#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
SLC5A3	6526	broad.mit.edu	37	21	35467771	35467771	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr21:35467771C>T	ENST00000381151.3	+	2	786	c.274C>T	c.(274-276)Ctt>Ttt	p.L92F	AP000320.7_ENST00000362077.4_RNA|SLC5A3_ENST00000608209.1_Missense_Mutation_p.L92F|MRPS6_ENST00000399312.2_Intron			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	92					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						GCTTTTACAACTTCTGGGATG	0.478																																						ENST00000381151.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						c.(274-276)Ctt>Ttt		solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							164.0	156.0	159.0					21																	35467771		2203	4300	6503	SO:0001583	missense	6526					integral to plasma membrane	myo-inositol:sodium symporter activity	g.chr21:35467771C>T		CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.274C>T	21.37:g.35467771C>T	ENSP00000370543:p.Leu92Phe					MRPS6_ENST00000399312.2_Intron	p.L92F	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN			2	786	+			92					O43489	Missense_Mutation	SNP	ENST00000381151.3	37	c.274C>T	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493914	0.44352	.	.	ENSG00000198743	ENST00000381151	D	0.90563	-2.69	5.92	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.90397	0.6994	L	0.55743	1.74	0.47659	D	0.999483	P	0.45011	0.848	P	0.46339	0.513	D	0.89931	0.4066	10	0.44086	T	0.13	.	16.0839	0.81025	0.0:0.8658:0.1342:0.0	.	92	P53794	SC5A3_HUMAN	F	92	ENSP00000370543:L92F	ENSP00000370543:L92F	L	+	1	0	SLC5A3	34389641	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.925000	0.63425	1.523000	0.49018	-0.174000	0.13273	CTT		0.478	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			14	88	0	0	0	1	0	14	88				
ZNF264	9422	broad.mit.edu	37	19	57716772	57716772	+	Silent	SNP	T	T	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr19:57716772T>A	ENST00000263095.6	+	3	582	c.168T>A	c.(166-168)ccT>ccA	p.P56P	ZNF264_ENST00000536056.1_Silent_p.P56P	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	56	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CAGGGTGTCCTGTTCCCAAAG	0.512																																						ENST00000263095.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27						c.(166-168)ccT>ccA		zinc finger protein 264							55.0	44.0	47.0					19																	57716772		2203	4300	6503	SO:0001819	synonymous_variant	9422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57716772T>A	AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.168T>A	19.37:g.57716772T>A						ZNF264_ENST00000536056.1_Silent_p.P56P	p.P56P	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)	3	582	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	56			KRAB.		A8K8Y9|Q9P1V0	Silent	SNP	ENST00000263095.6	37	c.168T>A	CCDS33127.1																																																																																				0.512	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1			3	15	0	0	0	1	0	3	15				
IQCE	23288	broad.mit.edu	37	7	2613121	2613121	+	Splice_Site	SNP	A	A	G			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr7:2613121A>G	ENST00000402050.2	+	6	648	c.464A>G	c.(463-465)aAg>aGg	p.K155R	IQCE_ENST00000404984.1_Splice_Site_p.K104R|IQCE_ENST00000325979.7_Splice_Site_p.K90R|IQCE_ENST00000438376.2_Splice_Site_p.K139R	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	155						mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GAGTTAAAGAAGGTAGTATTT	0.393																																						ENST00000402050.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.e6+1		IQ motif containing E							158.0	145.0	149.0					7																	2613121		1890	4107	5997	SO:0001630	splice_region_variant	23288							g.chr7:2613121A>G	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.465+1A>G	7.37:g.2613121A>G						IQCE_ENST00000438376.2_Splice_Site_p.K139_splice|IQCE_ENST00000325979.7_Splice_Site_p.K90_splice|IQCE_ENST00000404984.1_Splice_Site_p.K104_splice	p.K155_splice	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	6	648	+		Ovarian(82;0.0112)	155					Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Splice_Site	SNP	ENST00000402050.2	37	c.465_splice	CCDS43542.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.262834	0.80358	.	.	ENSG00000106012	ENST00000402050;ENST00000404984;ENST00000415271;ENST00000438376;ENST00000325979;ENST00000423395;ENST00000422276	T;T;T;T;T;T	0.07800	3.16;3.16;3.16;3.16;3.16;3.16	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.28764	0.0713	M	0.76328	2.33	0.43977	D	0.996661	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.998	D;D;D;D;D;D	0.91635	0.998;0.998;0.999;0.996;0.998;0.994	T	0.01162	-1.1432	10	0.45353	T	0.12	-43.6657	14.5105	0.67784	1.0:0.0:0.0:0.0	.	90;139;90;155;155;139	B4DXN1;B4DDX4;Q6IPM2-2;Q6IPM2;B3KRY4;Q6IPM2-4	.;.;.;IQCE_HUMAN;.;.	R	155;104;191;139;90;90;90	ENSP00000385597:K155R;ENSP00000385945:K104R;ENSP00000404643:K191R;ENSP00000396178:K139R;ENSP00000313772:K90R;ENSP00000413570:K90R	ENSP00000313772:K90R	K	+	2	0	IQCE	2579647	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.659000	0.74412	2.066000	0.61787	0.533000	0.62120	AAG		0.393	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558	Missense_Mutation	8	32	0	0	0	1	0	8	32				
ABCG2	9429	broad.mit.edu	37	4	89013473	89013473	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr4:89013473C>T	ENST00000237612.3	-	16	2426	c.1881G>A	c.(1879-1881)tgG>tgA	p.W627*	ABCG2_ENST00000515655.1_3'UTR	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	627	ABC transmembrane type-2.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	CGTGATTCTTCCACAAGCCCC	0.363																																						ENST00000237612.3																			0				breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1879-1881)tgG>tgA		ATP-binding cassette, sub-family G (WHITE), member 2	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)						107.0	103.0	104.0					4																	89013473		2203	4300	6503	SO:0001587	stop_gained	9429				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	g.chr4:89013473C>T	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.1881G>A	4.37:g.89013473C>T	ENSP00000237612:p.Trp627*					ABCG2_ENST00000515655.1_3'UTR	p.W627*	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	16	2426	-		Hepatocellular(203;0.114)	627			ABC transmembrane type-2.		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Nonsense_Mutation	SNP	ENST00000237612.3	37	c.1881G>A	CCDS3628.1	.	.	.	.	.	.	.	.	.	.	C	41	8.880445	0.98988	.	.	ENSG00000118777	ENST00000237612	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.778	18.4261	0.90610	0.0:1.0:0.0:0.0	.	.	.	.	X	627	.	ENSP00000237612:W627X	W	-	3	0	ABCG2	89232497	1.000000	0.71417	0.997000	0.53966	0.340000	0.28889	5.827000	0.69300	2.501000	0.84356	0.467000	0.42956	TGG		0.363	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827		8	53	0	0	0	1	0	8	53				
DNAH5	1767	broad.mit.edu	37	5	13871034	13871034	+	Missense_Mutation	SNP	G	G	A	rs146689446		TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr5:13871034G>A	ENST00000265104.4	-	24	3780	c.3676C>T	c.(3676-3678)Cgg>Tgg	p.R1226W	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1226	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATCTCACTCCGGTATTTTTTG	0.403									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(3676-3678)Cgg>Tgg		dynein, axonemal, heavy chain 5		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	101.0	101.0	101.0		3676	3.4	1.0	5	dbSNP_134	101	2,8598	2.2+/-6.3	0,2,4298	no	missense	DNAH5	NM_001369.2	101	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	1226/4625	13871034	3,13003	2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13871034G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3676C>T	5.37:g.13871034G>A	ENSP00000265104:p.Arg1226Trp					CTB-51A17.1_ENST00000503244.1_RNA	p.R1226W	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			24	3780	-	Lung NSC(4;0.00476)		1226			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.3676C>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.819786	0.71028	2.27E-4	2.33E-4	ENSG00000039139	ENST00000265104	T	0.25250	1.81	5.84	3.4	0.38934	.	0.205916	0.49916	D	0.000123	T	0.45597	0.1350	M	0.86343	2.81	0.44085	D	0.996842	D	0.61080	0.989	P	0.52343	0.696	T	0.53322	-0.8455	10	0.62326	D	0.03	.	12.7233	0.57154	0.0:0.0:0.2715:0.7285	.	1226	Q8TE73	DYH5_HUMAN	W	1226	ENSP00000265104:R1226W	ENSP00000265104:R1226W	R	-	1	2	DNAH5	13924034	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	1.678000	0.37586	0.442000	0.26555	-0.262000	0.10625	CGG		0.403	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		15	78	0	0	0	1	0	15	78				
CNTNAP4	85445	broad.mit.edu	37	16	76556015	76556015	+	Silent	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr16:76556015C>T	ENST00000476707.1	+	16	2764	c.2625C>T	c.(2623-2625)aaC>aaT	p.N875N	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.N799N|CNTNAP4_ENST00000377504.4_Silent_p.N823N|CNTNAP4_ENST00000307431.8_Silent_p.N871N			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	872	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.N871K(1)|p.N799K(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CCCACTTCAACGACAACCAGT	0.502																																						ENST00000307431.8																			2	Substitution - Missense(2)	p.N871K(1)|p.N799K(1)	lung(2)	breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(2611-2613)aaC>aaT		contactin associated protein-like 4							167.0	165.0	166.0					16																	76556015		2033	4219	6252	SO:0001819	synonymous_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76556015C>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2625C>T	16.37:g.76556015C>T						CNTNAP4_ENST00000476707.1_Silent_p.N875N|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.N799N|CNTNAP4_ENST00000377504.4_Silent_p.N823N	p.N871N	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			18	2998	+			872			Laminin G-like 3.		E9PFZ6|Q86YZ7	Silent	SNP	ENST00000476707.1	37	c.2613C>T																																																																																					0.502	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		20	145	0	0	0	1	0	20	145				
NACA2	342538	broad.mit.edu	37	17	59668532	59668532	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr17:59668532C>T	ENST00000521764.1	-	1	31	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	4					myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TCTGTGGCTTCGCCCGGCATT	0.582																																						ENST00000521764.1																			0				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(10-12)Gaa>Aaa		nascent polypeptide-associated complex alpha subunit 2							54.0	50.0	52.0					17																	59668532		2203	4300	6503	SO:0001583	missense	342538				protein transport	cytoplasm|nucleus		g.chr17:59668532C>T	BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506			23290	protein-coding gene	gene with protein product	"""alpha-NAC protein"""	609274	"""nascent-polypeptide-associated complex alpha polypeptide-like"""	NACAL		12406326	Standard	NM_199290		Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.10G>A	17.37:g.59668532C>T	ENSP00000427802:p.Glu4Lys						p.E4K	NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN			1	31	-	all_epithelial(1;3.12e-14)		4					Q2VIR9	Missense_Mutation	SNP	ENST00000521764.1	37	c.10G>A	CCDS11630.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.357868	0.41801	.	.	ENSG00000253506	ENST00000521764	T	0.49139	0.79	0.753	0.753	0.18404	.	0.090258	0.41396	U	0.000893	T	0.37517	0.1006	L	0.57536	1.79	0.30393	N	0.780813	B	0.18166	0.026	B	0.08055	0.003	T	0.31138	-0.9954	8	.	.	.	.	.	.	.	.	4	Q9H009	NACA2_HUMAN	K	4	ENSP00000427802:E4K	.	E	-	1	0	NACA2	57023314	0.996000	0.38824	0.753000	0.31225	0.025000	0.11179	1.053000	0.30442	0.702000	0.31825	0.411000	0.27672	GAA		0.582	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255437.2	NM_199290		4	64	0	0	0	1	0	4	64				
MTF1	4520	broad.mit.edu	37	1	38287981	38287981	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:38287981C>T	ENST00000373036.4	-	9	1719	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	527					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGCAGGGGCTCAGTAGTACTT	0.557																																						ENST00000373036.4																			0				endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31						c.(1579-1581)Gag>Aag		metal-regulatory transcription factor 1							88.0	81.0	83.0					1																	38287981		2203	4300	6503	SO:0001583	missense	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38287981C>T	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.1579G>A	1.37:g.38287981C>T	ENSP00000362127:p.Glu527Lys						p.E527K	NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN			9	1719	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	527					B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	c.1579G>A	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847154	0.71603	.	.	ENSG00000188786	ENST00000373036	T	0.42900	0.96	6.04	6.04	0.98038	.	0.251222	0.46758	D	0.000266	T	0.46870	0.1415	M	0.62723	1.935	0.48901	D	0.999724	B	0.26635	0.155	B	0.24155	0.051	T	0.38045	-0.9679	10	0.59425	D	0.04	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	527	Q14872	MTF1_HUMAN	K	527	ENSP00000362127:E527K	ENSP00000362127:E527K	E	-	1	0	MTF1	38060568	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.443000	0.66581	2.873000	0.98535	0.561000	0.74099	GAG		0.557	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		12	58	0	0	0	1	0	12	58				
TAS2R1	50834	broad.mit.edu	37	5	9629542	9629542	+	Silent	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr5:9629542C>T	ENST00000382492.2	-	1	921	c.603G>A	c.(601-603)ctG>ctA	p.L201L	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	201					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TGTGCCTCCCCAGAGAGAAAA	0.498																																						ENST00000382492.2																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						c.(601-603)ctG>ctA		taste receptor, type 2, member 1							49.0	56.0	53.0					5																	9629542		2203	4300	6503	SO:0001819	synonymous_variant	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9629542C>T	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.603G>A	5.37:g.9629542C>T						CTD-2001E22.1_ENST00000504182.2_RNA	p.L201L	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN			1	921	-			201					Q646G8	Silent	SNP	ENST00000382492.2	37	c.603G>A	CCDS3876.1																																																																																				0.498	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			4	83	0	0	0	1	0	4	83				
PLCD1	5333	broad.mit.edu	37	3	38058144	38058144	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr3:38058144C>T	ENST00000334661.4	-	3	488	c.266G>A	c.(265-267)cGt>cAt	p.R89H	PLCD1_ENST00000479619.1_5'UTR|PLCD1_ENST00000463876.1_Missense_Mutation_p.R110H|Y_RNA_ENST00000363709.1_RNA	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	89	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GGGCACATCACGGGCGAACTT	0.612																																						ENST00000463876.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24						c.(328-330)cGt>cAt		phospholipase C, delta 1							80.0	76.0	78.0					3																	38058144		2203	4300	6503	SO:0001583	missense	5333				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:38058144C>T		CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"""EF-hand domain containing"""	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.266G>A	3.37:g.38058144C>T	ENSP00000335600:p.Arg89His					PLCD1_ENST00000479619.1_5'UTR|PLCD1_ENST00000334661.4_Missense_Mutation_p.R89H	p.R110H	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	3	682	-			89			PH.		B3KR14|Q86VN8	Missense_Mutation	SNP	ENST00000334661.4	37	c.329G>A	CCDS2671.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.363131	0.41902	.	.	ENSG00000187091	ENST00000463876;ENST00000334661	T;T	0.64260	-0.09;-0.09	4.19	4.19	0.49359	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.256045	0.38164	N	0.001781	T	0.35913	0.0948	N	0.08118	0	0.09310	N	1	B;B	0.13145	0.007;0.004	B;B	0.14023	0.005;0.01	T	0.07177	-1.0786	10	0.33940	T	0.23	.	5.2195	0.15362	0.0:0.6439:0.2121:0.144	.	89;110	P51178;B3KR14	PLCD1_HUMAN;.	H	110;89	ENSP00000430344:R110H;ENSP00000335600:R89H	ENSP00000335600:R89H	R	-	2	0	PLCD1	38033148	0.013000	0.17824	0.922000	0.36590	0.864000	0.49448	2.114000	0.41911	2.281000	0.76405	0.557000	0.71058	CGT		0.612	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2			5	14	0	0	0	1	0	5	14				
PCNXL3	399909	broad.mit.edu	37	11	65401690	65401690	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr11:65401690G>A	ENST00000355703.3	+	28	5103	c.4564G>A	c.(4564-4566)Ggc>Agc	p.G1522S	MIR4690_ENST00000578459.1_RNA|PCNXL3_ENST00000531280.1_3'UTR	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1522						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GCGGGTGCCCGGCTATGCCGA	0.622																																						ENST00000355703.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(4564-4566)Ggc>Agc		pecanex-like 3 (Drosophila)							32.0	40.0	37.0					11																	65401690		2132	4229	6361	SO:0001583	missense	399909					integral to membrane		g.chr11:65401690G>A	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.4564G>A	11.37:g.65401690G>A	ENSP00000347931:p.Gly1522Ser					PCNXL3_ENST00000531280.1_3'UTR	p.G1522S	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN			28	5103	+			1522					Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.4564G>A	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	9.339	1.062457	0.19987	.	.	ENSG00000197136	ENST00000355703	T	0.06142	3.34	4.5	4.5	0.54988	.	0.217330	0.41001	D	0.000978	T	0.04815	0.0130	N	0.19112	0.55	0.28681	N	0.905101	P;P	0.43314	0.803;0.707	B;B	0.40285	0.325;0.071	T	0.32079	-0.9920	10	0.30078	T	0.28	.	10.3559	0.43964	0.0:0.0:0.8038:0.1962	.	409;1522	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	S	1522	ENSP00000347931:G1522S	ENSP00000347931:G1522S	G	+	1	0	PCNXL3	65158266	0.995000	0.38212	0.916000	0.36221	0.143000	0.21401	2.570000	0.45981	2.239000	0.73571	0.561000	0.74099	GGC		0.622	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		3	28	0	0	0	1	0	3	28				
FLJ33360	401172	broad.mit.edu	37	5	6337355	6337355	+	lincRNA	SNP	C	C	T	rs570431885		TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr5:6337355C>T	ENST00000507444.1	-	0	50					NR_028351.1																						ACAGCTTTTTCGATGCTCACT	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		17026	0.001		0.0	False		,,,				2504	0.0					ENST00000507444.1																			0																				104.0	95.0	98.0					5																	6337355		1931	4131	6062			401172							g.chr5:6337355C>T																													5.37:g.6337355C>T								NR_028351.1						0	50	-									RNA	SNP	ENST00000507444.1	37																																																																																						0.527	CTD-2324F15.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000365707.1			11	77	0	0	0	1	0	11	77				
NECAP2	55707	broad.mit.edu	37	1	16785408	16785408	+	3'UTR	SNP	G	G	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:16785408G>A	ENST00000337132.5	+	0	905				NECAP2_ENST00000457722.2_3'UTR|NECAP2_ENST00000504551.2_3'UTR|RP4-798A10.2_ENST00000457898.1_lincRNA|NECAP2_ENST00000443980.2_Missense_Mutation_p.V247M|NECAP2_ENST00000406746.1_3'UTR	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2						endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TTTTCCTCATGTGACTTCTGG	0.577																																						ENST00000443980.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(739-741)Gtg>Atg		NECAP endocytosis associated 2							73.0	74.0	73.0					1																	16785408		2203	4300	6503	SO:0001624	3_prime_UTR_variant	55707				endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane		g.chr1:16785408G>A	AK021938	CCDS173.1, CCDS44066.1, CCDS44067.1	1p36.13	2008-02-05			ENSG00000157191	ENSG00000157191			25528	protein-coding gene	gene with protein product		611624				14555962, 15494011	Standard	NM_001145277		Approved	FLJ10420	uc001ayq.3	Q9NVZ3	OTTHUMG00000002313	ENST00000337132.5:c.*23G>A	1.37:g.16785408G>A						NECAP2_ENST00000457722.2_3'UTR|NECAP2_ENST00000406746.1_3'UTR|NECAP2_ENST00000337132.5_3'UTR|NECAP2_ENST00000504551.2_3'UTR	p.V247M	NM_001145277.1	NP_001138749.1	Q9NVZ3	NECP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	7	765	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	249					B4DY19|E9PGQ8|Q5VSU4|Q5VSU5|Q9H7L1|Q9H8L1	Missense_Mutation	SNP	ENST00000337132.5	37	c.739G>A	CCDS173.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.197202	0.58126	.	.	ENSG00000157191	ENST00000443980	T	0.48201	0.82	5.57	-9.41	0.00613	.	1.285670	0.05314	N	0.525357	T	0.25306	0.0615	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.23726	-1.0180	9	0.62326	D	0.03	2.9675	1.342	0.02156	0.2567:0.2179:0.3383:0.1871	.	247	Q9NVZ3-2	.	M	247	ENSP00000391942:V247M	ENSP00000391942:V247M	V	+	1	0	NECAP2	16657995	0.000000	0.05858	0.000000	0.03702	0.978000	0.69477	-0.351000	0.07711	-1.548000	0.01712	-0.258000	0.10820	GTG		0.577	NECAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006680.2	NM_018090		9	39	0	0	0	1	0	9	39				
PRR27	401137	broad.mit.edu	37	4	71024299	71024299	+	Silent	SNP	G	G	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr4:71024299G>A	ENST00000344526.5	+	3	519	c.330G>A	c.(328-330)ccG>ccA	p.P110P	C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Silent_p.P110P	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		110	Ala/Pro-rich.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGGGTTTCCCGTTTGTCCCTC	0.532																																						ENST00000344526.5																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(328-330)ccG>ccA		chromosome 4 open reading frame 40							197.0	199.0	198.0					4																	71024299		2203	4300	6503	SO:0001819	synonymous_variant	401137					extracellular region		g.chr4:71024299G>A																												ENST00000344526.5:c.330G>A	4.37:g.71024299G>A						C4orf40_ENST00000502294.1_Silent_p.P110P|C4orf40_ENST00000502441.2_3'UTR	p.P110P	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN			3	519	+			110					A8MXP0|Q6MZR6	Silent	SNP	ENST00000344526.5	37	c.330G>A	CCDS3535.1																																																																																				0.532	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1			45	211	0	0	0	1	0	45	211				
CEP192	55125	broad.mit.edu	37	18	13048862	13048862	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr18:13048862C>T	ENST00000325971.8	+	14	1877	c.284C>T	c.(283-285)aCt>aTt	p.T95I	CEP192_ENST00000506447.1_Missense_Mutation_p.T691I|CEP192_ENST00000430049.2_Missense_Mutation_p.T216I			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	95					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTCTAGGACACTTTCTTCATG	0.398																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2071-2073)aCt>aTt		centrosomal protein 192kDa							58.0	61.0	60.0					18																	13048862		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13048862C>T	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.284C>T	18.37:g.13048862C>T	ENSP00000317156:p.Thr95Ile					CEP192_ENST00000325971.8_Missense_Mutation_p.T95I|CEP192_ENST00000430049.2_Missense_Mutation_p.T216I	p.T691I	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			16	2152	+			286					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.2072C>T		.	.	.	.	.	.	.	.	.	.	C	10.26	1.301694	0.23736	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.06687	3.27;3.35;3.35	4.91	-0.649	0.11461	.	1.155410	0.06812	N	0.790522	T	0.06096	0.0158	L	0.29908	0.895	0.80722	D	1	B;B;B	0.16396	0.004;0.004;0.017	B;B;B	0.17433	0.018;0.018;0.018	T	0.28744	-1.0034	10	0.48119	T	0.1	-1.8466	2.4377	0.04487	0.1296:0.4842:0.1271:0.2591	.	216;691;95	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	I	691;95;95;216	ENSP00000427550:T691I;ENSP00000317156:T95I;ENSP00000389190:T216I	ENSP00000317156:T95I	T	+	2	0	CEP192	13038862	0.000000	0.05858	0.011000	0.14972	0.074000	0.17049	-0.706000	0.05047	-0.102000	0.12197	-0.859000	0.03014	ACT		0.398	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		15	34	0	0	0	1	0	15	34				
UBR4	23352	broad.mit.edu	37	1	19468218	19468218	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:19468218C>T	ENST00000375254.3	-	56	8260	c.8233G>A	c.(8233-8235)Ggg>Agg	p.G2745R	UBR4_ENST00000375267.2_Missense_Mutation_p.G2745R|UBR4_ENST00000375226.2_Missense_Mutation_p.G2756R|UBR4_ENST00000375217.2_Missense_Mutation_p.G2773R	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2745					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTCGGGATCCCTGATGACTGC	0.507																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(8233-8235)Ggg>Agg		ubiquitin protein ligase E3 component n-recognin 4							171.0	144.0	153.0					1																	19468218		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19468218C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.8233G>A	1.37:g.19468218C>T	ENSP00000364403:p.Gly2745Arg					UBR4_ENST00000375254.3_Missense_Mutation_p.G2745R|UBR4_ENST00000375217.2_Missense_Mutation_p.G2773R|UBR4_ENST00000375226.2_Missense_Mutation_p.G2756R	p.G2745R			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	56	8236	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2745					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.8233G>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.385948	0.42308	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.22539	1.97;1.97;1.95;1.97	5.96	5.96	0.96718	.	0.286592	0.36519	N	0.002552	T	0.12987	0.0315	N	0.08118	0	0.80722	D	1	B	0.34015	0.435	B	0.31337	0.128	T	0.18967	-1.0320	10	0.18276	T	0.48	.	20.3959	0.98984	0.0:1.0:0.0:0.0	.	2745	Q5T4S7	UBR4_HUMAN	R	2745;2745;2773;2756;388;1466	ENSP00000364403:G2745R;ENSP00000364416:G2745R;ENSP00000364365:G2773R;ENSP00000364374:G2756R	ENSP00000364365:G2773R	G	-	1	0	UBR4	19340805	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.691000	0.68249	2.828000	0.97474	0.579000	0.79373	GGG		0.507	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		14	108	0	0	0	1	0	14	108				
NCOA7	135112	broad.mit.edu	37	6	126211861	126211861	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr6:126211861G>T	ENST00000368357.3	+	11	2353	c.2001G>T	c.(1999-2001)atG>atT	p.M667I	NCOA7_ENST00000229634.9_Missense_Mutation_p.M552I|NCOA7_ENST00000392477.2_Missense_Mutation_p.M667I	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	667					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		GAAAACCAATGAGAAAATCCT	0.473																																						ENST00000368357.3																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39						c.(1999-2001)atG>atT		nuclear receptor coactivator 7							83.0	81.0	81.0					6																	126211861		2203	4300	6503	SO:0001583	missense	135112				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:126211861G>T	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.2001G>T	6.37:g.126211861G>T	ENSP00000357341:p.Met667Ile					NCOA7_ENST00000392477.2_Missense_Mutation_p.M667I|NCOA7_ENST00000229634.9_Missense_Mutation_p.M552I	p.M667I	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)	11	2353	+			667					B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	ENST00000368357.3	37	c.2001G>T	CCDS5132.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005413	0.93287	.	.	ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634	T;T;T	0.15256	2.44;2.44;2.46	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.27205	0.0667	L	0.48174	1.505	0.80722	D	1	P;D;D	0.58268	0.518;0.982;0.969	B;D;D	0.68943	0.129;0.961;0.914	T	0.00356	-1.1793	10	0.34782	T	0.22	-19.3301	19.6416	0.95760	0.0:0.0:1.0:0.0	.	656;656;667	B3KXK4;Q8NI08-2;Q8NI08	.;.;NCOA7_HUMAN	I	667;667;552	ENSP00000357341:M667I;ENSP00000376269:M667I;ENSP00000229634:M552I	ENSP00000229634:M552I	M	+	3	0	NCOA7	126253554	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.720000	0.93068	0.563000	0.77884	ATG		0.473	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748		5	47	1	0	0.000602214	1	0.000624939	5	47				
CCT4	10575	broad.mit.edu	37	2	62104184	62104184	+	Silent	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr2:62104184C>T	ENST00000394440.3	-	7	944	c.648G>A	c.(646-648)ggG>ggA	p.G216G	CCT4_ENST00000544185.1_Silent_p.G66G|CCT4_ENST00000461540.2_5'Flank|CCT4_ENST00000544079.1_Silent_p.G186G|CCT4_ENST00000538252.1_Silent_p.G160G|AC107081.5_ENST00000425779.1_RNA	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	216					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			CATCAATTGTCCCACTAAGGA	0.398																																						ENST00000394440.3																			0				breast(1)|large_intestine(2)|lung(6)|ovary(2)	11						c.(646-648)ggG>ggA		chaperonin containing TCP1, subunit 4 (delta)							70.0	71.0	71.0					2																	62104184		2203	4300	6503	SO:0001819	synonymous_variant	10575				'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding	g.chr2:62104184C>T		CCDS33206.1, CCDS58711.1	2p15	2011-09-02			ENSG00000115484	ENSG00000115484		"""Heat Shock Proteins / Chaperonins"""	1617	protein-coding gene	gene with protein product		605142				9819444	Standard	NM_001256721		Approved	Cctd	uc002sbo.4	P50991	OTTHUMG00000152166	ENST00000394440.3:c.648G>A	2.37:g.62104184C>T						AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000538252.1_Silent_p.G160G|CCT4_ENST00000544079.1_Silent_p.G186G|CCT4_ENST00000544185.1_Silent_p.G66G	p.G216G	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)		7	944	-	Lung NSC(7;0.035)|all_lung(7;0.0691)		216					B2R6I3|B7Z8B1|F5H5W3|O14870|Q53QP9|Q96C51	Silent	SNP	ENST00000394440.3	37	c.648G>A	CCDS33206.1																																																																																				0.398	CCT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325548.2			9	48	0	0	0	1	0	9	48				
