63683169	0.151000	0.22747	0.002000	0.10522	0.003000	0.03518	2.339000	0.43965	0.810000	0.34279	0.655000	0.94253	GGG		0.657	ZNF446-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467052.1	NM_017908		11	5	0	0	0	1	0	11	5				
RALGDS	5900	broad.mit.edu	37	9	135985085	135985085	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr9:135985085G>A	ENST00000372050.3	-	4	533	c.512C>T	c.(511-513)aCg>aTg	p.T171M	RALGDS_ENST00000372062.3_Intron|RALGDS_ENST00000542690.1_Missense_Mutation_p.T242M|RALGDS_ENST00000372047.3_Intron|RALGDS_ENST00000393160.3_Missense_Mutation_p.T116M|RALGDS_ENST00000393157.3_Missense_Mutation_p.T170M|RALGDS_ENST00000469972.1_5'Flank	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	171	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)	p.T171M(1)		endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		AGAGGAGGCCGTGAGGGCGTC	0.527			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																Melanoma(189;762 2088 15384 21931 52515)	ENST00000393160.3				Dom	yes		9	9q34.3	5900	T	ral guanine nucleotide dissociation stimulator			L	CIITA		"""PMBL, Hodgkin Lymphona, """		1	Substitution - Missense(1)	p.T171M(1)	large_intestine(1)	endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(346-348)aCg>aTg		ral guanine nucleotide dissociation stimulator							176.0	135.0	149.0					9																	135985085		2202	4300	6502	SO:0001583	missense	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:135985085G>A	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.512C>T	9.37:g.135985085G>A	ENSP00000361120:p.Thr171Met					RALGDS_ENST00000372050.3_Missense_Mutation_p.T171M|RALGDS_ENST00000542690.1_Missense_Mutation_p.T242M|RALGDS_ENST00000372047.3_Intron|RALGDS_ENST00000372062.3_Intron|RALGDS_ENST00000393157.3_Missense_Mutation_p.T170M	p.T116M	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	4	700	-			171			N-terminal Ras-GEF.		B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP	ENST00000372050.3	37	c.347C>T	CCDS6959.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.314207	0.40996	.	.	ENSG00000160271	ENST00000372050;ENST00000393160;ENST00000393157;ENST00000542690	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	4.6	0.716	0.18191	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	1.051230	0.07437	N	0.896693	T	0.24275	0.0588	N	0.14661	0.345	0.29098	N	0.88163	P;B;P;B	0.38395	0.576;0.256;0.629;0.256	B;B;B;B	0.24701	0.032;0.024;0.055;0.036	T	0.17379	-1.0371	10	0.48119	T	0.1	.	6.205	0.20598	0.4219:0.0:0.5781:0.0	.	242;116;170;171	F5H6M6;Q6KH11;E7ERZ0;Q12967	.;.;.;GNDS_HUMAN	M	171;116;170;242	ENSP00000361120:T171M;ENSP00000376867:T116M;ENSP00000376864:T170M;ENSP00000437518:T242M	ENSP00000361120:T171M	T	-	2	0	RALGDS	134974906	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.462000	0.35266	0.260000	0.21731	0.563000	0.77884	ACG		0.527	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266		6	79	0	0	0	1	0	6	79				
FBXW7	55294	broad.mit.edu	37	4	153245518	153245518	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr4:153245518G>A	ENST00000281708.4	-	11	2902	c.1673C>T	c.(1672-1674)tCt>tTt	p.S558F	FBXW7_ENST00000296555.5_Missense_Mutation_p.S440F|FBXW7_ENST00000263981.5_Missense_Mutation_p.S478F|FBXW7_ENST00000603841.1_Missense_Mutation_p.S558F|FBXW7_ENST00000393956.3_Missense_Mutation_p.S382F|FBXW7_ENST00000603548.1_Missense_Mutation_p.S558F	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	558					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGTATCAAGAGATCCACTCAC	0.403			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1672-1674)tCt>tTt		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							115.0	87.0	96.0					4																	153245518		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153245518G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1673C>T	4.37:g.153245518G>A	ENSP00000281708:p.Ser558Phe					FBXW7_ENST00000603548.1_Missense_Mutation_p.S558F|FBXW7_ENST00000393956.3_Missense_Mutation_p.S382F|FBXW7_ENST00000296555.5_Missense_Mutation_p.S440F|FBXW7_ENST00000263981.5_Missense_Mutation_p.S478F|FBXW7_ENST00000603841.1_Missense_Mutation_p.S558F	p.S558F	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			11	2902	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	558					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1673C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907349	0.92107	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	5.61	5.61	0.85477	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90662	0.7071	H	0.94658	3.565	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.92754	0.6218	10	0.87932	D	0	-11.34	19.6375	0.95740	0.0:0.0:1.0:0.0	.	