#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
KRTAP4-11	653240	broad.mit.edu	37	17	39274491	39274491	+	Missense_Mutation	SNP	C	C	T	rs113376601	byFrequency	TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr17:39274491C>T	ENST00000391413.2	-	1	115	c.77G>A	c.(76-78)cGc>cAc	p.R26H		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	26	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)			GCAGCTGGGGCGGCAGCAGGT	0.627													c|||	514	0.102636	0.1815	0.121	5008	,	,		17390	0.1508		0.0169	False		,,,				2504	0.0215					ENST00000391413.2																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(76-78)cGc>cAc		keratin associated protein 4-11		T	HIS/ARG	207,1177		15,177,500	20.0	26.0	24.0		77	-4.5	0.0	17	dbSNP_132	24	48,3134		1,46,1544	yes	missense	KRTAP4-11	NM_033059.3	29	16,223,2044	TT,TC,CC		1.5085,14.9566,5.5848	benign	26/196	39274491	255,4311	692	1591	2283	SO:0001583	missense	653240					keratin filament		g.chr17:39274491C>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.77G>A	17.37:g.39274491C>T	ENSP00000375232:p.Arg26His						p.R26H	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	115	-		Breast(137;0.000496)	26			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.77G>A	CCDS45675.1	234	0.10714285714285714	86	0.17479674796747968	36	0.09944751381215469	98	0.17132867132867133	14	0.018469656992084433	.	3.849	-0.032146	0.07543	0.149566	0.015085	ENSG00000212721	ENST00000391413	T	0.00622	6.16	3.98	-4.52	0.03472	.	.	.	.	.	T	0.00012	0.0000	M	0.66560	2.04	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.16571	-1.0398	8	0.45353	T	0.12	.	11.4199	0.49976	0.0:0.4348:0.0:0.5652	.	26	Q9BYQ6	KR411_HUMAN	H	26	ENSP00000375232:R26H	ENSP00000375232:R26H	R	-	2	0	KRTAP4-11	36528017	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-6.694000	0.00057	-1.751000	0.01326	-2.283000	0.00269	CGC		0.627	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			7	80	0	0	0	1	0	7	80				
ANKRD36C	400986	broad.mit.edu	37	2	96628278	96628278	+	Missense_Mutation	SNP	G	G	C	rs182453827		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr2:96628278G>C	ENST00000456556.1	-	7	901	c.817C>G	c.(817-819)Cca>Gca	p.P273A				Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	273							ion channel inhibitor activity (GO:0008200)			breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCAAGGCTGGTTGTTTCTGA	0.313																																						ENST00000456556.1																			0				breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(817-819)Cca>Gca		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96628278G>C	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.817C>G	2.37:g.96628278G>C	ENSP00000403302:p.Pro273Ala						p.P273A							7	901	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.817C>G		.	.	.	.	.	.	.	.	.	.	N	2.583	-0.296876	0.05532	.	.	ENSG00000174501	ENST00000456556	T	0.76578	-1.03	1.25	0.315	0.15852	.	.	.	.	.	T	0.64864	0.2637	L	0.39898	1.24	0.09310	N	1	.	.	.	.	.	.	T	0.50825	-0.8782	7	0.19590	T	0.45	.	3.5052	0.07688	0.2753:0.0:0.7247:0.0	.	.	.	.	A	273	ENSP00000403302:P273A	ENSP00000403302:P273A	P	-	1	0	AC073995.2	95992005	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	-0.369000	0.07533	0.100000	0.17581	0.291000	0.19559	CCA		0.313	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		3	54	0	0	0	1	0	3	54				
VPS13A	23230	broad.mit.edu	37	9	79853107	79853107	+	Splice_Site	SNP	A	A	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr9:79853107A>C	ENST00000360280.3	+	18	2045	c.1785A>C	c.(1783-1785)gcA>gcC	p.A595A	VPS13A_ENST00000376636.3_Splice_Site_p.A595A|VPS13A_ENST00000376634.4_Splice_Site_p.A595A|VPS13A_ENST00000357409.5_Splice_Site_p.A595A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	595					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATATGATGCAGTAAGCATTT	0.274																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.e18+1		vacuolar protein sorting 13 homolog A (S. cerevisiae)							50.0	54.0	53.0					9																	79853107		2201	4296	6497	SO:0001630	splice_region_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79853107A>C	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.1785+1A>C	9.37:g.79853107A>C						VPS13A_ENST00000376636.3_Splice_Site_p.A595_splice|VPS13A_ENST00000357409.5_Splice_Site_p.A595_splice|VPS13A_ENST00000376634.4_Splice_Site_p.A595_splice	p.A595_splice	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			18	2045	+			595					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Splice_Site	SNP	ENST00000360280.3	37	c.1785_splice	CCDS6655.1																																																																																				0.274	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	Silent	6	224	0	0	0	1	0	6	224				
ABCC11	85320	broad.mit.edu	37	16	48204026	48204026	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr16:48204026C>T	ENST00000394747.1	-	27	4230	c.3881G>A	c.(3880-3882)cGc>cAc	p.R1294H	ABCC11_ENST00000394748.1_Missense_Mutation_p.R1294H|ABCC11_ENST00000565329.1_5'UTR|RP11-3M1.1_ENST00000563906.1_RNA|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1294H|ABCC11_ENST00000353782.5_Intron	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1294	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.R1294H(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CTTGGAGTTGCGAAGCACAGC	0.577																																						ENST00000394747.1																			1	Substitution - Missense(1)	p.R1294H(1)	endometrium(1)	breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(3880-3882)cGc>cAc		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							105.0	111.0	109.0					16																	48204026		2201	4300	6501	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48204026C>T	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3881G>A	16.37:g.48204026C>T	ENSP00000378230:p.Arg1294His					ABCC11_ENST00000356608.2_Missense_Mutation_p.R1294H|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1294H|ABCC11_ENST00000353782.5_Intron|ABCC11_ENST00000565329.1_5'UTR	p.R1294H	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			27	4230	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	1294			ABC transporter 2.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.3881G>A	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.512645	0.64522	.	.	ENSG00000121270	ENST00000356608;ENST00000394748;ENST00000394747	D;D;D	0.94092	-3.35;-3.35;-3.35	4.88	4.88	0.63580	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.137032	0.50627	D	0.000114	D	0.93854	0.8034	L	0.60455	1.87	0.80722	D	1	D	0.59357	0.985	P	0.53146	0.719	D	0.94048	0.7315	10	0.59425	D	0.04	-3.3046	13.5802	0.61898	0.0:1.0:0.0:0.0	.	1294	Q96J66	ABCCB_HUMAN	H	1294	ENSP00000349017:R1294H;ENSP00000378231:R1294H;ENSP00000378230:R1294H	ENSP00000349017:R1294H	R	-	2	0	ABCC11	46761527	0.991000	0.36638	0.320000	0.25306	0.153000	0.21895	3.505000	0.53356	2.265000	0.75225	0.650000	0.86243	CGC		0.577	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		6	313	0	0	0	1	0	6	313				
IGSF10	285313	broad.mit.edu	37	3	151165118	151165118	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr3:151165118C>T	ENST00000282466.3	-	4	2650	c.2651G>A	c.(2650-2652)gGc>gAc	p.G884D		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	884					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTGGTTGTGCCTTGTATTTG	0.423																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(2650-2652)gGc>gAc		immunoglobulin superfamily, member 10							357.0	357.0	357.0					3																	151165118		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151165118C>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2651G>A	3.37:g.151165118C>T	ENSP00000282466:p.Gly884Asp						p.G884D	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	2650	-			884					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.2651G>A	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	0.339	-0.951620	0.02285	.	.	ENSG00000152580	ENST00000282466	T	0.67171	-0.25	5.31	-5.34	0.02705	.	1.452150	0.04831	N	0.438696	T	0.39835	0.1093	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41124	-0.9526	10	0.07644	T	0.81	.	10.1459	0.42762	0.0:0.2568:0.1042:0.639	.	884	Q6WRI0	IGS10_HUMAN	D	884	ENSP00000282466:G884D	ENSP00000282466:G884D	G	-	2	0	IGSF10	152647808	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.747000	0.04823	-0.955000	0.03636	-0.218000	0.12543	GGC		0.423	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		6	653	0	0	0	1	0	6	653				
ANKRD34B	340120	broad.mit.edu	37	5	79855581	79855581	+	Silent	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr5:79855581C>T	ENST00000338682.3	-	5	930	c.258G>A	c.(256-258)acG>acA	p.T86T		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	86						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		GCATCAGAGCCGTTTTCCCAG	0.463																																						ENST00000338682.3																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28						c.(256-258)acG>acA		ankyrin repeat domain 34B							162.0	157.0	159.0					5																	79855581		2203	4300	6503	SO:0001819	synonymous_variant	340120					cytoplasm|nucleus		g.chr5:79855581C>T		CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"""Ankyrin repeat domain containing"""	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.258G>A	5.37:g.79855581C>T							p.T86T	NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)	5	930	-		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	86					B2RPH1|Q68D79	Silent	SNP	ENST00000338682.3	37	c.258G>A	CCDS34194.1																																																																																				0.463	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	NM_001004441		4	322	0	0	0	1	0	4	322				
FUBP1	8880	broad.mit.edu	37	1	78429830	78429830	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr1:78429830C>A	ENST00000370768.2	-	12	1039	c.958G>T	c.(958-960)Gaa>Taa	p.E320*	FUBP1_ENST00000436586.2_Nonsense_Mutation_p.E341*|FUBP1_ENST00000370767.1_Nonsense_Mutation_p.E320*	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	320	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GCTATCCTTTCGGGTGTTGTC	0.348			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(958-960)Gaa>Taa		far upstream element (FUSE) binding protein 1							213.0	205.0	208.0					1																	78429830		2203	4300	6503	SO:0001587	stop_gained	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78429830C>A	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.958G>T	1.37:g.78429830C>A	ENSP00000359804:p.Glu320*					FUBP1_ENST00000370768.2_Nonsense_Mutation_p.E320*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.E341*	p.E320*			Q96AE4	FUBP1_HUMAN			12	1045	-			320			KH 3.		Q12828	Nonsense_Mutation	SNP	ENST00000370768.2	37	c.958G>T	CCDS683.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901936	0.92035	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	.	.	.	5.81	5.81	0.92471	.	0.188815	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-15.2449	20.0643	0.97702	0.0:1.0:0.0:0.0	.	.	.	.	X	319;320;320;319;341	.	ENSP00000294623:E319X	E	-	1	0	FUBP1	78202418	1.000000	0.71417	1.000000	0.80357	0.446000	0.32137	7.818000	0.86416	2.737000	0.93849	0.650000	0.86243	GAA		0.348	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		15	149	1	0	0.000308642	1	0.000316984	15	149				
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q					mastermind-like 3 (Drosophila)									p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542																																						ENST00000398940.1																			2	Substitution - coding silent(2)	p.Q497Q(2)	prostate(2)	breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.e1+1		mastermind-like 3 (Drosophila)							13.0	19.0	17.0					4																	140811099		2117	4226	6343	SO:0001630	splice_region_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811099C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000398940.1:c.108+1G>A	4.37:g.140811099C>T						MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q	p.Q36_splice			Q96JK9	MAML3_HUMAN			1	107	-	all_hematologic(180;0.162)		497						Splice_Site	SNP	ENST00000398940.1	37	c.108_splice																																																																																					0.542	MAML3-202	KNOWN	basic	protein_coding	protein_coding			Silent	6	91	0	0	0	1	0	6	91				
SLC34A1	6569	broad.mit.edu	37	5	176824788	176824788	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr5:176824788C>T	ENST00000324417.5	+	13	1512	c.1421C>T	c.(1420-1422)gCc>gTc	p.A474V	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	474					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCAGATTGCCCTCTGTCAC	0.612																																						ENST00000324417.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1420-1422)gCc>gTc		solute carrier family 34 (type II sodium/phosphate contransporter), member 1							101.0	86.0	91.0					5																	176824788		2203	4300	6503	SO:0001583	missense	6569				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr5:176824788C>T	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.1421C>T	5.37:g.176824788C>T	ENSP00000321424:p.Ala474Val					SLC34A1_ENST00000513614.1_3'UTR	p.A474V	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1512	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	474					B4DPE3	Missense_Mutation	SNP	ENST00000324417.5	37	c.1421C>T	CCDS4418.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874163	0.91664	.	.	ENSG00000131183	ENST00000324417	D	0.87809	-2.3	4.85	4.85	0.62838	.	0.114316	0.64402	D	0.000017	D	0.95332	0.8485	H	0.94222	3.51	0.80722	D	1	D	0.67145	0.996	D	0.70016	0.967	D	0.96602	0.9445	10	0.87932	D	0	-18.4326	18.169	0.89739	0.0:1.0:0.0:0.0	.	474	Q06495	NPT2A_HUMAN	V	474	ENSP00000321424:A474V	ENSP00000321424:A474V	A	+	2	0	SLC34A1	176757394	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	7.559000	0.82265	2.512000	0.84698	0.484000	0.47621	GCC		0.612	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052		4	165	0	0	0	1	0	4	165				
RAB3GAP1	22930	broad.mit.edu	37	2	135922204	135922204	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr2:135922204A>G	ENST00000264158.8	+	23	2690	c.2647A>G	c.(2647-2649)Acc>Gcc	p.T883A	ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.T839A|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.T883A	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	883					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AGTGTTAGTCACCGGTGCAGG	0.512																																						ENST00000264158.8																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(2647-2649)Acc>Gcc		RAB3 GTPase activating protein subunit 1 (catalytic)							125.0	103.0	110.0					2																	135922204		2203	4300	6503	SO:0001583	missense	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135922204A>G	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2647A>G	2.37:g.135922204A>G	ENSP00000264158:p.Thr883Ala					RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.T839A|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.T883A|ZRANB3_ENST00000412849.1_Intron	p.T883A	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	23	2690	+			883					A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	c.2647A>G	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	A	3.387	-0.125175	0.06795	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.40476	1.03;1.03;1.04	4.97	-4.14	0.03892	.	0.852782	0.10816	N	0.630944	T	0.15219	0.0367	N	0.08118	0	0.31065	N	0.713713	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41538	-0.9503	10	0.06891	T	0.86	-0.3512	6.0764	0.19917	0.2582:0.1057:0.5214:0.1147	.	883;883	C9J837;Q15042	.;RB3GP_HUMAN	A	883;839;883	ENSP00000264158:T883A;ENSP00000444306:T839A;ENSP00000411418:T883A	ENSP00000264158:T883A	T	+	1	0	RAB3GAP1	135638674	0.165000	0.22948	0.038000	0.18304	0.978000	0.69477	0.115000	0.15540	-0.949000	0.03663	-0.353000	0.07706	ACC		0.512	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		3	60	0	0	0	1	0	3	60				