OR2T6	254879	broad.mit.edu	37	1	248551037	248551037	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:248551037G>A	ENST00000355728.2	+	1	128	c.128G>A	c.(127-129)gGg>gAg	p.G43E		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATAGCTAATGGGGTCATGATC	0.473																																						ENST00000355728.2																			0				endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(127-129)gGg>gAg		olfactory receptor, family 2, subfamily T, member 6							212.0	176.0	188.0					1																	248551037		2203	4300	6503	SO:0001583	missense	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551037G>A	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.128G>A	1.37:g.248551037G>A	ENSP00000347965:p.Gly43Glu						p.G43E	NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	128	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		43					A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	c.128G>A	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	G	8.129	0.782583	0.16189	.	.	ENSG00000198104	ENST00000355728	T	0.03035	4.07	4.38	3.38	0.38709	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000310	T	0.04815	0.0130	M	0.63843	1.955	0.09310	N	1	P	0.38745	0.645	B	0.35114	0.196	T	0.29761	-1.0001	10	0.51188	T	0.08	.	8.7324	0.34507	0.0:0.1354:0.6152:0.2494	.	43	Q8NHC8	OR2T6_HUMAN	E	43	ENSP00000347965:G43E	ENSP00000347965:G43E	G	+	2	0	OR2T6	246617660	0.000000	0.05858	0.319000	0.25293	0.243000	0.25628	0.583000	0.23849	2.423000	0.82170	0.643000	0.83706	GGG		0.473	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		7	95	0	0	0	1	0	7	95				
TRIM23	373	broad.mit.edu	37	5	64906779	64906779	+	Missense_Mutation	SNP	T	T	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr5:64906779T>A	ENST00000231524.9	-	5	1108	c.737A>T	c.(736-738)gAt>gTt	p.D246V	TRIM23_ENST00000508808.1_5'Flank|TRIM23_ENST00000274327.7_Missense_Mutation_p.D246V|TRIM23_ENST00000381018.3_Missense_Mutation_p.D246V	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	246					GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		TCTGGAATAATCTGAGATTTC	0.393																																						ENST00000231524.9																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28						c.(736-738)gAt>gTt		tripartite motif containing 23							133.0	123.0	126.0					5																	64906779		2203	4300	6503	SO:0001583	missense	373				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:64906779T>A	L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.737A>T	5.37:g.64906779T>A	ENSP00000231524:p.Asp246Val					TRIM23_ENST00000381018.3_Missense_Mutation_p.D246V|TRIM23_ENST00000274327.7_Missense_Mutation_p.D246V	p.D246V	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN		Lung(70;0.00473)	5	1108	-		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)	246					Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	c.737A>T	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	T	18.70	3.680493	0.68042	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	T;T;T	0.74002	-0.74;-0.72;-0.8	5.57	5.57	0.84162	B-box, C-terminal (1);	0.094692	0.64402	D	0.000001	T	0.68265	0.2982	L	0.29908	0.895	0.80722	D	1	P;P;B	0.36065	0.535;0.493;0.275	B;B;B	0.39465	0.151;0.3;0.149	T	0.72411	-0.4302	10	0.87932	D	0	.	15.7133	0.77649	0.0:0.0:0.0:1.0	.	246;246;246	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	V	246	ENSP00000231524:D246V;ENSP00000370406:D246V;ENSP00000274327:D246V	ENSP00000231524:D246V	D	-	2	0	TRIM23	64942535	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.635000	0.83286	2.126000	0.65437	0.482000	0.46254	GAT		0.393	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656		7	36	0	0	0	1	0	7	36				
PRAMEF1	65121	broad.mit.edu	37	1	12855611	12855611	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:12855611C>A	ENST00000332296.7	+	4	994	c.891C>A	c.(889-891)aaC>aaA	p.N297K	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.N52K	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	297					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTGGAGAACTTGGAATTAA	0.468																																						ENST00000332296.7																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(889-891)aaC>aaA		PRAME family member 1							40.0	44.0	43.0					1																	12855611		2187	4274	6461	SO:0001583	missense	65121							g.chr1:12855611C>A	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.891C>A	1.37:g.12855611C>A	ENSP00000332134:p.Asn297Lys					PRAMEF1_ENST00000400814.3_Missense_Mutation_p.N52K	p.N297K	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	994	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	297					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.891C>A	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	0.448	-0.895040	0.02491	.	.	ENSG00000116721	ENST00000332296;ENST00000400814	T;T	0.52526	0.66;0.66	1.56	-2.19	0.07015	.	1.059330	0.07338	N	0.880247	T	0.30823	0.0777	L	0.33245	0.995	0.09310	N	1	B	0.28470	0.213	B	0.26416	0.069	T	0.24512	-1.0158	10	0.56958	D	0.05	.	2.1494	0.03795	0.2488:0.3982:0.0:0.353	.	297	O95521	PRAM1_HUMAN	K	297;52	ENSP00000332134:N297K;ENSP00000383616:N52K	ENSP00000332134:N297K	N	+	3	2	PRAMEF1	12778198	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.217000	0.09253	-0.696000	0.05098	0.205000	0.17691	AAC		0.468	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		4	112	1	0	5.4927e-09	1	6.08252e-09	4	112				
GRID1	2894	broad.mit.edu	37	10	87373297	87373297	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr10:87373297C>T	ENST00000327946.7	-	15	2553	c.2468G>A	c.(2467-2469)gGc>gAc	p.G823D	GRID1_ENST00000536331.1_Missense_Mutation_p.G394D|GRID1_ENST00000552278.2_5'Flank	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	823					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GAGGGATTTGCCGTCGGCCTG	0.652										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(2467-2469)gGc>gAc		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						66.0	72.0	70.0					10																	87373297		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87373297C>T	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2468G>A	10.37:g.87373297C>T	ENSP00000330148:p.Gly823Asp	Multiple Myeloma(13;0.14)				GRID1_ENST00000536331.1_Missense_Mutation_p.G394D	p.G823D	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			15	2553	-			823					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.2468G>A	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.016428	0.93404	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.52526	0.66;0.66	5.57	5.57	0.84162	Ionotropic glutamate receptor (1);	0.200939	0.52532	D	0.000061	T	0.67211	0.2869	L	0.60957	1.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68796	-0.5314	10	0.87932	D	0	.	18.5432	0.91037	0.0:1.0:0.0:0.0	.	823	Q9ULK0	GRID1_HUMAN	D	823;394	ENSP00000330148:G823D;ENSP00000444455:G394D	ENSP00000330148:G823D	G	-	2	0	GRID1	87363277	1.000000	0.71417	0.994000	0.49952	0.953000	0.61014	7.445000	0.80570	2.633000	0.89246	0.650000	0.86243	GGC		0.652	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		4	115	0	0	0	1	0	4	115				
ATG9B	285973	broad.mit.edu	37	7	150721007	150721007	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr7:150721007G>A	ENST00000444312.1	-	0	579				ATG9B_ENST00000377974.2_Silent_p.H168H|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605952.1_Silent_p.H168H|ATG9B_ENST00000605938.1_Silent_p.H168H			Q674R7	ATG9B_HUMAN	autophagy related 9B						autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTCCTCCCCGTGGATGGGTG	0.612																																						ENST00000444312.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14								autophagy related 9B							11.0	13.0	12.0					7																	150721007		1943	4137	6080			285973				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane		g.chr7:150721007G>A	AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634		7.37:g.150721007G>A						ATG9B_ENST00000377974.2_Silent_p.H168H|ATG9B_ENST00000605938.1_Silent_p.H168H|ATG9B_ENST00000605952.1_Silent_p.H168H|ATG9B_ENST00000494791.1_5'UTR				Q674R7	ATG9B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	0	579	-	all_neural(206;0.219)							A1A5D3|Q6JRW5|Q8N8I8	Translation_Start_Site	SNP	ENST00000444312.1	37																																																																																						0.612	ATG9B-202	KNOWN	basic	protein_coding	protein_coding		NM_173681		3	6	0	0	0	1	0	3	6				
ZDHHC6	64429	broad.mit.edu	37	10	114194100	114194100	+	Silent	SNP	T	T	C			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr10:114194100T>C	ENST00000369405.3	-	7	1281	c.858A>G	c.(856-858)ggA>ggG	p.G286G	ZDHHC6_ENST00000369404.3_Silent_p.G282G|ZDHHC6_ENST00000482410.1_5'Flank	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	286					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		GCCACTCAAGTCCATCTCCTT	0.418																																						ENST00000369405.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(856-858)ggA>ggG		zinc finger, DHHC-type containing 6							112.0	100.0	104.0					10																	114194100		2203	4300	6503	SO:0001819	synonymous_variant	64429					integral to membrane	acyltransferase activity|zinc ion binding	g.chr10:114194100T>C	AK025605	CCDS7574.1	10q26.11	2008-05-02			ENSG00000023041	ENSG00000023041		"""Zinc fingers, DHHC-type"""	19160	protein-coding gene	gene with protein product							Standard	NM_022494		Approved	ZNF376, FLJ21952	uc001kzv.3	Q9H6R6	OTTHUMG00000019062	ENST00000369405.3:c.858A>G	10.37:g.114194100T>C						ZDHHC6_ENST00000369404.3_Silent_p.G282G	p.G286G	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN		Epithelial(162;0.0291)|all cancers(201;0.117)	7	1281	-		Colorectal(252;0.198)	286					D3DRB6|Q53G45|Q96IV7|Q9H605	Silent	SNP	ENST00000369405.3	37	c.858A>G	CCDS7574.1																																																																																				0.418	ZDHHC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050393.1	NM_022494		4	65	0	0	0	1	0	4	65				
IKBKB	3551	broad.mit.edu	37	8	42171842	42171842	+	Missense_Mutation	SNP	A	A	G			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr8:42171842A>G	ENST00000520810.1	+	9	881	c.695A>G	c.(694-696)cAt>cGt	p.H232R	IKBKB_ENST00000379708.3_Missense_Mutation_p.H9R|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.H230R|IKBKB_ENST00000416505.2_Missense_Mutation_p.H173R	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	232	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	ATTTGCAGGCATTCAAAAGTG	0.423																																						ENST00000520810.1																			0				breast(4)|lung(1)|ovary(2)|skin(1)	8						c.(694-696)cAt>cGt		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						213.0	189.0	197.0					8																	42171842		2203	4300	6503	SO:0001583	missense	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42171842A>G	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.695A>G	8.37:g.42171842A>G	ENSP00000430684:p.His232Arg					IKBKB_ENST00000520835.1_Missense_Mutation_p.H230R|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Missense_Mutation_p.H9R|IKBKB_ENST00000416505.2_Missense_Mutation_p.H173R	p.H232R	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		9	881	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	232			Protein kinase.		B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	ENST00000520810.1	37	c.695A>G	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.260339	0.80246	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.40476	1.03;1.03;1.03;2.57	5.85	5.85	0.93711	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.55081	0.1898	L	0.35288	1.05	0.58432	D	0.999999	D;D;D;D;P;D	0.76494	0.984;0.991;0.999;0.992;0.953;0.986	P;P;D;D;P;P	0.78314	0.855;0.865;0.991;0.917;0.864;0.878	T	0.58340	-0.7653	10	0.87932	D	0	.	16.2343	0.82363	1.0:0.0:0.0:0.0	.	173;230;9;183;232;232	B4E0U4;O14920-2;B3KRB7;Q59GL9;O14920;Q32ND9	.;.;.;.;IKKB_HUMAN;.	R	232;173;230;9	ENSP00000430684:H232R;ENSP00000404920:H173R;ENSP00000430868:H230R;ENSP00000369030:H9R	ENSP00000369030:H9R	H	+	2	0	IKBKB	42290999	1.000000	0.71417	0.947000	0.38551	0.574000	0.36063	8.625000	0.90965	2.234000	0.73211	0.533000	0.62120	CAT		0.423	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			18	176	0	0	0	1	0	18	176				
ARHGAP17	55114	broad.mit.edu	37	16	24950790	24950790	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr16:24950790G>A	ENST00000289968.6	-	17	1688	c.1619C>T	c.(1618-1620)cCa>cTa	p.P540L	ARHGAP17_ENST00000303665.5_Intron|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	540	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		AGGGGGCTCTGGGCCAGCGGG	0.677																																						ENST00000289968.6																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(1618-1620)cCa>cTa		Rho GTPase activating protein 17							15.0	21.0	19.0					16																	24950790		2192	4295	6487	SO:0001583	missense	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24950790G>A	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.1619C>T	16.37:g.24950790G>A	ENSP00000289968:p.Pro540Leu					ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Intron	p.P540L	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	17	1688	-			540			Pro-rich.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	c.1619C>T	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693356	0.48202	.	.	ENSG00000140750	ENST00000289968;ENST00000455311	T	0.22539	1.95	5.0	4.02	0.46733	.	0.165272	0.29119	N	0.013090	T	0.28167	0.0695	L	0.47716	1.5	0.80722	D	1	P;P	0.51351	0.682;0.944	B;P	0.52957	0.205;0.714	T	0.01424	-1.1358	10	0.41790	T	0.15	.	10.4743	0.44655	0.0:0.0:0.8064:0.1935	.	540;73	Q68EM7;Q68EM7-7	RHG17_HUMAN;.	L	540	ENSP00000289968:P540L	ENSP00000289968:P540L	P	-	2	0	ARHGAP17	24858291	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.478000	0.66806	1.290000	0.44636	0.655000	0.94253	CCA		0.677	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		3	24	0	0	0	1	0	3	24				
LDB3	11155	broad.mit.edu	37	10	88476357	88476357	+	Missense_Mutation	SNP	C	C	T	rs528611881		TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr10:88476357C>T	ENST00000361373.4	+	9	1526	c.1505C>T	c.(1504-1506)cCg>cTg	p.P502L	LDB3_ENST00000458213.2_Missense_Mutation_p.P392L|LDB3_ENST00000352360.5_Missense_Mutation_p.P245L|LDB3_ENST00000429277.2_Missense_Mutation_p.P507L|LDB3_ENST00000263066.6_Missense_Mutation_p.P392L	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						AAGTTTGCCCCGGGCAAGAGC	0.672																																						ENST00000429277.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						c.(1519-1521)cCg>cTg		LIM domain binding 3							69.0	75.0	73.0					10																	88476357		2203	4300	6503	SO:0001583	missense	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88476357C>T	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.1505C>T	10.37:g.88476357C>T	ENSP00000355296:p.Pro502Leu					LDB3_ENST00000352360.5_Missense_Mutation_p.P245L|LDB3_ENST00000458213.2_Missense_Mutation_p.P392L|LDB3_ENST00000361373.4_Missense_Mutation_p.P502L|LDB3_ENST00000263066.6_Missense_Mutation_p.P392L	p.P507L	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN			10	1665	+			502						Missense_Mutation	SNP	ENST00000361373.4	37	c.1520C>T	CCDS7377.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.499369	0.85069	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000458213;ENST00000352360;ENST00000263066;ENST00000361373	T;T;T;T;T	0.57107	0.66;0.54;0.49;0.54;0.42	5.17	5.17	0.71159	.	0.000000	0.32204	N	0.006425	T	0.75910	0.3914	M	0.83483	2.645	0.80722	D	1	D;D;P;D;P	0.89917	0.977;1.0;0.821;1.0;0.821	B;D;B;D;B	0.83275	0.341;0.996;0.277;0.98;0.139	T	0.78391	-0.2222	10	0.54805	T	0.06	.	19.0198	0.92908	0.0:1.0:0.0:0.0	.	507;423;245;502;392	B4E3K3;F5H0C2;O75112-3;O75112;O75112-2	.;.;.;LDB3_HUMAN;.	L	423;507;392;245;392;502	ENSP00000401437:P507L;ENSP00000409148:P392L;ENSP00000263067:P245L;ENSP00000263066:P392L;ENSP00000355296:P502L	ENSP00000263066:P392L	P	+	2	0	LDB3	88466337	1.000000	0.71417	0.954000	0.39281	0.980000	0.70556	7.635000	0.83286	2.561000	0.86390	0.650000	0.86243	CCG		0.672	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			20	116	0	0	0	1	0	20	116				
STK32C	282974	broad.mit.edu	37	10	134039104	134039104	+	Silent	SNP	G	G	T	rs79590008	byFrequency	TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr10:134039104G>T	ENST00000368622.1	-	6	729	c.348C>A	c.(346-348)acC>acA	p.T116T	STK32C_ENST00000368625.4_Silent_p.T246T					serine/threonine kinase 32C											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		TGTTGAAGTCGGTCAGGTGTG	0.617																																						ENST00000368622.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23						c.(346-348)acC>acA		serine/threonine kinase 32C							214.0	184.0	194.0					10																	134039104		2203	4300	6503	SO:0001819	synonymous_variant	282974						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr10:134039104G>T	AK057849	CCDS7666.1	10q26.3	2004-07-22			ENSG00000165752	ENSG00000165752			21332	protein-coding gene	gene with protein product							Standard	NM_173575		Approved	PKE, MGC23665, YANK3	uc001lle.1	Q86UX6	OTTHUMG00000019285	ENST00000368622.1:c.348C>A	10.37:g.134039104G>T						STK32C_ENST00000368625.4_Silent_p.T246T	p.T116T			Q86UX6	ST32C_HUMAN		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)	6	729	-		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)	233			Protein kinase.			Silent	SNP	ENST00000368622.1	37	c.348C>A																																																																																					0.617	STK32C-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051068.2	NM_173575		31	147	1	0	7.11191e-15	1	8.09286e-15	31	147				
ARHGEF38	54848	broad.mit.edu	37	4	106474093	106474093	+	Silent	SNP	G	G	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr4:106474093G>A	ENST00000420470.2	+	1	315	c.171G>A	c.(169-171)agG>agA	p.R57R	ARHGEF38_ENST00000265154.2_Silent_p.R57R|AC004066.3_ENST00000514879.1_RNA	NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN	Rho guanine nucleotide exchange factor (GEF) 38	57						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						AATCTGACAGGACTGAATACA	0.458																																						ENST00000420470.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						c.(169-171)agG>agA		Rho guanine nucleotide exchange factor (GEF) 38							62.0	59.0	60.0					4																	106474093		2203	4300	6503	SO:0001819	synonymous_variant	54848				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr4:106474093G>A	AK000191	CCDS3670.1, CCDS56338.1	4q24	2012-07-24			ENSG00000236699	ENSG00000236699		"""Rho guanine nucleotide exchange factors"""	25968	protein-coding gene	gene with protein product							Standard	NM_001242729		Approved	FLJ20184	uc003hxv.2	Q9NXL2	OTTHUMG00000154752	ENST00000420470.2:c.171G>A	4.37:g.106474093G>A						ARHGEF38_ENST00000265154.2_Silent_p.R57R	p.R57R	NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN			1	315	+			57					C9JIB4	Silent	SNP	ENST00000420470.2	37	c.171G>A	CCDS56338.1																																																																																				0.458	ARHGEF38-001	PUTATIVE	basic|appris_principal|readthrough_transcript|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000336934.3	NM_017700		8	39	0	0	0	1	0	8	39				
TRAPPC9	83696	broad.mit.edu	37	8	141321414	141321414	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr8:141321414C>T	ENST00000438773.2	-	10	1688	c.1555G>A	c.(1555-1557)Gag>Aag	p.E519K	TRAPPC9_ENST00000389328.4_Missense_Mutation_p.E617K|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.E510K	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	519					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GCGATGGGCTCCATGGTCCCA	0.537																																						ENST00000389328.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(1849-1851)Gag>Aag		trafficking protein particle complex 9							99.0	96.0	97.0					8																	141321414		2203	4300	6503	SO:0001583	missense	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141321414C>T	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1555G>A	8.37:g.141321414C>T	ENSP00000405060:p.Glu519Lys					TRAPPC9_ENST00000389327.3_Missense_Mutation_p.E510K|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.E519K	p.E617K	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN			10	1863	-			519					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	c.1849G>A	CCDS55278.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.46|19.46	3.831734|3.831734	0.71258|0.71258	.|.	.|.	ENSG00000167632|ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773|ENST00000520857	.|.	.|.	.|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.046057|.	0.85682|.	D|.	0.000000|.	T|T	0.70098|0.70098	0.3185|0.3185	L|L	0.47716|0.47716	1.5|1.5	0.58432|0.58432	D|D	0.999998|0.999998	P;P;P|.	0.48998|.	0.918;0.692;0.646|.	B;B;B|.	0.43701|.	0.428;0.222;0.311|.	T|T	0.64449|0.64449	-0.6405|-0.6405	9|5	0.06099|.	T|.	0.92|.	.|.	19.7175|19.7175	0.96129|0.96129	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	519;510;617|.	Q96Q05;Q96Q05-3;Q96Q05-2|.	TPPC9_HUMAN;.;.|.	K|E	617;510;519|362	.|.	ENSP00000373978:E510K|.	E|G	-|-	1|2	0|0	TRAPPC9|TRAPPC9	141390596|141390596	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.690000|0.690000	0.40134|0.40134	4.925000|4.925000	0.63425|0.63425	2.831000|2.831000	0.97527|0.97527	0.650000|0.650000	0.86243|0.86243	GAG|GGA		0.537	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		9	71	0	0	0	1	0	9	71				
TPR	7175	broad.mit.edu	37	1	186292894	186292894	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:186292894G>A	ENST00000367478.4	-	43	6517	c.6221C>T	c.(6220-6222)cCg>cTg	p.P2074L		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2074					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGGGCGTCTCGGTGACTGAGG	0.502			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(6220-6222)cCg>cTg		translocated promoter region, nuclear basket protein							138.0	149.0	145.0					1																	186292894		1953	4168	6121	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186292894G>A	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.6221C>T	1.37:g.186292894G>A	ENSP00000356448:p.Pro2074Leu						p.P2074L	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	43	6517	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	2074					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.6221C>T	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.965699	0.92855	.	.	ENSG00000047410	ENST00000367478	T	0.28069	1.63	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.57315	0.2045	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.59742	-0.7397	10	0.87932	D	0	.	18.4446	0.90680	0.0:0.0:1.0:0.0	.	2074	P12270	TPR_HUMAN	L	2074	ENSP00000356448:P2074L	ENSP00000356448:P2074L	P	-	2	0	TPR	184559517	1.000000	0.71417	0.925000	0.36789	0.985000	0.73830	8.234000	0.89801	2.673000	0.90976	0.650000	0.86243	CCG		0.502	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		4	111	0	0	0	1	0	4	111				
PLD1	5337	broad.mit.edu	37	3	171338283	171338283	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr3:171338283G>T	ENST00000351298.4	-	24	2747	c.2621C>A	c.(2620-2622)tCa>tAa	p.S874*	PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000356327.5_Nonsense_Mutation_p.S836*|PLD1_ENST00000340989.4_Nonsense_Mutation_p.S874*	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	874	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACCACAGAATGATATGTAATT	0.313																																					NSCLC(149;2174 3517 34058)	ENST00000356327.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63						c.(2506-2508)tCa>tAa		phospholipase D1, phosphatidylcholine-specific	Choline(DB00122)						105.0	101.0	102.0					3																	171338283		2203	4300	6503	SO:0001587	stop_gained	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171338283G>T	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2621C>A	3.37:g.171338283G>T	ENSP00000342793:p.Ser874*					PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000351298.4_Nonsense_Mutation_p.S874*|PLD1_ENST00000340989.4_Nonsense_Mutation_p.S874*	p.S836*	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		23	2577	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		874			Catalytic.			Nonsense_Mutation	SNP	ENST00000351298.4	37	c.2507C>A	CCDS3216.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.702765|8.702765	0.98920|0.98920	.|.	.|.	ENSG00000075651|ENSG00000075651	ENST00000446289|ENST00000356327;ENST00000351298;ENST00000340989	.|.	.|.	.|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|0.119918	.|0.64402	.|D	.|0.000015	T|.	0.47210|.	0.1433|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37888|.	-0.9686|.	4|.	.|0.02654	.|T	.|1	-5.037|-5.037	19.1611|19.1611	0.93533|0.93533	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	N|X	137|836;874;874	.|.	.|ENSP00000340326:S874X	H|S	-|-	1|2	0|0	PLD1|PLD1	172820977|172820977	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	7.875000|7.875000	0.87205|0.87205	2.515000|2.515000	0.84797|0.84797	0.491000|0.491000	0.48974|0.48974	CAT|TCA		0.313	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		5	57	1	0	0.00116845	1	0.00120496	5	57				
CACNA1B	774	broad.mit.edu	37	9	140772598	140772598	+	Silent	SNP	C	C	G			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr9:140772598C>G	ENST00000371372.1	+	1	358	c.213C>G	c.(211-213)gtC>gtG	p.V71V	CACNA1B_ENST00000277551.2_Silent_p.V71V|CACNA1B_ENST00000371363.1_Silent_p.V71V|CACNA1B_ENST00000371355.4_Silent_p.V71V|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000371357.1_Silent_p.V71V|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	71					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GCTTCACCGTCAACCGCTCGC	0.662																																						ENST00000371372.1																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(211-213)gtC>gtG		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						29.0	35.0	33.0					9																	140772598		2078	4212	6290	SO:0001819	synonymous_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140772598C>G	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.213C>G	9.37:g.140772598C>G						CACNA1B_ENST00000371355.4_Silent_p.V71V|CACNA1B_ENST00000371357.1_Silent_p.V71V|CACNA1B_ENST00000371363.1_Silent_p.V71V|CACNA1B_ENST00000277551.2_Silent_p.V71V|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000277549.5_5'UTR	p.V71V	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	1	358	+	all_cancers(76;0.166)		71					B1AQK5	Silent	SNP	ENST00000371372.1	37	c.213C>G	CCDS59522.1																																																																																				0.662	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		3	22	0	0	0	1	0	3	22				
FUT3	2525	broad.mit.edu	37	19	5844507	5844507	+	Missense_Mutation	SNP	G	G	T	rs141188376		TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr19:5844507G>T	ENST00000303225.6	-	3	978	c.344C>A	c.(343-345)tCc>tAc	p.S115Y	FUT3_ENST00000458379.2_Missense_Mutation_p.S115Y|AC024592.9_ENST00000589276.1_RNA|FUT3_ENST00000589620.1_Missense_Mutation_p.S115Y|FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000589918.1_Missense_Mutation_p.S115Y	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	115					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CTTAGGGTTGGACATGATATC	0.622																																					Esophageal Squamous(82;745 1728 24593 44831)	ENST00000303225.6																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						c.(343-345)tCc>tAc		fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)		T	TYR/SER,TYR/SER,TYR/SER,TYR/SER	0,4406		0,0,2203	153.0	123.0	133.0		344,344,344,344	-4.5	0.0	19	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	FUT3	NM_000149.3,NM_001097639.1,NM_001097640.1,NM_001097641.1	144,144,144,144	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	115/362,115/362,115/362,115/362	5844507	1,13005	2203	4300	6503	SO:0001583	missense	2525				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity	g.chr19:5844507G>T		CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"""CD molecules"", ""Blood group antigens"", ""Fucosyltransferases"""	4014	protein-coding gene	gene with protein product		111100	"""fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"""	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.344C>A	19.37:g.5844507G>T	ENSP00000305603:p.Ser115Tyr					FUT3_ENST00000458379.2_Missense_Mutation_p.S115Y|FUT3_ENST00000589620.1_Missense_Mutation_p.S115Y|FUT3_ENST00000589918.1_Missense_Mutation_p.S115Y	p.S115Y	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN			3	978	-			115					B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	ENST00000303225.6	37	c.344C>A	CCDS12153.1	.	.	.	.	.	.	.	.	.	.	g	0.005	-2.199555	0.00299	0.0	1.16E-4	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.25085	1.82;1.82	2.23	-4.47	0.03525	.	3.020940	0.01462	N	0.015924	T	0.07458	0.0188	N	0.01473	-0.845	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.003;0.003;0.003	T	0.14448	-1.0472	10	0.14656	T	0.56	.	1.8746	0.03216	0.1313:0.1478:0.1942:0.5267	.	115;115;115;115	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	Y	115	ENSP00000305603:S115Y;ENSP00000416443:S115Y	ENSP00000305603:S115Y	S	-	2	0	FUT3	5795507	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-5.508000	0.00117	-1.013000	0.03383	-1.043000	0.02367	TCC		0.622	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149		15	111	1	0	7.93312e-07	1	8.66864e-07	15	111				