382;558;440;478	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	F	558;440;478;382	ENSP00000281708:S558F;ENSP00000296555:S440F;ENSP00000263981:S478F;ENSP00000377528:S382F	ENSP00000263981:S478F	S	-	2	0	FBXW7	153464968	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.640000	0.89533	0.655000	0.94253	TCT		0.403	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			7	11	0	0	0	1	0	7	11				
CASZ1	54897	broad.mit.edu	37	1	10699155	10699156	+	In_Frame_Ins	INS	-	-	TCG			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:10699155_10699156insTCG	ENST00000377022.3	-	21	5440_5441	c.5123_5124insCGA	c.(5122-5124)gag>gaCGAg	p.1707_1708insD	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1707	Asp-rich.|Glu-rich.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		cgtcgtcgtcctcgtcgtcgtc	0.743																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(5122-5124)gga>gCGAga		castor zinc finger 1																																				SO:0001652	inframe_insertion	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10699155_10699156insTCG	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.5121_5123dupCGA	1.37:g.10699162_10699164dupTCG	ENSP00000366221:p.Asp1711_Asp1712dup						p.1708_1708G>AR	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	21	5440_5441	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	1708			Asp-rich.|Glu-rich.		Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	In_Frame_Ins	INS	ENST00000377022.3	37	c.5123_5124insCGA	CCDS41246.1																																																																																				0.743	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		5	9						5	9	---	---	---	---
CROCCP2	84809	broad.mit.edu	37	1	16958545	16958546	+	lincRNA	INS	-	-	C	rs113787707|rs386366308	byFrequency	TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:16958545_16958546insC	ENST00000412962.1	-	0	74							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											ggcctcagtttcccatccgtgt	0.55													|||unknown(NO_COVERAGE)	1910	0.38139	0.4319	0.3487	5008	,	,		69201	0.4583		0.3151	False		,,,				2504	0.3252					ENST00000412962.1																			0																																																			0							g.chr1:16958545_16958546insC	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16958548_16958548dupC														0	74	-								Q8NF65|Q96FR5|Q9BRE8	RNA	INS	ENST00000412962.1	37																																																																																						0.550	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		8	10						8	10	---	---	---	---
BAI2	576	broad.mit.edu	37	1	32221719	32221719	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:32221719delC	ENST00000373658.3	-	4	1060	c.719delG	c.(718-720)ggcfs	p.G240fs	BAI2_ENST00000398547.1_Frame_Shift_Del_p.G228fs|BAI2_ENST00000527361.1_Frame_Shift_Del_p.G240fs|BAI2_ENST00000398556.3_Frame_Shift_Del_p.G243fs|BAI2_ENST00000398542.1_Frame_Shift_Del_p.G228fs|BAI2_ENST00000398538.1_Frame_Shift_Del_p.G228fs|MIR4254_ENST00000581063.1_RNA|BAI2_ENST00000373655.2_Frame_Shift_Del_p.G240fs|BAI2_ENST00000257070.4_Frame_Shift_Del_p.G240fs	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	240					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AGCAGGAGGGCCTGGAGATGT	0.701																																						ENST00000373658.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(718-720)gcfs		brain-specific angiogenesis inhibitor 2							37.0	46.0	43.0					1																	32221719		2203	4299	6502	SO:0001589	frameshift_variant	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32221719delC	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.719delG	1.37:g.32221719delC	ENSP00000362762:p.Gly240fs					BAI2_ENST00000527361.1_Frame_Shift_Del_p.G240fs|BAI2_ENST00000398538.1_Frame_Shift_Del_p.G228fs|BAI2_ENST00000398542.1_Frame_Shift_Del_p.G228fs|BAI2_ENST00000398547.1_Frame_Shift_Del_p.G228fs|BAI2_ENST00000373655.2_Frame_Shift_Del_p.G240fs|BAI2_ENST00000257070.4_Frame_Shift_Del_p.G240fs|BAI2_ENST00000398556.3_Frame_Shift_Del_p.G243fs	p.G240fs	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	4	1060	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	240					B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Frame_Shift_Del	DEL	ENST00000373658.3	37	c.719delG	CCDS346.2																																																																																				0.701	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		26	79						26	79	---	---	---	---