ELAC2	60528	broad.mit.edu	37	17	12908353	12908353	+	Silent	SNP	T	T	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr17:12908353T>C	ENST00000338034.4	-	11	1175	c.936A>G	c.(934-936)ccA>ccG	p.P312P	ELAC2_ENST00000426905.3_Silent_p.P272P|ELAC2_ENST00000395962.2_Silent_p.P293P|ELAC2_ENST00000609345.1_5'UTR	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	312					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						AGCTTTCATCTGGACATTCTA	0.512																																						ENST00000338034.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						c.(934-936)ccA>ccG		elaC ribonuclease Z 2							209.0	200.0	203.0					17																	12908353		2203	4300	6503	SO:0001819	synonymous_variant	60528				tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding	g.chr17:12908353T>C	AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"""tRNase Z (long form)"""	605367	"""elaC (E. coli) homolog 2"", ""elaC homolog 2 (E. coli)"""			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.936A>G	17.37:g.12908353T>C						ELAC2_ENST00000395962.2_Silent_p.P293P|ELAC2_ENST00000426905.3_Silent_p.P272P	p.P312P	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN			11	1175	-			312					B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Silent	SNP	ENST00000338034.4	37	c.936A>G	CCDS11164.1	.	.	.	.	.	.	.	.	.	.	T	11.07	1.529937	0.27387	.	.	ENSG00000006744	ENST00000446899	.	.	.	4.78	-8.16	0.01061	.	.	.	.	.	T	0.32194	0.0821	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41305	-0.9516	4	.	.	.	-12.8208	0.5451	0.00652	0.3424:0.25:0.2319:0.1757	.	.	.	.	G	92	.	.	R	-	1	2	ELAC2	12849078	0.023000	0.18921	0.880000	0.34516	0.992000	0.81027	-1.055000	0.03493	-1.364000	0.02161	-0.250000	0.11733	AGA		0.512	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5			37	310	0	0	0	1	0	37	310				
RBMX	27316	broad.mit.edu	37	X	135957425	135957425	+	Silent	SNP	T	T	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chrX:135957425T>C	ENST00000320676.7	-	7	928	c.774A>G	c.(772-774)agA>agG	p.R258R	RBMX_ENST00000565438.1_Silent_p.R130R|RBMX_ENST00000570135.1_Silent_p.R123R|RBMX_ENST00000431446.3_Missense_Mutation_p.E150G|RBMX_ENST00000496459.2_5'Flank|RBMX_ENST00000562646.1_Silent_p.R258R	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	258					cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					ACCTATATCCTCTTGATGGAT	0.393																																						ENST00000431446.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33						c.(448-450)gAg>gGg		RNA binding motif protein, X-linked							120.0	95.0	104.0					X																	135957425		2203	4300	6503	SO:0001819	synonymous_variant	27316					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:135957425T>C		CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.774A>G	X.37:g.135957425T>C						RBMX_ENST00000562646.1_Silent_p.R258R|RBMX_ENST00000570135.1_Silent_p.R123R|RBMX_ENST00000320676.7_Silent_p.R258R|RBMX_ENST00000565438.1_Silent_p.R130R	p.E150G	NM_001164803.1	NP_001158275.1	P38159	HNRPG_HUMAN			5	603	-	Acute lymphoblastic leukemia(192;0.000127)		0					B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	ENST00000320676.7	37	c.449A>G	CCDS14661.1	.	.	.	.	.	.	.	.	.	.	.	16.54	3.152622	0.57259	.	.	ENSG00000147274	ENST00000431446	T	0.08458	3.09	5.6	5.6	0.85130	.	.	.	.	.	T	0.08268	0.0206	.	.	.	0.80722	D	1	B	0.26445	0.149	B	0.20384	0.029	T	0.09618	-1.0666	8	0.87932	D	0	.	9.7035	0.40200	0.0:0.0885:0.0:0.9115	.	150	B4E3U4	.	G	150	ENSP00000411989:E150G	ENSP00000411989:E150G	E	-	2	0	RBMX	135785091	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.938000	0.40203	1.990000	0.58119	0.486000	0.48141	GAG		0.393	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		4	276	0	0	0	1	0	4	276				
BRWD1	54014	broad.mit.edu	37	21	40570895	40570895	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr21:40570895G>T	ENST00000333229.2	-	40	5774	c.5447C>A	c.(5446-5448)aCc>aAc	p.T1816N	BRWD1_ENST00000342449.3_Missense_Mutation_p.T1816N|BRWD1_ENST00000380800.3_Missense_Mutation_p.T1816N	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1816					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T1816N(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CAGAATCTTGGTTTTTTTAAA	0.388																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			2	Substitution - Missense(2)	p.T1816N(2)	large_intestine(2)	cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(5446-5448)aCc>aAc		bromodomain and WD repeat domain containing 1							121.0	123.0	122.0					21																	40570895		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40570895G>T	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.5447C>A	21.37:g.40570895G>T	ENSP00000330753:p.Thr1816Asn					BRWD1_ENST00000380800.3_Missense_Mutation_p.T1816N|BRWD1_ENST00000333229.2_Missense_Mutation_p.T1816N	p.T1816N	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			40	5525	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1816					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.5447C>A	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.966851	0.34659	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.54071	0.59;0.61;0.69	5.48	5.48	0.80851	.	0.374434	0.25820	N	0.028090	T	0.45357	0.1338	L	0.29908	0.895	0.80722	D	1	P;B	0.34757	0.467;0.072	B;B	0.34652	0.187;0.032	T	0.49254	-0.8959	10	0.66056	D	0.02	-3.482	17.5514	0.87876	0.0:0.0:1.0:0.0	.	1816;1816	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	N	1816	ENSP00000330753:T1816N;ENSP00000344333:T1816N;ENSP00000370178:T1816N	ENSP00000330753:T1816N	T	-	2	0	BRWD1	39492765	1.000000	0.71417	1.000000	0.80357	0.189000	0.23516	3.508000	0.53378	2.576000	0.86940	0.655000	0.94253	ACC		0.388	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		20	309	1	0	1.00905e-13	1	1.08011e-13	20	309				
NOTCH1	4851	broad.mit.edu	37	9	139399934	139399934	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr9:139399934A>G	ENST00000277541.6	-	25	4489	c.4414T>C	c.(4414-4416)Tgc>Cgc	p.C1472R		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1472					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCCCAGCCGCACGCGTGGTTG	0.642			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(4414-4416)Tgc>Cgc		notch 1							35.0	42.0	40.0					9																	139399934		2160	4248	6408	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139399934A>G	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4414T>C	9.37:g.139399934A>G	ENSP00000277541:p.Cys1472Arg	HNSCC(8;0.001)					p.C1472R	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	25	4489	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1472					Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.4414T>C	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	A	19.23	3.786754	0.70337	.	.	ENSG00000148400	ENST00000277541	D	0.97505	-4.41	4.18	4.18	0.49190	Notch domain (5);	0.000000	0.85682	U	0.000000	D	0.98614	0.9536	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99360	1.0917	10	0.72032	D	0.01	.	12.402	0.55418	1.0:0.0:0.0:0.0	.	1472	P46531	NOTC1_HUMAN	R	1472	ENSP00000277541:C1472R	ENSP00000277541:C1472R	C	-	1	0	NOTCH1	138519755	1.000000	0.71417	0.955000	0.39395	0.776000	0.43924	8.767000	0.91732	1.517000	0.48917	0.472000	0.43445	TGC		0.642	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		4	75	0	0	0	1	0	4	75				
XPOT	11260	broad.mit.edu	37	12	64828630	64828630	+	Missense_Mutation	SNP	G	G	A	rs530887026		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr12:64828630G>A	ENST00000332707.5	+	21	3155	c.2626G>A	c.(2626-2628)Gca>Aca	p.A876T		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	876	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.A876S(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		CATTGTCCCCGCATGTTTCCT	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		17214	0.0		0.0	False		,,,				2504	0.001					ENST00000332707.5																			1	Substitution - Missense(1)	p.A876S(1)	skin(1)	NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2626-2628)Gca>Aca		exportin, tRNA							149.0	142.0	144.0					12																	64828630		2203	4300	6503	SO:0001583	missense	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64828630G>A	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.2626G>A	12.37:g.64828630G>A	ENSP00000327821:p.Ala876Thr						p.A876T	NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	21	3155	+			876			Necessary for tRNA-binding, cytoplasmic localization and nuclear export.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	c.2626G>A	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169469	0.78452	.	.	ENSG00000184575	ENST00000332707	T	0.23147	1.92	5.29	5.29	0.74685	.	0.148824	0.64402	D	0.000011	T	0.21550	0.0519	L	0.46614	1.455	0.80722	D	1	P	0.41041	0.736	B	0.30316	0.114	T	0.03545	-1.1026	9	.	.	.	-8.5822	17.4857	0.87687	0.0:0.0:1.0:0.0	.	876	O43592	XPOT_HUMAN	T	876	ENSP00000327821:A876T	.	A	+	1	0	XPOT	63114897	1.000000	0.71417	0.360000	0.25837	0.985000	0.73830	9.655000	0.98512	2.663000	0.90544	0.555000	0.69702	GCA		0.373	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		4	269	0	0	0	1	0	4	269				
ADNP	23394	broad.mit.edu	37	20	49509063	49509063	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr20:49509063G>A	ENST00000396029.3	-	5	2755	c.2188C>T	c.(2188-2190)Cga>Tga	p.R730*	ADNP_ENST00000371602.4_Nonsense_Mutation_p.R730*|ADNP_ENST00000396032.3_Nonsense_Mutation_p.R730*|ADNP_ENST00000349014.3_Nonsense_Mutation_p.R730*	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	730					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TCTAACTTTCGTTTTTTCAGT	0.443																																						ENST00000396029.3																			0				NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						c.(2188-2190)Cga>Tga		activity-dependent neuroprotector homeobox							81.0	80.0	81.0					20																	49509063		2203	4300	6503	SO:0001587	stop_gained	23394					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:49509063G>A	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.2188C>T	20.37:g.49509063G>A	ENSP00000379346:p.Arg730*					ADNP_ENST00000396032.3_Nonsense_Mutation_p.R730*|ADNP_ENST00000371602.4_Nonsense_Mutation_p.R730*|ADNP_ENST00000349014.3_Nonsense_Mutation_p.R730*	p.R730*	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN			5	2755	-			730					E1P5Y2|O94881|Q5BKU2|Q9UG34	Nonsense_Mutation	SNP	ENST00000396029.3	37	c.2188C>T	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	G	41	9.105260	0.99068	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	6.07	2.77	0.32553	.	0.046201	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.7209	10.9823	0.47501	0.0702:0.0:0.616:0.3138	.	.	.	.	X	730	.	ENSP00000342905:R730X	R	-	1	2	ADNP	48942470	0.906000	0.30813	0.985000	0.45067	0.800000	0.45204	1.126000	0.31344	0.893000	0.36288	-0.140000	0.14226	CGA		0.443	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		20	197	0	0	0	1	0	20	197				
ZBTB9	221504	broad.mit.edu	37	6	33423477	33423477	+	Silent	SNP	A	A	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr6:33423477A>C	ENST00000395064.2	+	2	868	c.600A>C	c.(598-600)ggA>ggC	p.G200G		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	200					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						GAGGGGAGGGAAGTGAACTGG	0.552																																						ENST00000395064.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						c.(598-600)ggA>ggC		zinc finger and BTB domain containing 9							71.0	75.0	74.0					6																	33423477		2203	4300	6503	SO:0001819	synonymous_variant	221504				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33423477A>C	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.600A>C	6.37:g.33423477A>C							p.G200G	NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN			2	868	+			200					A2AB19	Silent	SNP	ENST00000395064.2	37	c.600A>C	CCDS4780.1																																																																																				0.552	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1	NM_152735		51	111	0	0	0	1	0	51	111				
KRTAP19-8	728299	broad.mit.edu	37	21	32410673	32410673	+	Silent	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr21:32410673G>A	ENST00000382822.2	-	1	122	c.90C>T	c.(88-90)ggC>ggT	p.G30G		NM_001099219.1	NP_001092689.1	Q3LI54	KR198_HUMAN	keratin associated protein 19-8	30						intermediate filament (GO:0005882)				endometrium(2)|upper_aerodigestive_tract(1)	3						TGCGGAAGCTGCCATAGCCGC	0.537																																						ENST00000382822.2																			0				endometrium(2)|upper_aerodigestive_tract(1)	3						c.(88-90)ggC>ggT		keratin associated protein 19-8							92.0	112.0	105.0					21																	32410673		2203	4300	6503	SO:0001819	synonymous_variant	728299					intermediate filament		g.chr21:32410673G>A	AB096964	CCDS42917.1	21q22.11	2007-11-23			ENSG00000206102	ENSG00000206102		"""Keratin associated proteins"""	33898	protein-coding gene	gene with protein product							Standard	NM_001099219		Approved		uc010glt.3	Q3LI54	OTTHUMG00000057787	ENST00000382822.2:c.90C>T	21.37:g.32410673G>A							p.G30G	NM_001099219.1	NP_001092689.1	Q3LI54	KR198_HUMAN			1	122	-			30						Silent	SNP	ENST00000382822.2	37	c.90C>T	CCDS42917.1																																																																																				0.537	KRTAP19-8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000128239.3	NM_001099219		24	252	0	0	0	1	0	24	252				
CIR1	9541	broad.mit.edu	37	2	175243709	175243709	+	Silent	SNP	T	T	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr2:175243709T>C	ENST00000342016.3	-	7	518	c.426A>G	c.(424-426)gaA>gaG	p.E142E	CIR1_ENST00000362053.5_Silent_p.E142E	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	142					mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						ACAAAGGACATTCTCGATCTG	0.403																																						ENST00000342016.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						c.(424-426)gaA>gaG		corepressor interacting with RBPJ, 1							179.0	149.0	159.0					2																	175243709		2203	4300	6503	SO:0001819	synonymous_variant	9541				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:175243709T>C	AF098297	CCDS2256.1	2q31.1	2009-07-14			ENSG00000138433	ENSG00000138433			24217	protein-coding gene	gene with protein product	"""recepin"", ""CBF1 interacting corepressor"""	605228				15652350, 11222720, 9874765	Standard	NM_004882		Approved	CIR	uc002uim.3	Q86X95	OTTHUMG00000132338	ENST00000342016.3:c.426A>G	2.37:g.175243709T>C						CIR1_ENST00000362053.5_Silent_p.E142E	p.E142E	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN			7	518	-			142					A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Silent	SNP	ENST00000342016.3	37	c.426A>G	CCDS2256.1	.	.	.	.	.	.	.	.	.	.	T	10.04	1.241377	0.22711	.	.	ENSG00000138433	ENST00000377973	.	.	.	5.33	0.425	0.16473	.	.	.	.	.	T	0.57814	0.2079	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52200	-0.8607	4	.	.	.	.	10.0538	0.42233	0.0:0.4027:0.0:0.5973	.	.	.	.	V	47	.	.	M	-	1	0	CIR1	174951955	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.839000	0.27586	0.109000	0.17891	-0.280000	0.10049	ATG		0.403	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255460.1	NM_004882		22	228	0	0	0	1	0	22	228				