ZNF132	7691	broad.mit.edu	37	19	58944698	58944698	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr19:58944698G>T	ENST00000254166.3	-	3	2513	c.2113C>A	c.(2113-2115)Cat>Aat	p.H705N	CTD-2619J13.17_ENST00000594816.1_lincRNA	NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	705					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		ACTCAGGTATGAATCTTTTTA	0.433																																						ENST00000254166.3																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(2113-2115)Cat>Aat		zinc finger protein 132							99.0	97.0	97.0					19																	58944698		2203	4300	6503	SO:0001583	missense	7691					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58944698G>T	U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"""Zinc fingers, C2H2-type"", ""-"""	12916	protein-coding gene	gene with protein product		604074	"""zinc finger protein 132 (clone pHZ-12)"""			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.2113C>A	19.37:g.58944698G>T	ENSP00000254166:p.His705Asn						p.H705N	NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)	3	2513	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	705					Q32MI9	Missense_Mutation	SNP	ENST00000254166.3	37	c.2113C>A	CCDS12980.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.439727	0.25900	.	.	ENSG00000131849	ENST00000254166	D	0.88818	-2.43	3.05	1.85	0.25348	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93664	0.7976	H	0.96518	3.835	0.21445	N	0.999681	D	0.57571	0.98	P	0.54401	0.751	D	0.85784	0.1363	9	0.87932	D	0	.	5.0998	0.14753	0.1265:0.2181:0.6554:0.0	.	705	P52740	ZN132_HUMAN	N	705	ENSP00000254166:H705N	ENSP00000254166:H705N	H	-	1	0	ZNF132	63636510	0.981000	0.34729	0.009000	0.14445	0.553000	0.35397	3.977000	0.56874	1.419000	0.47118	0.650000	0.86243	CAT		0.433	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	NM_003433		19	105	1	0	4.96729e-08	1	5.46402e-08	19	105				
REG1P	5969	broad.mit.edu	37	2	79363180	79363180	+	RNA	SNP	C	C	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr2:79363180C>A	ENST00000444841.1	-	0	1158									regenerating islet-derived 1 pseudogene																		CAGGGACCCACTACTCCACTG	0.532																																						ENST00000444841.1																			0																																																			5969							g.chr2:79363180C>A			2p12	2008-06-04	2008-06-04	2008-06-04	ENSG00000204787	ENSG00000204787			9953	pseudogene	pseudogene			"""rat regenerating islet-derived-like, human homolog (pancreatic stone protein-like, pancreatic thread protein-like)"", ""regenerating islet-derived-like, pancreatic stone protein-like, pancreatic thread protein-like (rat)"""	REGL		8333731	Standard	NR_002714		Approved	RS	uc002soc.1		OTTHUMG00000152978		2.37:g.79363180C>A														0	1158	-									RNA	SNP	ENST00000444841.1	37																																																																																						0.532	REG1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328851.1	NR_002714		3	24	1	0	0.004672	1	0.00478807	3	24				
C19orf35	374872	broad.mit.edu	37	19	2276297	2276297	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr19:2276297C>G	ENST00000342063.3	-	4	897	c.804G>C	c.(802-804)gaG>gaC	p.E268D		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	268										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGTGCAGGCCTCCGCCAGCC	0.741																																						ENST00000342063.3																			0				large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8						c.(802-804)gaG>gaC		chromosome 19 open reading frame 35							5.0	6.0	6.0					19																	2276297		1976	3942	5918	SO:0001583	missense	374872							g.chr19:2276297C>G	AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.804G>C	19.37:g.2276297C>G	ENSP00000345102:p.Glu268Asp						p.E268D	NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	897	-			268						Missense_Mutation	SNP	ENST00000342063.3	37	c.804G>C	CCDS12087.1	.	.	.	.	.	.	.	.	.	.	C	9.430	1.085266	0.20390	.	.	ENSG00000188305	ENST00000342063	T	0.20069	2.1	2.52	2.52	0.30459	.	.	.	.	.	T	0.22282	0.0537	L	0.34521	1.04	0.09310	N	1	D	0.61697	0.99	P	0.53146	0.719	T	0.09530	-1.0670	9	0.18276	T	0.48	.	9.7083	0.40229	0.0:1.0:0.0:0.0	.	268	Q6ZS72	CS035_HUMAN	D	268	ENSP00000345102:E268D	ENSP00000345102:E268D	E	-	3	2	C19orf35	2227297	0.000000	0.05858	0.112000	0.21494	0.047000	0.14425	-0.566000	0.05922	1.242000	0.43836	0.561000	0.74099	GAG		0.741	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	NM_198532		3	12	0	0	0	1	0	3	12				
BRCA2	675	broad.mit.edu	37	13	32893410	32893410	+	Silent	SNP	G	G	A	rs80359341		TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr13:32893410G>A	ENST00000380152.3	+	3	497	c.264G>A	c.(262-264)ctG>ctA	p.L88L	BRCA2_ENST00000544455.1_Silent_p.L88L			P51587	BRCA2_HUMAN	breast cancer 2, early onset	88					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GGCTGACTCTGCCGCTGTACC	0.363			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(262-264)ctG>ctA	Homologous recombination	breast cancer 2, early onset							53.0	57.0	56.0					13																	32893410		2203	4300	6503	SO:0001819	synonymous_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32893410G>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.264G>A	13.37:g.32893410G>A		TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Silent_p.L88L	p.L88L	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	3	491	+		Lung SC(185;0.0262)	88					O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	ENST00000380152.3	37	c.264G>A	CCDS9344.1																																																																																				0.363	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		12	53	0	0	0	1	0	12	53				
LRP1B	53353	broad.mit.edu	37	2	141272298	141272298	+	Silent	SNP	T	T	C			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr2:141272298T>C	ENST00000389484.3	-	51	9164	c.8193A>G	c.(8191-8193)aaA>aaG	p.K2731K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2731	LDL-receptor class A 16. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAGAAATACATTTTTGTGCGG	0.378										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(8191-8193)aaA>aaG		low density lipoprotein receptor-related protein 1B							112.0	105.0	107.0					2																	141272298		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141272298T>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8193A>G	2.37:g.141272298T>C		TSP Lung(27;0.18)					p.K2731K	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	51	9164	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2731			LDL-receptor class A 16.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.8193A>G	CCDS2182.1																																																																																				0.378	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		14	61	0	0	0	1	0	14	61				
TNNT3	7140	broad.mit.edu	37	11	1959683	1959683	+	Silent	SNP	G	G	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr11:1959683G>A	ENST00000397301.1	+	17	779	c.771G>A	c.(769-771)ggG>ggA	p.G257G	TNNT3_ENST00000278317.6_Silent_p.G246G|TNNT3_ENST00000381549.3_Silent_p.G238G|TNNT3_ENST00000381561.4_Silent_p.G249G|TNNT3_ENST00000381589.3_Silent_p.G244G|TNNT3_ENST00000381579.3_Silent_p.G238G|TNNT3_ENST00000381558.1_Silent_p.G238G|TNNT3_ENST00000397304.2_Silent_p.G227G|TNNT3_ENST00000360603.3_Silent_p.G240G|TNNT3_ENST00000446240.1_Silent_p.G227G|TNNT3_ENST00000381548.3_Silent_p.G248G			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	257					ATP catabolic process (GO:0006200)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of striated muscle contraction (GO:0006942)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium-dependent protein binding (GO:0048306)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		AGAAGGCTGGGACCCCAGCCA	0.662																																						ENST00000381558.1																			0				breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19						c.(712-714)ggG>ggA		troponin T type 3 (skeletal, fast)							49.0	59.0	55.0					11																	1959683		2202	4299	6501	SO:0001819	synonymous_variant	7140				muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr11:1959683G>A	M21984	CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130595	ENSG00000130595			11950	protein-coding gene	gene with protein product	"""troponin-T3, skeletal, fast"""	600692	"""troponin T3, skeletal, fast"""			8172653	Standard	NM_001042782		Approved	AMCD2B, DA2B, FSSV, DKFZp779M2348	uc001lup.4	P45378	OTTHUMG00000012475	ENST00000397301.1:c.771G>A	11.37:g.1959683G>A						TNNT3_ENST00000381548.3_Silent_p.G248G|TNNT3_ENST00000381549.3_Silent_p.G238G|TNNT3_ENST00000381579.3_Silent_p.G238G|TNNT3_ENST00000360603.3_Silent_p.G240G|TNNT3_ENST00000278317.6_Silent_p.G246G|TNNT3_ENST00000397304.2_Silent_p.G227G|TNNT3_ENST00000446240.1_Silent_p.G227G|TNNT3_ENST00000397301.1_Silent_p.G257G|TNNT3_ENST00000381589.3_Silent_p.G244G|TNNT3_ENST00000381561.4_Silent_p.G249G	p.G238G			P45378	TNNT3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)	15	993	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	257					A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	Silent	SNP	ENST00000397301.1	37	c.714G>A																																																																																					0.662	TNNT3-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000142920.3	NM_006757		25	82	0	0	0	1	0	25	82				
LENG9	94059	broad.mit.edu	37	19	54973383	54973383	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr19:54973383C>G	ENST00000333834.4	-	1	1511	c.1393G>C	c.(1393-1395)Gag>Cag	p.E465Q		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	465							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		AGGGTGAACTCCAGCTTGGGG	0.652																																						ENST00000333834.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11						c.(1393-1395)Gag>Cag		leukocyte receptor cluster (LRC) member 9							57.0	62.0	60.0					19																	54973383		2203	4300	6503	SO:0001583	missense	94059				RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding	g.chr19:54973383C>G	AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.1393G>C	19.37:g.54973383C>G	ENSP00000331647:p.Glu465Gln						p.E465Q	NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN		GBM - Glioblastoma multiforme(193;0.134)	1	1511	-	Ovarian(34;0.19)		465					B2VAM3	Missense_Mutation	SNP	ENST00000333834.4	37	c.1393G>C	CCDS12895.2	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107056	0.37145	.	.	ENSG00000182909	ENST00000333834	T	0.32753	1.44	4.84	2.7	0.31948	RNA ligase/cyclic nucleotide phosphodiesterase (1);	0.582348	0.17621	U	0.167705	T	0.31949	0.0813	L	0.36672	1.1	0.09310	N	1	D	0.55172	0.97	P	0.56563	0.801	T	0.10965	-1.0607	10	0.15952	T	0.53	-7.2097	7.7079	0.28661	0.0:0.8014:0.0:0.1986	.	465	Q96B70	LENG9_HUMAN	Q	465	ENSP00000331647:E465Q	ENSP00000331647:E465Q	E	-	1	0	LENG9	59665195	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.208000	0.09371	0.571000	0.29365	0.561000	0.74099	GAG		0.652	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140806.3	NM_198988		22	118	0	0	0	1	0	22	118				
C3AR1	719	broad.mit.edu	37	12	8212660	8212660	+	Missense_Mutation	SNP	T	T	G			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr12:8212660T>G	ENST00000307637.4	-	2	325	c.122A>C	c.(121-123)aAt>aCt	p.N41T		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	41					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		CACCAGCCCATTGCCTGGCAA	0.537																																						ENST00000307637.4																			0				breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20						c.(121-123)aAt>aCt		complement component 3a receptor 1							76.0	73.0	74.0					12																	8212660		2203	4300	6503	SO:0001583	missense	719				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	g.chr12:8212660T>G	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.122A>C	12.37:g.8212660T>G	ENSP00000302079:p.Asn41Thr						p.N41T	NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	2	325	-			41					O43771|Q92868	Missense_Mutation	SNP	ENST00000307637.4	37	c.122A>C	CCDS8588.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.596759	0.86953	.	.	ENSG00000171860	ENST00000307637;ENST00000546241	D;D	0.96619	-4.07;-4.07	5.67	5.67	0.87782	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	D	0.99036	0.9670	H	0.99516	4.605	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.98888	1.0772	10	0.87932	D	0	.	13.8672	0.63596	0.0:0.0:0.0:1.0	.	41	Q16581	C3AR_HUMAN	T	41	ENSP00000302079:N41T;ENSP00000444500:N41T	ENSP00000302079:N41T	N	-	2	0	C3AR1	8103927	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.967000	0.87967	2.159000	0.67721	0.397000	0.26171	AAT		0.537	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			18	80	0	0	0	1	0	18	80				
TUT1	64852	broad.mit.edu	37	11	62348581	62348581	+	Silent	SNP	G	G	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr11:62348581G>A	ENST00000476907.1	-	4	1378	c.687C>T	c.(685-687)ccC>ccT	p.P229P	MIR3654_ENST00000496634.2_Silent_p.P229P|TUT1_ENST00000308436.7_Silent_p.P267P			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	229	Pro-rich.				mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CACTCACCTGGGGCTCTTCCA	0.522																																						ENST00000496634.2																			0				NS(1)	1						c.(685-687)ccC>ccT									107.0	102.0	103.0					11																	62348581		2202	4299	6501	SO:0001819	synonymous_variant	100500804							g.chr11:62348581G>A	BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"""RNA binding motif (RRM) containing"""	26184	protein-coding gene	gene with protein product	"""RNA uridylyltransferase"", ""U6 TUTase"", ""TUTase 6"""	610641	"""RNA binding motif protein 21"""	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.687C>T	11.37:g.62348581G>A						TUT1_ENST00000476907.1_Silent_p.P229P|TUT1_ENST00000308436.7_Silent_p.P267P	p.P229P							4	732	-								A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Silent	SNP	ENST00000476907.1	37	c.687C>T																																																																																					0.522	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000351319.2	NM_022830		22	111	0	0	0	1	0	22	111				
SEZ6	124925	broad.mit.edu	37	17	27308504	27308504	+	Silent	SNP	G	G	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr17:27308504G>A	ENST00000317338.12	-	2	1037	c.609C>T	c.(607-609)ggC>ggT	p.G203G	SEZ6_ENST00000442608.3_Silent_p.G203G|SEZ6_ENST00000360295.9_Silent_p.G203G|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Silent_p.G203G			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	203					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CGATCCCTGCGCCCTGGGACA	0.602																																						ENST00000317338.12																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29						c.(607-609)ggC>ggT		seizure related 6 homolog (mouse)							29.0	34.0	33.0					17																	27308504		2128	4252	6380	SO:0001819	synonymous_variant	124925					integral to membrane|plasma membrane		g.chr17:27308504G>A	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.609C>T	17.37:g.27308504G>A						SEZ6_ENST00000335960.6_Silent_p.G203G|SEZ6_ENST00000442608.3_Silent_p.G203G|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000360295.9_Silent_p.G203G	p.G203G			Q53EL9	SEZ6_HUMAN	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		2	1037	-	Lung NSC(42;0.0137)		203					B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Silent	SNP	ENST00000317338.12	37	c.609C>T	CCDS45639.1																																																																																				0.602	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			3	16	0	0	0	1	0	3	16				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000567960.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																197331							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000564451.1_RNA								0	1249	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	141	0	0	0	1	0	4	141				
CNTNAP5	129684	broad.mit.edu	37	2	125192141	125192141	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr2:125192141G>A	ENST00000431078.1	+	5	974	c.610G>A	c.(610-612)Gtg>Atg	p.V204M		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	204	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCTCAAAGATGTGATCTCCCT	0.493																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(610-612)Gtg>Atg		contactin associated protein-like 5							120.0	116.0	117.0					2																	125192141		2023	4206	6229	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125192141G>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.610G>A	2.37:g.125192141G>A	ENSP00000399013:p.Val204Met						p.V204M	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	5	974	+			204			Laminin G-like 1.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.610G>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892626	0.72524	.	.	ENSG00000155052	ENST00000431078	T	0.79352	-1.26	5.48	5.48	0.80851	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.161338	0.28317	N	0.015791	T	0.74839	0.3769	L	0.55103	1.725	0.80722	D	1	B	0.28026	0.198	B	0.22753	0.041	T	0.72673	-0.4222	10	0.48119	T	0.1	.	18.3591	0.90368	0.0:0.0:1.0:0.0	.	204	Q8WYK1	CNTP5_HUMAN	M	204	ENSP00000399013:V204M	ENSP00000399013:V204M	V	+	1	0	CNTNAP5	124908611	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.687000	0.98667	2.576000	0.86940	0.655000	0.94253	GTG		0.493	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			8	67	0	0	0	1	0	8	67				
CTC-260E6.6	0	broad.mit.edu	37	19	20369553	20369553	+	RNA	SNP	G	G	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr19:20369553G>A	ENST00000593655.1	-	0	199																											CCCAGTATTAGAAGGCTTTTC	0.448																																						ENST00000593655.1																			0																																																			0							g.chr19:20369553G>A																													19.37:g.20369553G>A														0	199	-									RNA	SNP	ENST00000593655.1	37																																																																																						0.448	CTC-260E6.6-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462901.1			8	76	0	0	0	1	0	8	76				
MUC5B	727897	broad.mit.edu	37	11	1263911	1263911	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr11:1263911C>T	ENST00000529681.1	+	31	5859	c.5801C>T	c.(5800-5802)cCc>cTc	p.P1934L	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.P1937L	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1934	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			PPPKVLT -> GTPHVS (in Ref. 4; CAA96577). {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)		AGAACAGCTCCCCCTCCCAAA	0.642																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(5809-5811)cCc>cTc		mucin 5B, oligomeric mucus/gel-forming							129.0	161.0	150.0					11																	1263911		2171	4249	6420	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1263911C>T	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.5801C>T	11.37:g.1263911C>T	ENSP00000436812:p.Pro1934Leu					MUC5B_ENST00000529681.1_Missense_Mutation_p.P1934L|RP11-532E4.2_ENST00000532061.2_RNA	p.P1937L			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	5868	+		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)	1934	PPPKVLT -> GTPHVS (in Ref. 4; CAA96577).		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	Missense_Mutation	SNP	ENST00000529681.1	37	c.5810C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	1.403	-0.577667	0.03854	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.17213	2.29;2.49	.	.	.	.	.	.	.	.	T	0.05273	0.0140	N	0.08118	0	0.09310	N	1	B;P	0.47604	0.012;0.898	B;B	0.31869	0.001;0.137	T	0.27297	-1.0078	7	0.87932	D	0	.	.	.	.	.	2627;1937	A7Y9J9;E9PBJ0	.;.	L	1934;1937;1935;2004	ENSP00000436812:P1934L;ENSP00000415793:P1937L	ENSP00000343037:P1935L	P	+	2	0	MUC5B	1220487	0.000000	0.05858	0.003000	0.11579	0.183000	0.23260	-0.325000	0.07976	-0.829000	0.04268	0.074000	0.15403	CCC		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		38	153	0	0	0	1	0	38	153				
KCTD7	154881	broad.mit.edu	37	7	66103260	66103260	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr7:66103260G>A	ENST00000275532.3	+	3	519	c.335G>A	c.(334-336)cGc>cAc	p.R112H	KCTD7_ENST00000443322.1_Missense_Mutation_p.R112H	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	112	BTB.				cell death (GO:0008219)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.R112H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						AATTTCCTGCGCTCAGGGGAC	0.567																																						ENST00000275532.3																			1	Substitution - Missense(1)	p.R112H(1)	lung(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						c.(334-336)cGc>cAc		potassium channel tetramerization domain containing 7							104.0	97.0	99.0					7																	66103260		2203	4300	6503	SO:0001583	missense	154881					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr7:66103260G>A	AK056631	CCDS5534.1, CCDS55117.1	7q11.21	2014-09-17	2013-06-20		ENSG00000243335	ENSG00000243335			21957	protein-coding gene	gene with protein product		611725	"""potassium channel tetramerisation domain containing 7"""			12477932	Standard	NM_001167961		Approved	FLJ32069, EPM3, CLN14	uc003tve.3	Q96MP8	OTTHUMG00000129543	ENST00000275532.3:c.335G>A	7.37:g.66103260G>A	ENSP00000275532:p.Arg112His					KCTD7_ENST00000443322.1_Missense_Mutation_p.R112H	p.R112H	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN			3	519	+			112			BTB.		A4D2M4|Q8IVR0	Missense_Mutation	SNP	ENST00000275532.3	37	c.335G>A	CCDS5534.1	.	.	.	.	.	.	.	.	.	.	g	35	5.437252	0.96168	.	.	ENSG00000243335	ENST00000275532;ENST00000443322	T;T	0.55760	0.5;0.5	5.61	5.61	0.85477	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	.	.	.	.	T	0.81254	0.4784	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86202	0.1619	9	0.87932	D	0	.	18.6402	0.91393	0.0:0.0:1.0:0.0	.	112	Q96MP8	KCTD7_HUMAN	H	112	ENSP00000275532:R112H;ENSP00000411624:R112H	ENSP00000275532:R112H	R	+	2	0	KCTD7	65740695	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.152000	0.94680	2.656000	0.90262	0.561000	0.74099	CGC		0.567	KCTD7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251733.2	NM_153033		12	97	0	0	0	1	0	12	97				
SLC27A4	10999	broad.mit.edu	37	9	131107581	131107581	+	Silent	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr9:131107581C>T	ENST00000300456.4	+	3	426	c.309C>T	c.(307-309)acC>acT	p.T103T	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	103					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						CCCACTGGACCTTCCGCCAGC	0.622																																					Pancreas(107;1554 2241 10946 12953)	ENST00000300456.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						c.(307-309)acC>acT		solute carrier family 27 (fatty acid transporter), member 4							81.0	63.0	69.0					9																	131107581		2203	4300	6503	SO:0001819	synonymous_variant	10999				long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	g.chr9:131107581C>T	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.309C>T	9.37:g.131107581C>T						SLC27A4_ENST00000372870.1_Intron	p.T103T	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN			3	426	+			103					A8K2F7|O95186|Q96G53	Silent	SNP	ENST00000300456.4	37	c.309C>T	CCDS6899.1																																																																																				0.622	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2			9	48	0	0	0	1	0	9	48				
KIAA0895L	653319	broad.mit.edu	37	16	67214239	67214239	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr16:67214239C>T	ENST00000290881.7	-	3	1201	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.R92Q|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.R92Q			Q68EN5	K895L_HUMAN	KIAA0895-like	92										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GCCACGCCCCCGCCGGCCAGT	0.667																																						ENST00000290881.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						c.(274-276)cGg>cAg		KIAA0895-like							18.0	23.0	21.0					16																	67214239		1931	4109	6040	SO:0001583	missense	653319							g.chr16:67214239C>T	AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.275G>A	16.37:g.67214239C>T	ENSP00000290881:p.Arg92Gln					KIAA0895L_ENST00000561621.1_Missense_Mutation_p.R92Q|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.R92Q|KIAA0895L_ENST00000563831.2_Intron	p.R92Q			Q68EN5	K895L_HUMAN			3	1201	-			92					A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Missense_Mutation	SNP	ENST00000290881.7	37	c.275G>A	CCDS42177.1	.	.	.	.	.	.	.	.	.	.	C	9.650	1.141317	0.21205	.	.	ENSG00000196123	ENST00000290881	.	.	.	4.6	-1.49	0.08718	.	0.624751	0.14290	N	0.328980	T	0.24661	0.0598	L	0.47716	1.5	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.19647	-1.0299	9	0.12766	T	0.61	-5.2499	1.6531	0.02775	0.1424:0.4296:0.14:0.288	.	92;92	Q68EN5-2;Q68EN5	.;K895L_HUMAN	Q	92	.	ENSP00000290881:R92Q	R	-	2	0	KIAA0895L	65771740	0.000000	0.05858	0.001000	0.08648	0.159000	0.22180	-0.531000	0.06171	-0.028000	0.13850	-0.145000	0.13849	CGG		0.667	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715		9	23	0	0	0	1	0	9	23				
C5orf15	56951	broad.mit.edu	37	5	133295400	133295400	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr5:133295400G>A	ENST00000231512.3	-	2	653	c.451C>T	c.(451-453)Cca>Tca	p.P151S	C5orf15_ENST00000507191.1_5'UTR	NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	chromosome 5 open reading frame 15	151						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			TCATAGTCTGGTTCTCCATAA	0.473																																						ENST00000231512.3																			0				endometrium(2)|large_intestine(1)|lung(1)	4						c.(451-453)Cca>Tca		chromosome 5 open reading frame 15							126.0	110.0	116.0					5																	133295400		2203	4300	6503	SO:0001583	missense	56951					integral to membrane		g.chr5:133295400G>A	AF226055	CCDS4167.1	5q31.1	2012-02-22			ENSG00000113583	ENSG00000113583			20656	protein-coding gene	gene with protein product	"""keratinocytes associated transmembrane protein 2"""						Standard	NM_020199		Approved	KCT2, HTGN29	uc003kyo.3	Q8NC54	OTTHUMG00000129125	ENST00000231512.3:c.451C>T	5.37:g.133295400G>A	ENSP00000231512:p.Pro151Ser					C5orf15_ENST00000507191.1_5'UTR	p.P151S	NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		2	653	-			151					B2RD10|D3DQ92|Q9NRG2	Missense_Mutation	SNP	ENST00000231512.3	37	c.451C>T	CCDS4167.1	.	.	.	.	.	.	.	.	.	.	G	7.846	0.723051	0.15439	.	.	ENSG00000113583	ENST00000231512;ENST00000451255	.	.	.	5.52	0.479	0.16796	.	0.946774	0.08826	N	0.888007	T	0.28830	0.0715	L	0.47716	1.5	0.09310	N	1	B	0.17667	0.023	B	0.15484	0.013	T	0.28933	-1.0028	9	0.17369	T	0.5	-2.0344	1.834	0.03136	0.2416:0.1402:0.4739:0.1443	.	151	Q8NC54	KCT2_HUMAN	S	151;51	.	ENSP00000231512:P151S	P	-	1	0	C5orf15	133323299	0.000000	0.05858	0.179000	0.23059	0.185000	0.23345	-0.269000	0.08596	0.011000	0.14865	0.655000	0.94253	CCA		0.473	C5orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251175.1	NM_020199		14	40	0	0	0	1	0	14	40				
PCDHB11	56125	broad.mit.edu	37	5	140580049	140580049	+	Silent	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr5:140580049C>T	ENST00000354757.3	+	1	702	c.702C>T	c.(700-702)gaC>gaT	p.D234D	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	234	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTTGTGGACATTAATGACA	0.507																																						ENST00000354757.3																			0				NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63						c.(700-702)gaC>gaT									132.0	133.0	132.0					5																	140580049		2203	4300	6503	SO:0001819	synonymous_variant	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140580049C>T	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.702C>T	5.37:g.140580049C>T						PCDHB11_ENST00000536699.1_Intron	p.D234D	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	702	+			234			Cadherin 2.		B4DSF7|Q2M223	Silent	SNP	ENST00000354757.3	37	c.702C>T	CCDS4253.1																																																																																				0.507	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		28	111	0	0	0	1	0	28	111				
FAT1	2195	broad.mit.edu	37	4	187539163	187539163	+	Silent	SNP	G	G	C			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr4:187539163G>C	ENST00000441802.2	-	10	8786	c.8577C>G	c.(8575-8577)tcC>tcG	p.S2859S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2859	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TAATGGCAAAGGATTCAATGA	0.413										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(8575-8577)tcC>tcG		FAT atypical cadherin 1							149.0	133.0	138.0					4																	187539163		1940	4155	6095	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187539163G>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8577C>G	4.37:g.187539163G>C		HNSCC(5;0.00058)					p.S2859S	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	8786	-			2859			Cadherin 26.			Silent	SNP	ENST00000441802.2	37	c.8577C>G	CCDS47177.1																																																																																				0.413	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		20	67	0	0	0	1	0	20	67				