LPAR3	23566	broad.mit.edu	37	1	85331664	85331665	+	Frame_Shift_Ins	INS	-	-	A	rs76299065		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:85331664_85331665insA	ENST00000440886.1	-	1	177_178	c.139_140insT	c.(139-141)tctfs	p.S47fs	LPAR3_ENST00000370611.3_Frame_Shift_Ins_p.S47fs|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	47					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CAGAGAATTAGAAAAAAAAATA	0.401																																						ENST00000440886.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						c.(139-141)taafs		lysophosphatidic acid receptor 3																																				SO:0001589	frameshift_variant	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85331664_85331665insA	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.140dupT	1.37:g.85331673_85331673dupA	ENSP00000395389:p.Ser47fs					LPAR3_ENST00000370611.3_Frame_Shift_Ins_p.*47fs|LPAR3_ENST00000491034.1_5'UTR	p.*47fs			Q9UBY5	LPAR3_HUMAN			1	177_178	-			47					A0AVA3	Frame_Shift_Ins	INS	ENST00000440886.1	37	c.139_140insT	CCDS700.1																																																																																				0.401	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		7	234						7	234	---	---	---	---
CTD-2090I13.1	0	broad.mit.edu	37	1	227618721	227618722	+	lincRNA	INS	-	-	A	rs71180749	byFrequency	TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:227618721_227618722insA	ENST00000445817.1	+	0	1956_1957																											GTTTATATACCAAAAAAAAAAA	0.436													|||unknown(HR)	1428	0.285144	0.3336	0.2435	5008	,	,		16917	0.37		0.2584	False		,,,				2504	0.1892					ENST00000445817.1																			0																																																			0							g.chr1:227618721_227618722insA																													1.37:g.227618732_227618732dupA														0	1956_1957	+									RNA	INS	ENST00000445817.1	37																																																																																						0.436	CTD-2090I13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000091688.1			2	4						2	4	---	---	---	---
RP11-521D12.2	0	broad.mit.edu	37	2	9838150	9838151	+	lincRNA	DEL	TG	TG	-	rs368545238		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr2:9838150_9838151delTG	ENST00000483023.1	+	0	1539																											tctgtgcatatgtgtgtgtgtg	0.47																																						ENST00000483023.1																			0																																																			0							g.chr2:9838150_9838151delTG																													2.37:g.9838160_9838161delTG														0	1539	+									RNA	DEL	ENST00000483023.1	37																																																																																						0.470	RP11-521D12.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353415.1			2	4						2	4	---	---	---	---
FARP2	9855	broad.mit.edu	37	2	242371190	242371193	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr2:242371190_242371193delGTAA	ENST00000264042.3	+	9	1037		c.e9+1		FARP2_ENST00000373287.4_Splice_Site|FARP2_ENST00000545004.1_Splice_Site	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2						actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		AGAGGTTCATGTAAGTATTATTTT	0.333																																						ENST00000264042.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.e9+1		FERM, RhoGEF and pleckstrin domain protein 2																																				SO:0001630	splice_region_variant	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242371190_242371193delGTAA	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.867+1GTAA>-	2.37:g.242371190_242371193delGTAA						FARP2_ENST00000373287.4_Splice_Site|FARP2_ENST00000545004.1_Splice_Site		NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	9	1037	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)						B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Splice_Site	DEL	ENST00000264042.3	37		CCDS33424.1																																																																																				0.333	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1		Intron	7	44						7	44	---	---	---	---