PLEKHM3	389072	broad.mit.edu	37	2	208725913	208725913	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr2:208725913C>T	ENST00000427836.2	-	7	2513	c.2024G>A	c.(2023-2025)aGt>aAt	p.S675N	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.S675N	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	675					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTACAAAGACTGCAGCTGTA	0.438																																						ENST00000427836.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(2023-2025)aGt>aAt		pleckstrin homology domain containing, family M, member 3							145.0	139.0	141.0					2																	208725913		1936	4148	6084	SO:0001583	missense	389072				intracellular signal transduction		metal ion binding	g.chr2:208725913C>T	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.2024G>A	2.37:g.208725913C>T	ENSP00000417003:p.Ser675Asn					PLEKHM3_ENST00000389247.4_Missense_Mutation_p.S675N	p.S675N	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN			7	2513	-			675					B9EKV2|Q8WW68	Missense_Mutation	SNP	ENST00000427836.2	37	c.2024G>A	CCDS42808.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.636254	0.87760	.	.	ENSG00000178385	ENST00000427836;ENST00000389247	D;D	0.83755	-1.75;-1.76	5.06	5.06	0.68205	Protein kinase C-like, phorbol ester/diacylglycerol binding (1);	0.000000	0.85682	D	0.000000	D	0.88822	0.6541	L	0.55481	1.735	0.80722	D	1	D	0.64830	0.994	D	0.67548	0.952	D	0.87532	0.2453	10	0.41790	T	0.15	.	18.9822	0.92758	0.0:1.0:0.0:0.0	.	675	Q6ZWE6	PKHM3_HUMAN	N	675	ENSP00000417003:S675N;ENSP00000373899:S675N	ENSP00000373899:S675N	S	-	2	0	PLEKHM3	208434158	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.606000	0.82863	2.763000	0.94921	0.655000	0.94253	AGT		0.438	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		95	168	0	0	0	1	0	95	168				
NOA1	84273	broad.mit.edu	37	4	57832878	57832878	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr4:57832878C>A	ENST00000264230.4	-	5	2909	c.1672G>T	c.(1672-1674)Gtc>Ttc	p.V558F		NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	558					apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										GAAGCCACGACTGTAAACCAA	0.448																																						ENST00000264230.4																			0											c.(1672-1674)Gtc>Ttc		nitric oxide associated 1							158.0	137.0	144.0					4																	57832878		2203	4300	6503	SO:0001583	missense	84273						GTP binding	g.chr4:57832878C>A	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.1672G>T	4.37:g.57832878C>A	ENSP00000264230:p.Val558Phe						p.V558F	NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN			5	2909	-			558					Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	ENST00000264230.4	37	c.1672G>T	CCDS3510.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443913	0.83993	.	.	ENSG00000084092	ENST00000264230	T	0.36340	1.26	5.81	5.81	0.92471	.	0.060979	0.64402	D	0.000005	T	0.62732	0.2452	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.62181	-0.6908	10	0.59425	D	0.04	.	20.0745	0.97737	0.0:1.0:0.0:0.0	.	558	Q8NC60	CD014_HUMAN	F	558	ENSP00000264230:V558F	ENSP00000264230:V558F	V	-	1	0	C4orf14	57527635	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	4.016000	0.57159	2.748000	0.94277	0.462000	0.41574	GTC		0.448	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		7	160	1	0	0.000274275	1	0.000285547	7	160				
HAP1	9001	broad.mit.edu	37	17	39884518	39884518	+	Missense_Mutation	SNP	G	G	A	rs199907166		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr17:39884518G>A	ENST00000310778.5	-	7	1144	c.1135C>T	c.(1135-1137)Cgg>Tgg	p.R379W	HAP1_ENST00000393939.2_Missense_Mutation_p.R379W|HAP1_ENST00000347901.4_Missense_Mutation_p.R379W|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Missense_Mutation_p.R387W|RN7SL399P_ENST00000471648.2_RNA			P54257	HAP1_HUMAN	huntingtin-associated protein 1	379	Glu-rich.|HAP1 N-terminal.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TGCTGCTGCCGTTCATAGTTT	0.652													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20003	0.0		0.0	False		,,,				2504	0.0					ENST00000393939.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21						c.(1135-1137)Cgg>Tgg		huntingtin-associated protein 1							48.0	42.0	44.0					17																	39884518		2203	4300	6503	SO:0001583	missense	9001				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	g.chr17:39884518G>A	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1135C>T	17.37:g.39884518G>A	ENSP00000309392:p.Arg379Trp					HAP1_ENST00000347901.4_Missense_Mutation_p.R379W|HAP1_ENST00000341193.5_Missense_Mutation_p.R387W|HAP1_ENST00000310778.5_Missense_Mutation_p.R379W|JUP_ENST00000540235.1_Intron	p.R379W			P54257	HAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		7	1144	-		Breast(137;0.000162)	379			Glu-rich.|HAP1 N-terminal.		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	ENST00000310778.5	37	c.1135C>T		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	15.33	2.801153	0.50315	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	4.14	2.07	0.26955	.	0.201432	0.24456	N	0.038377	T	0.42698	0.1214	L	0.57536	1.79	0.58432	D	0.999991	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.66084	0.915;0.941;0.915;0.913	T	0.27839	-1.0062	10	0.87932	D	0	-20.1231	4.947	0.13994	0.1115:0.0:0.6736:0.2149	.	379;387;379;379	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	W	379;379;379;387	ENSP00000377513:R379W;ENSP00000309392:R379W;ENSP00000334002:R379W;ENSP00000343170:R387W	ENSP00000309392:R379W	R	-	1	2	HAP1	37138044	0.617000	0.27043	0.412000	0.26496	0.576000	0.36127	0.685000	0.25378	0.379000	0.24794	-0.309000	0.09137	CGG		0.652	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		4	111	0	0	0	1	0	4	111				
SAGE1	55511	broad.mit.edu	37	X	134988634	134988634	+	Silent	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chrX:134988634C>T	ENST00000370709.3	+	6	660	c.660C>T	c.(658-660)aaC>aaT	p.N220N	SAGE1_ENST00000324447.3_Silent_p.N220N|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000535938.1_Silent_p.N220N			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	220						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CACCTGATAACGTGTTGTTGA	0.423																																						ENST00000535938.1																			0				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(658-660)aaC>aaT		sarcoma antigen 1							204.0	168.0	180.0					X																	134988634		2203	4300	6503	SO:0001819	synonymous_variant	55511							g.chrX:134988634C>T	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.660C>T	X.37:g.134988634C>T						SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Silent_p.N220N|SAGE1_ENST00000324447.3_Silent_p.N220N	p.N220N	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN			7	827	+	Acute lymphoblastic leukemia(192;0.000127)		220					Q5JNW0	Silent	SNP	ENST00000370709.3	37	c.660C>T	CCDS14652.1																																																																																				0.423	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		150	513	0	0	0	1	0	150	513				
ASIC5	51802	broad.mit.edu	37	4	156757955	156757955	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr4:156757955G>A	ENST00000537611.2	-	8	1167	c.1121C>T	c.(1120-1122)cCc>cTc	p.P374L		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	374					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										ACAAGAAACGGGGCAGCTAGA	0.358																																						ENST00000537611.2																			0											c.(1120-1122)cCc>cTc		acid-sensing (proton-gated) ion channel family member 5							81.0	87.0	85.0					4																	156757955		2203	4300	6503	SO:0001583	missense	51802					integral to membrane|plasma membrane		g.chr4:156757955G>A	AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"""amiloride-sensitive cation channel 5, intestinal"""	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.1121C>T	4.37:g.156757955G>A	ENSP00000442477:p.Pro374Leu						p.P374L	NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN			8	1167	-			374						Missense_Mutation	SNP	ENST00000537611.2	37	c.1121C>T	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247100	0.80024	.	.	ENSG00000256394	ENST00000537611	T	0.62232	0.04	4.8	4.8	0.61643	.	0.000000	0.64402	D	0.000004	T	0.68659	0.3025	M	0.87900	2.915	0.58432	D	0.999999	B	0.23937	0.094	B	0.32149	0.141	T	0.67673	-0.5610	10	0.08599	T	0.76	-11.7397	18.7444	0.91787	0.0:0.0:1.0:0.0	.	374	Q9NY37	ACCN5_HUMAN	L	374	ENSP00000442477:P374L	ENSP00000264432:P374L	P	-	2	0	ACCN5	156977405	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	6.212000	0.72188	2.594000	0.87642	0.655000	0.94253	CCC		0.358	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1			9	198	0	0	0	1	0	9	198				
ANKRD29	147463	broad.mit.edu	37	18	21226219	21226219	+	Silent	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr18:21226219G>A	ENST00000592179.1	-	3	319	c.165C>T	c.(163-165)taC>taT	p.Y55Y	ANKRD29_ENST00000322980.9_Silent_p.Y55Y|ANKRD29_ENST00000284207.7_Silent_p.Y55Y	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	55										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGTGGCCAGCGTAGGCAGCAA	0.512																																						ENST00000592179.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13						c.(163-165)taC>taT		ankyrin repeat domain 29							100.0	84.0	90.0					18																	21226219		2203	4300	6503	SO:0001819	synonymous_variant	147463							g.chr18:21226219G>A	AK057782	CCDS11879.1	18q11.2	2013-01-10			ENSG00000154065	ENSG00000154065		"""Ankyrin repeat domain containing"""	27110	protein-coding gene	gene with protein product							Standard	NM_173505		Approved	FLJ25053	uc002kun.3	Q8N6D5	OTTHUMG00000131875	ENST00000592179.1:c.165C>T	18.37:g.21226219G>A						ANKRD29_ENST00000322980.9_Silent_p.Y55Y|ANKRD29_ENST00000284207.7_Silent_p.Y55Y	p.Y55Y	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN			3	319	-	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)		55					B2R972|Q6ZWE8|Q96LU9	Silent	SNP	ENST00000592179.1	37	c.165C>T	CCDS11879.1																																																																																				0.512	ANKRD29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254825.1	NM_173505		13	86	0	0	0	1	0	13	86				
OR1S1	219959	broad.mit.edu	37	11	57982721	57982721	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr11:57982721G>A	ENST00000309433.6	+	1	505	c.505G>A	c.(505-507)Gct>Act	p.A169T		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TAATATTATTGCTCTGACACA	0.478																																						ENST00000309433.6																			0				breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48						c.(505-507)Gct>Act		olfactory receptor, family 1, subfamily S, member 1							217.0	194.0	202.0					11																	57982721		2201	4296	6497	SO:0001583	missense	219959				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57982721G>A	BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"""GPCR / Class A : Olfactory receptors"""	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.505G>A	11.37:g.57982721G>A	ENSP00000311688:p.Ala169Thr						p.A169T	NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN			1	505	+		Breast(21;0.0589)	169					Q6IFG3	Missense_Mutation	SNP	ENST00000309433.6	37	c.505G>A	CCDS31546.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560544	0.27827	.	.	ENSG00000172774	ENST00000309433	T	0.39056	1.1	3.45	2.49	0.30216	GPCR, rhodopsin-like superfamily (1);	0.141282	0.32473	N	0.006054	T	0.39860	0.1094	L	0.41415	1.275	0.09310	N	0.999993	P	0.49358	0.923	P	0.51657	0.676	T	0.14309	-1.0477	10	0.66056	D	0.02	.	6.2948	0.21079	0.1098:0.0:0.6952:0.1949	.	169	Q8NH92	OR1S1_HUMAN	T	169	ENSP00000311688:A169T	ENSP00000311688:A169T	A	+	1	0	OR1S1	57739297	0.004000	0.15560	0.913000	0.36048	0.091000	0.18340	1.431000	0.34925	1.770000	0.52166	0.479000	0.44913	GCT		0.478	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		27	460	0	0	0	1	0	27	460				
KRTAP10-7	386675	broad.mit.edu	37	21	46020910	46020910	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr21:46020910G>C	ENST00000380102.2	+	1	414	c.389G>C	c.(388-390)tGt>tCt	p.C130S	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	130	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CCTGTGTACTGTGTGCCTGTC	0.632																																						ENST00000380102.2																			0				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(388-390)tGt>tCt		keratin associated protein 10-7							172.0	167.0	169.0					21																	46020910		2188	4300	6488	SO:0001583	missense	386675					keratin filament		g.chr21:46020910G>C	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.389G>C	21.37:g.46020910G>C	ENSP00000369445:p.Cys130Ser					TSPEAR_ENST00000323084.4_Intron	p.C130S	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN			1	414	+			130			30 X 5 AA repeats of C-C-X(3).		Q0VDJ8|Q70LJ2	Missense_Mutation	SNP	ENST00000380102.2	37	c.389G>C		.	.	.	.	.	.	.	.	.	.	N	4.017	0.000517	0.07819	.	.	ENSG00000205441	ENST00000380102	T	0.02682	4.2	3.43	1.45	0.22620	.	.	.	.	.	T	0.05318	0.0141	M	0.86178	2.8	0.24591	N	0.993829	P	0.40909	0.732	B	0.34779	0.189	T	0.20538	-1.0272	9	0.66056	D	0.02	.	7.4489	0.27227	0.0:0.184:0.6262:0.1898	.	125	P60409-2	.	S	130	ENSP00000369445:C130S	ENSP00000369445:C130S	C	+	2	0	KRTAP10-7	44845338	0.947000	0.32204	0.002000	0.10522	0.002000	0.02628	1.804000	0.38873	0.239000	0.21243	-0.367000	0.07326	TGT		0.632	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		22	446	0	0	0	1	0	22	446				
MUC5B	727897	broad.mit.edu	37	11	1269135	1269135	+	Silent	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr11:1269135G>A	ENST00000529681.1	+	31	11083	c.11025G>A	c.(11023-11025)ccG>ccA	p.P3675P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.P3678P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3675	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAGCACCCCGGCCACCAGCT	0.587																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(11032-11034)ccG>ccA		mucin 5B, oligomeric mucus/gel-forming							82.0	102.0	95.0					11																	1269135		2021	4138	6159	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1269135G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11025G>A	11.37:g.1269135G>A						RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.P3675P	p.P3678P			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	11092	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3675	Missing (in Ref. 6; AAB61398).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.11034G>A	CCDS44515.2																																																																																				0.587	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		26	342	0	0	0	1	0	26	342				
WDR59	79726	broad.mit.edu	37	16	74943721	74943721	+	Splice_Site	SNP	A	A	G			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr16:74943721A>G	ENST00000262144.6	-	15	1614	c.1484T>C	c.(1483-1485)gTg>gCg	p.V495A		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	495										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GCTTCCCACCACAAAGGACTC	0.498																																						ENST00000262144.6																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						c.e15+1		WD repeat domain 59							45.0	45.0	45.0					16																	74943721		2198	4300	6498	SO:0001630	splice_region_variant	79726							g.chr16:74943721A>G	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.1485+1T>C	16.37:g.74943721A>G							p.V495_splice	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN			15	1614	-			495					B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Splice_Site	SNP	ENST00000262144.6	37	c.1485_splice	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	A	16.68	3.191808	0.58017	.	.	ENSG00000103091	ENST00000262144	T	0.42131	0.98	5.65	5.65	0.86999	Ubiquitin-conjugating enzyme/RWD-like (1);	0.051074	0.85682	D	0.000000	T	0.32971	0.0847	L	0.36672	1.1	0.80722	D	1	B	0.29037	0.231	B	0.27608	0.081	T	0.11203	-1.0597	10	0.10636	T	0.68	-20.2792	16.1761	0.81851	1.0:0.0:0.0:0.0	rs5023505	495	Q6PJI9	WDR59_HUMAN	A	495	ENSP00000262144:V495A	ENSP00000262144:V495A	V	-	2	0	WDR59	73501222	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.178000	0.94855	2.277000	0.76020	0.528000	0.53228	GTG		0.498	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581	Missense_Mutation	4	96	0	0	0	1	0	4	96				