ZBTB32	27033	broad.mit.edu	37	19	36205627	36205627	+	Silent	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr19:36205627C>T	ENST00000392197.2	+	3	417	c.99C>T	c.(97-99)atC>atT	p.I33I	ZBTB32_ENST00000262630.3_Silent_p.I33I			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	33	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				DNA repair (GO:0006281)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cytokine production (GO:0001817)|T cell proliferation (GO:0042098)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATACTCTGATCACCGTAGGGA	0.642																																						ENST00000392197.2																			0				large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14						c.(97-99)atC>atT		zinc finger and BTB domain containing 32							52.0	57.0	56.0					19																	36205627		2203	4300	6503	SO:0001819	synonymous_variant	27033				DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:36205627C>T	AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16763	protein-coding gene	gene with protein product	"""repressor of GATA"""	605859				10572087	Standard	XM_005258739		Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.99C>T	19.37:g.36205627C>T						ZBTB32_ENST00000262630.3_Silent_p.I33I	p.I33I			Q9Y2Y4	ZBT32_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	417	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		33			BTB.		Q8WVP2	Silent	SNP	ENST00000392197.2	37	c.99C>T	CCDS12471.1																																																																																				0.642	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109491.3	NM_014383		13	120	0	0	0	1	0	13	120				
CASP8	841	broad.mit.edu	37	2	202149674	202149674	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr2:202149674G>A	ENST00000432109.2	+	9	1127	c.938G>A	c.(937-939)tGt>tAt	p.C313Y	CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Missense_Mutation_p.C330Y|CASP8_ENST00000358485.4_Missense_Mutation_p.C372Y|CASP8_ENST00000323492.7_Missense_Mutation_p.C298Y|CASP8_ENST00000264274.9_Missense_Mutation_p.C229Y	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	313					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TTCATCTGCTGTATCCTCTCC	0.483										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(1114-1116)tGt>tAt		caspase 8, apoptosis-related cysteine peptidase							182.0	153.0	163.0					2																	202149674		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202149674G>A	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.938G>A	2.37:g.202149674G>A	ENSP00000412523:p.Cys313Tyr	HNSCC(4;0.00038)				CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Missense_Mutation_p.C330Y|CASP8_ENST00000432109.2_Missense_Mutation_p.C313Y|CASP8_ENST00000323492.7_Missense_Mutation_p.C298Y|CASP8_ENST00000264274.9_Missense_Mutation_p.C229Y	p.C372Y	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			8	1311	+			313					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.1115G>A	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732941	0.89482	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	T;T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28;2.28;2.28	5.68	5.68	0.88126	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.000000	0.85682	D	0.000000	T	0.53916	0.1826	M	0.91663	3.23	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.996;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.992;0.989;0.995;0.994	T	0.63479	-0.6628	10	0.87932	D	0	.	19.7761	0.96393	0.0:0.0:1.0:0.0	.	229;372;313;298;330	Q14790-3;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;CASP8_HUMAN;.;.	Y	298;229;313;330;372;298;92	ENSP00000376091:C298Y;ENSP00000264274:C229Y;ENSP00000412523:C313Y;ENSP00000264275:C330Y;ENSP00000351273:C372Y;ENSP00000325722:C298Y;ENSP00000394434:C92Y	ENSP00000264274:C229Y	C	+	2	0	CASP8	201857919	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.687000	0.91594	0.561000	0.74099	TGT		0.483	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		36	119	0	0	0	1	0	36	119				
FAM160A2	84067	broad.mit.edu	37	11	6233034	6233034	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr11:6233034G>A	ENST00000449352.2	-	12	2884	c.2621C>T	c.(2620-2622)gCc>gTc	p.A874V	FAM160A2_ENST00000265978.4_Missense_Mutation_p.A888V|FAM160A2_ENST00000529360.1_5'UTR			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	874					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGCCTGCCGGGCCCTGGTTGG	0.607																																						ENST00000265978.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2662-2664)gCc>gTc		family with sequence similarity 160, member A2							85.0	96.0	93.0					11																	6233034		2200	4296	6496	SO:0001583	missense	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6233034G>A		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.2621C>T	11.37:g.6233034G>A	ENSP00000416918:p.Ala874Val					FAM160A2_ENST00000449352.2_Missense_Mutation_p.A874V|FAM160A2_ENST00000529360.1_5'UTR	p.A888V	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN			12	3021	-			874					Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	c.2663C>T	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.382474	0.42207	.	.	ENSG00000051009	ENST00000449352;ENST00000265978	T;T	0.09163	3.01;3.01	5.29	4.38	0.52667	.	0.176719	0.48286	N	0.000188	T	0.13884	0.0336	L	0.52573	1.65	0.80722	D	1	B;P	0.36633	0.427;0.562	B;B	0.41036	0.188;0.346	T	0.05084	-1.0907	10	0.30078	T	0.28	-8.0E-4	12.678	0.56906	0.0808:0.0:0.9192:0.0	.	874;888	Q8N612;Q8N612-2	F16A2_HUMAN;.	V	874;888	ENSP00000416918:A874V;ENSP00000265978:A888V	ENSP00000265978:A888V	A	-	2	0	FAM160A2	6189610	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.141000	0.77330	1.235000	0.43724	0.650000	0.86243	GCC		0.607	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		5	242	0	0	0	1	0	5	242				
GTSE1	51512	broad.mit.edu	37	22	46704348	46704348	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr22:46704348G>A	ENST00000454366.1	+	4	482	c.270G>A	c.(268-270)tgG>tgA	p.W90*		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	71					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CCTTTGCCTGGAGCCCTCTGG	0.527																																					GBM(153;542 1915 12487 29016 50495)	ENST00000454366.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27						c.(268-270)tgG>tgA		G-2 and S-phase expressed 1							96.0	107.0	103.0					22																	46704348		2203	4300	6503	SO:0001587	stop_gained	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46704348G>A	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.270G>A	22.37:g.46704348G>A	ENSP00000415430:p.Trp90*						p.W90*	NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	4	482	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	71					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Nonsense_Mutation	SNP	ENST00000454366.1	37	c.270G>A	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	G	38	6.649395	0.97734	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	.	.	.	5.74	5.74	0.90152	.	0.107981	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.8829	19.5244	0.95197	0.0:0.0:1.0:0.0	.	.	.	.	X	90;50	.	ENSP00000354634:W50X	W	+	3	0	GTSE1	45083012	1.000000	0.71417	0.989000	0.46669	0.741000	0.42261	6.511000	0.73733	2.700000	0.92200	0.655000	0.94253	TGG		0.527	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		17	177	0	0	0	1	0	17	177				
RPE65	6121	broad.mit.edu	37	1	68896860	68896860	+	Splice_Site	SNP	C	C	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:68896860C>A	ENST00000262340.5	-	13	1392		c.e13-1			NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa						cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						GCTTACAGAGCTGTTTGTGAG	0.373																																						ENST00000262340.5																			0				central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						c.e13-1		retinal pigment epithelium-specific protein 65kDa							58.0	60.0	59.0					1																	68896860		2203	4300	6503	SO:0001630	splice_region_variant	6121				visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	g.chr1:68896860C>A	U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.1339-1G>T	1.37:g.68896860C>A								NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN			13	1392	-								A8K1L0|Q5T9U3	Splice_Site	SNP	ENST00000262340.5	37		CCDS643.1	.	.	.	.	.	.	.	.	.	.	C	9.992	1.231197	0.22626	.	.	ENSG00000116745	ENST00000262340	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0927	0.65002	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RPE65	68669448	1.000000	0.71417	0.999000	0.59377	0.323000	0.28346	7.410000	0.80065	2.412000	0.81896	0.555000	0.69702	.		0.373	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329	Intron	4	35	1	0	0.00909568	1	0.00915114	4	35				
EPHA5	2044	broad.mit.edu	37	4	66217121	66217121	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr4:66217121C>A	ENST00000273854.3	-	14	3094	c.2494G>T	c.(2494-2496)Gcc>Tcc	p.A832S	EPHA5_ENST00000354839.4_Missense_Mutation_p.A810S|EPHA5_ENST00000432638.2_Missense_Mutation_p.A669S|EPHA5_ENST00000511294.1_Missense_Mutation_p.A833S	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	832	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GTGGTGTAGGCTGCCTCGGGA	0.408										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(2494-2496)Gcc>Tcc		EPH receptor A5							108.0	101.0	103.0					4																	66217121		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66217121C>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2494G>T	4.37:g.66217121C>A	ENSP00000273854:p.Ala832Ser	TSP Lung(17;0.13)				EPHA5_ENST00000432638.2_Missense_Mutation_p.A669S|EPHA5_ENST00000354839.4_Missense_Mutation_p.A810S|EPHA5_ENST00000511294.1_Missense_Mutation_p.A833S	p.A832S	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			14	3094	-			832			Protein kinase.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.2494G>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	33	5.213403	0.95069	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.73575	-0.7;-0.76;-0.67;-0.69	5.98	5.98	0.97165	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000016	T	0.79375	0.4435	N	0.16307	0.4	0.80722	D	1	D;B;D;D	0.67145	0.996;0.109;0.996;0.966	D;B;D;D	0.91635	0.999;0.399;0.999;0.942	T	0.81922	-0.0711	10	0.87932	D	0	.	20.4366	0.99092	0.0:1.0:0.0:0.0	.	811;833;810;832	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	S	832;669;810;833	ENSP00000273854:A832S;ENSP00000389208:A669S;ENSP00000346899:A810S;ENSP00000427638:A833S	ENSP00000273854:A832S	A	-	1	0	EPHA5	65899716	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.818000	0.86416	2.843000	0.97960	0.585000	0.79938	GCC		0.408	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		10	86	1	0	3.07112e-06	1	3.29048e-06	10	86				
KMT2D	8085	broad.mit.edu	37	12	49438264	49438264	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr12:49438264G>A	ENST00000301067.7	-	20	5004	c.5005C>T	c.(5005-5007)Ccc>Tcc	p.P1669S		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1669					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGGCTGACGGGGCCCTCCAGT	0.532											OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000301067.7																			0											c.(5005-5007)Ccc>Tcc		lysine (K)-specific methyltransferase 2D							102.0	107.0	106.0					12																	49438264		1959	4158	6117	SO:0001583	missense	8085							g.chr12:49438264G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5005C>T	12.37:g.49438264G>A	ENSP00000301067:p.Pro1669Ser		OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	962		p.P1669S	NM_003482.3	NP_003473.3					20	5004	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.5005C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187984	0.38609	.	.	ENSG00000167548	ENST00000301067	T	0.80123	-1.34	5.1	5.1	0.69264	.	0.000000	0.36066	N	0.002801	T	0.69931	0.3166	L	0.36672	1.1	0.29781	N	0.834001	P	0.36048	0.534	B	0.28553	0.091	T	0.73924	-0.3829	10	0.87932	D	0	.	12.5211	0.56060	0.0:0.0:0.8331:0.1669	.	1669	O14686	MLL2_HUMAN	S	1669	ENSP00000301067:P1669S	ENSP00000301067:P1669S	P	-	1	0	MLL2	47724531	0.988000	0.35896	0.988000	0.46212	0.977000	0.68977	2.182000	0.42556	2.644000	0.89710	0.655000	0.94253	CCC		0.532	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			13	65	0	0	0	1	0	13	65				
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C	rs200733272|rs371950649	byFrequency	TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692													g|||	17	0.00339457	0.003	0.0043	5008	,	,		11369	0.004		0.002	False		,,,				2504	0.0041					ENST00000270631.1																			2	Substitution - Missense(2)	p.L22V(2)	endometrium(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6						c.(64-66)Ctg>Gtg		parathyroid hormone 2			VAL/LEU	12,4376		0,12,2182	12.0	16.0	14.0		64	3.3	0.0	19		14	11,8561		0,11,4275	no	missense	PTH2	NM_178449.3	32	0,23,6457	CC,CG,GG		0.1283,0.2735,0.1775	possibly-damaging	22/101	49926533	23,12937	2194	4286	6480	SO:0001583	missense	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49926533G>C	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64C>G	19.37:g.49926533G>C	ENSP00000270631:p.Leu22Val						p.L22V	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	1	165	-			22					Q96DJ4	Missense_Mutation	SNP	ENST00000270631.1	37	c.64C>G	CCDS12763.1	.	.	.	.	.	.	.	.	.	.	g	6.292	0.421904	0.11928	0.002735	0.001283	ENSG00000142538	ENST00000270631	.	.	.	4.3	3.26	0.37387	.	0.489236	0.15528	U	0.257640	T	0.26521	0.0648	L	0.27053	0.805	0.09310	N	1	P	0.46142	0.873	B	0.39419	0.299	T	0.08066	-1.0740	9	0.87932	D	0	-7.2733	12.3672	0.55234	0.0:0.1717:0.8283:0.0	.	22	Q96A98	TIP39_HUMAN	V	22	.	ENSP00000270631:L22V	L	-	1	2	PTH2	54618345	0.088000	0.21588	0.012000	0.15200	0.011000	0.07611	-0.504000	0.06375	0.947000	0.37659	-0.370000	0.07254	CTG		0.692	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449		4	36	0	0	0	1	0	4	36				
ANKRD35	148741	broad.mit.edu	37	1	145561563	145561563	+	Silent	SNP	T	T	C	rs373131719		TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:145561563T>C	ENST00000355594.4	+	10	1338	c.1251T>C	c.(1249-1251)caT>caC	p.H417H		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	417										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATGAAGTCCATGGAAGGTCCC	0.542																																					Melanoma(9;127 754 22988 51047)	ENST00000355594.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47						c.(1249-1251)caT>caC		ankyrin repeat domain 35		T		1,4405	2.1+/-5.4	0,1,2202	56.0	65.0	62.0		1251	-8.4	0.0	1		62	0,8600		0,0,4300	no	coding-synonymous	ANKRD35	NM_144698.3		0,1,6502	CC,CT,TT		0.0,0.0227,0.0077		417/1002	145561563	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	148741							g.chr1:145561563T>C	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1251T>C	1.37:g.145561563T>C							p.H417H	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN			10	1338	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		417					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Silent	SNP	ENST00000355594.4	37	c.1251T>C	CCDS919.1																																																																																				0.542	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		11	85	0	0	0	1	0	11	85				
TMPRSS9	360200	broad.mit.edu	37	19	2415714	2415714	+	Silent	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr19:2415714C>T	ENST00000332578.3	+	10	1518	c.1518C>T	c.(1516-1518)ggC>ggT	p.G506G		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	506	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTCGTGGGCGGGTTCGGAG	0.677																																						ENST00000332578.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1516-1518)ggC>ggT		transmembrane protease, serine 9							32.0	35.0	34.0					19																	2415714		2202	4300	6502	SO:0001819	synonymous_variant	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2415714C>T	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.1518C>T	19.37:g.2415714C>T							p.G506G	NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1518	+			506			Peptidase S1 2.		Q6ZND6|Q7Z411	Silent	SNP	ENST00000332578.3	37	c.1518C>T	CCDS12088.1																																																																																				0.677	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		4	50	0	0	0	1	0	4	50				
DOCK10	55619	broad.mit.edu	37	2	225740797	225740797	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr2:225740797G>A	ENST00000258390.7	-	8	956	c.889C>T	c.(889-891)Ctc>Ttc	p.L297F	DOCK10_ENST00000409592.3_Missense_Mutation_p.L291F	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	297					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTCCCTTGGAGGGGCCCCTCA	0.512																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(871-873)Ctc>Ttc		dedicator of cytokinesis 10							97.0	98.0	98.0					2																	225740797		1905	4121	6026	SO:0001583	missense	55619						GTP binding	g.chr2:225740797G>A	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.889C>T	2.37:g.225740797G>A	ENSP00000258390:p.Leu297Phe					DOCK10_ENST00000258390.7_Missense_Mutation_p.L297F	p.L291F			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	8	984	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	297					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.871C>T	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	6.027	0.373275	0.11409	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.03065	4.06;4.06	5.76	2.96	0.34315	.	0.789446	0.12452	N	0.467698	T	0.03434	0.0099	L	0.43152	1.355	0.09310	N	1	P;P;B	0.35208	0.49;0.483;0.351	B;B;B	0.38954	0.094;0.286;0.094	T	0.35919	-0.9769	10	0.07644	T	0.81	.	2.5043	0.04641	0.1448:0.1104:0.4394:0.3054	.	297;297;291	Q96BY6;Q96BY6-2;B3FL70	DOC10_HUMAN;.;.	F	291;297	ENSP00000386694:L291F;ENSP00000258390:L297F	ENSP00000258390:L297F	L	-	1	0	DOCK10	225449041	0.864000	0.29904	0.001000	0.08648	0.126000	0.20510	1.518000	0.35877	0.343000	0.23821	0.655000	0.94253	CTC		0.512	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			5	54	0	0	0	1	0	5	54				
FUZ	80199	broad.mit.edu	37	19	50310533	50310533	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr19:50310533C>T	ENST00000313777.4	-	11	1295	c.1132G>A	c.(1132-1134)Gtg>Atg	p.V378M	AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000445575.2_Splice_Site|FUZ_ENST00000533418.1_Missense_Mutation_p.V328M|FUZ_ENST00000528094.1_Missense_Mutation_p.V342M	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	378	Leu-rich.				cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		ACCAGACGCACTCCTGTGCCT	0.642																																						ENST00000313777.4																			0				endometrium(1)|lung(3)	4						c.(1132-1134)Gtg>Atg		fuzzy planar cell polarity protein							58.0	53.0	55.0					19																	50310533		2203	4300	6503	SO:0001583	missense	80199				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton		g.chr19:50310533C>T	BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"""fuzzy homolog (Drosophila)"""			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.1132G>A	19.37:g.50310533C>T	ENSP00000313309:p.Val378Met					FUZ_ENST00000528094.1_Missense_Mutation_p.V342M|FUZ_ENST00000445575.2_Splice_Site|FUZ_ENST00000533418.1_Missense_Mutation_p.V328M	p.V378M	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)	11	1295	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	378			Leu-rich.		B2RD86|B5MDH0|Q6PJY0|Q9H613	Missense_Mutation	SNP	ENST00000313777.4	37	c.1132G>A	CCDS12781.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.386|2.386	-0.341026|-0.341026	0.05243|0.05243	.|.	.|.	ENSG00000010361|ENSG00000010361	ENST00000445575|ENST00000528094;ENST00000533418;ENST00000313777;ENST00000377092	.|T;T;T	.|0.19394	.|2.15;2.15;2.15	4.35|4.35	0.899|0.899	0.19271|0.19271	.|.	.|0.613149	.|0.16698	.|N	.|0.203263	.|T	.|0.06781	.|0.0173	N|N	0.08118|0.08118	0|0	0.20489|0.20489	N|N	0.999893|0.999893	.|B;P	.|0.37636	.|0.257;0.603	.|B;B	.|0.29524	.|0.072;0.103	.|T	.|0.24368	.|-1.0162	.|10	.|0.30078	.|T	.|0.28	.|-1.7544	3.2304|3.2304	0.06746|0.06746	0.5043:0.2397:0.256:0.0|0.5043:0.2397:0.256:0.0	.|.	.|342;378	.|Q9BT04-3;Q9BT04	.|.;FUZZY_HUMAN	.|M	-1|342;328;378;278	.|ENSP00000435177:V342M;ENSP00000431731:V328M;ENSP00000313309:V378M	.|ENSP00000313309:V378M	.|V	-|-	.|1	.|0	FUZ|FUZ	55002345|55002345	0.031000|0.031000	0.19500|0.19500	0.202000|0.202000	0.23494|0.23494	0.108000|0.108000	0.19459|0.19459	0.479000|0.479000	0.22228|0.22228	0.251000|0.251000	0.21505|0.21505	-0.521000|-0.521000	0.04368|0.04368	.|GTG		0.642	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393986.1	NM_025129		10	47	0	0	0	1	0	10	47				
PCED1B	91523	broad.mit.edu	37	12	47629097	47629097	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr12:47629097C>A	ENST00000546455.1	+	4	982	c.251C>A	c.(250-252)tCc>tAc	p.S84Y	PCED1B_ENST00000432328.1_Missense_Mutation_p.S84Y|RP11-493L12.3_ENST00000547748.1_RNA			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	84							hydrolase activity (GO:0016787)										GAGTTCCGCTCCGACCACCAT	0.602																																						ENST00000546455.1																			0											c.(250-252)tCc>tAc		PC-esterase domain containing 1B							119.0	114.0	116.0					12																	47629097		2203	4300	6503	SO:0001583	missense	91523							g.chr12:47629097C>A	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.251C>A	12.37:g.47629097C>A	ENSP00000446688:p.Ser84Tyr					PCED1B_ENST00000432328.1_Missense_Mutation_p.S84Y	p.S84Y							4	982	+								Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.251C>A	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.829201	0.50845	.	.	ENSG00000179715	ENST00000546455;ENST00000432328;ENST00000549500;ENST00000549630	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	3.79	2.89	0.33648	Esterase, SGNH hydrolase-type (1);	0.359492	0.24985	N	0.034040	T	0.37625	0.1010	M	0.76002	2.32	0.41332	D	0.987247	D	0.64830	0.994	D	0.67103	0.949	T	0.30765	-0.9967	10	0.87932	D	0	-17.5997	10.98	0.47488	0.1879:0.8121:0.0:0.0	.	84	Q96HM7	F113B_HUMAN	Y	84	ENSP00000446688:S84Y;ENSP00000396040:S84Y;ENSP00000449680:S84Y;ENSP00000448000:S84Y	ENSP00000396040:S84Y	S	+	2	0	FAM113B	45915364	0.996000	0.38824	0.530000	0.27963	0.318000	0.28184	3.613000	0.54152	1.165000	0.42670	0.655000	0.94253	TCC		0.602	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		20	86	1	0	8.34094e-07	1	9.05431e-07	20	86				
PLD1	5337	broad.mit.edu	37	3	171406534	171406534	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr3:171406534C>T	ENST00000351298.4	-	14	1597	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K	PLD1_ENST00000342215.6_Missense_Mutation_p.E491K|PLD1_ENST00000356327.5_Missense_Mutation_p.E491K|PLD1_ENST00000340989.4_Missense_Mutation_p.E491K	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	491	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AGTCTGTGCTCATTGTCGTCC	0.502																																					NSCLC(149;2174 3517 34058)	ENST00000356327.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63						c.(1471-1473)Gag>Aag		phospholipase D1, phosphatidylcholine-specific	Choline(DB00122)						127.0	110.0	116.0					3																	171406534		2203	4300	6503	SO:0001583	missense	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171406534C>T	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1471G>A	3.37:g.171406534C>T	ENSP00000342793:p.Glu491Lys					PLD1_ENST00000342215.6_Missense_Mutation_p.E491K|PLD1_ENST00000351298.4_Missense_Mutation_p.E491K|PLD1_ENST00000340989.4_Missense_Mutation_p.E491K	p.E491K	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		14	1541	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		491			Catalytic.			Missense_Mutation	SNP	ENST00000351298.4	37	c.1471G>A	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781850	0.70222	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000342215;ENST00000340989	T;T;T;T	0.34859	3.26;3.25;1.34;3.11	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.36853	0.0982	L	0.52011	1.625	0.58432	D	0.999999	P;B	0.43542	0.81;0.427	B;B	0.39904	0.313;0.254	T	0.10567	-1.0624	10	0.30854	T	0.27	-27.0122	19.3161	0.94215	0.0:1.0:0.0:0.0	.	514;491	Q59EA4;Q13393	.;PLD1_HUMAN	K	491	ENSP00000348681:E491K;ENSP00000342793:E491K;ENSP00000339936:E491K;ENSP00000340326:E491K	ENSP00000340326:E491K	E	-	1	0	PLD1	172889228	1.000000	0.71417	0.901000	0.35422	0.423000	0.31445	5.936000	0.70153	2.635000	0.89317	0.655000	0.94253	GAG		0.502	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		8	69	0	0	0	1	0	8	69				
FKBPL	63943	broad.mit.edu	37	6	32096926	32096926	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr6:32096926C>T	ENST00000375156.3	-	2	902	c.632G>A	c.(631-633)aGg>aAg	p.R211K	ATF6B_ENST00000375203.3_5'Flank|ATF6B_ENST00000375201.4_5'Flank|ATF6B_ENST00000468502.1_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	211					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)										ACGTTCTTCCCTGGCCAGGGC	0.602																																						ENST00000375156.3																			0											c.(631-633)aGg>aAg		FK506 binding protein like							80.0	85.0	83.0					6																	32096926		2203	4300	6503	SO:0001583	missense	63943				response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:32096926C>T	AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"""Tetratricopeptide (TTC) repeat domain containing"""	13949	protein-coding gene	gene with protein product	"""WAF-1/CIP1 stabilizing protein 39"""		"""FK506-binding protein like"""			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.632G>A	6.37:g.32096926C>T	ENSP00000364298:p.Arg211Lys						p.R211K	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN			2	902	-			211					A8K5V3|B0UYX8|Q9H5G3	Missense_Mutation	SNP	ENST00000375156.3	37	c.632G>A	CCDS4738.1	.	.	.	.	.	.	.	.	.	.	C	1.484	-0.556540	0.03967	.	.	ENSG00000204315	ENST00000375156	T	0.58506	0.33	5.38	-4.96	0.03038	Tetratricopeptide-like helical (1);	1.206470	0.05818	N	0.615169	T	0.07863	0.0197	N	0.05487	-0.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.06144	-1.0843	10	0.07325	T	0.83	-1.0082	0.9552	0.01384	0.2035:0.1617:0.2164:0.4185	.	211	Q9UIM3	FKBPL_HUMAN	K	211	ENSP00000364298:R211K	ENSP00000364298:R211K	R	-	2	0	FKBPL	32204904	0.000000	0.05858	0.175000	0.22980	0.805000	0.45488	-0.161000	0.10026	-0.843000	0.04189	-1.474000	0.01003	AGG		0.602	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2			22	95	0	0	0	1	0	22	95				
ITGAV	3685	broad.mit.edu	37	2	187455132	187455132	+	Missense_Mutation	SNP	C	C	T	rs201836720		TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr2:187455132C>T	ENST00000261023.3	+	1	341	c.67C>T	c.(67-69)Ctc>Ttc	p.L23F	ITGAV_ENST00000374907.3_Missense_Mutation_p.L23F	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	23					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	TCTCTCGGGACTCCTGCTACC	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		11433	0.001		0.0	False		,,,				2504	0.0				Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(67-69)Ctc>Ttc		integrin, alpha V							31.0	35.0	34.0					2																	187455132		2203	4300	6503	SO:0001583	missense	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187455132C>T		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.67C>T	2.37:g.187455132C>T	ENSP00000261023:p.Leu23Phe					ITGAV_ENST00000374907.3_Missense_Mutation_p.L23F	p.L23F	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	1	341	+			23					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	c.67C>T	CCDS2292.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.05	1.244996	0.22796	.	.	ENSG00000138448	ENST00000544640;ENST00000261023;ENST00000374907	D;D	0.85629	-2.01;-2.01	4.18	2.18	0.27775	.	0.722722	0.12995	N	0.422173	T	0.75642	0.3877	L	0.49126	1.545	0.34062	D	0.657433	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.66881	-0.5811	10	0.30078	T	0.28	.	0.4246	0.00461	0.2017:0.337:0.1974:0.2639	.	23;23	P06756-2;P06756	.;ITAV_HUMAN	F	23	ENSP00000261023:L23F;ENSP00000364042:L23F	ENSP00000261023:L23F	L	+	1	0	ITGAV	187163377	0.507000	0.26146	0.033000	0.17914	0.345000	0.29048	0.491000	0.22419	0.290000	0.22444	0.462000	0.41574	CTC		0.672	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		5	46	0	0	0	1	0	5	46				
USP21	27005	broad.mit.edu	37	1	161130737	161130737	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:161130737C>T	ENST00000289865.8	+	2	528	c.307C>T	c.(307-309)Cca>Tca	p.P103S	USP21_ENST00000368002.3_Missense_Mutation_p.P103S|USP21_ENST00000368001.1_Missense_Mutation_p.P103S|RP11-297K8.2_ENST00000420498.1_RNA	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	103					histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TTTGCCTCTCCCATCTCGGAC	0.642																																						ENST00000368002.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29						c.(307-309)Cca>Tca		ubiquitin specific peptidase 21							83.0	76.0	78.0					1																	161130737		2203	4300	6503	SO:0001583	missense	27005				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:161130737C>T	AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.307C>T	1.37:g.161130737C>T	ENSP00000289865:p.Pro103Ser					USP21_ENST00000289865.8_Missense_Mutation_p.P103S|USP21_ENST00000368001.1_Missense_Mutation_p.P103S	p.P103S	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		3	684	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		103					Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	ENST00000289865.8	37	c.307C>T	CCDS30920.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403788	0.62288	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.41758	0.99;0.99;0.99	5.14	5.14	0.70334	.	1.004080	0.08022	N	0.992107	T	0.15046	0.0363	N	0.14661	0.345	0.31518	N	0.662692	B	0.18310	0.027	B	0.14023	0.01	T	0.05971	-1.0853	10	0.49607	T	0.09	.	11.5868	0.50923	0.0:0.9151:0.0:0.0849	.	103	Q9UK80	UBP21_HUMAN	S	103	ENSP00000356981:P103S;ENSP00000289865:P103S;ENSP00000356980:P103S	ENSP00000289865:P103S	P	+	1	0	USP21	159397361	0.997000	0.39634	1.000000	0.80357	0.981000	0.71138	2.698000	0.47068	2.666000	0.90696	0.561000	0.74099	CCA		0.642	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1			12	65	0	0	0	1	0	12	65				