XPC	7508	broad.mit.edu	37	3	14219966	14219968	+	Splice_Site	DEL	CCT	CCT	-	rs72561774	byFrequency	TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr3:14219966_14219968delCCT	ENST00000285021.7	-	1	315_317	c.101_103delAGG	c.(100-105)gaggat>gat	p.E34del	XPC_ENST00000449060.2_Splice_Site_p.E34del|LSM3_ENST00000306024.3_5'UTR	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	34	Glu-rich (acidic).|Poly-Glu.				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)	p.E34delE(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCGCTCTCACCCTCCTCCTCCTC	0.734			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group C"""			E		"""skin basal cell, skin squamous cell, melanoma"""			1	Deletion - In frame(1)	p.E34delE(1)	upper_aerodigestive_tract(1)	NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.e1+1	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C			,	315,1,3348		29,0,257,0,1,1545					,	5.2	1.0			23	706,1,7113		33,0,640,0,1,3236	no	codingComplex-near-splice,codingComplex-near-splice	XPC	NM_004628.4,NM_001145769.1	,	62,0,897,0,2,4781	A1A1,A1A2,A1R,A2A2,A2R,RR		9.0409,8.6245,8.908	,	,		1021,2,10461				SO:0001630	splice_region_variant	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14219966_14219968delCCT		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.103+1AGG>-	3.37:g.14219975_14219977delCCT						LSM3_ENST00000306024.3_5'UTR|XPC_ENST00000449060.2_Splice_Site_p.ED34_splice	p.ED34_splice	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			1	315_317	-			34			Glu-rich (acidic).|Poly-Glu.		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Splice_Site	DEL	ENST00000285021.7	37	c.103_splice	CCDS46763.1																																																																																				0.734	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628	In_Frame_Del	9	113						9	113	---	---	---	---
LOC93622	93622	broad.mit.edu	37	4	6675747	6675748	+	lincRNA	INS	-	-	CTG	rs146409342	byFrequency	TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr4:6675747_6675748insCTG	ENST00000307533.6	+	0	570_571				RP11-539L10.3_ENST00000515205.1_lincRNA	NR_015433.1																						GGTAAAGGACCGCAGGTGTCGT	0.668														82	0.0163738	0.0575	0.0058	5008	,	,		11416	0.0		0.002	False		,,,				2504	0.0					ENST00000307533.6																			0																																																			0							g.chr4:6675747_6675748insCTG																													4.37:g.6675747_6675748insCTG								NR_015433.1						0	570_571	+									RNA	INS	ENST00000307533.6	37																																																																																						0.668	AC093323.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000246832.2			3	2						3	2	---	---	---	---
LOC101929210	101929210	broad.mit.edu	37	4	95117089	95117089	+	lincRNA	DEL	A	A	-	rs368931114	byFrequency	TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr4:95117089delA	ENST00000501965.2	-	0	27																											CAGTTTTTTTAATtcctcctc	0.388																																						ENST00000501965.2																			0																																																			0							g.chr4:95117089delA																													4.37:g.95117089delA														0	27	-									RNA	DEL	ENST00000501965.2	37																																																																																						0.388	RP11-363G15.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000364267.2			2	4						2	4	---	---	---	---
FABP5P3	220832	broad.mit.edu	37	7	152140120	152140121	+	RNA	INS	-	-	T	rs369275156|rs112177366		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr7:152140120_152140121insT	ENST00000477993.1	+	0	875_876					NR_002935.1		A8MUU1	FB5L3_HUMAN	fatty acid binding protein 5 pseudogene 3								lipid binding (GO:0008289)|transporter activity (GO:0005215)										CTGTTTCTTTCTTTTTTTTTTC	0.327																																						ENST00000477993.1																			0																																																			0							g.chr7:152140120_152140121insT			7q36.1	2010-10-12	2010-10-12	2010-10-12	ENSG00000241735	ENSG00000241735			22573	pseudogene	pseudogene			"""fatty acid binding protein 5-like 3"", ""fatty acid binding protein 5-like 3 (pseudogene)"""	FABP5L3			Standard	NR_002935		Approved	TCAG_1781704	uc003wlb.3	A8MUU1	OTTHUMG00000157257		7.37:g.152140130_152140130dupT								NR_002935.1						0	875_876	+									RNA	INS	ENST00000477993.1	37																																																																																						0.327	FABP5P3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000348208.1	NR_002935		3	2						3	2	---	---	---	---