KRT17P2	339241	broad.mit.edu	37	17	18333079	18333079	+	RNA	SNP	T	T	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr17:18333079T>C	ENST00000326333.8	+	0	901				KRT16P1_ENST00000581027.1_RNA					keratin 17 pseudogene 2																		CTGAGCCGCATCCTGAACGAG	0.592																																						ENST00000580052.1																			0																																																			0							g.chr17:18333079T>C			17p11.2	2013-06-25			ENSG00000186831	ENSG00000186831			6429	pseudogene	pseudogene						1281771	Standard	NG_002778		Approved				OTTHUMG00000059248		17.37:g.18333079T>C						KRT17P2_ENST00000326333.8_RNA								0	43	+									RNA	SNP	ENST00000326333.8	37			.	.	.	.	.	.	.	.	.	.	T	7.813	0.716177	0.15306	.	.	ENSG00000186831	ENST00000300992	.	.	.	2.87	1.72	0.24424	.	0.298550	0.24152	N	0.041065	T	0.41650	0.1168	.	.	.	.	.	.	.	.	.	.	.	.	T	0.50013	-0.8877	5	0.52906	T	0.07	.	3.5188	0.07735	0.0:0.1461:0.2332:0.6207	.	.	.	.	T	253	.	ENSP00000300992:I253T	I	+	2	0	AL353997.5	18273804	0.998000	0.40836	0.997000	0.53966	0.345000	0.29048	4.952000	0.63618	1.080000	0.41073	0.155000	0.16302	ATC		0.592	KRT17P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000446573.1	NG_002778		23	79	0	0	0	1	0	23	79				
SH3KBP1	30011	broad.mit.edu	37	X	19713790	19713790	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chrX:19713790C>T	ENST00000397821.3	-	5	750	c.460G>A	c.(460-462)Gag>Aag	p.E154K	SH3KBP1_ENST00000379698.4_Missense_Mutation_p.E117K|SH3KBP1_ENST00000379697.3_Missense_Mutation_p.E154K	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	154	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CCTGACAGCTCCTTGATGAAG	0.512																																						ENST00000397821.3																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						c.(460-462)Gag>Aag		SH3-domain kinase binding protein 1							151.0	125.0	134.0					X																	19713790		2203	4300	6503	SO:0001583	missense	30011				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding	g.chrX:19713790C>T	AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.460G>A	X.37:g.19713790C>T	ENSP00000380921:p.Glu154Lys					SH3KBP1_ENST00000379697.3_Missense_Mutation_p.E154K|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.E117K	p.E154K	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN			5	750	-			154			SH3 2.		B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	ENST00000397821.3	37	c.460G>A	CCDS14193.1	.	.	.	.	.	.	.	.	.	.	C	35	5.474082	0.96291	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000397804;ENST00000379698;ENST00000379726;ENST00000379697;ENST00000432234;ENST00000431164	T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5	5.94	5.94	0.96194	Src homology-3 domain (3);Variant SH3 (1);	0.624487	0.17368	N	0.176783	T	0.50905	0.1643	L	0.46885	1.475	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.81914	0.986;0.995	T	0.24012	-1.0172	10	0.28530	T	0.3	-21.29	19.2985	0.94132	0.0:1.0:0.0:0.0	.	154;117	Q96B97;Q5JPT5	SH3K1_HUMAN;.	K	95;154;62;117;90;154;101;62	ENSP00000380921:E154K;ENSP00000369020:E117K;ENSP00000369049:E90K;ENSP00000369019:E154K;ENSP00000388766:E101K;ENSP00000409292:E62K	ENSP00000369019:E154K	E	-	1	0	SH3KBP1	19623711	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.214000	0.77958	2.509000	0.84616	0.529000	0.55759	GAG		0.512	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892		5	240	0	0	0	1	0	5	240				
SOAT1	6646	broad.mit.edu	37	1	179314136	179314136	+	Silent	SNP	T	T	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr1:179314136T>C	ENST00000367619.3	+	11	1185	c.1042T>C	c.(1042-1044)Ttg>Ctg	p.L348L	SOAT1_ENST00000535686.1_Silent_p.L84L|SOAT1_ENST00000540564.1_Silent_p.L290L|SOAT1_ENST00000539888.1_Silent_p.L283L	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	348					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TTGTGCCCCCTTGTTTCGGAA	0.408																																						ENST00000367619.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20						c.(1042-1044)Ttg>Ctg		sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)						277.0	262.0	267.0					1																	179314136		2203	4300	6503	SO:0001819	synonymous_variant	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179314136T>C	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"""acyl-Coenzyme A: cholesterol acyltransferase"""	102642	"""sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"""	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.1042T>C	1.37:g.179314136T>C						SOAT1_ENST00000540564.1_Silent_p.L290L|SOAT1_ENST00000535686.1_Silent_p.L84L|SOAT1_ENST00000539888.1_Silent_p.L283L	p.L348L	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN			11	1185	+			348					A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Silent	SNP	ENST00000367619.3	37	c.1042T>C	CCDS1330.1																																																																																				0.408	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101		16	311	0	0	0	1	0	16	311				
EFCAB6	64800	broad.mit.edu	37	22	44079702	44079702	+	Silent	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr22:44079702G>A	ENST00000262726.7	-	12	1429	c.1176C>T	c.(1174-1176)aaC>aaT	p.N392N	EFCAB6_ENST00000396231.2_Silent_p.N240N|EFCAB6_ENST00000358439.4_Intron	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	392					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTGTGATGATGTTTTCCTTGT	0.348																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(1174-1176)aaC>aaT		EF-hand calcium binding domain 6							278.0	253.0	261.0					22																	44079702		2203	4300	6503	SO:0001819	synonymous_variant	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44079702G>A	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1176C>T	22.37:g.44079702G>A						EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Silent_p.N240N	p.N392N	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			12	1429	-		Ovarian(80;0.0247)|all_neural(38;0.025)	392					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Silent	SNP	ENST00000262726.7	37	c.1176C>T	CCDS14049.1																																																																																				0.348	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		5	196	0	0	0	1	0	5	196				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			47	93	0	0	0	1	0	47	93				
HIST1H2AM	8336	broad.mit.edu	37	6	27860923	27860923	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr6:27860923G>C	ENST00000359611.2	-	1	40	c.5C>G	c.(4-6)tCt>tGt	p.S2C	HIST1H2BO_ENST00000303806.4_5'Flank|HIST1H3J_ENST00000479986.1_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	2						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						GCCACGTCCAGACATGGTAAA	0.572																																						ENST00000359611.2																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						c.(4-6)tCt>tGt		histone cluster 1, H2am							37.0	38.0	38.0					6																	27860923		2203	4300	6503	SO:0001583	missense	8336				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27860923G>C	X57138	CCDS4639.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000233224	ENSG00000278677		"""Histones / Replication-dependent"""	4735	protein-coding gene	gene with protein product		602796	"""H2A histone family, member N"", ""histone 1, H2am"""	H2AFN		1768865, 9439656, 12408966	Standard	NM_003514		Approved	H2A/n, H2A.1	uc003nkb.1	P0C0S8	OTTHUMG00000014494	ENST00000359611.2:c.5C>G	6.37:g.27860923G>C	ENSP00000352627:p.Ser2Cys						p.S2C	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN			1	40	-			2					P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000359611.2	37	c.5C>G	CCDS4639.1	.	.	.	.	.	.	.	.	.	.	G	9.545	1.114462	0.20795	.	.	ENSG00000233224	ENST00000359611	D	0.92965	-3.14	3.92	3.92	0.45320	.	0.000000	0.30329	U	0.009878	D	0.97185	0.9080	H	0.98612	4.28	0.23050	N	0.998373	.	.	.	.	.	.	D	0.91636	0.5323	8	0.87932	D	0	.	15.7198	0.77700	0.0:0.0:1.0:0.0	.	.	.	.	C	2	ENSP00000352627:S2C	ENSP00000352627:S2C	S	-	2	0	HIST1H2AM	27968902	0.999000	0.42202	1.000000	0.80357	0.724000	0.41520	2.754000	0.47532	2.475000	0.83589	0.561000	0.74099	TCT		0.572	HIST1H2AM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040162.1	NM_003514		27	63	0	0	0	1	0	27	63				
SLC25A15	10166	broad.mit.edu	37	13	41379349	41379349	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr13:41379349T>C	ENST00000338625.4	+	4	646	c.410T>C	c.(409-411)aTg>aCg	p.M137T	SLC25A15_ENST00000478827.1_3'UTR	NM_014252.3	NP_055067.1	Q9Y619	ORNT1_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15	137					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|L-ornithine transmembrane transport (GO:1903352)|mitochondrial ornithine transport (GO:0000066)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	L-ornithine transmembrane transporter activity (GO:0000064)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|stomach(1)|urinary_tract(1)	14		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	L-Ornithine(DB00129)	CTGCAGACCATGTATGAGATG	0.542																																						ENST00000338625.4																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|stomach(1)|urinary_tract(1)	14						c.(409-411)aTg>aCg		solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15	L-Ornithine(DB00129)						98.0	89.0	92.0					13																	41379349		2203	4300	6503	SO:0001583	missense	10166				cellular amino acid metabolic process|mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	g.chr13:41379349T>C	AF112968	CCDS9373.1	13q14	2013-05-22			ENSG00000102743	ENSG00000102743		"""Solute carriers"""	10985	protein-coding gene	gene with protein product	"""ornithine transporter 1"""	603861		ORNT1, HHH		10369256	Standard	NM_014252		Approved	ORC1, D13S327	uc001uxn.3	Q9Y619	OTTHUMG00000016776	ENST00000338625.4:c.410T>C	13.37:g.41379349T>C	ENSP00000342267:p.Met137Thr					SLC25A15_ENST00000478827.1_3'UTR	p.M137T	NM_014252.3	NP_055067.1	Q9Y619	ORNT1_HUMAN		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	4	646	+		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	137					Q5VZD8|Q9HC45	Missense_Mutation	SNP	ENST00000338625.4	37	c.410T>C	CCDS9373.1	.	.	.	.	.	.	.	.	.	.	T	17.04	3.285956	0.59867	.	.	ENSG00000102743	ENST00000338625;ENST00000443985	T	0.77229	-1.08	5.62	5.62	0.85841	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.72661	0.3488	L	0.39692	1.235	0.80722	D	1	B;B	0.32324	0.364;0.022	B;B	0.34931	0.192;0.021	T	0.73655	-0.3914	10	0.56958	D	0.05	.	14.9936	0.71412	0.0:0.0:0.0:1.0	.	77;137	B4DL63;Q9Y619	.;ORNT1_HUMAN	T	137;77	ENSP00000342267:M137T	ENSP00000342267:M137T	M	+	2	0	SLC25A15	40277349	1.000000	0.71417	0.997000	0.53966	0.859000	0.49053	7.941000	0.87700	2.141000	0.66446	0.528000	0.53228	ATG		0.542	SLC25A15-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276149.2	NM_014252		12	93	0	0	0	1	0	12	93				
MFSD3	113655	broad.mit.edu	37	8	145738653	145738653	+	IGR	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr8:145738653C>T	ENST00000301327.4	+	0	1548				RECQL4_ENST00000532237.1_5'UTR|RECQL4_ENST00000428558.2_Missense_Mutation_p.R804Q|CTD-2517M22.17_ENST00000580385.1_RNA	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			ACGCCCGGCCCGGCCCACGGC	0.716																																						ENST00000428558.2										"""N, F, S"""						"""osteosarcoma, skin basal and sqamous cell"""			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(2410-2412)cGg>cAg	Genes defective in diseases associated with sensitivity to DNA damaging agents	RecQ protein-like 4							8.0	12.0	11.0					8																	145738653		1924	4079	6003	SO:0001628	intergenic_variant	9401	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145738653C>T		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145738653C>T						CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'UTR	p.R804Q	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		15	2452	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		804			Helicase C-terminal.			Missense_Mutation	SNP	ENST00000301327.4	37	c.2411G>A	CCDS6431.1																																																																																				0.716	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2	NM_138431		18	27	0	0	0	1	0	18	27				
TRPM2	7226	broad.mit.edu	37	21	45855028	45855028	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr21:45855028G>A	ENST00000397928.1	+	28	4434	c.3989G>A	c.(3988-3990)cGc>cAc	p.R1330H	snoZ6_ENST00000581669.1_RNA|TRPM2_ENST00000300481.9_Missense_Mutation_p.R1276H|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.R1380H|TRPM2_ENST00000300482.5_Missense_Mutation_p.R1330H	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1330					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCCATGGGCCGCACAGGACTG	0.667																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(3988-3990)cGc>cAc		transient receptor potential cation channel, subfamily M, member 2							90.0	86.0	87.0					21																	45855028		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45855028G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3989G>A	21.37:g.45855028G>A	ENSP00000381023:p.Arg1330His					TRPM2_ENST00000300481.9_Missense_Mutation_p.R1276H|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.R1330H|TRPM2_ENST00000397932.2_Missense_Mutation_p.R1380H	p.R1330H	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			28	4434	+			1330					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.3989G>A	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003951	0.74932	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932;ENST00000540347	T;T;T;T	0.77750	-1.12;-1.12;2.24;-1.12	4.85	4.85	0.62838	NUDIX hydrolase domain-like (1);	0.000000	0.64402	D	0.000001	D	0.90758	0.7099	M	0.92317	3.295	0.48762	D	0.999705	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;P;D	0.87578	0.998;0.956;0.819;0.936	D	0.92961	0.6389	10	0.72032	D	0.01	-24.4413	17.0962	0.86635	0.0:0.0:1.0:0.0	.	11;1380;1116;1330	B4DVI8;E9PGK7;Q5KTC1;O94759	.;.;.;TRPM2_HUMAN	H	1330;1330;1276;1380;74	ENSP00000300482:R1330H;ENSP00000381023:R1330H;ENSP00000300481:R1276H;ENSP00000381026:R1380H	ENSP00000300481:R1276H	R	+	2	0	TRPM2	44679456	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	2.071000	0.41500	2.416000	0.81992	0.536000	0.68110	CGC		0.667	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		4	190	0	0	0	1	0	4	190				