FGD1	2245	broad.mit.edu	37	X	54475672	54475672	+	Silent	SNP	C	C	T	rs144498939	byFrequency	TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chrX:54475672C>T	ENST00000375135.3	-	15	2911	c.2178G>A	c.(2176-2178)acG>acA	p.T726T		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	726					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCCGGATGGGCGTAGGTGCCC	0.602																																						ENST00000375135.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(2176-2178)acG>acA		FYVE, RhoGEF and PH domain containing 1		C		0,3835		0,0,0,1632,571	84.0	64.0	71.0		2178	-9.4	0.8	X	dbSNP_134	71	1,6727		0,0,1,2428,1871	no	coding-synonymous	FGD1	NM_004463.2		0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095		726/962	54475672	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54475672C>T	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.2178G>A	X.37:g.54475672C>T							p.T726T	NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN			15	2911	-			726					Q5H999|Q8N4D9	Silent	SNP	ENST00000375135.3	37	c.2178G>A	CCDS14359.1																																																																																				0.602	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		7	20	0	0	0	1	0	7	20				
PTPRM	5797	broad.mit.edu	37	18	7955231	7955231	+	Silent	SNP	G	G	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr18:7955231G>A	ENST00000332175.8	+	7	1988	c.951G>A	c.(949-951)gaG>gaA	p.E317E	PTPRM_ENST00000400053.4_Silent_p.E255E|PTPRM_ENST00000444013.1_Silent_p.E104E|PTPRM_ENST00000400060.4_Silent_p.E317E|PTPRM_ENST00000580170.1_Silent_p.E317E	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	317	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TGGCCCGAGAGGTGGAGTACT	0.557																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(949-951)gaG>gaA		protein tyrosine phosphatase, receptor type, M							51.0	49.0	50.0					18																	7955231		2203	4300	6503	SO:0001819	synonymous_variant	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:7955231G>A	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.951G>A	18.37:g.7955231G>A						PTPRM_ENST00000444013.1_Silent_p.E104E|PTPRM_ENST00000400053.4_Silent_p.E255E|PTPRM_ENST00000400060.4_Silent_p.E317E|PTPRM_ENST00000580170.1_Silent_p.E317E	p.E317E	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			7	1988	+		Colorectal(10;0.234)	317			Fibronectin type-III 1.		A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	37	c.951G>A	CCDS11840.1																																																																																				0.557	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			14	43	0	0	0	1	0	14	43				
MAP3K5	4217	broad.mit.edu	37	6	136926459	136926459	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr6:136926459C>G	ENST00000359015.4	-	19	2927	c.2567G>C	c.(2566-2568)aGa>aCa	p.R856T	MAP3K5_ENST00000355845.4_Missense_Mutation_p.R103T	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	856	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TCCGTAGCCTCTTGGTCCTTT	0.413																																						ENST00000359015.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58						c.(2566-2568)aGa>aCa		mitogen-activated protein kinase kinase kinase 5							112.0	106.0	108.0					6																	136926459		2203	4300	6503	SO:0001583	missense	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136926459C>G	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.2567G>C	6.37:g.136926459C>G	ENSP00000351908:p.Arg856Thr					MAP3K5_ENST00000355845.4_Missense_Mutation_p.R103T	p.R856T	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	19	2927	-	Colorectal(23;0.24)		856			Protein kinase.		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	c.2567G>C	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810455	0.90707	.	.	ENSG00000197442	ENST00000359015;ENST00000355845;ENST00000367768	T;T	0.65732	-0.17;-0.17	5.21	5.21	0.72293	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.50582	0.1624	N	0.02751	-0.505	0.80722	D	1	P;D	0.71674	0.938;0.998	P;D	0.77557	0.747;0.99	T	0.64550	-0.6381	10	0.36615	T	0.2	.	19.1047	0.93290	0.0:1.0:0.0:0.0	.	936;856	Q59GL6;Q99683	.;M3K5_HUMAN	T	856;103;936	ENSP00000351908:R856T;ENSP00000348104:R103T	ENSP00000348104:R103T	R	-	2	0	MAP3K5	136968152	1.000000	0.71417	0.855000	0.33649	0.967000	0.64934	7.442000	0.80503	2.592000	0.87571	0.655000	0.94253	AGA		0.413	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			22	52	0	0	0	1	0	22	52				
KIF18B	146909	broad.mit.edu	37	17	43009516	43009516	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr17:43009516C>T	ENST00000593135.1	-	10	1394	c.1297G>A	c.(1297-1299)Ggg>Agg	p.G433R	KIF18B_ENST00000339151.4_Missense_Mutation_p.G445R|KIF18B_ENST00000590129.1_Missense_Mutation_p.G454R|KIF18B_ENST00000438933.2_Missense_Mutation_p.G445R|KIF18B_ENST00000587309.1_Missense_Mutation_p.G445R	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	454	Pro-rich.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GCCTCCATCCCCAGACTCTCC	0.642																																						ENST00000587309.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21						c.(1333-1335)Ggg>Agg		kinesin family member 18B							31.0	34.0	33.0					17																	43009516		1899	4113	6012	SO:0001583	missense	146909							g.chr17:43009516C>T		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.1297G>A	17.37:g.43009516C>T	ENSP00000465992:p.Gly433Arg					KIF18B_ENST00000590129.1_Missense_Mutation_p.G454R|KIF18B_ENST00000438933.2_Missense_Mutation_p.G445R|KIF18B_ENST00000339151.4_Missense_Mutation_p.G445R|KIF18B_ENST00000593135.1_Missense_Mutation_p.G433R	p.G445R	NM_001264573.1	NP_001251503.1					10	1356	-		Prostate(33;0.155)						A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	37	c.1333G>A	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727139	0.48833	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.63580	-0.05;-0.05	5.43	3.39	0.38822	.	.	.	.	.	T	0.62816	0.2459	M	0.68317	2.08	0.09310	N	1	P;P;P	0.52842	0.926;0.923;0.956	B;B;P	0.48030	0.36;0.408;0.564	T	0.52019	-0.8631	9	0.34782	T	0.22	.	8.1928	0.31379	0.0:0.7419:0.1714:0.0868	.	454;442;454	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	R	445	ENSP00000412798:G445R;ENSP00000341466:G445R	ENSP00000341466:G445R	G	-	1	0	KIF18B	40365042	0.001000	0.12720	0.013000	0.15412	0.012000	0.07955	0.380000	0.20602	0.742000	0.32697	-0.150000	0.13652	GGG		0.642	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		10	28	0	0	0	1	0	10	28				
CPNE7	27132	broad.mit.edu	37	16	89661966	89661966	+	Silent	SNP	G	G	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr16:89661966G>A	ENST00000268720.5	+	16	1849	c.1719G>A	c.(1717-1719)gcG>gcA	p.A573A	CPNE7_ENST00000566398.1_3'UTR|CPNE7_ENST00000319518.8_Silent_p.A498A	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	573	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		GTGAGCCCGCGCTCCGGGACA	0.662																																						ENST00000268720.5																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17						c.(1717-1719)gcG>gcA		copine VII							42.0	41.0	41.0					16																	89661966		2197	4295	6492	SO:0001819	synonymous_variant	27132				lipid metabolic process		transporter activity	g.chr16:89661966G>A	AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.1719G>A	16.37:g.89661966G>A						CPNE7_ENST00000566398.1_3'UTR|CPNE7_ENST00000319518.8_Silent_p.A498A	p.A573A	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)	16	1849	+		all_hematologic(23;0.0748)	573			VWFA.			Silent	SNP	ENST00000268720.5	37	c.1719G>A	CCDS10980.1																																																																																				0.662	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2			9	46	0	0	0	1	0	9	46				
LOC150776	150776	broad.mit.edu	37	2	132275460	132275460	+	RNA	SNP	A	A	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr2:132275460A>T	ENST00000438378.2	+	0	1733					NR_026922.1																						GATGATTCAGAAAGGTAAGTC	0.617																																						ENST00000438378.2																			0																																																			150776							g.chr2:132275460A>T																													2.37:g.132275460A>T								NR_026922.1						0	1733	+									RNA	SNP	ENST00000438378.2	37																																																																																						0.617	AC093838.4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331819.7			3	26	0	0	0	1	0	3	26				
CHMP4A	29082	broad.mit.edu	37	14	24682710	24682710	+	5'Flank	SNP	G	G	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr14:24682710G>A	ENST00000609024.1	-	0	0				CHMP4A_ENST00000542700.2_5'Flank|CHMP4A_ENST00000347519.6_Missense_Mutation_p.P22L|CHMP4A_ENST00000530996.1_5'Flank|AL136419.6_ENST00000565988.1_RNA|TM9SF1_ENST00000530611.1_5'Flank|MDP1_ENST00000532557.1_5'Flank|NEDD8-MDP1_ENST00000604306.1_5'Flank|TM9SF1_ENST00000556387.1_5'Flank			Q9BY43	CHM4A_HUMAN	charged multivesicular body protein 4A						endosomal transport (GO:0016197)|membrane budding (GO:0006900)|membrane organization (GO:0061024)|membrane tubulation (GO:0097320)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9				GBM - Glioblastoma multiforme(265;0.0181)		GCTCCTGGGAGGGTGATGTCT	0.657																																						ENST00000347519.6																			0				NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9						c.(64-66)cCt>cTt		charged multivesicular body protein 4A							56.0	49.0	51.0					14																	24682710		2203	4300	6503	SO:0001631	upstream_gene_variant	29082							g.chr14:24682710G>A	AF212243	CCDS9619.1	14q12	2012-10-04	2011-09-21	2005-04-04	ENSG00000254505	ENSG00000254505		"""Charged multivesicular body proteins"""	20274	protein-coding gene	gene with protein product		610051	"""chromosome 14 open reading frame 123"", ""chromatin modifying protein 4A"""	C14orf123			Standard	NM_014169		Approved	HSPC134, VPS32A		Q9BY43	OTTHUMG00000167036		14.37:g.24682710G>A	Exception_encountered					AL136419.6_ENST00000565988.1_RNA	p.P22L	NM_014169.3	NP_054888.2				GBM - Glioblastoma multiforme(265;0.0181)	1	365	-								Q14D22|Q32Q79|Q86SZ8|Q96QJ9|Q9P026	Missense_Mutation	SNP	ENST00000609024.1	37	c.65C>T		.	.	.	.	.	.	.	.	.	.	G	18.20	3.570450	0.65765	.	.	ENSG00000254505	ENST00000347519	T	0.61274	0.12	4.64	-0.785	0.10950	.	.	.	.	.	T	0.31327	0.0793	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19160	-1.0314	9	0.66056	D	0.02	1.1154	3.8433	0.08923	0.3917:0.0:0.4449:0.1634	.	22	Q14D22	.	L	22	ENSP00000324205:P22L	ENSP00000324205:P22L	P	-	2	0	AL096870.1	23752550	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	0.182000	0.16900	-0.073000	0.12842	0.561000	0.74099	CCT		0.657	CHMP4A-012	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471846.1	NM_014169		5	49	0	0	0	1	0	5	49				
ZNF14	7561	broad.mit.edu	37	19	19823218	19823218	+	Missense_Mutation	SNP	A	A	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr19:19823218A>T	ENST00000344099.3	-	4	1010	c.872T>A	c.(871-873)cTc>cAc	p.L291H		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				AAAAGAACTGAGAAAACTGAA	0.388																																						ENST00000344099.3																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(871-873)cTc>cAc		zinc finger protein 14							42.0	43.0	43.0					19																	19823218		2203	4300	6503	SO:0001583	missense	7561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19823218A>T	AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"""Zinc fingers, C2H2-type"", ""-"""	12924	protein-coding gene	gene with protein product		194556	"""zinc finger protein 14 (KOX 6)"""				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.872T>A	19.37:g.19823218A>T	ENSP00000340514:p.Leu291His						p.L291H	NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN			4	1010	-		Renal(1328;0.0474)	291					B9EGA4|Q9ULZ5	Missense_Mutation	SNP	ENST00000344099.3	37	c.872T>A	CCDS12409.1	.	.	.	.	.	.	.	.	.	.	A	12.06	1.823298	0.32237	.	.	ENSG00000105708	ENST00000344099	T	0.07567	3.18	1.8	-1.73	0.08081	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02688	0.0081	N	0.11756	0.17	0.09310	N	1	P	0.48230	0.907	B	0.36289	0.221	T	0.36648	-0.9739	9	0.14252	T	0.57	.	2.1508	0.03799	0.2529:0.0:0.3139:0.4332	.	291	P17017	ZNF14_HUMAN	H	291	ENSP00000340514:L291H	ENSP00000340514:L291H	L	-	2	0	ZNF14	19684218	0.000000	0.05858	0.000000	0.03702	0.981000	0.71138	-2.025000	0.01435	0.002000	0.14630	0.383000	0.25322	CTC		0.388	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030		4	36	0	0	0	1	0	4	36				
HIST1H3C	8352	broad.mit.edu	37	6	26045748	26045748	+	Missense_Mutation	SNP	A	A	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr6:26045748A>T	ENST00000540144.1	+	1	110	c.110A>T	c.(109-111)aAg>aTg	p.K37M	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	37					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GGTGGCGTGAAGAAACCTCAT	0.632																																						ENST00000540144.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						c.(109-111)aAg>aTg		histone cluster 1, H3c							44.0	47.0	46.0					6																	26045748		2203	4300	6503	SO:0001583	missense	8352				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26045748A>T	X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"""Histones / Replication-dependent"""	4768	protein-coding gene	gene with protein product		602812	"""H3 histone family, member C"", ""histone 1, H3c"""	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.110A>T	6.37:g.26045748A>T	ENSP00000439493:p.Lys37Met						p.K37M	NM_003531.2	NP_003522.1	P68431	H31_HUMAN			1	110	+			37					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000540144.1	37	c.110A>T	CCDS4576.1	.	.	.	.	.	.	.	.	.	.	A	13.17	2.157156	0.38119	.	.	ENSG00000196532	ENST00000540144	T	0.56776	0.44	4.67	4.67	0.58626	.	.	.	.	.	T	0.58581	0.2132	.	.	.	0.42229	D	0.991889	.	.	.	.	.	.	T	0.65446	-0.6166	6	0.87932	D	0	.	13.9855	0.64331	1.0:0.0:0.0:0.0	.	.	.	.	M	37	ENSP00000439493:K37M	ENSP00000439493:K37M	K	+	2	0	HIST1H3C	26153727	1.000000	0.71417	1.000000	0.80357	0.033000	0.12548	6.203000	0.72137	2.045000	0.60652	0.482000	0.46254	AAG		0.632	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040078.1	NM_003531		19	75	0	0	0	1	0	19	75				
GRID2	2895	broad.mit.edu	37	4	94436372	94436372	+	Missense_Mutation	SNP	T	T	C			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr4:94436372T>C	ENST00000282020.4	+	13	2261	c.2003T>C	c.(2002-2004)cTc>cCc	p.L668P	GRID2_ENST00000510992.1_Missense_Mutation_p.L573P	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	668					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TCAAGGTCTCTCCAGGACCTT	0.408																																						ENST00000282020.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2002-2004)cTc>cCc		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						39.0	39.0	39.0					4																	94436372		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94436372T>C	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2003T>C	4.37:g.94436372T>C	ENSP00000282020:p.Leu668Pro					GRID2_ENST00000510992.1_Missense_Mutation_p.L573P	p.L668P	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	13	2261	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	668					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.2003T>C	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.132156	0.77662	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.57595	0.39;0.39	4.96	4.96	0.65561	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.62282	0.2415	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.65405	-0.6176	10	0.59425	D	0.04	.	14.9064	0.70724	0.0:0.0:0.0:1.0	.	573;668	E9PH24;O43424	.;GRID2_HUMAN	P	668;573	ENSP00000282020:L668P;ENSP00000421257:L573P	ENSP00000282020:L668P	L	+	2	0	GRID2	94655395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.993000	0.88291	1.981000	0.57761	0.477000	0.44152	CTC		0.408	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			5	21	0	0	0	1	0	5	21				
MAPK8	5599	broad.mit.edu	37	10	49612966	49612966	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr10:49612966C>T	ENST00000374189.1	+	3	375	c.194C>T	c.(193-195)aCt>aTt	p.T65I	MAPK8_ENST00000374182.3_Missense_Mutation_p.T65I|MAPK8_ENST00000374174.1_Missense_Mutation_p.T65I|MAPK8_ENST00000360332.3_Missense_Mutation_p.T65I|MAPK8_ENST00000395611.3_Missense_Mutation_p.T65I			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	65	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		CAGAATCAGACTCATGCCAAG	0.358																																						ENST00000374189.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34						c.(193-195)aCt>aTt		mitogen-activated protein kinase 8							90.0	90.0	90.0					10																	49612966		2203	4300	6503	SO:0001583	missense	5599				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding	g.chr10:49612966C>T	L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6881	protein-coding gene	gene with protein product	"""JUN N-terminal kinase"""	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.194C>T	10.37:g.49612966C>T	ENSP00000363304:p.Thr65Ile					MAPK8_ENST00000395611.3_Missense_Mutation_p.T65I|MAPK8_ENST00000360332.3_Missense_Mutation_p.T65I|MAPK8_ENST00000374174.1_Missense_Mutation_p.T65I|MAPK8_ENST00000374182.3_Missense_Mutation_p.T65I	p.T65I			P45983	MK08_HUMAN		Epithelial(53;3.46e-65)|Lung(62;0.125)	3	375	+		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)	65			Protein kinase.		B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Missense_Mutation	SNP	ENST00000374189.1	37	c.194C>T	CCDS7224.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575618	0.65878	.	.	ENSG00000107643	ENST00000432379;ENST00000374189;ENST00000426557;ENST00000374182;ENST00000374179;ENST00000360332;ENST00000374176;ENST00000374174;ENST00000395611	T;T;T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.4	5.4	0.78164	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67353	0.2884	L	0.31120	0.905	0.80722	D	1	D;D;D;D;D	0.76494	0.997;0.998;0.999;0.999;0.998	D;D;D;D;D	0.73380	0.977;0.965;0.98;0.98;0.941	T	0.57516	-0.7798	10	0.07482	T	0.82	.	19.3691	0.94477	0.0:1.0:0.0:0.0	.	65;65;65;65;65	Q308M2;P45983-2;P45983;A1L4K2;P45983-3	.;.;MK08_HUMAN;.;.	I	65	ENSP00000387936:T65I;ENSP00000363304:T65I;ENSP00000397729:T65I;ENSP00000363297:T65I;ENSP00000363294:T65I;ENSP00000353483:T65I;ENSP00000363291:T65I;ENSP00000363289:T65I;ENSP00000378974:T65I	ENSP00000353483:T65I	T	+	2	0	MAPK8	49282972	1.000000	0.71417	0.980000	0.43619	0.990000	0.78478	7.534000	0.82004	2.822000	0.97130	0.650000	0.86243	ACT		0.358	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047931.1			5	37	0	0	0	1	0	5	37				
RELN	5649	broad.mit.edu	37	7	103237105	103237105	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr7:103237105C>T	ENST00000428762.1	-	25	3496	c.3337G>A	c.(3337-3339)Ggg>Agg	p.G1113R	RELN_ENST00000424685.2_Missense_Mutation_p.G1113R|RELN_ENST00000343529.5_Missense_Mutation_p.G1113R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1113					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGTCTTTTCCCAGCCTTTCAG	0.433																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(3337-3339)Ggg>Agg		reelin							60.0	63.0	62.0					7																	103237105		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103237105C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3337G>A	7.37:g.103237105C>T	ENSP00000392423:p.Gly1113Arg					RELN_ENST00000343529.5_Missense_Mutation_p.G1113R|RELN_ENST00000424685.2_Missense_Mutation_p.G1113R	p.G1113R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	25	3496	-			1113					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.3337G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917647	0.92249	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.26373	1.74;1.74;1.74	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.52008	0.1708	M	0.64170	1.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.47959	-0.9076	10	0.66056	D	0.02	.	20.0758	0.97742	0.0:1.0:0.0:0.0	.	1113;1113	P78509-2;P78509	.;RELN_HUMAN	R	1113	ENSP00000392423:G1113R;ENSP00000345694:G1113R;ENSP00000388446:G1113R	ENSP00000345694:G1113R	G	-	1	0	RELN	103024341	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.270000	0.78493	2.763000	0.94921	0.650000	0.86243	GGG		0.433	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		10	52	0	0	0	1	0	10	52				
CAPN15	6650	broad.mit.edu	37	16	603477	603477	+	Silent	SNP	G	G	A	rs149989399	byFrequency	TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr16:603477G>A	ENST00000219611.2	+	14	3585	c.3222G>A	c.(3220-3222)acG>acA	p.T1074T	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	1074					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCCCACTCACGCCAGAGGTCG	0.677													G|||	6	0.00119808	0.003	0.0	5008	,	,		7646	0.0		0.0	False		,,,				2504	0.002					ENST00000219611.2																			0											c.(3220-3222)acG>acA		calpain 15		G		11,4383	19.1+/-41.9	0,11,2186	40.0	42.0	42.0		3222	-8.8	0.0	16	dbSNP_134	42	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	SOLH	NM_005632.2		0,12,6483	AA,AG,GG		0.0116,0.2503,0.0924		1074/1087	603477	12,12978	2197	4298	6495	SO:0001819	synonymous_variant	6650							g.chr16:603477G>A	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.3222G>A	16.37:g.603477G>A						LA16c-366D1.3_ENST00000565879.1_RNA	p.T1074T	NM_005632.2	NP_005623.1					14	3585	+								B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Silent	SNP	ENST00000219611.2	37	c.3222G>A	CCDS10410.1																																																																																				0.677	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		7	73	0	0	0	1	0	7	73				
KCNH7	90134	broad.mit.edu	37	2	163695001	163695001	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr2:163695001G>T	ENST00000332142.5	-	1	127	c.28C>A	c.(28-30)Cca>Aca	p.P10T	KCNH7_ENST00000328032.4_Missense_Mutation_p.P10T	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	10					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GTATTTTGTGGTGCCACATGC	0.562																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(28-30)Cca>Aca		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						130.0	114.0	119.0					2																	163695001		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163695001G>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.28C>A	2.37:g.163695001G>T	ENSP00000331727:p.Pro10Thr					KCNH7_ENST00000328032.4_Missense_Mutation_p.P10T	p.P10T	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			1	127	-			10					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.28C>A	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350465	0.82132	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99719	-5.44;-6.52	5.53	5.53	0.82687	.	0.061204	0.64402	D	0.000003	D	0.99680	0.9880	M	0.81341	2.54	0.58432	D	0.999992	P;D	0.76494	0.83;0.999	P;D	0.75484	0.655;0.986	D	0.97862	1.0281	10	0.87932	D	0	.	18.4516	0.90705	0.0:0.0:1.0:0.0	.	10;10	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	T	10	ENSP00000331727:P10T;ENSP00000333781:P10T	ENSP00000333781:P10T	P	-	1	0	KCNH7	163403247	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.437000	0.97535	2.603000	0.88011	0.585000	0.79938	CCA		0.562	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		9	65	1	0	4.84862e-15	1	5.55571e-15	9	65				
PI4KB	5298	broad.mit.edu	37	1	151278751	151278751	+	Missense_Mutation	SNP	C	C	T	rs200350201		TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:151278751C>T	ENST00000368873.1	-	5	1439	c.1271G>A	c.(1270-1272)cGg>cAg	p.R424Q	PI4KB_ENST00000368872.1_Missense_Mutation_p.R409Q|PI4KB_ENST00000271657.5_Missense_Mutation_p.R436Q|PI4KB_ENST00000368874.4_Missense_Mutation_p.R409Q|PI4KB_ENST00000529142.1_Missense_Mutation_p.R92Q|PI4KB_ENST00000368875.2_Missense_Mutation_p.R436Q			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	424					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCTCGTACTCCGAATTCGGTT	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		20006	0.0		0.001	False		,,,				2504	0.0				Colon(154;765 1838 9854 28443 37492)	ENST00000368875.2																			0				breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(1306-1308)cGg>cAg		phosphatidylinositol 4-kinase, catalytic, beta							78.0	72.0	74.0					1																	151278751		2203	4300	6503	SO:0001583	missense	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151278751C>T	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.1271G>A	1.37:g.151278751C>T	ENSP00000357867:p.Arg424Gln					PI4KB_ENST00000271657.5_Missense_Mutation_p.R436Q|PI4KB_ENST00000529142.1_Missense_Mutation_p.R92Q|PI4KB_ENST00000368872.1_Missense_Mutation_p.R409Q|PI4KB_ENST00000368873.1_Missense_Mutation_p.R424Q|PI4KB_ENST00000368874.4_Missense_Mutation_p.R409Q	p.R436Q	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		6	1887	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		424					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37	c.1307G>A		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	34	5.308839	0.95629	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000529142;ENST00000368872;ENST00000430800;ENST00000489223	T;T;T;T;T;T	0.72725	-0.66;-0.68;-0.68;-0.67;-0.42;-0.66	5.88	5.88	0.94601	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.80037	0.4550	M	0.72353	2.195	0.80722	D	1	P;D;D	0.76494	0.474;0.999;0.971	B;D;P	0.65573	0.056;0.936;0.562	T	0.77835	-0.2440	10	0.42905	T	0.14	-16.6352	18.8019	0.92022	0.0:1.0:0.0:0.0	.	424;409;92	Q9UBF8;Q9UBF8-2;Q9UBF8-3	PI4KB_HUMAN;.;.	Q	409;436;436;424;92;409;92;92	ENSP00000357868:R409Q;ENSP00000357869:R436Q;ENSP00000271657:R436Q;ENSP00000357867:R424Q;ENSP00000433149:R92Q;ENSP00000357866:R409Q	ENSP00000271657:R436Q	R	-	2	0	PI4KB	149545375	1.000000	0.71417	1.000000	0.80357	0.432000	0.31715	7.400000	0.79949	2.779000	0.95612	0.650000	0.86243	CGG		0.527	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		13	50	0	0	0	1	0	13	50				
OGDHL	55753	broad.mit.edu	37	10	50944522	50944522	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr10:50944522G>A	ENST00000374103.4	-	21	2720	c.2635C>T	c.(2635-2637)Cgg>Tgg	p.R879W	OGDHL_ENST00000432695.1_Missense_Mutation_p.R670W|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Missense_Mutation_p.R822W	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	879					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TCAGGGGCCCGTGCTGCGGCC	0.637																																						ENST00000374103.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(2635-2637)Cgg>Tgg		oxoglutarate dehydrogenase-like							60.0	65.0	64.0					10																	50944522		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50944522G>A	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.2635C>T	10.37:g.50944522G>A	ENSP00000363216:p.Arg879Trp					OGDHL_ENST00000419399.1_Missense_Mutation_p.R822W|OGDHL_ENST00000432695.1_Missense_Mutation_p.R670W|OGDHL_ENST00000490844.1_5'UTR	p.R879W	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			21	2720	-			879					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.2635C>T	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	G	8.752	0.921531	0.17982	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;T	0.11604	2.76;2.76;2.76	5.4	5.4	0.78164	.	0.483910	0.22993	N	0.053164	T	0.08223	0.0205	N	0.19112	0.55	0.09310	N	1	P;P;B	0.36249	0.545;0.545;0.41	B;B;B	0.31016	0.068;0.123;0.076	T	0.24905	-1.0147	10	0.72032	D	0.01	.	15.5204	0.75862	0.0:0.1385:0.8615:0.0	.	822;670;879	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	W	879;822;670	ENSP00000363216:R879W;ENSP00000401356:R822W;ENSP00000390240:R670W	ENSP00000363216:R879W	R	-	1	2	OGDHL	50614528	0.017000	0.18338	0.005000	0.12908	0.054000	0.15201	1.918000	0.40006	2.538000	0.85594	0.484000	0.47621	CGG		0.637	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		4	125	0	0	0	1	0	4	125				
ABCA12	26154	broad.mit.edu	37	2	215840595	215840595	+	Silent	SNP	G	G	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr2:215840595G>T	ENST00000272895.7	-	34	5514	c.5295C>A	c.(5293-5295)ggC>ggA	p.G1765G	ABCA12_ENST00000389661.4_Silent_p.G1447G	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1765					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTCTCAGTGTGCCAAGGCCCA	0.488																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(5293-5295)ggC>ggA		ATP-binding cassette, sub-family A (ABC1), member 12							156.0	147.0	150.0					2																	215840595		2203	4300	6503	SO:0001819	synonymous_variant	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215840595G>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.5295C>A	2.37:g.215840595G>T						ABCA12_ENST00000389661.4_Silent_p.G1447G	p.G1765G	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	34	5514	-		Renal(323;0.127)	1765					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	c.5295C>A	CCDS33372.1																																																																																				0.488	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		21	101	1	0	2.4624e-09	1	2.74524e-09	21	101				
WDR90	197335	broad.mit.edu	37	16	716723	716723	+	Silent	SNP	G	G	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr16:716723G>A	ENST00000293879.4	+	39	4935	c.4935G>A	c.(4933-4935)ggG>ggA	p.G1645G	RHOT2_ENST00000315082.4_5'Flank|WDR90_ENST00000315764.4_Silent_p.G196G|WDR90_ENST00000549091.1_Silent_p.G1647G|WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000547944.1_Silent_p.G244G			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1645										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CTTGGGATGGGGCGCTCCTGA	0.647																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(4939-4941)ggG>ggA		WD repeat domain 90							59.0	68.0	65.0					16																	716723		2163	4263	6426	SO:0001819	synonymous_variant	197335							g.chr16:716723G>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.4935G>A	16.37:g.716723G>A						WDR90_ENST00000547944.1_Silent_p.G244G|WDR90_ENST00000315764.4_Silent_p.G196G|WDR90_ENST00000293879.4_Silent_p.G1645G|WDR90_ENST00000547543.1_3'UTR	p.G1647G	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			39	5033	+		Hepatocellular(780;0.0218)	1645					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	ENST00000293879.4	37	c.4941G>A	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	G	5.354	0.250669	0.10130	.	.	ENSG00000161996	ENST00000551100	.	.	.	4.75	-1.47	0.08772	.	33.571500	0.00166	N	0.000000	T	0.18759	0.0450	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.07404	-1.0774	6	0.21014	T	0.42	.	2.3831	0.04359	0.1702:0.172:0.4515:0.2063	.	.	.	.	S	52	.	ENSP00000450308:G52S	G	+	1	0	WDR90	656724	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-2.095000	0.01350	0.066000	0.16515	0.549000	0.68633	GGC		0.647	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		19	67	0	0	0	1	0	19	67				