XKR5	389610	broad.mit.edu	37	8	6689629	6689629	+	RNA	DEL	T	T	-			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr8:6689629delT	ENST00000518724.1	-	0	393							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		ATAAACTCACTGACACATCTC	0.408																																						ENST00000518724.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3								XK, Kell blood group complex subunit-related family, member 5																																						389610					integral to membrane		g.chr8:6689629delT	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6689629delT										Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)	0	393	-								Q5GH74	RNA	DEL	ENST00000518724.1	37																																																																																						0.408	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	NM_207411		2	4						2	4	---	---	---	---
LINC01410	103352539	broad.mit.edu	37	9	66458842	66458843	+	lincRNA	INS	-	-	C			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr9:66458842_66458843insC	ENST00000424345.1	+	0	67				RNA5SP283_ENST00000365604.1_RNA																							tgaggatttttttttaccttta	0.317																																						ENST00000424345.1																			0																																																			0							g.chr9:66458842_66458843insC																													9.37:g.66458842_66458843insC														0	67	+									RNA	INS	ENST00000424345.1	37																																																																																						0.317	RP11-262H14.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000128851.1			4	4						4	4	---	---	---	---
PGM5P2	595135	broad.mit.edu	37	9	69137850	69137851	+	RNA	DEL	TG	TG	-			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr9:69137850_69137851delTG	ENST00000591037.1	-	0	430					NR_002836.2				phosphoglucomutase 5 pseudogene 2																		AGAGTGTGCATGTGTGTGTGTG	0.515																																						ENST00000591037.1																			0																																																			0							g.chr9:69137850_69137851delTG	BC007887, BC025351		9q12	2014-01-23			ENSG00000227558	ENSG00000277778			18965	pseudogene	pseudogene						12421752, 15233989	Standard	NR_002836		Approved		uc004aff.4		OTTHUMG00000013322		9.37:g.69137860_69137861delTG								NR_002836.2						0	430	-									RNA	DEL	ENST00000591037.1	37																																																																																						0.515	PGM5P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000460890.1	NR_002836		3	3						3	3	---	---	---	---
KLRAP1	10748	broad.mit.edu	37	12	10748571	10748575	+	RNA	DEL	AATTA	AATTA	-	rs144377995	byFrequency	TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr12:10748571_10748575delAATTA	ENST00000510134.2	-	0	315									killer cell lectin-like receptor subfamily A pseudogene 1											breast(1)|large_intestine(1)|lung(1)	3						TACTCATAATAATTAAATATTGAAA	0.239														82	0.0163738	0.0613	0.0014	5008	,	,		15076	0.0		0.0	False		,,,				2504	0.0					ENST00000510134.2																			0				breast(1)|large_intestine(1)|lung(1)	3												172,3558		29,114,1722						-3.4	0.0		dbSNP_134	6	5,7453		1,3,3725	no	intergenic				30,117,5447	A1A1,A1R,RR		0.067,4.6113,1.5821				177,11011						0							g.chr12:10748571_10748575delAATTA	AF047445		12p13.2	2012-01-16	2010-10-28	2010-10-28	ENSG00000256667	ENSG00000256667		"""Killer cell lectin-like receptors"""	6372	pseudogene	pseudogene		604274	"""killer cell lectin-like receptor subfamily A, member 1"""	KLRA1		9645365	Standard	NR_028045		Approved	Ly49, LY49L	uc009zho.3		OTTHUMG00000160127		12.37:g.10748571_10748575delAATTA														0	315	-									RNA	DEL	ENST00000510134.2	37																																																																																						0.239	KLRAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000359305.2	NR_028045		6	6						6	6	---	---	---	---