COL1A1	1277	broad.mit.edu	37	17	48265901	48265901	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr17:48265901C>T	ENST00000225964.5	-	43	3315	c.3197G>A	c.(3196-3198)cGt>cAt	p.R1066H		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1066	Triple-helical region.		R -> C (in a patient with overlapping features of osteogenesis imperfecta and Ehlers-Danlos syndrome; pathogenic mutation; affects dimer formation, helix stability and organization of collagen fibrils). {ECO:0000269|PubMed:17206620}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	AGTCTCACCACGATCACCACT	0.652			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	"""PDGFB, USP6"""		"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(3196-3198)cGt>cAt		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						45.0	50.0	48.0					17																	48265901		2203	4300	6503	SO:0001583	missense	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48265901C>T	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.3197G>A	17.37:g.48265901C>T	ENSP00000225964:p.Arg1066His						p.R1066H	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			43	3315	-			1066		R -> C (in a patient with overlapping features of osteogenesis imperfecta and Ehlers-Danlos syndrome; pathogenic mutation; affects dimer formation, helix stability and organization of collagen fibrils).	Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	c.3197G>A	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156406	0.78114	.	.	ENSG00000108821	ENST00000225964	D	0.93547	-3.24	4.64	4.64	0.57946	.	0.069140	0.56097	D	0.000024	D	0.96858	0.8974	M	0.86268	2.805	0.58432	D	0.999998	D	0.76494	0.999	D	0.85130	0.997	D	0.97707	1.0188	10	0.87932	D	0	.	16.2974	0.82783	0.0:1.0:0.0:0.0	.	1066	P02452	CO1A1_HUMAN	H	1066	ENSP00000225964:R1066H	ENSP00000225964:R1066H	R	-	2	0	COL1A1	45620900	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.027000	0.57239	2.148000	0.66965	0.313000	0.20887	CGT		0.652	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			24	57	0	0	0	1	0	24	57				
WNK3	65267	broad.mit.edu	37	X	54259292	54259292	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chrX:54259292C>T	ENST00000375159.2	-	20	4789	c.4790G>A	c.(4789-4791)cGa>cAa	p.R1597Q	WNK3_ENST00000375169.3_Missense_Mutation_p.R1550Q|WNK3_ENST00000354646.2_Missense_Mutation_p.R1597Q			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1597					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GGGGCGGCTTCGAAGTTTGCT	0.418																																						ENST00000354646.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4789-4791)cGa>cAa		WNK lysine deficient protein kinase 3							126.0	117.0	120.0					X																	54259292		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54259292C>T	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.4790G>A	X.37:g.54259292C>T	ENSP00000364301:p.Arg1597Gln					WNK3_ENST00000375169.3_Missense_Mutation_p.R1550Q|WNK3_ENST00000375159.2_Missense_Mutation_p.R1597Q	p.R1597Q	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN			21	5228	-			1550					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.4790G>A	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	32	5.188772	0.94923	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.74737	-0.82;-0.87;-0.87	5.69	5.69	0.88448	.	0.000000	0.47093	D	0.000254	D	0.85309	0.5667	M	0.69823	2.125	0.52099	D	0.999945	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	D	0.83929	0.0305	10	0.34782	T	0.22	-7.2961	17.4246	0.87522	0.0:1.0:0.0:0.0	.	1550;1597	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	Q	1550;1597;1597	ENSP00000364312:R1550Q;ENSP00000346667:R1597Q;ENSP00000364301:R1597Q	ENSP00000346667:R1597Q	R	-	2	0	WNK3	54276017	1.000000	0.71417	0.957000	0.39632	0.994000	0.84299	6.466000	0.73543	2.383000	0.81215	0.594000	0.82650	CGA		0.418	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		92	150	0	0	0	1	0	92	150				
TMPRSS11B	132724	broad.mit.edu	37	4	69097010	69097010	+	Silent	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr4:69097010C>T	ENST00000332644.5	-	7	758	c.597G>A	c.(595-597)caG>caA	p.Q199Q		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	199	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						GCATGCTGGCCTGCCATGGCC	0.493																																						ENST00000332644.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						c.(595-597)caG>caA		transmembrane protease, serine 11B							78.0	77.0	78.0					4																	69097010		2203	4300	6503	SO:0001819	synonymous_variant	132724				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69097010C>T	BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"""Serine peptidases / Transmembrane"""	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.597G>A	4.37:g.69097010C>T							p.Q199Q	NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN			7	758	-			199			Peptidase S1.		A8K4D9	Silent	SNP	ENST00000332644.5	37	c.597G>A	CCDS3521.1																																																																																				0.493	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502		13	96	0	0	0	1	0	13	96				
PINLYP	390940	broad.mit.edu	37	19	44079106	44079106	+	5'Flank	SNP	G	G	A	rs552435216		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr19:44079106G>A	ENST00000599207.1	+	0	0				L34079.4_ENST00000600242.1_RNA|L34079.2_ENST00000594374.1_Intron|XRCC1_ENST00000543982.1_Intron|XRCC1_ENST00000262887.5_Missense_Mutation_p.R34W	NM_001193621.1	NP_001180550.1	A6NC86	PINLY_HUMAN	phospholipase A2 inhibitor and LY6/PLAUR domain containing							extracellular region (GO:0005576)	phospholipase inhibitor activity (GO:0004859)										TTGGCTGCCCGCCATTTTCGG	0.552													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18409	0.0		0.0	False		,,,				2504	0.0					ENST00000262887.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(100-102)Cgg>Tgg	Other BER factors	X-ray repair complementing defective repair in Chinese hamster cells 1							105.0	85.0	92.0					19																	44079106		2203	4300	6503	SO:0001631	upstream_gene_variant	7515				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding	g.chr19:44079106G>A		CCDS58667.1, CCDS74385.1	19q13.31	2012-07-20			ENSG00000234465	ENSG00000234465			44206	protein-coding gene	gene with protein product							Standard	NM_001193621		Approved		uc021uvg.1	A6NC86	OTTHUMG00000175560		19.37:g.44079106G>A	Exception_encountered					L34079.4_ENST00000600242.1_RNA|XRCC1_ENST00000543982.1_Intron|L34079.2_ENST00000594374.1_Intron	p.R34W			P18887	XRCC1_HUMAN			2	647	-		Prostate(69;0.0153)	34					B7Z457|O95053	Missense_Mutation	SNP	ENST00000599207.1	37	c.100C>T		.	.	.	.	.	.	.	.	.	.	G	21.2	4.120171	0.77323	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000538738	T	0.26373	1.74	3.55	3.55	0.40652	DNA-repair protein Xrcc1, N-terminal (1);Galactose-binding domain-like (1);	0.065974	0.64402	D	0.000015	T	0.36082	0.0954	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.10965	-1.0607	10	0.66056	D	0.02	-21.3525	10.9379	0.47255	0.0:0.0:1.0:0.0	.	34	P18887	XRCC1_HUMAN	W	48;34;34	ENSP00000262887:R34W	ENSP00000262887:R34W	R	-	1	2	XRCC1	48770946	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	1.370000	0.34238	2.300000	0.77407	0.655000	0.94253	CGG		0.552	PINLYP-005	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463346.2	NM_001193621		3	51	0	0	0	1	0	3	51				
HPS1	3257	broad.mit.edu	37	10	100185417	100185417	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr10:100185417C>T	ENST00000325103.6	-	13	1449	c.1216G>A	c.(1216-1218)Gag>Aag	p.E406K	HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Missense_Mutation_p.E406K	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	406					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		AGCTTCTTCTCCAGCATGGAG	0.667									Hermansky-Pudlak syndrome		OREG0020430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000325103.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1216-1218)Gag>Aag		Hermansky-Pudlak syndrome 1							26.0	29.0	28.0					10																	100185417		2203	4300	6503	SO:0001583	missense	3257	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	g.chr10:100185417C>T	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.1216G>A	10.37:g.100185417C>T	ENSP00000326649:p.Glu406Lys		OREG0020430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1349	HPS1_ENST00000361490.4_Missense_Mutation_p.E406K|HPS1_ENST00000467246.1_5'UTR	p.E406K	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)	13	1449	-		Colorectal(252;0.234)	406					A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Missense_Mutation	SNP	ENST00000325103.6	37	c.1216G>A	CCDS7475.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889254	0.91889	.	.	ENSG00000107521	ENST00000325103;ENST00000361490;ENST00000407891;ENST00000359632	T;T;T	0.32272	1.46;1.46;1.46	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.59418	0.2192	M	0.77616	2.38	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.987;0.999;0.999;0.999	T	0.61277	-0.7095	10	0.52906	T	0.07	.	19.1508	0.93487	0.0:1.0:0.0:0.0	.	44;373;406;406	Q658M9;Q92902-2;Q8WXE5;D3DR62	.;.;.;.	K	406;406;373;201	ENSP00000326649:E406K;ENSP00000355310:E406K;ENSP00000352652:E201K	ENSP00000326649:E406K	E	-	1	0	HPS1	100175407	1.000000	0.71417	1.000000	0.80357	0.409000	0.31022	7.392000	0.79840	2.524000	0.85096	0.561000	0.74099	GAG		0.667	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639		4	68	0	0	0	1	0	4	68				
AQP10	89872	broad.mit.edu	37	1	154294528	154294528	+	Silent	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr1:154294528C>T	ENST00000324978.3	+	2	265	c.225C>T	c.(223-225)aaC>aaT	p.N75N	AQP10_ENST00000355197.4_Intron|AQP10_ENST00000484864.1_Silent_p.N75N	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	75					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGGTGGTAACGTCTCAGGTG	0.547																																						ENST00000484864.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(223-225)aaC>aaT		aquaporin 10							64.0	55.0	58.0					1																	154294528		2203	4300	6503	SO:0001819	synonymous_variant	89872				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	g.chr1:154294528C>T	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.225C>T	1.37:g.154294528C>T						AQP10_ENST00000355197.4_Intron|AQP10_ENST00000324978.3_Silent_p.N75N	p.N75N			Q96PS8	AQP10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	261	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		75					Q5VYD3|Q5VYD4|Q8NG70	Silent	SNP	ENST00000324978.3	37	c.225C>T	CCDS1065.1																																																																																				0.547	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429		18	31	0	0	0	1	0	18	31				
NAP1L2	4674	broad.mit.edu	37	X	72433964	72433964	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chrX:72433964G>A	ENST00000373517.3	-	1	720	c.365C>T	c.(364-366)gCg>gTg	p.A122V	NAP1L2_ENST00000536638.1_5'UTR	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	122					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TAAATTGGCCGCTCTAGTTTG	0.373																																						ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(364-366)gCg>gTg		nucleosome assembly protein 1-like 2							124.0	117.0	119.0					X																	72433964		2203	4300	6503	SO:0001583	missense	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433964G>A	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.365C>T	X.37:g.72433964G>A	ENSP00000362616:p.Ala122Val					NAP1L2_ENST00000536638.1_5'UTR	p.A122V	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	720	-	Renal(35;0.156)		122					B2RE61|B4E161|Q8TAN6	Missense_Mutation	SNP	ENST00000373517.3	37	c.365C>T	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	g	6.668	0.491719	0.12702	.	.	ENSG00000186462	ENST00000373517	T	0.40756	1.02	3.31	1.32	0.21799	.	0.224165	0.46758	N	0.000265	T	0.17959	0.0431	N	0.12182	0.205	0.80722	D	1	B	0.11235	0.004	B	0.08055	0.003	T	0.06180	-1.0841	10	0.17369	T	0.5	-2.1775	3.5636	0.07892	0.2349:0.2434:0.5216:0.0	.	122	Q9ULW6	NP1L2_HUMAN	V	122	ENSP00000362616:A122V	ENSP00000362616:A122V	A	-	2	0	NAP1L2	72350689	0.979000	0.34478	0.997000	0.53966	0.992000	0.81027	1.806000	0.38892	0.188000	0.20168	0.600000	0.82982	GCG		0.373	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		90	155	0	0	0	1	0	90	155				
PJA2	9867	broad.mit.edu	37	5	108714431	108714431	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr5:108714431T>C	ENST00000361189.2	-	4	996	c.757A>G	c.(757-759)Agc>Ggc	p.S253G	PJA2_ENST00000361557.3_Missense_Mutation_p.S253G|PJA2_ENST00000511624.1_5'Flank	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	253					long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		ATTTCCTGGCTATTCTGATGG	0.383																																						ENST00000361189.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(757-759)Agc>Ggc		praja ring finger 2, E3 ubiquitin protein ligase							114.0	126.0	122.0					5																	108714431		2202	4300	6502	SO:0001583	missense	9867				long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding	g.chr5:108714431T>C	AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"""RING-type (C3HC4) zinc fingers"""	17481	protein-coding gene	gene with protein product			"""ring finger protein 131"", ""praja ring finger 2"""	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.757A>G	5.37:g.108714431T>C	ENSP00000354775:p.Ser253Gly					PJA2_ENST00000361557.3_Missense_Mutation_p.S253G	p.S253G	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)	4	996	-		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)	253					A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	ENST00000361189.2	37	c.757A>G	CCDS4099.1	.	.	.	.	.	.	.	.	.	.	T	1.729	-0.494737	0.04322	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.05447	3.44;3.44	4.81	-3.39	0.04868	.	0.739340	0.13381	N	0.392139	T	0.02848	0.0085	N	0.11255	0.115	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46762	-0.9168	10	0.13853	T	0.58	4.1562	10.3948	0.44194	0.0:0.1771:0.1018:0.7211	.	253	O43164	PJA2_HUMAN	G	253	ENSP00000354775:S253G;ENSP00000355284:S253G	ENSP00000354775:S253G	S	-	1	0	PJA2	108742330	0.002000	0.14202	0.001000	0.08648	0.369000	0.29798	0.706000	0.25690	-0.674000	0.05253	-1.715000	0.00711	AGC		0.383	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250663.1	NM_014819		87	139	0	0	0	1	0	87	139				
DNMT3A	1788	broad.mit.edu	37	2	25463299	25463299	+	Missense_Mutation	SNP	A	A	G	rs149043640		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr2:25463299A>G	ENST00000264709.3	-	19	2531	c.2194T>C	c.(2194-2196)Ttt>Ctt	p.F732L	DNMT3A_ENST00000402667.1_Missense_Mutation_p.F509L|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Missense_Mutation_p.F732L|DNMT3A_ENST00000380746.4_Missense_Mutation_p.F543L	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	732	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGAACTCAAAGAAGAGCCGG	0.607			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(2194-2196)Ttt>Ctt		DNA (cytosine-5-)-methyltransferase 3 alpha							61.0	61.0	61.0					2																	25463299		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25463299A>G		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2194T>C	2.37:g.25463299A>G	ENSP00000264709:p.Phe732Leu					DNMT3A_ENST00000321117.5_Missense_Mutation_p.F732L|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000380746.4_Missense_Mutation_p.F543L|DNMT3A_ENST00000402667.1_Missense_Mutation_p.F509L	p.F732L	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			19	2531	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		732					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.2194T>C	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	A	32	5.123446	0.94429	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.90331	0.6975	L	0.60957	1.885	0.80722	D	1	D;D	0.71674	0.998;0.993	D;P	0.72338	0.977;0.771	D	0.91322	0.5083	10	0.87932	D	0	-3.1685	14.1959	0.65670	1.0:0.0:0.0:0.0	.	732;543	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	L	543;732;732;509	ENSP00000370122:F543L;ENSP00000324375:F732L;ENSP00000264709:F732L;ENSP00000384237:F509L	ENSP00000264709:F732L	F	-	1	0	DNMT3A	25316803	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.054000	0.61138	0.459000	0.35465	TTT		0.607	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		38	67	0	0	0	1	0	38	67				