CLUH	23277	broad.mit.edu	37	17	2600086	2600086	+	Silent	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr17:2600086C>T	ENST00000570628.2	-	11	2103	c.1998G>A	c.(1996-1998)gaG>gaA	p.E666E	CLUH_ENST00000435359.1_Silent_p.E666E|CLUH_ENST00000538975.1_Silent_p.E666E			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	666					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											TGCTACCCTCCTCCTCACTTC	0.652																																						ENST00000570628.1																			0											c.(1996-1998)gaG>gaA		clustered mitochondria (cluA/CLU1) homolog							45.0	51.0	49.0					17																	2600086		2070	4213	6283	SO:0001819	synonymous_variant	23277							g.chr17:2600086C>T	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.1998G>A	17.37:g.2600086C>T						CLUH_ENST00000538975.1_Silent_p.E666E|CLUH_ENST00000435359.1_Silent_p.E666E|CLUH_ENST00000575014.1_Silent_p.E598E	p.E666E							11	2103	-								Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Silent	SNP	ENST00000570628.2	37	c.1998G>A	CCDS45572.1																																																																																				0.652	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		17	41	0	0	0	1	0	17	41				
DNAJA2	10294	broad.mit.edu	37	16	47005331	47005331	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr16:47005331C>T	ENST00000317089.5	-	3	507	c.292G>A	c.(292-294)Ggc>Agc	p.G98S	RP11-169E6.1_ENST00000562536.1_RNA	NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	98					positive regulation of cell proliferation (GO:0008284)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				CCCATGAAGCCGAACAATCCC	0.448																																						ENST00000317089.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(292-294)Ggc>Agc		DnaJ (Hsp40) homolog, subfamily A, member 2							157.0	153.0	155.0					16																	47005331		2203	4300	6503	SO:0001583	missense	10294				positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	g.chr16:47005331C>T	AF116720	CCDS10726.1	16q12.1	2011-09-02			ENSG00000069345	ENSG00000069345		"""Heat shock proteins / DNAJ (HSP40)"""	14884	protein-coding gene	gene with protein product		611322				9710638, 11147971	Standard	NM_005880		Approved	HIRIP4, DNAJ, CPR3, DNJ3	uc002eeo.2	O60884	OTTHUMG00000133104	ENST00000317089.5:c.292G>A	16.37:g.47005331C>T	ENSP00000314030:p.Gly98Ser						p.G98S	NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN			3	507	-		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)	98					B2R7L7|O14711	Missense_Mutation	SNP	ENST00000317089.5	37	c.292G>A	CCDS10726.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168744	0.57584	.	.	ENSG00000069345	ENST00000317089	T	0.73575	-0.76	5.47	3.31	0.37934	Heat shock protein DnaJ, N-terminal (1);	0.186209	0.64402	N	0.000016	T	0.52517	0.1739	L	0.35288	1.05	0.58432	D	0.999995	P	0.35982	0.531	B	0.26094	0.066	T	0.45629	-0.9248	10	0.13853	T	0.58	-25.6245	6.2573	0.20881	0.0:0.663:0.0:0.337	.	98	O60884	DNJA2_HUMAN	S	98	ENSP00000314030:G98S	ENSP00000314030:G98S	G	-	1	0	DNAJA2	45562832	1.000000	0.71417	0.966000	0.40874	0.998000	0.95712	3.860000	0.55995	1.308000	0.44962	0.561000	0.74099	GGC		0.448	DNAJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256769.2			20	125	0	0	0	1	0	20	125				
MUC6	4588	broad.mit.edu	37	11	1028255	1028255	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr11:1028255G>T	ENST00000421673.2	-	14	1774	c.1724C>A	c.(1723-1725)aCt>aAt	p.T575N		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	575	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAGGGGTCAGTCTCACGCTC	0.667																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1723-1725)aCt>aAt		mucin 6, oligomeric mucus/gel-forming							22.0	27.0	25.0					11																	1028255		1946	4119	6065	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1028255G>T	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.1724C>A	11.37:g.1028255G>T	ENSP00000406861:p.Thr575Asn						p.T575N	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	14	1774	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	575			VWFD 2.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.1724C>A	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.329411	0.41197	.	.	ENSG00000184956	ENST00000421673	T	0.19532	2.14	4.52	1.43	0.22495	von Willebrand factor, type D domain (1);	0.000000	0.31636	U	0.007310	T	0.12305	0.0299	L	0.46885	1.475	0.09310	N	0.999999	P	0.44006	0.824	B	0.34418	0.182	T	0.23691	-1.0181	10	0.22109	T	0.4	.	5.5318	0.16989	0.2394:0.1435:0.6171:0.0	.	575	Q6W4X9	MUC6_HUMAN	N	575	ENSP00000406861:T575N	ENSP00000406861:T575N	T	-	2	0	MUC6	1018255	0.650000	0.27331	0.841000	0.33234	0.977000	0.68977	1.736000	0.38187	0.093000	0.17368	0.491000	0.48974	ACT		0.667	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		3	17	1	0	0.00909568	1	0.00915114	3	17				
EPHA10	284656	broad.mit.edu	37	1	38227628	38227628	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:38227628C>T	ENST00000373048.4	-	3	298	c.299G>A	c.(298-300)cGc>cAc	p.R100H	EPHA10_ENST00000427468.2_Missense_Mutation_p.R100H|EPHA10_ENST00000319637.6_Missense_Mutation_p.R100H	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	100	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACGAAGATGCGCTGCCCGCG	0.607																																						ENST00000373048.4																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(298-300)cGc>cAc		EPH receptor A10							92.0	86.0	88.0					1																	38227628		2203	4300	6503	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38227628C>T	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.299G>A	1.37:g.38227628C>T	ENSP00000362139:p.Arg100His					EPHA10_ENST00000319637.6_Missense_Mutation_p.R100H|EPHA10_ENST00000427468.2_Missense_Mutation_p.R100H	p.R100H	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN			3	298	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	100					A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.299G>A	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867428	0.91511	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.06449	3.3;3.3;3.3	4.47	4.47	0.54385	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.40728	N	0.001040	T	0.29389	0.0732	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.11494	-1.0585	10	0.87932	D	0	.	16.6276	0.84975	0.0:1.0:0.0:0.0	.	100;100	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	H	100	ENSP00000397746:R100H;ENSP00000362139:R100H;ENSP00000316395:R100H	ENSP00000316395:R100H	R	-	2	0	EPHA10	38000215	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.593000	0.82686	2.448000	0.82819	0.549000	0.68633	CGC		0.607	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		4	165	0	0	0	1	0	4	165				
RHOA	387	broad.mit.edu	37	3	49395482	49395482	+	IGR	SNP	G	G	C	rs201944086	byFrequency	TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr3:49395482G>C	ENST00000418115.1	-	0	2031				GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419783.1_Missense_Mutation_p.P77R|GPX1_ENST00000419349.1_Missense_Mutation_p.P77R	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A						actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CTGGTTGCACGGGAAGCCGAG	0.726																																						ENST00000419783.1																			0				breast(1)|large_intestine(2)|lung(1)	4						c.(229-231)cCg>cGg		glutathione peroxidase 1	Glutathione(DB00143)						11.0	14.0	13.0					3																	49395482		1848	4061	5909	SO:0001628	intergenic_variant	2876				anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding	g.chr3:49395482G>C	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838		3.37:g.49395482G>C						GPX1_ENST00000419349.1_Missense_Mutation_p.P77R|GPX1_ENST00000496791.1_5'UTR	p.P77R	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	551	-			77					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.230C>G	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	G	36	5.745728	0.96882	.	.	ENSG00000233276	ENST00000419783;ENST00000419349	T;T	0.25085	1.82;1.82	5.88	5.88	0.94601	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.63070	0.2480	M	0.93150	3.385	0.80722	D	1	D;D	0.71674	0.998;0.988	D;P	0.68483	0.958;0.891	T	0.72279	-0.4340	10	0.87932	D	0	.	18.8152	0.92075	0.0:0.0:1.0:0.0	.	77;77	E9PAS1;P07203	.;GPX1_HUMAN	R	77	ENSP00000407375:P77R;ENSP00000391316:P77R	ENSP00000391316:P77R	P	-	2	0	GPX1	49370486	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.875000	0.87205	2.788000	0.95919	0.555000	0.69702	CCG		0.726	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		3	19	0	0	0	1	0	3	19				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	73	0	0	0	1	0	5	73				
ASXL2	55252	broad.mit.edu	37	2	25966250	25966250	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr2:25966250C>T	ENST00000435504.4	-	13	3249	c.2956G>A	c.(2956-2958)Gag>Aag	p.E986K	ASXL2_ENST00000272341.4_Intron|ASXL2_ENST00000404843.1_Intron|ASXL2_ENST00000336112.4_Missense_Mutation_p.E958K			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	986					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCTTTCCTCTTTTGCAGTC	0.478																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(2956-2958)Gag>Aag		additional sex combs like 2 (Drosophila)							80.0	80.0	80.0					2																	25966250		1910	4136	6046	SO:0001583	missense	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25966250C>T			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.2956G>A	2.37:g.25966250C>T	ENSP00000391447:p.Glu986Lys					ASXL2_ENST00000336112.4_Missense_Mutation_p.E958K|ASXL2_ENST00000404843.1_Intron|ASXL2_ENST00000272341.4_Intron	p.E986K			Q76L83	ASXL2_HUMAN			13	3249	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		986					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37	c.2956G>A		.	.	.	.	.	.	.	.	.	.	C	9.420	1.082743	0.20309	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	T;T	0.25579	1.79;1.79	5.7	5.7	0.88788	.	0.411367	0.29609	N	0.011666	T	0.28532	0.0706	M	0.64997	1.995	0.80722	D	1	P	0.46395	0.877	B	0.40741	0.339	T	0.06789	-1.0807	10	0.87932	D	0	-12.5737	11.8128	0.52192	0.0:0.9198:0.0:0.0802	.	986	Q76L83	ASXL2_HUMAN	K	986;958	ENSP00000391447:E986K;ENSP00000337250:E958K	ENSP00000337250:E958K	E	-	1	0	ASXL2	25819754	0.927000	0.31430	0.979000	0.43373	0.046000	0.14306	2.723000	0.47277	2.700000	0.92200	0.563000	0.77884	GAG		0.478	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		11	109	0	0	0	1	0	11	109				
TXLNA	200081	broad.mit.edu	37	1	32647005	32647005	+	Missense_Mutation	SNP	A	A	G			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:32647005A>G	ENST00000373609.1	+	2	613	c.332A>G	c.(331-333)gAg>gGg	p.E111G	TXLNA_ENST00000373610.3_Missense_Mutation_p.E111G			P40222	TXLNA_HUMAN	taxilin alpha	111					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|exocytosis (GO:0006887)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	cytokine activity (GO:0005125)|high molecular weight B cell growth factor receptor binding (GO:0030372)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GAAGATGCAGAGAAGTCCCGG	0.567																																						ENST00000373609.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(331-333)gAg>gGg		taxilin alpha							46.0	45.0	45.0					1																	32647005		2203	4300	6503	SO:0001583	missense	200081				cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding	g.chr1:32647005A>G	AF516206	CCDS353.1	1p35	2012-02-21			ENSG00000084652	ENSG00000084652			30685	protein-coding gene	gene with protein product		608676				15184072, 14623251	Standard	NM_175852		Approved	DKFZp451J0118	uc001bui.3	P40222	OTTHUMG00000004423	ENST00000373609.1:c.332A>G	1.37:g.32647005A>G	ENSP00000362711:p.Glu111Gly					TXLNA_ENST00000373610.3_Missense_Mutation_p.E111G	p.E111G			P40222	TXLNA_HUMAN			2	613	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	111					D3DPP6|Q5TFJ6|Q66K62|Q86T54|Q86T85|Q86T86|Q86Y86|Q86YW3|Q8N2Y3	Missense_Mutation	SNP	ENST00000373609.1	37	c.332A>G	CCDS353.1	.	.	.	.	.	.	.	.	.	.	A	16.50	3.141327	0.57044	.	.	ENSG00000084652	ENST00000373610;ENST00000373609	T;T	0.37915	1.17;1.17	4.9	4.9	0.64082	.	0.533626	0.19618	N	0.109962	T	0.34978	0.0916	M	0.66939	2.045	0.27867	N	0.940166	B	0.21606	0.058	B	0.14578	0.011	T	0.24083	-1.0170	10	0.41790	T	0.15	-11.0759	9.1788	0.37129	0.9168:0.0:0.0832:0.0	.	111	P40222	TXLNA_HUMAN	G	111	ENSP00000362712:E111G;ENSP00000362711:E111G	ENSP00000362711:E111G	E	+	2	0	TXLNA	32419592	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.252000	0.65445	1.987000	0.57996	0.529000	0.55759	GAG		0.567	TXLNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012844.1	NM_175852		7	28	0	0	0	1	0	7	28				
INCENP	3619	broad.mit.edu	37	11	61897977	61897977	+	Silent	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr11:61897977C>T	ENST00000394818.3	+	4	1180	c.978C>T	c.(976-978)gcC>gcT	p.A326A	INCENP_ENST00000278849.4_Silent_p.A326A	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	326					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTCTGGTGGCCAAACAGGAAA	0.622																																						ENST00000394818.3																			0				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(976-978)gcC>gcT		inner centromere protein antigens 135/155kDa							66.0	67.0	67.0					11																	61897977		2202	4299	6501	SO:0001819	synonymous_variant	3619				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding	g.chr11:61897977C>T	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.978C>T	11.37:g.61897977C>T						INCENP_ENST00000278849.4_Silent_p.A326A	p.A326A	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN			4	1180	+			326					A8MQD2|Q5Y192	Silent	SNP	ENST00000394818.3	37	c.978C>T	CCDS44624.1																																																																																				0.622	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		17	104	0	0	0	1	0	17	104				
GATA3	2625	broad.mit.edu	37	10	8106031	8106031	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr10:8106031G>A	ENST00000346208.3	+	4	1306	c.851G>A	c.(850-852)tGc>tAc	p.C284Y	GATA3_ENST00000379328.3_Missense_Mutation_p.C285Y|GATA3_ENST00000461472.1_Intron			P23771	GATA3_HUMAN	GATA binding protein 3	284					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CACTACCTGTGCAACGCCTGC	0.567			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															ENST00000379328.3				Rec	yes		10	10p15	2625	"""F, N, S"""	GATA binding protein 3	yes	"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""	E			breast		0				NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						c.(853-855)tGc>tAc		GATA binding protein 3							136.0	110.0	119.0					10																	8106031		2203	4300	6503	SO:0001583	missense	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8106031G>A	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.851G>A	10.37:g.8106031G>A	ENSP00000341619:p.Cys284Tyr					GATA3_ENST00000346208.3_Missense_Mutation_p.C284Y|GATA3_ENST00000461472.1_Intron	p.C285Y	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN			4	1422	+			284	NA -> RR (in Ref. 4; AAA35870).				Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	c.854G>A	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298602	0.81025	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.99985	-12.07;-12.07	5.59	5.59	0.84812	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (5);	0.000000	0.85682	D	0.000000	D	0.99994	0.9999	H	0.99026	4.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.99991	1.4410	10	0.87932	D	0	-10.6287	19.6056	0.95580	0.0:0.0:1.0:0.0	.	284;285	P23771;P23771-2	GATA3_HUMAN;.	Y	285;284	ENSP00000368632:C285Y;ENSP00000341619:C284Y	ENSP00000341619:C284Y	C	+	2	0	GATA3	8146037	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	9.869000	0.99810	2.625000	0.88918	0.655000	0.94253	TGC		0.567	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		18	108	0	0	0	1	0	18	108				
PCCA	5095	broad.mit.edu	37	13	100959482	100959482	+	Missense_Mutation	SNP	A	A	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr13:100959482A>T	ENST00000376285.1	+	15	1359	c.1321A>T	c.(1321-1323)Att>Ttt	p.I441F	PCCA_ENST00000376279.3_Missense_Mutation_p.I441F|PCCA_ENST00000376286.4_Missense_Mutation_p.I415F	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	441	Biotin carboxylation.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	AGGAAGTGATATTAGCATTTA	0.299																																						ENST00000376285.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26						c.(1321-1323)Att>Ttt		propionyl CoA carboxylase, alpha polypeptide	Biotin(DB00121)						96.0	95.0	95.0					13																	100959482		2203	4300	6503	SO:0001583	missense	5095				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	g.chr13:100959482A>T	X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"""propionyl Coenzyme A carboxylase, alpha polypeptide"""			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.1321A>T	13.37:g.100959482A>T	ENSP00000365462:p.Ile441Phe					PCCA_ENST00000376279.3_Missense_Mutation_p.I441F|PCCA_ENST00000376286.4_Missense_Mutation_p.I415F	p.I441F	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN			15	1359	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		441			Biotin carboxylation.		B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Missense_Mutation	SNP	ENST00000376285.1	37	c.1321A>T	CCDS9496.2	.	.	.	.	.	.	.	.	.	.	A	28.3	4.908698	0.92107	.	.	ENSG00000175198	ENST00000376286;ENST00000376279;ENST00000376285;ENST00000376254	D;D;D	0.89810	-2.57;-2.57;-2.57	5.75	5.75	0.90469	Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);Biotin carboxylase, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96537	0.8870	H	0.96889	3.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.998	D	0.97868	1.0284	10	0.87932	D	0	-16.5582	16.3473	0.83146	1.0:0.0:0.0:0.0	.	441;415;441	C9JPQ8;P05165-2;P05165	.;.;PCCA_HUMAN	F	415;441;441;32	ENSP00000365463:I415F;ENSP00000365456:I441F;ENSP00000365462:I441F	ENSP00000365430:I32F	I	+	1	0	PCCA	99757483	1.000000	0.71417	0.988000	0.46212	0.987000	0.75469	8.399000	0.90197	2.320000	0.78422	0.528000	0.53228	ATT		0.299	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2			8	27	0	0	0	1	0	8	27				
LOC150776	150776	broad.mit.edu	37	2	132275459	132275459	+	RNA	SNP	G	G	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr2:132275459G>A	ENST00000438378.2	+	0	1732					NR_026922.1																						AGATGATTCAGAAAGGTAAGT	0.612																																						ENST00000438378.2																			0																																																			150776							g.chr2:132275459G>A																													2.37:g.132275459G>A								NR_026922.1						0	1732	+									RNA	SNP	ENST00000438378.2	37																																																																																						0.612	AC093838.4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331819.7			3	26	0	0	0	1	0	3	26				
PHC2	1912	broad.mit.edu	37	1	33832911	33832911	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:33832911G>A	ENST00000257118.5	-	6	835	c.782C>T	c.(781-783)cCt>cTt	p.P261L	PHC2_ENST00000431992.1_Missense_Mutation_p.P232L|PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000419414.2_Missense_Mutation_p.P261L	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	261					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGTAGGCAGAGGCTGGCTACC	0.637											OREG0013344	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000257118.5																			0				autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(781-783)cCt>cTt		polyhomeotic homolog 2 (Drosophila)							57.0	69.0	65.0					1																	33832911		2203	4300	6503	SO:0001583	missense	1912				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	g.chr1:33832911G>A	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.782C>T	1.37:g.33832911G>A	ENSP00000257118:p.Pro261Leu		OREG0013344	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	843	PHC2_ENST00000431992.1_Missense_Mutation_p.P232L|PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000419414.2_Missense_Mutation_p.P261L	p.P261L	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN			6	835	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	261					A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	ENST00000257118.5	37	c.782C>T	CCDS378.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321393	0.60634	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000419414	T;T;T	0.32272	1.86;1.46;1.89	5.74	5.74	0.90152	.	0.123188	0.56097	D	0.000034	T	0.53674	0.1811	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	T	0.47407	-0.9120	10	0.40728	T	0.16	-10.7959	15.4198	0.75003	0.0:0.0:1.0:0.0	.	261;232;261	A8KA40;B7ZLY0;Q8IXK0	.;.;PHC2_HUMAN	L	232;261;261	ENSP00000389436:P232L;ENSP00000257118:P261L;ENSP00000391440:P261L	ENSP00000257118:P261L	P	-	2	0	PHC2	33605498	0.997000	0.39634	1.000000	0.80357	0.677000	0.39632	1.586000	0.36611	2.702000	0.92279	0.655000	0.94253	CCT		0.637	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		15	134	0	0	0	1	0	15	134				
CHML	1122	broad.mit.edu	37	1	241799085	241799085	+	De_novo_Start_InFrame	SNP	G	G	A	rs140161557		TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:241799085G>A	ENST00000366553.1	-	0	147				OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)						intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			AAGTAACAGCGTCTGGTGACA	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		19137	0.0		0.001	False		,,,				2504	0.0					ENST00000366553.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26								choroideremia-like (Rab escort protein 2)		G	,	1,4385		0,1,2192	37.0	38.0	38.0		,	-1.0	0.0	1	dbSNP_134	38	0,8590		0,0,4295	no	utr-5,intron	CHML,OPN3	NM_001821.3,NM_014322.2	,	0,1,6487	AA,AG,GG		0.0,0.0228,0.0077	,	,	241799085	1,12975	2193	4295	6488			1122				intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241799085G>A	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690		1.37:g.241799085G>A						OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron		NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		0	147	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)						B2RAB9|Q17RE0|Q9H1Y4	Translation_Start_Site	SNP	ENST00000366553.1	37		CCDS31073.1																																																																																				0.438	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		7	48	0	0	0	1	0	7	48				
SHOC2	8036	broad.mit.edu	37	10	112724466	112724466	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr10:112724466C>A	ENST00000369452.4	+	2	695	c.350C>A	c.(349-351)tCa>tAa	p.S117*	SHOC2_ENST00000489390.1_Intron|SHOC2_ENST00000265277.5_Nonsense_Mutation_p.S117*	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	117					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		ATATTGCCATCATCAATCAAA	0.383																																						ENST00000369452.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17						c.(349-351)tCa>tAa		soc-2 suppressor of clear homolog (C. elegans)							83.0	83.0	83.0					10																	112724466		2203	4300	6503	SO:0001587	stop_gained	8036				fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity	g.chr10:112724466C>A	AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.350C>A	10.37:g.112724466C>A	ENSP00000358464:p.Ser117*					SHOC2_ENST00000265277.5_Nonsense_Mutation_p.S117*|SHOC2_ENST00000489390.1_Intron	p.S117*	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN		Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)	2	695	+			117					A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Nonsense_Mutation	SNP	ENST00000369452.4	37	c.350C>A	CCDS7568.1	.	.	.	.	.	.	.	.	.	.	C	38	6.937145	0.97948	.	.	ENSG00000108061	ENST00000265277;ENST00000369452	.	.	.	5.85	5.85	0.93711	.	0.248249	0.42294	D	0.000721	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3805	0.60764	0.0:0.9285:0.0:0.0715	.	.	.	.	X	117	.	ENSP00000265277:S117X	S	+	2	0	SHOC2	112714456	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.091000	0.71406	2.771000	0.95319	0.561000	0.74099	TCA		0.383	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	NM_007373		7	89	1	0	0.248553	1	0.248553	7	89				
NPR1	4881	broad.mit.edu	37	1	153655867	153655867	+	Missense_Mutation	SNP	A	A	C			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:153655867A>C	ENST00000368680.3	+	6	1751	c.1279A>C	c.(1279-1281)Aat>Cat	p.N427H		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	427					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	ACTGAACTACAATGGGACTTC	0.597																																					Pancreas(141;1349 1870 15144 15830 40702)	ENST00000368680.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1279-1281)Aat>Cat		natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)						66.0	56.0	59.0					1																	153655867		2203	4300	6503	SO:0001583	missense	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153655867A>C	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.1279A>C	1.37:g.153655867A>C	ENSP00000357669:p.Asn427His						p.N427H	NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		6	1751	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		427					B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	c.1279A>C	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	A	13.39	2.223804	0.39300	.	.	ENSG00000169418	ENST00000368680	T	0.75938	-0.98	5.29	5.29	0.74685	.	0.126861	0.49305	D	0.000146	T	0.43700	0.1259	N	0.25426	0.745	0.80722	D	1	B	0.29766	0.256	B	0.24155	0.051	T	0.46596	-0.9180	10	0.16896	T	0.51	.	13.4746	0.61301	1.0:0.0:0.0:0.0	.	427	P16066	ANPRA_HUMAN	H	427	ENSP00000357669:N427H	ENSP00000357669:N427H	N	+	1	0	NPR1	151922491	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.527000	0.73803	2.130000	0.65690	0.533000	0.62120	AAT		0.597	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		9	42	0	0	0	1	0	9	42				
PRSS27	83886	broad.mit.edu	37	16	2764296	2764296	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr16:2764296C>T	ENST00000302641.3	-	4	332	c.278G>A	c.(277-279)aGg>aAg	p.R93K	AC092117.1_ENST00000410123.1_RNA	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	93	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						CACTAGCTGCCTTGCCCCCAG	0.692																																						ENST00000302641.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						c.(277-279)aGg>aAg		protease, serine 27							27.0	25.0	26.0					16																	2764296		2198	4300	6498	SO:0001583	missense	83886				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:2764296C>T	AB056161	CCDS10476.1	16p13.3	2010-05-07			ENSG00000172382	ENSG00000172382		"""Serine peptidases / Serine peptidases"""	15475	protein-coding gene	gene with protein product		608018					Standard	NM_031948		Approved	MPN, pancreasin, CAPH2, marapsin	uc002crf.3	Q9BQR3	OTTHUMG00000128929	ENST00000302641.3:c.278G>A	16.37:g.2764296C>T	ENSP00000306390:p.Arg93Lys						p.R93K	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN			4	332	-			93			Peptidase S1.			Missense_Mutation	SNP	ENST00000302641.3	37	c.278G>A	CCDS10476.1	.	.	.	.	.	.	.	.	.	.	.	9.762	1.170332	0.21621	.	.	ENSG00000172382	ENST00000302641;ENST00000543965	D	0.88509	-2.39	5.17	3.13	0.36017	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.146929	0.30338	N	0.009844	T	0.79975	0.4539	N	0.17474	0.49	0.21915	N	0.999479	B;P	0.37573	0.447;0.6	B;B	0.42495	0.301;0.389	T	0.68773	-0.5320	10	0.32370	T	0.25	.	5.9911	0.19465	0.3554:0.5551:0.0:0.0895	.	93;57	Q9BQR3;B3KP25	PRS27_HUMAN;.	K	93;57	ENSP00000306390:R93K	ENSP00000306390:R93K	R	-	2	0	PRSS27	2704297	0.000000	0.05858	0.948000	0.38648	0.563000	0.35712	-0.455000	0.06762	0.522000	0.28464	0.462000	0.41574	AGG		0.692	PRSS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250908.1	NM_031948		3	14	0	0	0	1	0	3	14				