LOC101927531	101927531	broad.mit.edu	37	12	126845466	126845466	+	lincRNA	DEL	C	C	-			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr12:126845466delC	ENST00000536639.1	+	0	1165				RP4-809F18.2_ENST00000539588.1_lincRNA																							gtcttcggctcctgggctcag	0.502																																						ENST00000536639.1																			0																																																			0							g.chr12:126845466delC																													12.37:g.126845466delC														0	1165	+									RNA	DEL	ENST00000536639.1	37																																																																																						0.502	RP4-809F18.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000399842.1			2	4						2	4	---	---	---	---
RP11-897M7.1	0	broad.mit.edu	37	12	131962110	131962111	+	lincRNA	INS	-	-	ATA	rs76885318|rs374875204		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr12:131962110_131962111insATA	ENST00000535133.1	-	0	195																											tggtaatggtggtgatgatggt	0.396																																						ENST00000535133.1																			0																																																			0							g.chr12:131962110_131962111insATA																													12.37:g.131962110_131962111insATA														0	195	-									RNA	INS	ENST00000535133.1	37																																																																																						0.396	RP11-897M7.1-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000399228.1			2	4						2	4	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG	rs375560921|rs201773491	byFrequency	TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		AGGAAGGTTCTAAAAAAAATTT	0.252														9	0.00179712	0.0008	0.0014	5008	,	,		20326	0.004		0.003	False		,,,				2504	0.0					ENST00000429698.1																			0																																																			0							g.chr13:25527490_25527491insAAAAAG			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25527490_25527491insAAAAAG														0	282	-								B3KST4|B4DMH9	RNA	INS	ENST00000429698.1	37																																																																																						0.252	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			4	9						4	9	---	---	---	---
HERC2P3	283755	broad.mit.edu	37	15	20601516	20601517	+	RNA	DEL	TG	TG	-	rs113700902|rs141129438	byFrequency	TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr15:20601516_20601517delTG	ENST00000428453.1	-	0	4041							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						AAGTGCCACATGTGTTTGCAAA	0.411														1185	0.236621	0.3094	0.2493	5008	,	,		56423	0.2569		0.1769	False		,,,				2504	0.1697					ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35																																														0							g.chr15:20601516_20601517delTG	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20601518_20601519delTG														0	4041	-									RNA	DEL	ENST00000428453.1	37																																																																																						0.411	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		7	8						7	8	---	---	---	---
SUZ12P1	440423	broad.mit.edu	37	17	29061756	29061759	+	RNA	DEL	ACTA	ACTA	-	rs369042239		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr17:29061756_29061759delACTA	ENST00000582557.1	+	0	676_679																											TACTGTGCATACTAACTTTCTTGA	0.304																																						ENST00000582557.1																			0																																																			0							g.chr17:29061756_29061759delACTA																													17.37:g.29061756_29061759delACTA														0	676_679	+									RNA	DEL	ENST00000582557.1	37																																																																																						0.304	SUZ12P-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444260.1			2	4						2	4	---	---	---	---