XRN2	22803	broad.mit.edu	37	20	21346317	21346317	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr20:21346317G>A	ENST00000377191.3	+	26	2526	c.2431G>A	c.(2431-2433)Gat>Aat	p.D811N	XRN2_ENST00000430571.2_Missense_Mutation_p.D735N|XRN2_ENST00000539513.1_Missense_Mutation_p.D757N	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	811					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TGTGCACCTGGATCAGGCAGC	0.473																																						ENST00000377191.3																			0				endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						c.(2431-2433)Gat>Aat		5'-3' exoribonuclease 2							109.0	113.0	112.0					20																	21346317		2203	4300	6503	SO:0001583	missense	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21346317G>A	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.2431G>A	20.37:g.21346317G>A	ENSP00000366396:p.Asp811Asn					XRN2_ENST00000539513.1_Missense_Mutation_p.D757N|XRN2_ENST00000430571.2_Missense_Mutation_p.D735N	p.D811N	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN			26	2526	+			811					Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	c.2431G>A	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827105	0.71143	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.32753	1.45;1.44;1.44	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.35098	0.0920	L	0.56769	1.78	0.80722	D	1	B	0.23806	0.091	B	0.18263	0.021	T	0.05162	-1.0902	10	0.35671	T	0.21	-22.2309	20.1731	0.98165	0.0:0.0:1.0:0.0	.	811	Q9H0D6	XRN2_HUMAN	N	811;735;757	ENSP00000366396:D811N;ENSP00000413548:D735N;ENSP00000441113:D757N	ENSP00000366396:D811N	D	+	1	0	XRN2	21294317	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.182000	0.77689	2.768000	0.95171	0.655000	0.94253	GAT		0.473	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255		4	191	0	0	0	1	0	4	191				
SLC7A13	157724	broad.mit.edu	37	8	87241960	87241960	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr8:87241960T>C	ENST00000297524.3	-	1	650	c.547A>G	c.(547-549)Ata>Gta	p.I183V	SLC7A13_ENST00000419776.2_Missense_Mutation_p.I183V|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	183						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TTCCCTCTTATCAGGAACACT	0.408																																						ENST00000297524.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						c.(547-549)Ata>Gta		solute carrier family 7 (anionic amino acid transporter), member 13							147.0	131.0	137.0					8																	87241960		2203	4300	6503	SO:0001583	missense	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87241960T>C	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.547A>G	8.37:g.87241960T>C	ENSP00000297524:p.Ile183Val					SLC7A13_ENST00000419776.2_Missense_Mutation_p.I183V|SLC7A13_ENST00000520624.1_Intron	p.I183V	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN			1	650	-			183					Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	ENST00000297524.3	37	c.547A>G	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.719509	0.00092	.	.	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.89939	-2.59;-2.59	4.87	0.475	0.16774	Amino acid permease domain (1);	1.719300	0.03631	N	0.237975	T	0.67230	0.2871	N	0.00788	-1.185	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.14023	0.01;0.002	T	0.63391	-0.6648	10	0.09843	T	0.71	.	4.9453	0.13985	0.0:0.5149:0.1662:0.3189	.	183;183	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	V	183	ENSP00000297524:I183V;ENSP00000410982:I183V	ENSP00000297524:I183V	I	-	1	0	SLC7A13	87311076	0.000000	0.05858	0.015000	0.15790	0.023000	0.10783	-0.566000	0.05922	-0.018000	0.14079	-0.180000	0.13094	ATA		0.408	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		12	221	0	0	0	1	0	12	221				
COL7A1	1294	broad.mit.edu	37	3	48619177	48619177	+	Missense_Mutation	SNP	C	C	T	rs143352280	byFrequency	TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr3:48619177C>T	ENST00000328333.8	-	48	4791	c.4684G>A	c.(4684-4686)Gct>Act	p.A1562T	MIR711_ENST00000390201.1_RNA|COL7A1_ENST00000454817.1_Missense_Mutation_p.A1562T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1562	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGGGCCCAGCGGGCCCCACA	0.582																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(4684-4686)Gct>Act		collagen, type VII, alpha 1		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	125.0	135.0	132.0		4684	-8.5	0.0	3	dbSNP_134	132	2,8598	2.2+/-6.3	0,2,4298	yes	missense	COL7A1	NM_000094.3	58	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	1562/2945	48619177	3,13003	2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48619177C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.4684G>A	3.37:g.48619177C>T	ENSP00000332371:p.Ala1562Thr					COL7A1_ENST00000454817.1_Missense_Mutation_p.A1562T	p.A1562T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	48	4791	-			1562			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.4684G>A	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232984	0.39498	2.27E-4	2.33E-4	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.93604	-3.25;-3.25	5.11	-8.46	0.00942	.	0.442251	0.18579	N	0.137088	T	0.76997	0.4066	N	0.13198	0.31	0.09310	N	1	P	0.37176	0.586	B	0.25291	0.059	T	0.74231	-0.3732	10	0.15952	T	0.53	.	9.6169	0.39696	0.0:0.3908:0.3852:0.224	.	1562	Q02388	CO7A1_HUMAN	T	1562	ENSP00000332371:A1562T;ENSP00000412569:A1562T	ENSP00000332371:A1562T	A	-	1	0	COL7A1	48594181	0.000000	0.05858	0.001000	0.08648	0.723000	0.41478	-2.865000	0.00724	-1.497000	0.01826	-0.302000	0.09304	GCT		0.582	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		5	283	0	0	0	1	0	5	283				
OSBPL8	114882	broad.mit.edu	37	12	76881291	76881291	+	Splice_Site	SNP	G	G	T	rs142756436		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr12:76881291G>T	ENST00000261183.3	-	2	520	c.41C>A	c.(40-42)tCg>tAg	p.S14*	OSBPL8_ENST00000393250.4_5'UTR|OSBPL8_ENST00000552178.1_5'Flank|OSBPL8_ENST00000393249.2_5'UTR	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	14					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						ACTACTCACCGAAGTTCGATC	0.353																																						ENST00000261183.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						c.e2+1		oxysterol binding protein-like 8							96.0	80.0	85.0					12																	76881291		2203	4300	6503	SO:0001630	splice_region_variant	114882				lipid transport		lipid binding	g.chr12:76881291G>T	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.42+1C>A	12.37:g.76881291G>T						OSBPL8_ENST00000393250.4_5'UTR|OSBPL8_ENST00000393249.2_5'UTR	p.S14_splice	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN			2	520	-			14					A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Splice_Site	SNP	ENST00000261183.3	37	c.42_splice	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	G	32	5.184080	0.94885	.	.	ENSG00000091039	ENST00000261183;ENST00000446075;ENST00000438913;ENST00000547540;ENST00000550628;ENST00000549646;ENST00000551927;ENST00000547544	.	.	.	5.4	-1.64	0.08318	.	2.511330	0.01361	N	0.012234	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	5.8136	5.2735	0.15638	0.526:0.157:0.317:0.0	.	.	.	.	X	14	.	ENSP00000261183:S14X	S	-	2	0	OSBPL8	75405422	0.978000	0.34361	0.997000	0.53966	0.791000	0.44710	-0.153000	0.10144	0.011000	0.14865	-0.759000	0.03464	TCG		0.353	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841	Nonsense_Mutation	4	79	1	0	0.000602214	1	0.000610244	4	79				
TDRD3	81550	broad.mit.edu	37	13	61083925	61083925	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr13:61083925C>T	ENST00000196169.3	+	9	1396	c.608C>T	c.(607-609)aCg>aTg	p.T203M	TDRD3_ENST00000377881.2_Missense_Mutation_p.T203M|TDRD3_ENST00000377894.2_Missense_Mutation_p.T203M|TDRD3_ENST00000535286.1_Missense_Mutation_p.T296M	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	203	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.T203fs*21(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AAGCACATAACGGAAATGGGC	0.418																																					Colon(36;164 906 35820 50723)	ENST00000196169.3																			1	Deletion - Frameshift(1)	p.T203fs*21(1)	breast(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(607-609)aCg>aTg		tudor domain containing 3							147.0	147.0	147.0					13																	61083925		2203	4300	6503	SO:0001583	missense	81550				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	g.chr13:61083925C>T	AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.608C>T	13.37:g.61083925C>T	ENSP00000196169:p.Thr203Met					TDRD3_ENST00000377894.2_Missense_Mutation_p.T203M|TDRD3_ENST00000377881.2_Missense_Mutation_p.T203M|TDRD3_ENST00000535286.1_Missense_Mutation_p.T296M	p.T203M	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN		GBM - Glioblastoma multiforme(99;0.000291)	9	1396	+		Prostate(109;0.173)|Breast(118;0.174)	203			UBA.		B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	ENST00000196169.3	37	c.608C>T	CCDS9441.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307335	0.40795	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.72	4.87	0.63330	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	0.045500	0.85682	D	0.000000	T	0.21062	0.0507	N	0.02916	-0.46	0.54753	D	0.999983	D;D;P	0.89917	0.96;1.0;0.934	B;D;B	0.79108	0.346;0.992;0.398	T	0.32295	-0.9912	10	0.26408	T	0.33	-19.9998	14.1363	0.65289	0.0:0.9284:0.0:0.0716	.	296;202;203	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	M	203;203;203;296	ENSP00000196169:T203M;ENSP00000367113:T203M;ENSP00000367126:T203M;ENSP00000440190:T296M	ENSP00000196169:T203M	T	+	2	0	TDRD3	59981926	1.000000	0.71417	0.990000	0.47175	0.900000	0.52787	4.444000	0.60001	2.684000	0.91462	0.563000	0.77884	ACG		0.418	TDRD3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045175.2	NM_030794		16	315	0	0	0	1	0	16	315				
MYH1	4619	broad.mit.edu	37	17	10401968	10401968	+	Missense_Mutation	SNP	G	G	A	rs142884848	byFrequency	TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr17:10401968G>A	ENST00000226207.5	-	30	4250	c.4156C>T	c.(4156-4158)Cgc>Tgc	p.R1386C	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1386					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCCTCTGTGCGCTGGATGGCA	0.483													G|||	2	0.000399361	0.0	0.0014	5008	,	,		18116	0.0		0.001	False		,,,				2504	0.0					ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(4156-4158)Cgc>Tgc		myosin, heavy chain 1, skeletal muscle, adult		G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	140.0	126.0	131.0		4156	5.4	1.0	17	dbSNP_134	131	2,8598	2.2+/-6.3	0,2,4298	yes	missense	MYH1	NM_005963.3	180	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	benign	1386/1940	10401968	4,13002	2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10401968G>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4156C>T	17.37:g.10401968G>A	ENSP00000226207:p.Arg1386Cys					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.R1386C	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			30	4250	-			1386					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.4156C>T	CCDS11155.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.25	3.069033	0.55539	4.54E-4	2.33E-4	ENSG00000109061	ENST00000226207;ENST00000379814	T	0.81078	-1.45	5.41	5.41	0.78517	Myosin tail (1);	0.000000	0.44097	U	0.000485	D	0.91016	0.7174	H	0.95004	3.61	0.80722	D	1	P	0.51057	0.941	P	0.53760	0.734	D	0.93191	0.6583	10	0.87932	D	0	.	19.5475	0.95305	0.0:0.0:1.0:0.0	.	1386	P12882	MYH1_HUMAN	C	1386;475	ENSP00000226207:R1386C	ENSP00000226207:R1386C	R	-	1	0	MYH1	10342693	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.942000	0.40243	2.696000	0.92011	0.655000	0.94253	CGC		0.483	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		117	145	0	0	0	1	0	117	145				
ABCB7	22	broad.mit.edu	37	X	74290346	74290346	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chrX:74290346C>A	ENST00000373394.3	-	10	1226	c.1219G>T	c.(1219-1221)Gtt>Ttt	p.V407F	ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000339447.4_Missense_Mutation_p.V367F|ABCB7_ENST00000253577.3_Missense_Mutation_p.V408F			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	407	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						AGATCTCCAACAGTAAGGGTA	0.358																																						ENST00000253577.3																			0				breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						c.(1222-1224)Gtt>Ttt		ATP-binding cassette, sub-family B (MDR/TAP), member 7							106.0	101.0	103.0					X																	74290346		2203	4300	6503	SO:0001583	missense	22				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	g.chrX:74290346C>A	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.1219G>T	X.37:g.74290346C>A	ENSP00000362492:p.Val407Phe					ABCB7_ENST00000373394.3_Missense_Mutation_p.V407F|ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000339447.4_Missense_Mutation_p.V367F	p.V408F	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN			10	1246	-			407			ABC transmembrane type-1.		G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	ENST00000373394.3	37	c.1222G>T		.	.	.	.	.	.	.	.	.	.	C	18.97	3.735792	0.69189	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949	D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69	5.4	5.4	0.78164	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.112693	0.64402	D	0.000012	D	0.95526	0.8546	M	0.89840	3.065	0.58432	D	0.999999	P;D;D;P;D	0.71674	0.725;0.99;0.992;0.767;0.998	B;D;D;P;D	0.74348	0.426;0.962;0.978;0.562;0.983	D	0.95894	0.8909	10	0.87932	D	0	-1.7655	10.759	0.46253	0.0:0.9115:0.0:0.0885	.	381;367;408;407;408	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	F	381;408;367;407;381	ENSP00000253577:V408F;ENSP00000343849:V367F;ENSP00000362492:V407F;ENSP00000436586:V381F	ENSP00000253577:V408F	V	-	1	0	ABCB7	74207071	1.000000	0.71417	0.982000	0.44146	0.965000	0.64279	4.657000	0.61490	2.257000	0.74773	0.600000	0.82982	GTT		0.358	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		13	273	1	0	0.00185496	1	0.00185496	13	273				
CHST8	64377	broad.mit.edu	37	19	34180275	34180275	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr19:34180275G>T	ENST00000262622.4	+	2	866	c.108G>T	c.(106-108)gaG>gaT	p.E36D	CHST8_ENST00000438847.3_Missense_Mutation_p.E36D|CHST8_ENST00000434302.1_Missense_Mutation_p.E36D|CHST8_ENST00000604556.1_3'UTR	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	36					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					ACCCTACGGAGCTCGCCCCCC	0.637																																						ENST00000262622.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27						c.(106-108)gaG>gaT		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8							83.0	84.0	84.0					19																	34180275		2203	4300	6503	SO:0001583	missense	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34180275G>T	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.108G>T	19.37:g.34180275G>T	ENSP00000262622:p.Glu36Asp					CHST8_ENST00000434302.1_Missense_Mutation_p.E36D|CHST8_ENST00000438847.2_Missense_Mutation_p.E36D|CHST8_ENST00000604556.1_Missense_Mutation_p.E36D	p.E36D	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN			2	866	+	Esophageal squamous(110;0.162)		36					Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	37	c.108G>T	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	g	11.77	1.738514	0.30774	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.73789	-0.78;-0.78;-0.78	5.39	1.77	0.24775	.	0.248894	0.28600	N	0.014774	T	0.54062	0.1835	L	0.27053	0.805	0.28584	N	0.90998	B	0.17667	0.023	B	0.14578	0.011	T	0.43212	-0.9405	10	0.44086	T	0.13	-33.082	3.0094	0.06039	0.3321:0.2235:0.4445:0.0	.	36	Q9H2A9	CHST8_HUMAN	D	36	ENSP00000392604:E36D;ENSP00000393879:E36D;ENSP00000262622:E36D	ENSP00000262622:E36D	E	+	3	2	CHST8	38872115	1.000000	0.71417	0.997000	0.53966	0.298000	0.27526	1.550000	0.36223	1.275000	0.44379	-0.185000	0.12909	GAG		0.637	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		8	121	1	0	1.26484e-09	1	1.33511e-09	8	121				