TACC1	6867	broad.mit.edu	37	8	38677367	38677367	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr8:38677367G>A	ENST00000317827.4	+	3	984	c.605G>A	c.(604-606)gGg>gAg	p.G202E	TACC1_ENST00000519416.1_Missense_Mutation_p.G7E|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520611.1_5'Flank|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000443286.2_Missense_Mutation_p.G218E|TACC1_ENST00000379931.3_Missense_Mutation_p.G202E|TACC1_ENST00000520973.1_Missense_Mutation_p.G7E|TACC1_ENST00000520340.1_Missense_Mutation_p.G166E|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000520615.1_Missense_Mutation_p.G7E|TACC1_ENST00000518415.1_Missense_Mutation_p.G157E	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	202	Interaction with TDRD7.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			GGCAGCATGGGGGTCACCCTC	0.592																																						ENST00000379931.3																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17						c.(604-606)gGg>gAg		transforming, acidic coiled-coil containing protein 1							42.0	46.0	44.0					8																	38677367		2203	4300	6503	SO:0001583	missense	6867				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding	g.chr8:38677367G>A	AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.605G>A	8.37:g.38677367G>A	ENSP00000321703:p.Gly202Glu					TACC1_ENST00000520973.1_Missense_Mutation_p.G7E|TACC1_ENST00000519416.1_Missense_Mutation_p.G7E|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000520615.1_Missense_Mutation_p.G7E|TACC1_ENST00000520340.1_Missense_Mutation_p.G166E|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000317827.4_Missense_Mutation_p.G202E|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000443286.2_Missense_Mutation_p.G218E|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000518415.1_Missense_Mutation_p.G157E	p.G202E			O75410	TACC1_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)		3	984	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	202			Interaction with TDRD7.		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	ENST00000317827.4	37	c.605G>A	CCDS6109.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.917519	0.52546	.	.	ENSG00000147526	ENST00000519416;ENST00000520615;ENST00000443388;ENST00000443286;ENST00000518415;ENST00000522904;ENST00000317827;ENST00000379931;ENST00000521528;ENST00000520973;ENST00000521935;ENST00000524193	T;T;T;T;T;T;T;T;T;T	0.51574	2.65;2.65;3.02;3.01;2.84;3.03;3.03;2.66;1.0;0.7	5.01	3.09	0.35607	.	0.231307	0.36234	N	0.002707	T	0.53077	0.1774	M	0.61703	1.905	0.30131	N	0.804813	D;B;B;B;D;D;D;D	0.89917	1.0;0.192;0.192;0.192;0.992;0.986;0.997;0.992	D;B;B;B;P;P;P;D	0.71656	0.974;0.033;0.033;0.033;0.9;0.796;0.902;0.925	T	0.52320	-0.8591	10	0.11182	T	0.66	-14.8159	3.2504	0.06812	0.2467:0.0:0.5537:0.1996	.	7;7;7;218;202;202;7;157	B7Z3G3;E7EVI4;B4DH49;B4E302;O75410-2;O75410;E7ET87;O75410-7	.;.;.;.;.;TACC1_HUMAN;.;.	E	7;7;7;218;157;174;202;202;7;7;7;7	ENSP00000428687:G7E;ENSP00000428450:G7E;ENSP00000393647:G218E;ENSP00000428706:G157E;ENSP00000430355:G174E;ENSP00000321703:G202E;ENSP00000369263:G202E;ENSP00000430959:G7E;ENSP00000428175:G7E;ENSP00000429330:G7E	ENSP00000321703:G202E	G	+	2	0	TACC1	38796524	0.030000	0.19436	0.916000	0.36221	0.259000	0.26198	0.038000	0.13862	1.101000	0.41535	0.563000	0.77884	GGG		0.592	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	NM_006283		4	126	0	0	0	1	0	4	126				
TCF12	6938	broad.mit.edu	37	15	57545575	57545575	+	Missense_Mutation	SNP	T	T	C			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr15:57545575T>C	ENST00000267811.5	+	15	1608	c.1304T>C	c.(1303-1305)tTa>tCa	p.L435S	TCF12_ENST00000333725.5_Missense_Mutation_p.L459S|TCF12_ENST00000559710.1_Missense_Mutation_p.L69S|TCF12_ENST00000343827.3_Missense_Mutation_p.L265S|TCF12_ENST00000559703.1_Missense_Mutation_p.L93S|TCF12_ENST00000438423.2_Missense_Mutation_p.L459S|TCF12_ENST00000557843.1_Missense_Mutation_p.L435S|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000543579.1_Missense_Mutation_p.L289S|TCF12_ENST00000452095.2_Missense_Mutation_p.L455S|TCF12_ENST00000537840.1_Missense_Mutation_p.L199S	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	435					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ATACATAGTTTATTGGGACCA	0.458			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000267811.5				Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(1303-1305)tTa>tCa		transcription factor 12							178.0	135.0	149.0					15																	57545575		2192	4292	6484	SO:0001583	missense	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57545575T>C	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1304T>C	15.37:g.57545575T>C	ENSP00000267811:p.Leu435Ser					TCF12_ENST00000557843.1_Missense_Mutation_p.L435S|TCF12_ENST00000537840.1_Missense_Mutation_p.L199S|TCF12_ENST00000438423.2_Missense_Mutation_p.L459S|TCF12_ENST00000543579.1_Missense_Mutation_p.L289S|TCF12_ENST00000343827.3_Missense_Mutation_p.L265S|TCF12_ENST00000452095.2_Missense_Mutation_p.L455S|TCF12_ENST00000559703.1_Missense_Mutation_p.L93S|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000333725.5_Missense_Mutation_p.L459S|TCF12_ENST00000559710.1_Missense_Mutation_p.L69S	p.L435S	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	15	1608	+		Colorectal(260;0.0907)	435					Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	ENST00000267811.5	37	c.1304T>C	CCDS10159.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.221409	0.79464	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579;ENST00000537840;ENST00000343827;ENST00000543417	T;T;T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1;0.1;0.1	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.78496	0.4292	M	0.84219	2.685	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.998;1.0;1.0;0.999;0.998;0.999	D;D;D;D;D;D;D;D;D;D	0.91635	0.997;0.994;0.997;0.982;0.99;0.999;0.999;0.996;0.991;0.996	T	0.80569	-0.1324	10	0.54805	T	0.06	-0.5232	16.5655	0.84588	0.0:0.0:0.0:1.0	.	455;69;289;199;455;487;289;265;435;459	B4DGI9;B4DZP2;B4DH96;B4E1W1;E9PGY0;F5H6Z6;F5GY10;Q99081-2;Q99081;Q99081-3	.;.;.;.;.;.;.;.;HTF4_HUMAN;.	S	487;435;459;455;459;289;199;265;48	ENSP00000267811:L435S;ENSP00000388940:L459S;ENSP00000396881:L455S;ENSP00000331057:L459S;ENSP00000440017:L289S;ENSP00000444696:L199S;ENSP00000342459:L265S	ENSP00000267811:L435S	L	+	2	0	TCF12	55332867	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.000000	0.88501	2.302000	0.77476	0.533000	0.62120	TTA		0.458	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		8	71	0	0	0	1	0	8	71				
DNAH10	196385	broad.mit.edu	37	12	124414967	124414967	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr12:124414967G>A	ENST00000409039.3	+	72	12302	c.12277G>A	c.(12277-12279)Gcc>Acc	p.A4093T	CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_3'UTR	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4093					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGGAGGACGGGCCATCGACAG	0.562																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(12277-12279)Gcc>Acc		dynein, axonemal, heavy chain 10							43.0	42.0	42.0					12																	124414967		1903	4134	6037	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124414967G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.12277G>A	12.37:g.124414967G>A	ENSP00000386770:p.Ala4093Thr					CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_3'UTR	p.A4093T	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	72	12302	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		4093					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.12277G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	26.0	4.695711	0.88830	.	.	ENSG00000197653	ENST00000409039	T	0.08370	3.1	5.86	5.86	0.93980	Dynein heavy chain (1);	0.126462	0.53938	D	0.000051	T	0.19087	0.0458	M	0.62723	1.935	0.80722	D	1	P	0.41188	0.741	P	0.45660	0.489	T	0.00068	-1.2140	10	0.87932	D	0	.	20.1727	0.98161	0.0:0.0:1.0:0.0	.	4093	Q8IVF4	DYH10_HUMAN	T	4093	ENSP00000386770:A4093T	ENSP00000386770:A4093T	A	+	1	0	DNAH10	122980920	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.843000	0.99491	2.757000	0.94681	0.655000	0.94253	GCC		0.562	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			3	29	0	0	0	1	0	3	29				
WDR90	197335	broad.mit.edu	37	16	711364	711364	+	Missense_Mutation	SNP	G	G	A	rs540761626		TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr16:711364G>A	ENST00000293879.4	+	30	3536	c.3536G>A	c.(3535-3537)cGa>cAa	p.R1179Q	WDR90_ENST00000549091.1_Missense_Mutation_p.R1179Q			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1179										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GCCTCGGGCCGAAGCAGCACG	0.682													G|||	1	0.000199681	0.0	0.0	5008	,	,		13034	0.0		0.0	False		,,,				2504	0.001					ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(3535-3537)cGa>cAa		WD repeat domain 90							32.0	39.0	36.0					16																	711364		2162	4240	6402	SO:0001583	missense	197335							g.chr16:711364G>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.3536G>A	16.37:g.711364G>A	ENSP00000293879:p.Arg1179Gln					WDR90_ENST00000293879.4_Missense_Mutation_p.R1179Q	p.R1179Q	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			30	3628	+		Hepatocellular(780;0.0218)	1179					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.3536G>A	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.527269	0.27299	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.39592	1.07;1.56	5.27	-0.419	0.12340	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	1.960720	0.02441	U	0.084512	T	0.37293	0.0998	L	0.49640	1.575	0.09310	N	0.999997	B;B	0.15719	0.012;0.014	B;B	0.10450	0.005;0.004	T	0.20638	-1.0269	10	0.46703	T	0.11	.	4.7736	0.13167	0.4358:0.2961:0.2682:0.0	.	1179;1179	F8VUX9;Q96KV7	.;WDR90_HUMAN	Q	1179	ENSP00000448122:R1179Q;ENSP00000293879:R1179Q	ENSP00000293879:R1179Q	R	+	2	0	WDR90	651365	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.592000	0.23984	-0.059000	0.13154	0.555000	0.69702	CGA		0.682	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		11	42	0	0	0	1	0	11	42				
CLTCL1	8218	broad.mit.edu	37	22	19188854	19188854	+	Missense_Mutation	SNP	G	G	A	rs567114641		TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr22:19188854G>A	ENST00000263200.10	-	23	3823	c.3751C>T	c.(3751-3753)Cgg>Tgg	p.R1251W	CLTCL1_ENST00000427926.1_Missense_Mutation_p.R1251W|CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000353891.5_Missense_Mutation_p.R1251W	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1251	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TTCCACGTCCGGGTGCTGCTG	0.592			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(3751-3753)Cgg>Tgg		clathrin, heavy chain-like 1							26.0	33.0	31.0					22																	19188854		2112	4216	6328	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19188854G>A		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.3751C>T	22.37:g.19188854G>A	ENSP00000445677:p.Arg1251Trp					CLTCL1_ENST00000427926.1_Missense_Mutation_p.R1251W|CLTCL1_ENST00000353891.5_Missense_Mutation_p.R1251W|CLTCL1_ENST00000442042.2_5'UTR	p.R1251W	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			23	3823	-	Colorectal(54;0.0993)		1251			Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.3751C>T	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281277	0.23392	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.20200	2.09;2.09;2.09	3.2	-0.886	0.10590	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.280965	0.27039	N	0.021222	T	0.27866	0.0686	M	0.89904	3.07	0.49582	D	0.999807	B;B;B	0.27910	0.088;0.193;0.022	B;B;B	0.34652	0.125;0.187;0.068	T	0.11591	-1.0581	10	0.87932	D	0	-2.8752	2.7938	0.05394	0.1184:0.1257:0.5071:0.2487	.	1251;74;1251	P53675-2;B7Z1Z7;P53675	.;.;CLH2_HUMAN	W	1251	ENSP00000439662:R1251W;ENSP00000445677:R1251W;ENSP00000441158:R1251W	ENSP00000445677:R1251W	R	-	1	2	CLTCL1	17568854	0.448000	0.25681	0.034000	0.17996	0.168000	0.22595	0.384000	0.20668	0.067000	0.16545	0.491000	0.48974	CGG		0.592	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		5	24	0	0	0	1	0	5	24				
SLCO1C1	53919	broad.mit.edu	37	12	20868160	20868160	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr12:20868160C>T	ENST00000266509.2	+	6	985	c.617C>T	c.(616-618)cCt>cTt	p.P206L	SLCO1C1_ENST00000545102.1_Missense_Mutation_p.P88L|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.P206L|SLCO1C1_ENST00000540354.1_Intron|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.P206L	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	206					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	CCCATTCAGCCTTTGGGCATT	0.418																																						ENST00000381552.1																			0				NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(616-618)cCt>cTt		solute carrier organic anion transporter family, member 1C1							186.0	171.0	176.0					12																	20868160		2203	4300	6503	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20868160C>T	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.617C>T	12.37:g.20868160C>T	ENSP00000266509:p.Pro206Leu					SLCO1C1_ENST00000540354.1_Intron|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.P206L|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.P88L|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.P206L	p.P206L			Q9NYB5	SO1C1_HUMAN			6	985	+	Esophageal squamous(101;0.149)		206					B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.617C>T	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833715	0.91036	.	.	ENSG00000139155	ENST00000545604;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.99	4.99	0.66335	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.77725	0.4173	M	0.93854	3.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.84410	0.0565	10	0.87932	D	0	.	18.6411	0.91396	0.0:1.0:0.0:0.0	.	88;206;206	F5GZD6;Q5JPA4;Q9NYB5	.;.;SO1C1_HUMAN	L	206;206;206;88	ENSP00000444149:P206L;ENSP00000266509:P206L;ENSP00000370964:P206L;ENSP00000444527:P88L	ENSP00000266509:P206L	P	+	2	0	SLCO1C1	20759427	1.000000	0.71417	0.955000	0.39395	0.977000	0.68977	7.458000	0.80787	2.473000	0.83533	0.563000	0.77884	CCT		0.418	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		12	117	0	0	0	1	0	12	117				
KIF23	9493	broad.mit.edu	37	15	69718764	69718764	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr15:69718764C>T	ENST00000260363.4	+	9	1054	c.937C>T	c.(937-939)Ccc>Tcc	p.P313S	KIF23_ENST00000558585.1_Missense_Mutation_p.P130S|KIF23_ENST00000537891.1_Missense_Mutation_p.P130S|KIF23_ENST00000395392.2_Missense_Mutation_p.P313S|KIF23_ENST00000559279.1_Missense_Mutation_p.P313S|KIF23_ENST00000352331.4_Missense_Mutation_p.P313S	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	313	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						AGTTCAGGCTCCCTTGGATGC	0.398																																						ENST00000260363.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						c.(937-939)Ccc>Tcc		kinesin family member 23							204.0	193.0	196.0					15																	69718764		2199	4298	6497	SO:0001583	missense	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69718764C>T	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.937C>T	15.37:g.69718764C>T	ENSP00000260363:p.Pro313Ser					KIF23_ENST00000558585.1_Missense_Mutation_p.P130S|KIF23_ENST00000395392.2_Missense_Mutation_p.P313S|KIF23_ENST00000559279.1_Missense_Mutation_p.P313S|KIF23_ENST00000352331.4_Missense_Mutation_p.P313S|KIF23_ENST00000537891.1_Missense_Mutation_p.P130S	p.P313S	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN			9	1054	+			313			Kinesin-motor.		Q8WVP0	Missense_Mutation	SNP	ENST00000260363.4	37	c.937C>T	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906715	0.92107	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81	5.53	5.53	0.82687	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.81716	0.4881	L	0.38649	1.16	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.97110	0.984;0.998;1.0	T	0.82653	-0.0351	10	0.59425	D	0.04	.	18.4426	0.90671	0.0:1.0:0.0:0.0	.	130;313;313	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	S	313;313;313;130	ENSP00000260363:P313S;ENSP00000304978:P313S;ENSP00000378790:P313S;ENSP00000442969:P130S	ENSP00000260363:P313S	P	+	1	0	KIF23	67505818	1.000000	0.71417	0.982000	0.44146	0.962000	0.63368	7.700000	0.84556	2.588000	0.87417	0.655000	0.94253	CCC		0.398	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding				35	161	0	0	0	1	0	35	161				
SCNN1B	6338	broad.mit.edu	37	16	23364284	23364284	+	Silent	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr16:23364284C>T	ENST00000343070.2	+	3	650	c.474C>T	c.(472-474)ccC>ccT	p.P158P	SCNN1B_ENST00000307331.5_Silent_p.P203P|SCNN1B_ENST00000568085.1_Silent_p.P158P|SCNN1B_ENST00000568923.1_Silent_p.P158P	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	158					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	AACGGAACCCCCACCACCCCA	0.517																																						ENST00000343070.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(472-474)ccC>ccT		sodium channel, non-voltage-gated 1, beta subunit	Amiloride(DB00594)|Triamterene(DB00384)						166.0	139.0	148.0					16																	23364284		2197	4300	6497	SO:0001819	synonymous_variant	6338				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23364284C>T	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.474C>T	16.37:g.23364284C>T						SCNN1B_ENST00000568085.1_Silent_p.P158P|SCNN1B_ENST00000307331.5_Silent_p.P203P|SCNN1B_ENST00000568923.1_Silent_p.P158P	p.P158P	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	3	650	+			158					C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Silent	SNP	ENST00000343070.2	37	c.474C>T	CCDS10609.1																																																																																				0.517	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			14	133	0	0	0	1	0	14	133				
SPRED2	200734	broad.mit.edu	37	2	65541047	65541047	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr2:65541047C>T	ENST00000356388.4	-	6	1034	c.845G>A	c.(844-846)gGc>gAc	p.G282D	SPRED2_ENST00000443619.2_Missense_Mutation_p.G279D|SPRED2_ENST00000474228.1_5'Flank	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	282					inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						GCCCCCGCGGCCTTTGGGGTC	0.662																																						ENST00000356388.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						c.(844-846)gGc>gAc		sprouty-related, EVH1 domain containing 2							44.0	46.0	45.0					2																	65541047		2203	4300	6503	SO:0001583	missense	200734				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	g.chr2:65541047C>T	AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.845G>A	2.37:g.65541047C>T	ENSP00000348753:p.Gly282Asp					SPRED2_ENST00000443619.2_Missense_Mutation_p.G279D	p.G282D	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN			6	1034	-			282					A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	ENST00000356388.4	37	c.845G>A	CCDS33211.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076453	0.55753	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315;ENST00000421087	T;T;T;T	0.77358	-1.08;-1.08;-1.09;-0.13	5.75	5.75	0.90469	.	0.409334	0.27415	N	0.019461	T	0.72914	0.3520	M	0.61703	1.905	0.47778	D	0.99951	P;B	0.41313	0.745;0.001	B;B	0.41088	0.347;0.003	T	0.68051	-0.5511	10	0.12103	T	0.63	-26.1228	10.8158	0.46575	0.0:0.915:0.0:0.085	.	279;282	E9PEP0;Q7Z698	.;SPRE2_HUMAN	D	282;279;297;164	ENSP00000348753:G282D;ENSP00000393697:G279D;ENSP00000390595:G297D;ENSP00000407627:G164D	ENSP00000348753:G282D	G	-	2	0	SPRED2	65394551	1.000000	0.71417	0.673000	0.29887	0.978000	0.69477	4.116000	0.57871	2.716000	0.92895	0.655000	0.94253	GGC		0.662	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			26	88	0	0	0	1	0	26	88				
TMEM190	147744	broad.mit.edu	37	19	55889217	55889217	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr19:55889217G>A	ENST00000291934.3	+	4	286	c.268G>A	c.(268-270)Ggc>Agc	p.G90S	CTD-2105E13.15_ENST00000595064.1_RNA	NM_139172.1	NP_631911.1	Q8WZ59	TM190_HUMAN	transmembrane protein 190	90					hematopoietic progenitor cell differentiation (GO:0002244)	inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GACGTGCAGCGGCCTCCTCCT	0.697																																						ENST00000291934.3																			0				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5						c.(268-270)Ggc>Agc		transmembrane protein 190							48.0	50.0	50.0					19																	55889217		2203	4300	6503	SO:0001583	missense	147744					integral to membrane		g.chr19:55889217G>A	AF442729	CCDS33113.1	19q13.42	2011-09-28				ENSG00000160472			29632	protein-coding gene	gene with protein product						21273369	Standard	NM_139172		Approved	MDAC1	uc002qkt.1	Q8WZ59		ENST00000291934.3:c.268G>A	19.37:g.55889217G>A	ENSP00000291934:p.Gly90Ser					CTD-2105E13.15_ENST00000595064.1_RNA	p.G90S	NM_139172.1	NP_631911.1	Q8WZ59	TM190_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	4	286	+	Breast(117;0.191)		90					A6NJL5	Missense_Mutation	SNP	ENST00000291934.3	37	c.268G>A	CCDS33113.1	.	.	.	.	.	.	.	.	.	.	G	5.180	0.218731	0.09810	.	.	ENSG00000160472	ENST00000291934	.	.	.	3.31	2.25	0.28309	.	0.164142	0.28718	N	0.014363	T	0.12390	0.0301	N	0.14661	0.345	0.27011	N	0.964699	P	0.39964	0.697	B	0.33890	0.172	T	0.14476	-1.0471	9	0.17832	T	0.49	.	5.8308	0.18579	0.1607:0.0:0.8393:0.0	.	90	Q8WZ59	TM190_HUMAN	S	90	.	ENSP00000291934:G90S	G	+	1	0	TMEM190	60581029	0.127000	0.22367	0.985000	0.45067	0.080000	0.17528	1.173000	0.31920	0.705000	0.31890	0.313000	0.20887	GGC		0.697	TMEM190-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453042.1	NM_139172		9	63	0	0	0	1	0	9	63				
GRK7	131890	broad.mit.edu	37	3	141497350	141497350	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr3:141497350C>A	ENST00000264952.2	+	1	361	c.224C>A	c.(223-225)gCc>gAc	p.A75D		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	75	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						GACTTCCTAGCCACAGTGCCC	0.657																																						ENST00000264952.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(223-225)gCc>gAc		G protein-coupled receptor kinase 7							26.0	25.0	25.0					3																	141497350		2200	4292	6492	SO:0001583	missense	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141497350C>A		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.224C>A	3.37:g.141497350C>A	ENSP00000264952:p.Ala75Asp						p.A75D	NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN			1	361	+			75			RGS.			Missense_Mutation	SNP	ENST00000264952.2	37	c.224C>A	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	C	1.448	-0.565723	0.03910	.	.	ENSG00000114124	ENST00000264952	T	0.01902	4.57	4.5	4.5	0.54988	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.192033	0.44688	D	0.000433	T	0.02418	0.0074	L	0.37630	1.12	0.35749	D	0.819325	B	0.15473	0.013	B	0.17433	0.018	T	0.46034	-0.9220	10	0.15952	T	0.53	-16.9623	12.3285	0.55024	0.2156:0.7844:0.0:0.0	.	75	Q8WTQ7	GRK7_HUMAN	D	75	ENSP00000264952:A75D	ENSP00000264952:A75D	A	+	2	0	GRK7	142980040	1.000000	0.71417	0.651000	0.29564	0.158000	0.22134	3.040000	0.49799	2.033000	0.60031	0.655000	0.94253	GCC		0.657	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		12	51	1	0	3.07112e-06	1	3.29048e-06	12	51				
DGKZ	8525	broad.mit.edu	37	11	46394044	46394044	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr11:46394044G>T	ENST00000454345.1	+	12	1683	c.1558G>T	c.(1558-1560)Gga>Tga	p.G520*	DGKZ_ENST00000318201.8_Nonsense_Mutation_p.G309*|DGKZ_ENST00000532868.2_Nonsense_Mutation_p.G336*|DGKZ_ENST00000395574.3_Nonsense_Mutation_p.G298*|DGKZ_ENST00000421244.2_Nonsense_Mutation_p.G332*|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000456247.2_Nonsense_Mutation_p.G331*|DGKZ_ENST00000527911.1_Nonsense_Mutation_p.G332*|DGKZ_ENST00000343674.6_Nonsense_Mutation_p.G348*|DGKZ_ENST00000528615.1_Nonsense_Mutation_p.G110*	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	520	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.|Mediates interaction with RASGRP1.				blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCTGAGCCAGGGAGGGCCCAA	0.582																																						ENST00000454345.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25						c.(1558-1560)Gga>Tga		diacylglycerol kinase, zeta							78.0	70.0	73.0					11																	46394044		2202	4299	6501	SO:0001587	stop_gained	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46394044G>T	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.1558G>T	11.37:g.46394044G>T	ENSP00000412178:p.Gly520*					DGKZ_ENST00000528615.1_Nonsense_Mutation_p.G110*|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000456247.2_Nonsense_Mutation_p.G331*|DGKZ_ENST00000527911.1_Nonsense_Mutation_p.G332*|DGKZ_ENST00000532868.2_Nonsense_Mutation_p.G336*|DGKZ_ENST00000343674.6_Nonsense_Mutation_p.G348*|DGKZ_ENST00000421244.2_Nonsense_Mutation_p.G332*|DGKZ_ENST00000318201.8_Nonsense_Mutation_p.G309*|DGKZ_ENST00000395574.3_Nonsense_Mutation_p.G298*	p.G520*	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	12	1683	+			520			DAGKc.|Mediates interaction with RASGRP1.		B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Nonsense_Mutation	SNP	ENST00000454345.1	37	c.1558G>T	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	G	37	6.119407	0.97300	.	.	ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	.	.	.	4.68	4.68	0.58851	.	0.168885	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.9709	0.89112	0.0:0.0:1.0:0.0	.	.	.	.	X	348;110;298;297;332;331;332;309;520	.	ENSP00000320340:G309X	G	+	1	0	DGKZ	46350620	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.980000	0.88113	2.319000	0.78375	0.467000	0.42956	GGA		0.582	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		13	71	1	0	4.36969e-10	1	4.90475e-10	13	71				
DDO	8528	broad.mit.edu	37	6	110714266	110714266	+	Silent	SNP	C	C	A	rs148812598		TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr6:110714266C>A	ENST00000368924.3	-	5	837	c.822G>T	c.(820-822)ccG>ccT	p.P274P	DDO_ENST00000368923.3_Silent_p.P215P	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	246					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		TTTCTGCATCCGGGGACAGAT	0.522																																						ENST00000368924.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24						c.(820-822)ccG>ccT		D-aspartate oxidase							141.0	148.0	146.0					6																	110714266		2203	4300	6503	SO:0001819	synonymous_variant	8528				aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity	g.chr6:110714266C>A	D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.822G>T	6.37:g.110714266C>A						DDO_ENST00000368925.1_Silent_p.P246P|DDO_ENST00000368923.3_Silent_p.P215P	p.P274P	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)	5	837	-		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)	246					A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Silent	SNP	ENST00000368924.3	37	c.822G>T	CCDS5082.1																																																																																				0.522	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041796.1			32	171	1	0	2.80507e-11	1	3.17012e-11	32	171				
ZNF208	7757	broad.mit.edu	37	19	22154756	22154756	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr19:22154756G>T	ENST00000397126.4	-	4	3228	c.3080C>A	c.(3079-3081)aCa>aAa	p.T1027K	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1027					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTTGTAGGGTGTCTCTCCAGT	0.413																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(3079-3081)aCa>aAa		zinc finger protein 208							99.0	107.0	105.0					19																	22154756		2143	4256	6399	SO:0001583	missense	7757							g.chr19:22154756G>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3080C>A	19.37:g.22154756G>T	ENSP00000380315:p.Thr1027Lys					ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.T1027K	NM_007153.3	NP_009084.2					4	3228	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.3080C>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.929239	0.00054	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.12361	2.69	2.26	1.16	0.20824	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04907	0.0132	.	.	.	0.20764	N	0.999853	B	0.06786	0.001	B	0.04013	0.001	T	0.43750	-0.9372	8	0.02654	T	1	.	7.162	0.25669	0.0:0.0:0.2315:0.7685	.	899	O43345	ZN208_HUMAN	K	1027;899	ENSP00000380315:T1027K	ENSP00000380315:T1027K	T	-	2	0	ZNF208	21946596	0.010000	0.17322	0.082000	0.20525	0.039000	0.13416	-0.744000	0.04839	-0.139000	0.11414	-1.082000	0.02213	ACA		0.413	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		7	81	1	0	0.000274275	1	0.000286427	7	81				
PPFIA4	8497	broad.mit.edu	37	1	203028956	203028956	+	Missense_Mutation	SNP	C	C	T	rs560309517		TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:203028956C>T	ENST00000447715.2	+	26	2935	c.2494C>T	c.(2494-2496)Cct>Tct	p.P832S	PPFIA4_ENST00000367240.2_Missense_Mutation_p.P833S|PPFIA4_ENST00000599966.1_Missense_Mutation_p.P348S|PPFIA4_ENST00000272198.6_Missense_Mutation_p.P348S|PPFIA4_ENST00000295706.4_Missense_Mutation_p.P348S|PPFIA4_ENST00000414050.2_Missense_Mutation_p.P561S			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	832	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GTGGGATGGTCCTACTGTGGT	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18887	0.0		0.0	False		,,,				2504	0.0					ENST00000367240.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(2497-2499)Cct>Tct		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4							63.0	68.0	66.0					1																	203028956		1993	4166	6159	SO:0001583	missense	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203028956C>T	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.2494C>T	1.37:g.203028956C>T	ENSP00000402576:p.Pro832Ser					PPFIA4_ENST00000414050.2_Missense_Mutation_p.P561S|PPFIA4_ENST00000447715.2_Missense_Mutation_p.P832S|PPFIA4_ENST00000599966.1_Missense_Mutation_p.P348S|PPFIA4_ENST00000272198.6_Missense_Mutation_p.P348S|PPFIA4_ENST00000295706.4_Missense_Mutation_p.P348S	p.P833S			O75335	LIPA4_HUMAN			20	3024	+			348					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37	c.2497C>T		.	.	.	.	.	.	.	.	.	.	C	32	5.162337	0.94727	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39	5.1	5.1	0.69264	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.45126	D	0.000387	T	0.34745	0.0908	L	0.38531	1.155	0.80722	D	1	D;D;P;D;D	0.89917	0.979;1.0;0.917;1.0;1.0	D;D;P;D;D	0.91635	0.91;0.994;0.567;0.998;0.999	T	0.06356	-1.0831	10	0.87932	D	0	-20.4308	18.7118	0.91659	0.0:1.0:0.0:0.0	.	561;832;43;348;348	B4DIS5;B1N949;B3KN22;O75335-2;O75335	.;.;.;.;LIPA4_HUMAN	S	833;832;348;561;348	ENSP00000356209:P833S;ENSP00000402576:P832S;ENSP00000295706:P348S;ENSP00000400379:P561S;ENSP00000272198:P348S	ENSP00000272198:P348S	P	+	1	0	PPFIA4	201295579	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.651000	0.83577	2.655000	0.90218	0.462000	0.41574	CCT		0.552	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		7	11	0	0	0	1	0	7	11				