LOC100288866	100288866	broad.mit.edu	37	17	47645178	47645179	+	RNA	DEL	AG	AG	-			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr17:47645178_47645179delAG	ENST00000514506.1	-	0	246				RP5-1029K10.4_ENST00000503624.1_RNA	NR_103773.1																						CGTCTGATGTAGAATCAGAAGA	0.584											OREG0024543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000514506.1																			0																																																			0							g.chr17:47645178_47645179delAG																													17.37:g.47645178_47645179delAG			OREG0024543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	948	RP5-1029K10.4_ENST00000503624.1_RNA		NR_103773.1						0	246	-									RNA	DEL	ENST00000514506.1	37																																																																																						0.584	RP5-1029K10.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000365157.1			2	4						2	4	---	---	---	---
AMZ2P1	201283	broad.mit.edu	37	17	62968575	62968575	+	RNA	DEL	T	T	-	rs376847634	byFrequency	TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr17:62968575delT	ENST00000430983.1	-	0	1593					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		TTGGTTGGAATTTTTTTCCCT	0.333													|||unknown(NO_COVERAGE)	3	0.000599042	0.0	0.0	5008	,	,		17809	0.0		0.0	False		,,,				2504	0.0031					ENST00000430983.1																			0																																																			0							g.chr17:62968575delT	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62968575delT								NR_026903.1						0	1593	-									RNA	DEL	ENST00000430983.1	37																																																																																						0.333	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		8	55						8	55	---	---	---	---
BPTF	2186	broad.mit.edu	37	17	65822267	65822269	+	In_Frame_Del	DEL	GAG	GAG	-	rs369989246		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr17:65822267_65822269delGAG	ENST00000321892.4	+	1	488_490	c.427_429delGAG	c.(427-429)gagdel	p.E148del	BPTF_ENST00000424123.3_In_Frame_Del_p.E9del|BPTF_ENST00000306378.6_In_Frame_Del_p.E148del|BPTF_ENST00000335221.5_In_Frame_Del_p.E148del			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	148	Glu-rich.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.E143*(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			catggtctccgaggaggaggagg	0.635																																						ENST00000321892.4																			2	Substitution - Nonsense(2)	p.E143*(2)	lung(2)	NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(427-429)del		bromodomain PHD finger transcription factor			,	0,111,0,4153		0,0,0,0,1,0,109,0,0,2022					,	-1.8	0.4			44	2,249,3,8000		0,0,0,2,5,0,239,0,3,3878	no	codingComplex,codingComplex	BPTF	NM_182641.3,NM_004459.6	,	0,0,0,2,6,0,348,0,3,5900	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		3.0773,2.6032,2.9158	,	,		2,360,3,12153				SO:0001651	inframe_deletion	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65822267_65822269delGAG	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.427_429delGAG	17.37:g.65822276_65822278delGAG	ENSP00000315454:p.Glu148del					BPTF_ENST00000424123.3_In_Frame_Del_p.E9del|BPTF_ENST00000335221.5_In_Frame_Del_p.E148del|BPTF_ENST00000306378.6_In_Frame_Del_p.E148del	p.E148del			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		1	488_490	+	all_cancers(12;6e-11)		148			Glu-rich.		Q6NX67|Q7Z7D6|Q9UIG2	In_Frame_Del	DEL	ENST00000321892.4	37	c.427_429delGAG																																																																																					0.635	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		7	165						7	165	---	---	---	---
CARD14	79092	broad.mit.edu	37	17	78172300	78172301	+	Frame_Shift_Ins	INS	-	-	G	rs372197132|rs200610907		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr17:78172300_78172301insG	ENST00000573882.1	+	15	2297_2298	c.1761_1762insG	c.(1762-1764)gggfs	p.G588fs	CARD14_ENST00000392434.2_Frame_Shift_Ins_p.G351fs|CARD14_ENST00000344227.2_Frame_Shift_Ins_p.G588fs|RP11-334C17.5_ENST00000570309.1_RNA|CARD14_ENST00000570421.1_Frame_Shift_Ins_p.G588fs|CARD14_ENST00000573754.1_3'UTR			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	588	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCGTCATCGGCGGGAACCTCAC	0.678																																						ENST00000573882.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23						c.(1759-1764)ggggaafs		caspase recruitment domain family, member 14																																				SO:0001589	frameshift_variant	79092				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	g.chr17:78172300_78172301insG	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1764dupG	17.37:g.78172303_78172303dupG	ENSP00000458715:p.Gly588fs					CARD14_ENST00000570421.1_Frame_Shift_Ins_p.E588fs|CARD14_ENST00000344227.2_Frame_Shift_Ins_p.E588fs|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000392434.2_Frame_Shift_Ins_p.E351fs	p.E588fs			Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		15	2297_2298	+	all_neural(118;0.0952)		588			PDZ.		B8QQJ3|Q9BVB5	Frame_Shift_Ins	INS	ENST00000573882.1	37	c.1761_1762insG	CCDS11768.1																																																																																				0.678	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			7	361						7	361	---	---	---	---