PAX2	5076	broad.mit.edu	37	10	102509607	102509607	+	Missense_Mutation	SNP	C	C	T	rs76675173		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr10:102509607C>T	ENST00000428433.1	+	2	698	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	PAX2_ENST00000370296.2_Missense_Mutation_p.R50W|PAX2_ENST00000556085.1_Missense_Mutation_p.R49W|PAX2_ENST00000355243.3_Missense_Mutation_p.R50W|PAX2_ENST00000361791.3_Missense_Mutation_p.R50W|PAX2_ENST00000553492.1_Intron	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	50	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|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)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CCAGGGTGTGCGGCCCTGTGA	0.687																																						ENST00000370296.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(148-150)Cgg>Tgg		paired box 2							26.0	29.0	28.0					10																	102509607		2199	4295	6494	SO:0001583	missense	5076				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	g.chr10:102509607C>T		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.148C>T	10.37:g.102509607C>T	ENSP00000396259:p.Arg50Trp					PAX2_ENST00000428433.1_Missense_Mutation_p.R50W|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000556085.1_Missense_Mutation_p.R49W|PAX2_ENST00000355243.3_Missense_Mutation_p.R50W|PAX2_ENST00000361791.3_Missense_Mutation_p.R50W	p.R50W			Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	2	698	+		Colorectal(252;0.234)	50			Paired.		Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Missense_Mutation	SNP	ENST00000428433.1	37	c.148C>T	CCDS53569.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398705	0.83120	.	.	ENSG00000075891	ENST00000370296;ENST00000428433;ENST00000361791;ENST00000355243;ENST00000556085;ENST00000427256;ENST00000554172	D;D;D;D;D;D;D	0.99680	-6.38;-6.38;-6.38;-6.38;-6.38;-6.38;-6.38	6.03	4.14	0.48551	Paired box protein, N-terminal (5);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	H	0.97240	3.965	0.80722	D	1	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	0.999;1.0;0.998;1.0;1.0;0.999;1.0	D	0.97000	0.9728	10	0.87932	D	0	.	14.2771	0.66187	0.39:0.61:0.0:0.0	.	49;50;50;54;50;50;54	G3V5U4;Q02962-2;Q02962-3;Q6YFJ8;Q02962;Q02962-4;G3V5S4	.;.;.;.;PAX2_HUMAN;.;.	W	50;50;50;50;49;50;54	ENSP00000359319:R50W;ENSP00000396259:R50W;ENSP00000355069:R50W;ENSP00000347385:R50W;ENSP00000452527:R49W;ENSP00000398652:R50W;ENSP00000452489:R54W	ENSP00000347385:R50W	R	+	1	2	PAX2	102499597	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.438000	0.35002	0.829000	0.34733	0.655000	0.94253	CGG		0.687	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				4	109	0	0	0	1	0	4	109				
CCSER1	401145	broad.mit.edu	37	4	91230393	91230393	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr4:91230393T>C	ENST00000509176.1	+	2	1246	c.958T>C	c.(958-960)Tct>Cct	p.S320P	CCSER1_ENST00000333691.8_Missense_Mutation_p.S320P|CCSER1_ENST00000432775.2_Missense_Mutation_p.S320P	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	320																	TGCAATTATGTCTCCTGGGAA	0.418																																						ENST00000509176.1																			0											c.(958-960)Tct>Cct		coiled-coil serine-rich protein 1							134.0	127.0	129.0					4																	91230393		1887	4118	6005	SO:0001583	missense	401145							g.chr4:91230393T>C		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.958T>C	4.37:g.91230393T>C	ENSP00000425040:p.Ser320Pro					CCSER1_ENST00000432775.2_Missense_Mutation_p.S320P|CCSER1_ENST00000333691.8_Missense_Mutation_p.S320P	p.S320P	NM_001145065.1	NP_001138537.1					2	1246	+								Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	c.958T>C	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	T	12.72	2.021720	0.35701	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.53640	1.14;0.61;1.14	4.61	2.05	0.26809	.	0.579894	0.18047	N	0.153423	T	0.34774	0.0909	L	0.43152	1.355	0.28121	N	0.930608	P;B;B	0.36412	0.552;0.004;0.002	B;B;B	0.34779	0.189;0.01;0.011	T	0.28554	-1.0040	10	0.72032	D	0.01	-3.2009	5.225	0.15389	0.0:0.157:0.152:0.691	.	320;320;320	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	P	320	ENSP00000425040:S320P;ENSP00000389283:S320P;ENSP00000329482:S320P	ENSP00000329482:S320P	S	+	1	0	FAM190A	91449416	0.980000	0.34600	0.909000	0.35828	0.464000	0.32679	1.082000	0.30803	0.323000	0.23307	-0.256000	0.11100	TCT		0.418	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		6	155	0	0	0	1	0	6	155				
LRRC45	201255	broad.mit.edu	37	17	79988540	79988540	+	Silent	SNP	T	T	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr17:79988540T>C	ENST00000306688.3	+	17	2214	c.1872T>C	c.(1870-1872)tcT>tcC	p.S624S	RAC3_ENST00000306897.4_5'Flank	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	624						centrosome (GO:0005813)				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			AGAACGCGTCTCTCCGGGAGA	0.701																																						ENST00000306688.3																			0				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(1870-1872)tcT>tcC		leucine rich repeat containing 45							9.0	12.0	11.0					17																	79988540		2137	4220	6357	SO:0001819	synonymous_variant	201255					centrosome		g.chr17:79988540T>C	BC014109	CCDS11797.1	17q25.3	2005-08-09				ENSG00000169683			28302	protein-coding gene	gene with protein product						12477932	Standard	NM_144999		Approved	MGC20806	uc002kde.3	Q96CN5		ENST00000306688.3:c.1872T>C	17.37:g.79988540T>C							p.S624S	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		17	2214	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		624						Silent	SNP	ENST00000306688.3	37	c.1872T>C	CCDS11797.1																																																																																				0.701	LRRC45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442058.1	NM_144999		9	12	0	0	0	1	0	9	12				
IL34	146433	broad.mit.edu	37	16	70693984	70693984	+	Missense_Mutation	SNP	C	C	T	rs201277640		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr16:70693984C>T	ENST00000288098.2	+	6	1006	c.623C>T	c.(622-624)gCg>gTg	p.A208V	IL34_ENST00000429149.2_Missense_Mutation_p.A208V|FLJ00418_ENST00000597002.1_5'Flank|IL34_ENST00000566361.1_Missense_Mutation_p.A183V	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	208					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)	p.A208V(1)		breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						TTGCAGTATGCGGCCACCCAG	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		14065	0.0		0.001	False		,,,				2504	0.0					ENST00000429149.2																			1	Substitution - Missense(1)	p.A208V(1)	urinary_tract(1)	breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						c.(622-624)gCg>gTg		interleukin 34		C	VAL/ALA,VAL/ALA,VAL/ALA	1,4395	2.1+/-5.4	0,1,2197	96.0	105.0	102.0		620,623,623	-3.1	0.0	16		102	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	IL34	NM_001172771.1,NM_001172772.1,NM_152456.2	64,64,64	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign	207/242,208/243,208/243	70693984	2,12994	2198	4300	6498	SO:0001583	missense	146433				positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding	g.chr16:70693984C>T	BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"""Interleukins and interleukin receptors"""	28529	protein-coding gene	gene with protein product		612081	"""chromosome 16 open reading frame 77"""	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.623C>T	16.37:g.70693984C>T	ENSP00000288098:p.Ala208Val					IL34_ENST00000288098.2_Missense_Mutation_p.A208V|IL34_ENST00000566361.1_Missense_Mutation_p.A183V	p.A208V	NM_001172771.1|NM_152456.2	NP_001166242.1|NP_689669.2	Q6ZMJ4	IL34_HUMAN			7	1178	+			208					B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Missense_Mutation	SNP	ENST00000288098.2	37	c.623C>T	CCDS10895.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	1.250	-0.618797	0.03663	2.27E-4	1.16E-4	ENSG00000157368	ENST00000429149;ENST00000288098	T;T	0.34667	1.35;1.35	4.69	-3.08	0.05347	.	2.218580	0.03059	N	0.155676	T	0.10294	0.0252	N	0.01352	-0.895	0.09310	N	1	B;B	0.17465	0.022;0.022	B;B	0.08055	0.003;0.003	T	0.24261	-1.0165	10	0.05436	T	0.98	-0.0424	4.1458	0.10215	0.4149:0.3737:0.0:0.2114	.	207;208	Q6ZMJ4-2;Q6ZMJ4	.;IL34_HUMAN	V	208	ENSP00000397863:A208V;ENSP00000288098:A208V	ENSP00000288098:A208V	A	+	2	0	IL34	69251485	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.807000	0.01734	-0.832000	0.04251	-1.552000	0.00895	GCG		0.647	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268971.3	NM_152456		5	329	0	0	0	1	0	5	329				
CIC	23152	broad.mit.edu	37	19	42791799	42791799	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr19:42791799A>C	ENST00000575354.2	+	5	725	c.685A>C	c.(685-687)Acc>Ccc	p.T229P	CIC_ENST00000160740.3_Missense_Mutation_p.T229P|CIC_ENST00000572681.2_Missense_Mutation_p.T1138P	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	229					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGACAACCGGACCGTCAGCAA	0.617			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3412-3414)Acc>Ccc		capicua transcriptional repressor							82.0	75.0	78.0					19																	42791799		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791799A>C	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.685A>C	19.37:g.42791799A>C	ENSP00000458663:p.Thr229Pro					CIC_ENST00000160740.3_Missense_Mutation_p.T229P|CIC_ENST00000575354.2_Missense_Mutation_p.T229P	p.T1138P			Q96RK0	CIC_HUMAN			6	3480	+		Prostate(69;0.00682)	229			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3412A>C	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	A	16.28	3.078792	0.55753	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.76169	0.3950	M	0.72353	2.195	0.58432	D	0.999999	D	0.76494	0.999	D	0.87578	0.998	T	0.78996	-0.1983	8	0.87932	D	0	-14.1814	11.626	0.51145	1.0:0.0:0.0:0.0	.	229	Q96RK0	CIC_HUMAN	P	229	.	ENSP00000160740:T229P	T	+	1	0	CIC	47483639	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.773000	0.68898	1.853000	0.53794	0.454000	0.30748	ACC		0.617	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			45	18	0	0	0	1	0	45	18				
OR10A7	121364	broad.mit.edu	37	12	55615263	55615263	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr12:55615263G>C	ENST00000326258.1	+	1	455	c.455G>C	c.(454-456)gGt>gCt	p.G152A		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TGGATGTCCGGTGTTCCTGTG	0.493																																						ENST00000326258.1																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(454-456)gGt>gCt		olfactory receptor, family 10, subfamily A, member 7							158.0	134.0	142.0					12																	55615263		2203	4300	6503	SO:0001583	missense	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615263G>C	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.455G>C	12.37:g.55615263G>C	ENSP00000326718:p.Gly152Ala						p.G152A	NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN			1	455	+			152					Q6IFD5|Q96R19	Missense_Mutation	SNP	ENST00000326258.1	37	c.455G>C	CCDS31815.1	.	.	.	.	.	.	.	.	.	.	g	14.09	2.431604	0.43122	.	.	ENSG00000179919	ENST00000326258	T	0.35421	1.31	3.25	2.33	0.28932	GPCR, rhodopsin-like superfamily (1);	0.164687	0.27936	N	0.017241	T	0.51227	0.1662	M	0.67953	2.075	0.09310	N	0.999999	D	0.56035	0.974	P	0.60068	0.868	T	0.43589	-0.9382	10	0.59425	D	0.04	.	11.9078	0.52723	0.0:0.3362:0.6638:0.0	.	152	Q8NGE5	O10A7_HUMAN	A	152	ENSP00000326718:G152A	ENSP00000326718:G152A	G	+	2	0	OR10A7	53901530	0.789000	0.28775	0.995000	0.50966	0.900000	0.52787	1.817000	0.39002	0.700000	0.31782	0.637000	0.83480	GGT		0.493	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			6	173	0	0	0	1	0	6	173				
PCDHA3	56145	broad.mit.edu	37	5	140182636	140182636	+	Silent	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr5:140182636G>A	ENST00000522353.2	+	1	1854	c.1854G>A	c.(1852-1854)gcG>gcA	p.A618A	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.A618A|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	618	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGCGGTGCGCGCATCCCGT	0.672																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(1852-1854)gcG>gcA									76.0	76.0	76.0					5																	140182636		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140182636G>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1854G>A	5.37:g.140182636G>A						PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.A618A|PCDHA2_ENST00000520672.2_Intron	p.A618A	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1854	+								O75286	Silent	SNP	ENST00000522353.2	37	c.1854G>A	CCDS54915.1																																																																																				0.672	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		88	91	0	0	0	1	0	88	91				
SMG1P7	100506060	broad.mit.edu	37	16	70253871	70253871	+	RNA	SNP	A	A	G			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr16:70253871A>G	ENST00000581050.1	-	0	1619					NR_033959.1																						GTAAAGCTTCACCGAAGAGTG	0.388																																						ENST00000581050.1																			0																																																			0							g.chr16:70253871A>G																													16.37:g.70253871A>G								NR_033959.1						0	1619	-									RNA	SNP	ENST00000581050.1	37																																																																																						0.388	RP11-296I10.6-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000441629.1			3	36	0	0	0	1	0	3	36				
SEMA6B	10501	broad.mit.edu	37	19	4550875	4550875	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr19:4550875G>A	ENST00000586582.1	-	11	1367	c.1057C>T	c.(1057-1059)Cga>Tga	p.R353*	SEMA6B_ENST00000301293.3_Nonsense_Mutation_p.R353*|SEMA6B_ENST00000586965.1_Nonsense_Mutation_p.R353*	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	353	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCTGCTCTCGGAAGCGGCCT	0.627																																						ENST00000586582.1																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1057-1059)Cga>Tga		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B							56.0	59.0	58.0					19																	4550875		2203	4300	6503	SO:0001587	stop_gained	10501				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr19:4550875G>A	AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"""Semaphorins"""	10739	protein-coding gene	gene with protein product	"""Sema VIb"", ""semaphorin Z"", ""semaphorin VIB"""	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.1057C>T	19.37:g.4550875G>A	ENSP00000467290:p.Arg353*					SEMA6B_ENST00000301293.3_Nonsense_Mutation_p.R353*|SEMA6B_ENST00000586965.1_Nonsense_Mutation_p.R353*	p.R353*	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1367	-		Hepatocellular(1079;0.137)	353			Sema.		A5PKU4|F6IB19|Q9NRK9	Nonsense_Mutation	SNP	ENST00000586582.1	37	c.1057C>T	CCDS12131.1	.	.	.	.	.	.	.	.	.	.	.	37	6.555384	0.97658	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	.	.	.	3.61	3.61	0.41365	.	0.126644	0.49916	U	0.000130	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	9.9052	0.41372	0.0:0.0:0.7957:0.2043	.	.	.	.	X	353	.	ENSP00000301292:R353X	R	-	1	2	SEMA6B	4501875	0.982000	0.34865	0.998000	0.56505	0.969000	0.65631	2.587000	0.46128	2.039000	0.60335	0.478000	0.44815	CGA		0.627	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108		7	145	0	0	0	1	0	7	145				