LINC01598	105379478	broad.mit.edu	37	20	29595845	29595845	+	RNA	DEL	A	A	-	rs142644440		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr20:29595845delA	ENST00000432067.1	-	0	74																											acacagtgagaccttgtccct	0.473																																						ENST00000432067.1																			0																																																			0							g.chr20:29595845delA																													20.37:g.29595845delA														0	74	-									RNA	DEL	ENST00000432067.1	37																																																																																						0.473	RP4-610C12.1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078489.3			2	4						2	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11033264	11033265	+	RNA	INS	-	-	A	rs142726286|rs55640400		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr21:11033264_11033265insA	ENST00000470054.1	-	0	1476							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TAAAAATTACTAAAAAATCTAT	0.257																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11033264_11033265insA	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11033270_11033270dupA												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	1476	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.257	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11037486	11037487	+	RNA	DEL	AG	AG	-	rs58622504	byFrequency	TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr21:11037486_11037487delAG	ENST00000470054.1	-	0	1476							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAGTCTTTTCAGAGTCAGAATG	0.257														2466	0.492412	0.4985	0.4957	5008	,	,		94902	0.4921		0.4771	False		,,,				2504	0.498					ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11037486_11037487delAG	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11037488_11037489delAG												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	1476	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.257	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	3						4	3	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11059172	11059175	+	RNA	DEL	CTAT	CTAT	-	rs56885467|rs200729113		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr21:11059172_11059175delCTAT	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGGGAAATGACTATCTAACATAAA	0.373																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11059172_11059175delCTAT	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11059172_11059175delCTAT												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.373	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	4						3	4	---	---	---	---
ZNF295-AS1	150142	broad.mit.edu	37	21	43443260	43443260	+	lincRNA	DEL	A	A	-	rs200856198		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr21:43443260delA	ENST00000596595.1	+	0	1069							Q8N0V1	ZNAS1_HUMAN	ZNF295 antisense RNA 1																		tgagaccctgaaaaaaaaaaa	0.552																																						ENST00000596595.1																			0																																																			0							g.chr21:43443260delA			21q22.3	2012-10-12	2012-08-15	2011-08-11	ENSG00000237232	ENSG00000237232		"""Long non-coding RNAs"""	23130	non-coding RNA	RNA, long non-coding			"""chromosome 21 open reading frame 121"", ""non-protein coding RNA 318"", ""ZNF295 antisense RNA 1 (non-protein coding)"""	C21orf121, NCRNA00318			Standard	NR_119384		Approved	PRED87	uc011aeu.1	Q8N0V1	OTTHUMG00000086787		21.37:g.43443260delA														0	1069	+									RNA	DEL	ENST00000596595.1	37																																																																																						0.552	ZNF295-AS1-201	KNOWN	basic	lincRNA	lincRNA		NR_027273		2	4						2	4	---	---	---	---