SYT10	341359	broad.mit.edu	37	12	33560040	33560040	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr12:33560040T>C	ENST00000228567.3	-	3	1057	c.761A>G	c.(760-762)aAa>aGa	p.K254R	SYT10_ENST00000535526.1_Missense_Mutation_p.K73R|SYT10_ENST00000567656.1_5'Flank|RP11-438D14.2_ENST00000561632.1_lincRNA	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	254	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ATCTAAAGCTTTGATAATTTT	0.378																																						ENST00000228567.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42						c.(760-762)aAa>aGa		synaptotagmin X							57.0	55.0	56.0					12																	33560040		2203	4300	6503	SO:0001583	missense	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33560040T>C	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.761A>G	12.37:g.33560040T>C	ENSP00000228567:p.Lys254Arg					SYT10_ENST00000535526.1_Missense_Mutation_p.K73R	p.K254R	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN			3	1057	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		254			C2 1.		Q495U2	Missense_Mutation	SNP	ENST00000228567.3	37	c.761A>G	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	T	19.91	3.913811	0.72983	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	T;T	0.69175	-0.38;-0.38	4.94	4.94	0.65067	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.000000	0.44097	U	0.000485	T	0.59115	0.2170	N	0.22421	0.69	0.58432	D	0.999994	B	0.33212	0.402	B	0.41691	0.364	T	0.59107	-0.7516	10	0.33940	T	0.23	.	14.4793	0.67570	0.0:0.0:0.0:1.0	.	254	Q6XYQ8	SYT10_HUMAN	R	254;73	ENSP00000228567:K254R;ENSP00000438691:K73R	ENSP00000228567:K254R	K	-	2	0	SYT10	33451307	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	4.874000	0.63064	2.153000	0.67306	0.460000	0.39030	AAA		0.378	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		49	72	0	0	0	1	0	49	72				
KCNQ3	3786	broad.mit.edu	37	8	133141584	133141584	+	Silent	SNP	G	G	A			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr8:133141584G>A	ENST00000388996.4	-	15	2964	c.2544C>T	c.(2542-2544)agC>agT	p.S848S	KCNQ3_ENST00000521134.1_Silent_p.S728S|KCNQ3_ENST00000519445.1_Silent_p.S836S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	848					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GCATGGAGCCGCTGGGCGTGA	0.582																																						ENST00000388996.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(2542-2544)agC>agT		potassium voltage-gated channel, KQT-like subfamily, member 3							76.0	64.0	68.0					8																	133141584		2203	4300	6503	SO:0001819	synonymous_variant	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133141584G>A	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.2544C>T	8.37:g.133141584G>A						KCNQ3_ENST00000519445.1_Silent_p.S836S|KCNQ3_ENST00000521134.1_Silent_p.S728S	p.S848S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		15	2964	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		848					A2VCT8|B4DJY4|E7EQ89	Silent	SNP	ENST00000388996.4	37	c.2544C>T	CCDS34943.1																																																																																				0.582	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		4	99	0	0	0	1	0	4	99				
MTMR1	8776	broad.mit.edu	37	X	149924318	149924318	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chrX:149924318A>G	ENST00000370390.3	+	14	1971	c.1814A>G	c.(1813-1815)aAt>aGt	p.N605S	MTMR1_ENST00000544228.1_Missense_Mutation_p.N605S|MTMR1_ENST00000541925.1_Missense_Mutation_p.N511S|MTMR1_ENST00000445323.2_Missense_Mutation_p.N613S|MTMR1_ENST00000538506.1_3'UTR	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	605					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GTACGATGGAATCCACGGATG	0.343																																						ENST00000445323.2																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23						c.(1837-1839)aAt>aGt		myotubularin related protein 1							153.0	135.0	141.0					X																	149924318		2203	4300	6503	SO:0001583	missense	8776					plasma membrane	protein tyrosine phosphatase activity	g.chrX:149924318A>G	U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.1814A>G	X.37:g.149924318A>G	ENSP00000359417:p.Asn605Ser					MTMR1_ENST00000370390.3_Missense_Mutation_p.N605S|MTMR1_ENST00000541925.1_Missense_Mutation_p.N511S|MTMR1_ENST00000544228.1_Missense_Mutation_p.N605S|MTMR1_ENST00000538506.1_3'UTR	p.N613S			Q13613	MTMR1_HUMAN			15	1959	+	Acute lymphoblastic leukemia(192;6.56e-05)		605					A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	ENST00000370390.3	37	c.1838A>G	CCDS14695.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.971388	0.53614	.	.	ENSG00000063601	ENST00000541925;ENST00000370390;ENST00000445323;ENST00000544228	D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61	5.64	5.64	0.86602	.	0.089331	0.85682	D	0.000000	D	0.93226	0.7842	M	0.73753	2.245	0.80722	D	1	D;B	0.76494	0.999;0.056	P;B	0.62184	0.899;0.016	D	0.93506	0.6849	10	0.54805	T	0.06	.	14.812	0.70003	1.0:0.0:0.0:0.0	.	605;613	Q13613;F8WA39	MTMR1_HUMAN;.	S	511;605;613;605	ENSP00000441879:N511S;ENSP00000359417:N605S;ENSP00000414178:N613S;ENSP00000440534:N605S	ENSP00000359417:N605S	N	+	2	0	MTMR1	149674976	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	8.962000	0.93254	1.880000	0.54463	0.486000	0.48141	AAT		0.343	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789		79	119	0	0	0	1	0	79	119				
ARID1A	8289	broad.mit.edu	37	1	27058039	27058040	+	Frame_Shift_Del	DEL	CA	CA	-	rs549610261		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr1:27058039_27058040delCA	ENST00000324856.7	+	3	2118_2119	c.1747_1748delCA	c.(1747-1749)cagfs	p.Q583fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.Q583fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.Q200fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	583					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCCTCAGCCCCAGTCTCAGCAG	0.609			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(1747-1749)gfs		AT rich interactive domain 1A (SWI-like)																																				SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27058039_27058040delCA	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1747_1748delCA	1.37:g.27058039_27058040delCA	ENSP00000320485:p.Gln583fs					ARID1A_ENST00000374152.2_Frame_Shift_Del_p.Q200fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.Q583fs	p.Q583fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	3	2118_2119	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	583					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	c.1747_1748delCA	CCDS285.1																																																																																				0.609	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		23	231						23	231	---	---	---	---
PODN	127435	broad.mit.edu	37	1	53535555	53535557	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr1:53535555_53535557delCTG	ENST00000312553.5	+	2	179_181	c.172_174delCTG	c.(172-174)ctgdel	p.L61del	PODN_ENST00000371500.3_In_Frame_Del_p.L42del|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_In_Frame_Del_p.L61del	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	13	LRRNT.				negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						gctgctgctcctgctgctgctgc	0.685																																						ENST00000371500.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(115-117)del		podocan			,,,	49,3955		2,45,1955					,,,	-3.2	0.0			8	115,7719		4,107,3806	no	coding,coding,coding,coding	PODN	NM_153703.4,NM_001199082.1,NM_001199081.1,NM_001199080.1	,,,	6,152,5761	A1A1,A1R,RR		1.468,1.2238,1.3854	,,,	,,,		164,11674				SO:0001651	inframe_deletion	127435				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	g.chr1:53535555_53535557delCTG	AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.172_174delCTG	1.37:g.53535564_53535566delCTG	ENSP00000308315:p.Leu61del					PODN_ENST00000312553.5_In_Frame_Del_p.L61del|PODN_ENST00000395871.2_In_Frame_Del_p.L61del	p.L42del	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN			4	456_458	+			13					B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	In_Frame_Del	DEL	ENST00000312553.5	37	c.115_117delCTG	CCDS573.1																																																																																				0.685	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		2	4						2	4	---	---	---	---
ZNRF2P2	100271874	broad.mit.edu	37	7	29699825	29699826	+	RNA	DEL	TT	TT	-	rs57470450		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr7:29699825_29699826delTT	ENST00000426767.1	-	0	366					NR_024278.1				zinc and ring finger 2 pseudogene 2																		ATTATTGACCTTTTTTTTTTCA	0.252																																						ENST00000426767.1																			0																																																			0							g.chr7:29699825_29699826delTT			7p14.3	2011-08-22			ENSG00000239968	ENSG00000225264			42793	pseudogene	pseudogene							Standard	NR_027347		Approved				OTTHUMG00000152750		7.37:g.29699833_29699834delTT								NR_024278.1						0	366	-									RNA	DEL	ENST00000426767.1	37																																																																																						0.252	ZNRF2P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000327679.1	NR_027347		5	5						5	5	---	---	---	---
LOC101927575	101927575	broad.mit.edu	37	9	86693417	86693417	+	lincRNA	DEL	A	A	-	rs34077830|rs570183673	byFrequency	TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr9:86693417delA	ENST00000423515.2	+	0	823																											aataaaaaTTAAAAAAAAAAA	0.413																																						ENST00000423515.2																			0																																																			0							g.chr9:86693417delA																													9.37:g.86693417delA														0	823	+									RNA	DEL	ENST00000423515.2	37																																																																																						0.413	RP11-158D2.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000052872.2			3	6						3	6	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)ctgdel	p.L221del	ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del			O75129	ASTN2_HUMAN	astrotactin 2	221					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(661-663)del		astrotactin 2																																				SO:0001651	inframe_deletion	23245					integral to membrane		g.chr9:119976989_119976991delCAG	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.661_663delCTG	9.37:g.119976998_119977000delCAG	ENSP00000314038:p.Leu221del					ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del	p.L221del			O75129	ASTN2_HUMAN			3	761_763	-			221					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	In_Frame_Del	DEL	ENST00000313400.4	37	c.661_663delCTG																																																																																					0.601	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		7	105						7	105	---	---	---	---
DDX47	51202	broad.mit.edu	37	12	12982412	12982414	+	In_Frame_Del	DEL	ATG	ATG	-	rs370405455		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr12:12982412_12982414delATG	ENST00000358007.3	+	12	1314_1316	c.1292_1294delATG	c.(1291-1296)aatgat>aat	p.D433del	DDX47_ENST00000352940.4_In_Frame_Del_p.D384del	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	433					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		GCTGGAGATAATGATGACACAGA	0.453																																						ENST00000358007.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1291-1296)aat>a		DEAD (Asp-Glu-Ala-Asp) box polypeptide 47																																				SO:0001651	inframe_deletion	51202					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr12:12982412_12982414delATG	AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"""DEAD-boxes"""	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.1292_1294delATG	12.37:g.12982415_12982417delATG	ENSP00000350698:p.Asp433del					DDX47_ENST00000352940.4_In_Frame_Del_p.ND382del|RP11-59H1.3_ENST00000534843.1_3'UTR	p.ND431del	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0354)	12	1314_1316	+		Prostate(47;0.0526)	431					B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	In_Frame_Del	DEL	ENST00000358007.3	37	c.1292_1294delATG	CCDS8655.1																																																																																				0.453	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	NM_016355		32	69						32	69	---	---	---	---
ZNF268	10795	broad.mit.edu	37	12	133779622	133779622	+	Frame_Shift_Del	DEL	A	A	-	rs141481798		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr12:133779622delA	ENST00000536435.2	+	6	1680	c.1350delA	c.(1348-1350)ggafs	p.G450fs	ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000228289.5_Frame_Shift_Del_p.G450fs|ZNF268_ENST00000537565.1_Frame_Shift_Del_p.G289fs	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	450					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GTGATTGTGGAAAAGCCTTTA	0.398																																						ENST00000536435.2																			0				NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24						c.(1348-1350)ggfs		zinc finger protein 268			,,,,,,,,	8,3906		2,4,1951	57.0	49.0	51.0		,,,,,,,,	3.8	0.8	12		52	11,7909		4,3,3953	no	utr-3,frameshift,utr-3,utr-3,utr-3,utr-3,utr-3,frameshift,frameshift	ZNF268	NM_152943.2,NM_003415.2,NM_001165887.1,NM_001165886.1,NM_001165885.1,NM_001165884.2,NM_001165883.1,NM_001165882.2,NM_001165881.2	,,,,,,,,	6,7,5904	A1A1,A1R,RR		0.1389,0.2044,0.1606	,,,,,,,,	,,,,,,,,	133779622	19,11815	692	1590	2282	SO:0001589	frameshift_variant	10795					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:133779622delA	X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"""Zinc fingers, C2H2-type"", ""-"""	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.1350delA	12.37:g.133779622delA	ENSP00000444412:p.Gly450fs					ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000537565.1_Frame_Shift_Del_p.G289fs|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000228289.5_Frame_Shift_Del_p.G450fs	p.G450fs	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	6	1680	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)	450					Q8TDG8|Q96RH4|Q9BZJ9	Frame_Shift_Del	DEL	ENST00000536435.2	37	c.1350delA	CCDS45012.1																																																																																				0.398	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397191.2	NM_152943		2	4						2	4	---	---	---	---
RP11-19N8.4	0	broad.mit.edu	37	16	33070000	33070026	+	lincRNA	DEL	AATGTGAACATACAAAAAACAAATCAG	AATGTGAACATACAAAAAACAAATCAG	-	rs375265049		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr16:33070000_33070026delAATGTGAACATACAAAAAACAAATCAG	ENST00000561541.1	-	0	291																											ATGCCTGCCAAATGTGAACATACAAAAAACAAATCAGAATGTGCCAT	0.352																																						ENST00000561541.1																			0																																																			0							g.chr16:33070000_33070026delAATGTGAACATACAAAAAACAAATCAG																													16.37:g.33070000_33070026delAATGTGAACATACAAAAAACAAATCAG														0	291	-									RNA	DEL	ENST00000561541.1	37																																																																																						0.352	RP11-19N8.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000432096.1			2	4						2	4	---	---	---	---