COL26A1	136227	broad.mit.edu	37	7	101188672	101188672	+	RNA	SNP	G	G	A	rs373938643		TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr7:101188672G>A	ENST00000397927.3	+	0	970				COL26A1_ENST00000313669.7_RNA|COL26A1_ENST00000528707.1_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)											GGGGCGCCCCGGCCCCCCAGG	0.697																																						ENST00000313669.7																			0													collagen, type XXVI, alpha 1		G	SER/GLY	0,3644		0,0,1822	15.0	19.0	18.0		751	5.0	0.9	7		18	1,8127		0,1,4063	no	missense	EMID2	NM_133457.2	56	0,1,5885	AA,AG,GG		0.0123,0.0,0.0085	probably-damaging	251/440	101188672	1,11771	1822	4064	5886			136227							g.chr7:101188672G>A	AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"""Collagens"", ""EMI domain containing"""	18038	protein-coding gene	gene with protein product	"""Emu2 gene"""	608927	"""EMI domain containing 2"""	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101188672G>A						COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000397927.3_RNA		NM_133457.2	NP_597714.2					0	949	+								Q32M90	RNA	SNP	ENST00000397927.3	37			.	.	.	.	.	.	.	.	.	.	G	24.8	4.575063	0.86542	0.0	1.23E-4	ENSG00000160963	ENST00000313669	D	0.99607	-6.27	5.0	5.0	0.66597	.	0.000000	0.52532	D	0.000071	D	0.99778	0.9908	H	0.97918	4.105	0.25973	N	0.982473	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97442	1.0022	10	0.72032	D	0.01	.	13.812	0.63268	0.0:0.0:1.0:0.0	.	253;253	Q96A83;C9JPW4	EMID2_HUMAN;.	S	253	ENSP00000318234:G253S	ENSP00000318234:G253S	G	+	1	0	EMID2	100975392	0.996000	0.38824	0.910000	0.35882	0.936000	0.57629	3.538000	0.53597	2.335000	0.79485	0.555000	0.69702	GGC		0.697	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000315898.2	NM_133457		6	23	0	0	0	1	0	6	23				
RASA4B	100271927	broad.mit.edu	37	7	102136604	102136604	+	Missense_Mutation	SNP	C	C	T	rs746316	byFrequency	TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr7:102136604C>T	ENST00000465829.1	-	11	1124	c.1054G>A	c.(1054-1056)Gtg>Atg	p.V352M	RASA4B_ENST00000541662.1_Missense_Mutation_p.V352M|RASA4B_ENST00000306682.6_Missense_Mutation_p.V280M|RP11-514P8.8_ENST00000481893.1_RNA			C9J798	RAS4B_HUMAN	RAS p21 protein activator 4B	352	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)	p.V352M(1)		skin(1)	1						AAAGACTCCACGGACTTTGAG	0.542																																						ENST00000481893.1																			1	Substitution - Missense(1)	p.V352M(1)	kidney(1)	skin(1)	1						c.(838-840)Gtg>Atg		RAS p21 protein activator 4B																																				SO:0001583	missense	100271927							g.chr7:102136604C>T		CCDS59506.1	7q22.1	2013-01-10			ENSG00000170667	ENSG00000170667		"""Pleckstrin homology (PH) domain containing"""	35202	protein-coding gene	gene with protein product							Standard	NM_001277335		Approved		uc003uzu.2	C9J798	OTTHUMG00000022944	ENST00000465829.1:c.1054G>A	7.37:g.102136604C>T	ENSP00000417895:p.Val352Met					RASA4B_ENST00000306682.6_Missense_Mutation_p.V280M|RASA4B_ENST00000465829.1_Missense_Mutation_p.V352M|RASA4B_ENST00000541662.1_Missense_Mutation_p.V352M	p.V280M							16	1962	-									Missense_Mutation	SNP	ENST00000465829.1	37	c.838G>A		.	.	.	.	.	.	.	.	.	.	.	0.013	-1.627428	0.00813	.	.	ENSG00000170667	ENST00000541662;ENST00000465829;ENST00000481893;ENST00000306682	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	4.05	4.05	0.47172	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	N	0.000000	T	0.39989	0.1099	N	0.00538	-1.39	0.20873	N	0.999832	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.09377	0.004;0.003;0.0	T	0.42292	-0.9460	10	0.02654	T	1	.	8.9242	0.35630	0.0:0.0917:0.0:0.9083	rs746316;rs11547192	280;352;352	F8W6L0;F5GXT2;C9J798	.;.;RAS4B_HUMAN	M	352;352;280;280	ENSP00000440982:V352M;ENSP00000417895:V352M;ENSP00000419967:V280M;ENSP00000303968:V280M	ENSP00000303968:V280M	V	-	1	0	RASA4B	101923609	1.000000	0.71417	1.000000	0.80357	0.082000	0.17680	4.925000	0.63425	0.541000	0.28827	-0.556000	0.04195	GTG		0.542	RASA4B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000059600.6	XM_003118600		4	103	0	0	0	1	0	4	103				
PIGK	10026	broad.mit.edu	37	1	77620301	77620301	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:77620301C>A	ENST00000370812.3	-	9	842	c.819G>T	c.(817-819)caG>caT	p.Q273H	PIGK_ENST00000359130.1_Missense_Mutation_p.Q273H|PIGK_ENST00000370813.5_Missense_Mutation_p.Q197H|PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000445065.1_Missense_Mutation_p.Q179H	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	273					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|GPI-anchor transamidase activity (GO:0003923)|protein disulfide isomerase activity (GO:0003756)			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						TGGGACATACCTGAAACTGaa	0.328																																						ENST00000370812.3																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						c.(817-819)caG>caT		phosphatidylinositol glycan anchor biosynthesis, class K							47.0	46.0	46.0					1																	77620301		2202	4299	6501	SO:0001583	missense	10026				attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding	g.chr1:77620301C>A	AF022913	CCDS674.1	1p31.1	2013-02-26	2006-06-28		ENSG00000142892	ENSG00000142892		"""Phosphatidylinositol glycan anchor biosynthesis"""	8965	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	605087	"""phosphatidylinositol glycan, class K"""			9356492	Standard	NM_005482		Approved	hGPI8, GPI8	uc001dhk.3	Q92643	OTTHUMG00000009686	ENST00000370812.3:c.819G>T	1.37:g.77620301C>A	ENSP00000359848:p.Gln273His					PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000445065.1_Missense_Mutation_p.Q179H|PIGK_ENST00000359130.1_Missense_Mutation_p.Q273H|PIGK_ENST00000370813.5_Missense_Mutation_p.Q197H	p.Q273H	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN			9	842	-			273					B2R7K3|B4E2M3|O14822|Q5TG77	Missense_Mutation	SNP	ENST00000370812.3	37	c.819G>T	CCDS674.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341701	0.61073	.	.	ENSG00000142892	ENST00000370812;ENST00000445065;ENST00000370813;ENST00000359130	T;T;T;T	0.46063	0.9;0.88;0.89;0.91	4.97	3.52	0.40303	.	0.052620	0.85682	D	0.000000	T	0.31827	0.0809	L	0.40543	1.245	0.80722	D	1	P;P;P;P	0.47106	0.89;0.89;0.755;0.727	P;P;P;P	0.56163	0.793;0.793;0.726;0.637	T	0.04281	-1.0963	10	0.27082	T	0.32	-40.9245	10.8681	0.46866	0.0:0.8691:0.0:0.1309	.	197;179;273;273	B4E2M3;B1AK81;A6NEM5;Q92643	.;.;.;GPI8_HUMAN	H	273;179;197;273	ENSP00000359848:Q273H;ENSP00000388854:Q179H;ENSP00000359849:Q197H;ENSP00000352041:Q273H	ENSP00000352041:Q273H	Q	-	3	2	PIGK	77392889	1.000000	0.71417	0.998000	0.56505	0.895000	0.52256	1.623000	0.37008	0.748000	0.32831	0.491000	0.48974	CAG		0.328	PIGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026687.1	NM_005482		4	16	1	0	0.00024832	1	0.000262646	4	16				
DNAH1	25981	broad.mit.edu	37	3	52406960	52406960	+	Silent	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr3:52406960C>T	ENST00000420323.2	+	44	7137	c.6876C>T	c.(6874-6876)ttC>ttT	p.F2292F		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2292	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTATCTTCTTCATCGATGACC	0.627																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(6874-6876)ttC>ttT		dynein, axonemal, heavy chain 1							91.0	95.0	93.0					3																	52406960		2013	4174	6187	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52406960C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.6876C>T	3.37:g.52406960C>T							p.F2292F	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	44	7137	+			2292			AAA 3 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.6876C>T	CCDS46842.1																																																																																				0.627	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		8	76	0	0	0	1	0	8	76				
GDF3	9573	broad.mit.edu	37	12	7842781	7842781	+	Missense_Mutation	SNP	A	A	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr12:7842781A>T	ENST00000329913.3	-	2	835	c.788T>A	c.(787-789)cTc>cAc	p.L263H		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	263					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						ACGGTGGCAGAGGTTCTTACA	0.542																																						ENST00000329913.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(787-789)cTc>cAc		growth differentiation factor 3							81.0	75.0	77.0					12																	7842781		2203	4300	6503	SO:0001583	missense	9573				eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:7842781A>T	AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"""Endogenous ligands"""	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.788T>A	12.37:g.7842781A>T	ENSP00000331745:p.Leu263His						p.L263H	NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN			2	835	-			263					Q8NEJ4	Missense_Mutation	SNP	ENST00000329913.3	37	c.788T>A	CCDS8581.1	.	.	.	.	.	.	.	.	.	.	A	17.81	3.480591	0.63849	.	.	ENSG00000184344	ENST00000329913	D	0.83992	-1.79	4.61	4.61	0.57282	Transforming growth factor-beta, C-terminal (2);	1.874070	0.02033	N	0.048645	D	0.88343	0.6411	L	0.46567	1.45	0.47698	D	0.999493	D	0.67145	0.996	D	0.65443	0.935	T	0.76033	-0.3107	10	0.15499	T	0.54	.	12.2846	0.54786	1.0:0.0:0.0:0.0	.	263	Q9NR23	GDF3_HUMAN	H	263	ENSP00000331745:L263H	ENSP00000331745:L263H	L	-	2	0	GDF3	7734048	0.999000	0.42202	0.990000	0.47175	0.760000	0.43138	3.402000	0.52608	1.854000	0.53819	0.459000	0.35465	CTC		0.542	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1			18	88	0	0	0	1	0	18	88				
NOTCH1	4851	broad.mit.edu	37	9	139396814	139396814	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr9:139396814C>T	ENST00000277541.6	-	28	5369	c.5294G>A	c.(5293-5295)gGc>gAc	p.G1765D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1765					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)		CCAGAGCTGGCCATGCTGCCG	0.667			"""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.(5293-5295)gGc>gAc		notch 1							16.0	21.0	19.0					9																	139396814		2007	4162	6169	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.chr9:139396814C>T	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.5294G>A	9.37:g.139396814C>T	ENSP00000277541:p.Gly1765Asp	HNSCC(8;0.001)					p.G1765D	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	28	5369	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1765					Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.5294G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	33	5.288644	0.95517	.	.	ENSG00000148400	ENST00000277541	D	0.86030	-2.06	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.93844	0.8031	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95304	0.8406	10	0.87932	D	0	.	16.7691	0.85532	0.0:1.0:0.0:0.0	.	1765	P46531	NOTC1_HUMAN	D	1765	ENSP00000277541:G1765D	ENSP00000277541:G1765D	G	-	2	0	NOTCH1	138516635	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.533000	0.81994	2.271000	0.75665	0.561000	0.74099	GGC		0.667	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		6	30	0	0	0	1	0	6	30				
SSPO	23145	broad.mit.edu	37	7	149515760	149515760	+	RNA	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr7:149515760C>T	ENST00000378016.2	+	0	11661							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCCATGGTCCTCCTGGTCCC	0.687																																						ENST00000378016.2																			0													SCO-spondin							20.0	24.0	23.0					7																	149515760		1973	4138	6111			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149515760C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149515760C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	11661	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.687	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	38	0	0	0	1	0	4	38				
NTNG2	84628	broad.mit.edu	37	9	135073814	135073814	+	Silent	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr9:135073814C>T	ENST00000393229.3	+	3	1451	c.675C>T	c.(673-675)ccC>ccT	p.P225P	NTNG2_ENST00000393228.4_Silent_p.P225P|NTNG2_ENST00000360670.3_Silent_p.P225P|NTNG2_ENST00000372179.3_Silent_p.P225P	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	225	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TTGCCGGCCCCGACCTGCGCA	0.662																																						ENST00000393229.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(673-675)ccC>ccT		netrin G2							53.0	51.0	51.0					9																	135073814		2203	4299	6502	SO:0001819	synonymous_variant	84628				axonogenesis	anchored to plasma membrane		g.chr9:135073814C>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.675C>T	9.37:g.135073814C>T						NTNG2_ENST00000372179.3_Silent_p.P225P|NTNG2_ENST00000360670.3_Silent_p.P225P|NTNG2_ENST00000393228.4_Silent_p.P225P	p.P225P	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	3	1451	+			225			Laminin N-terminal.		Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	ENST00000393229.3	37	c.675C>T	CCDS6946.1																																																																																				0.662	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		21	119	0	0	0	1	0	21	119				
C2orf16	84226	broad.mit.edu	37	2	27804461	27804461	+	Silent	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr2:27804461C>T	ENST00000408964.2	+	1	5073	c.5022C>T	c.(5020-5022)tcC>tcT	p.S1674S	ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000416005.2_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000379717.1_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1674	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GCAGTCCCTCCCAGAGGAGCC	0.572																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(5020-5022)tcC>tcT		chromosome 2 open reading frame 16							146.0	149.0	148.0					2																	27804461		1904	4124	6028	SO:0001819	synonymous_variant	84226							g.chr2:27804461C>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5022C>T	2.37:g.27804461C>T							p.S1674S	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	5073	+	Acute lymphoblastic leukemia(172;0.155)		1674			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	c.5022C>T	CCDS42666.1																																																																																				0.572	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		14	264	0	0	0	1	0	14	264				
PCDHA4	56144	broad.mit.edu	37	5	140187569	140187569	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr5:140187569C>T	ENST00000530339.1	+	1	797	c.797C>T	c.(796-798)gCc>gTc	p.A266V	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A266V|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A266V|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	266	Cadherin 3. {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)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACTTAACGCCTCAGATTTA	0.358																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(796-798)gCc>gTc									60.0	64.0	63.0					5																	140187569		2203	4300	6503	SO:0001583	missense	56144							g.chr5:140187569C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.797C>T	5.37:g.140187569C>T	ENSP00000435300:p.Ala266Val					PCDHA4_ENST00000356878.4_Missense_Mutation_p.A266V|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A266V|PCDHA1_ENST00000504120.2_Intron	p.A266V	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	797	+								O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.797C>T	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	c	23.0	4.367992	0.82463	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.59364	0.27;0.27;0.27	4.34	4.34	0.51931	Cadherin (5);Cadherin-like (1);	0.000000	0.40385	U	0.001120	D	0.85022	0.5602	H	0.97852	4.09	0.47698	D	0.999492	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.984;0.999;0.998	D	0.91439	0.5172	10	0.87932	D	0	.	17.2045	0.86914	0.0:1.0:0.0:0.0	.	266;266;266	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	V	266	ENSP00000423470:A266V;ENSP00000349344:A266V;ENSP00000435300:A266V	ENSP00000349344:A266V	A	+	2	0	PCDHA4	140167753	1.000000	0.71417	0.800000	0.32199	0.981000	0.71138	6.036000	0.70948	2.137000	0.66172	0.467000	0.42956	GCC		0.358	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		13	53	0	0	0	1	0	13	53				
CYTH2	9266	broad.mit.edu	37	19	48981550	48981550	+	Missense_Mutation	SNP	A	A	G			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr19:48981550A>G	ENST00000452733.2	+	10	1380	c.904A>G	c.(904-906)Atc>Gtc	p.I302V	CTC-273B12.8_ENST00000599877.1_lincRNA|CYTH2_ENST00000427476.1_Missense_Mutation_p.I303V			Q99418	CYH2_HUMAN	cytohesin 2	303	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|inositol 1,4,5 trisphosphate binding (GO:0070679)|lipid binding (GO:0008289)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GCCCCGAGGAATCATCCCCCT	0.622																																						ENST00000427476.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(907-909)Atc>Gtc		cytohesin 2							69.0	70.0	70.0					19																	48981550		2203	4300	6503	SO:0001583	missense	9266				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr19:48981550A>G	X99753	CCDS12722.1	19q13.32	2014-05-02	2008-08-14	2008-08-14	ENSG00000105443	ENSG00000105443		"""Pleckstrin homology (PH) domain containing"""	9502	protein-coding gene	gene with protein product		602488	"""pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2)"", ""pleckstrin homology, Sec7 and coiled-coil domains 2"""	PSCD2L, PSCD2		8706128, 8945478, 20525696	Standard	NM_004228		Approved	CTS18.1, Sec7p-L, ARNO, Sec7p-like, cytohesin-2	uc002pjj.4	Q99418	OTTHUMG00000150245	ENST00000452733.2:c.904A>G	19.37:g.48981550A>G	ENSP00000408236:p.Ile302Val					CYTH2_ENST00000452733.2_Missense_Mutation_p.I302V	p.I303V	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN			10	1207	+			303			PH.		A8K8P0|Q8IXY9|Q92958	Missense_Mutation	SNP	ENST00000452733.2	37	c.907A>G	CCDS12722.1	.	.	.	.	.	.	.	.	.	.	A	17.62	3.433710	0.62955	.	.	ENSG00000105443	ENST00000452733;ENST00000427476	T;T	0.75154	-0.91;-0.91	4.62	4.62	0.57501	.	0.055319	0.64402	D	0.000001	T	0.64832	0.2634	L	0.31926	0.97	0.58432	D	0.999999	B	0.28512	0.214	B	0.29598	0.104	T	0.67515	-0.5651	10	0.87932	D	0	.	12.3048	0.54895	1.0:0.0:0.0:0.0	.	302	Q99418-2	.	V	302;303	ENSP00000408236:I302V;ENSP00000391648:I303V	ENSP00000391648:I303V	I	+	1	0	CYTH2	53673362	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.305000	0.78891	2.064000	0.61679	0.533000	0.62120	ATC		0.622	CYTH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317060.1	NM_004228		15	87	0	0	0	1	0	15	87				
ZNF835	90485	broad.mit.edu	37	19	57175629	57175629	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr19:57175629G>A	ENST00000537055.2	-	2	1169	c.938C>T	c.(937-939)gCg>gTg	p.A313V		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G334fs*26(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GCTGAAGAGCGCGCCGCAGTC	0.706																																						ENST00000537055.2																			1	Deletion - Frameshift(1)	p.G334fs*26(1)	pancreas(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(937-939)gCg>gTg		zinc finger protein 835							17.0	17.0	17.0					19																	57175629		2199	4295	6494	SO:0001583	missense	90485							g.chr19:57175629G>A	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.938C>T	19.37:g.57175629G>A	ENSP00000444747:p.Ala313Val						p.A313V	NM_001005850.2	NP_001005850.2					2	1169	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.938C>T	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589719	0.46214	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.18657	2.2	2.12	-3.74	0.04385	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18676	0.0448	L	0.39898	1.24	0.09310	N	1	D	0.57257	0.979	P	0.51055	0.657	T	0.10132	-1.0643	9	0.87932	D	0	.	1.743	0.02956	0.125:0.1638:0.2163:0.4949	.	335	Q9Y2P0	ZN835_HUMAN	V	335;313	ENSP00000444747:A313V	ENSP00000341756:A335V	A	-	2	0	ZNF835	61867441	0.000000	0.05858	0.000000	0.03702	0.389000	0.30415	-1.347000	0.02632	-0.802000	0.04421	-0.258000	0.10820	GCG		0.706	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		4	24	0	0	0	1	0	4	24				
C2orf16	84226	broad.mit.edu	37	2	27804504	27804504	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr2:27804504C>T	ENST00000408964.2	+	1	5116	c.5065C>T	c.(5065-5067)Ccc>Tcc	p.P1689S	ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000416005.2_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000379717.1_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1689	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCATTGCAGTCCCTCTGAGAG	0.577																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(5065-5067)Ccc>Tcc		chromosome 2 open reading frame 16							154.0	156.0	155.0					2																	27804504		1917	4131	6048	SO:0001583	missense	84226							g.chr2:27804504C>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5065C>T	2.37:g.27804504C>T	ENSP00000386190:p.Pro1689Ser						p.P1689S	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	5116	+	Acute lymphoblastic leukemia(172;0.155)		1689			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.5065C>T	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.504625	0.26949	.	.	ENSG00000221843	ENST00000408964	T	0.05649	3.41	3.26	-3.4	0.04853	.	.	.	.	.	T	0.09818	0.0241	L	0.34521	1.04	0.09310	N	1	D	0.76494	0.999	D	0.80764	0.994	T	0.13953	-1.0490	9	0.08837	T	0.75	.	8.0578	0.30614	0.5595:0.3026:0.1379:0.0	.	1689	Q68DN1	CB016_HUMAN	S	1689	ENSP00000386190:P1689S	ENSP00000386190:P1689S	P	+	1	0	C2orf16	27658008	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-2.412000	0.01039	-0.747000	0.04759	0.462000	0.41574	CCC		0.577	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		6	246	0	0	0	1	0	6	246				
PIK3AP1	118788	broad.mit.edu	37	10	98469699	98469699	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr10:98469699C>G	ENST00000339364.5	-	2	174	c.55G>C	c.(55-57)Gat>Cat	p.D19H		NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	19	Necessary and sufficent to mediate inhibition of NF-kappa-B downstream of activated TLRs; may mediate interaction with MYD88 and TIRAP. {ECO:0000250}.				negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TCCTCGGCATCCGGGCTGTAG	0.612																																						ENST00000339364.5																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52						c.(55-57)Gat>Cat		phosphoinositide-3-kinase adaptor protein 1							58.0	50.0	53.0					10																	98469699		2197	4292	6489	SO:0001583	missense	118788					cytoplasm|plasma membrane		g.chr10:98469699C>G	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.55G>C	10.37:g.98469699C>G	ENSP00000339826:p.Asp19His						p.D19H	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	2	174	-		Colorectal(252;0.0442)	19					Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	c.55G>C	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117236	0.77323	.	.	ENSG00000155629	ENST00000339364	T	0.25250	1.81	5.15	5.15	0.70609	.	0.059057	0.64402	D	0.000003	T	0.48642	0.1511	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.35699	-0.9778	10	0.38643	T	0.18	-18.6148	16.1401	0.81517	0.0:1.0:0.0:0.0	.	19	Q6ZUJ8	BCAP_HUMAN	H	19	ENSP00000339826:D19H	ENSP00000339826:D19H	D	-	1	0	PIK3AP1	98459689	1.000000	0.71417	0.983000	0.44433	0.896000	0.52359	5.701000	0.68325	2.559000	0.86315	0.655000	0.94253	GAT		0.612	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		3	70	0	0	0	1	0	3	70				
BAZ1A	11177	broad.mit.edu	37	14	35253084	35253084	+	Silent	SNP	T	T	C			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr14:35253084T>C	ENST00000382422.2	-	14	2208	c.1881A>G	c.(1879-1881)ctA>ctG	p.L627L	BAZ1A_ENST00000358716.4_Silent_p.L595L|BAZ1A_ENST00000360310.1_Silent_p.L627L			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	627					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TAGTTGAAACTAGGGTCAGTA	0.368																																						ENST00000360310.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1879-1881)ctA>ctG		bromodomain adjacent to zinc finger domain, 1A							104.0	101.0	102.0					14																	35253084		2203	4300	6503	SO:0001819	synonymous_variant	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35253084T>C	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.1881A>G	14.37:g.35253084T>C						BAZ1A_ENST00000382422.2_Silent_p.L627L|BAZ1A_ENST00000358716.4_Silent_p.L595L	p.L627L	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	15	2448	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		627					Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Silent	SNP	ENST00000382422.2	37	c.1881A>G	CCDS9651.1																																																																																				0.368	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			10	58	0	0	0	1	0	10	58				
RPIA	22934	broad.mit.edu	37	2	88991322	88991322	+	Missense_Mutation	SNP	C	C	T	rs201777997	byFrequency	TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr2:88991322C>T	ENST00000283646.4	+	1	161	c.106C>T	c.(106-108)Ctc>Ttc	p.L36F		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	36					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|ribose phosphate metabolic process (GO:0019693)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	monosaccharide binding (GO:0048029)|ribose-5-phosphate isomerase activity (GO:0004751)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				CAGCTGGGACCTCCCGGGTTC	0.746																																						ENST00000283646.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						c.(106-108)Ctc>Ttc		ribose 5-phosphate isomerase A							6.0	10.0	9.0					2																	88991322		1788	3974	5762	SO:0001583	missense	22934				pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity	g.chr2:88991322C>T	L35035	CCDS2004.2	2p11.2	2008-07-31	2008-07-31		ENSG00000153574	ENSG00000153574	5.3.1.6		10297	protein-coding gene	gene with protein product	"""ribose 5-phosphate epimerase"""	180430				7758956	Standard	NM_144563		Approved		uc002ste.3	P49247	OTTHUMG00000130333	ENST00000283646.4:c.106C>T	2.37:g.88991322C>T	ENSP00000283646:p.Leu36Phe						p.L36F	NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN			1	161	+		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)	36					Q541P9|Q96BJ6	Missense_Mutation	SNP	ENST00000283646.4	37	c.106C>T	CCDS2004.2	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265977	0.40095	.	.	ENSG00000153574	ENST00000283646	T	0.78707	-1.2	4.75	1.89	0.25635	.	0.870994	0.08744	U	0.900129	T	0.56108	0.1963	N	0.08118	0	0.23361	N	0.997838	B	0.19445	0.036	B	0.22386	0.039	T	0.48293	-0.9048	10	0.54805	T	0.06	-0.0403	2.2789	0.04109	0.1346:0.35:0.3801:0.1353	.	36	P49247	RPIA_HUMAN	F	36	ENSP00000283646:L36F	ENSP00000283646:L36F	L	+	1	0	RPIA	88772437	0.531000	0.26338	0.667000	0.29798	0.988000	0.76386	0.536000	0.23129	0.295000	0.22570	0.484000	0.47621	CTC		0.746	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252683.2			7	11	0	0	0	1	0	7	11				
FSIP1	161835	broad.mit.edu	37	15	39909959	39909959	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr15:39909959C>T	ENST00000350221.3	-	11	1885	c.1676G>A	c.(1675-1677)aGt>aAt	p.S559N		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	559										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		CTCTGGAGAACTGAGTTTCAG	0.393																																						ENST00000350221.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23						c.(1675-1677)aGt>aAt		fibrous sheath interacting protein 1							96.0	91.0	93.0					15																	39909959		2200	4297	6497	SO:0001583	missense	161835							g.chr15:39909959C>T	BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.1676G>A	15.37:g.39909959C>T	ENSP00000280236:p.Ser559Asn						p.S559N	NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)	11	1885	-		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)	559					Q6X2C8|Q86Y89	Missense_Mutation	SNP	ENST00000350221.3	37	c.1676G>A	CCDS10050.1	.	.	.	.	.	.	.	.	.	.	C	0.100	-1.154074	0.01700	.	.	ENSG00000150667	ENST00000350221	T	0.13778	2.56	4.84	1.68	0.24146	.	0.277658	0.29451	N	0.012118	T	0.07413	0.0187	N	0.17082	0.46	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.38628	-0.9652	9	.	.	.	-1.9931	9.1248	0.36807	0.1215:0.7319:0.0:0.1465	.	559	Q8NA03	FSIP1_HUMAN	N	559	ENSP00000280236:S559N	.	S	-	2	0	FSIP1	37697251	0.092000	0.21681	0.011000	0.14972	0.020000	0.10135	0.245000	0.18142	0.338000	0.23692	-1.094000	0.02160	AGT		0.393	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2	NM_152597		10	60	0	0	0	1	0	10	60				
RALGPS2	55103	broad.mit.edu	37	1	178854232	178854232	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:178854232C>T	ENST00000367635.3	+	12	1264	c.926C>T	c.(925-927)cCa>cTa	p.P309L	RALGPS2_ENST00000367634.2_Missense_Mutation_p.P309L|RALGPS2_ENST00000477383.1_3'UTR	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	309					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GGAGCGTCTCCACAGAGTGGA	0.433																																						ENST00000367635.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(925-927)cCa>cTa		Ral GEF with PH domain and SH3 binding motif 2							65.0	67.0	67.0					1																	178854232		2203	4300	6503	SO:0001583	missense	55103				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:178854232C>T	AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.926C>T	1.37:g.178854232C>T	ENSP00000356607:p.Pro309Leu					RALGPS2_ENST00000367634.2_Missense_Mutation_p.P309L|RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000324778.4_Missense_Mutation_p.P274L	p.P309L	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN			12	1264	+			309					B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	ENST00000367635.3	37	c.926C>T	CCDS1325.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.841856	0.32513	.	.	ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778	T;T;T	0.43688	0.94;0.94;0.94	5.62	5.62	0.85841	.	0.606331	0.17374	N	0.176563	T	0.38585	0.1046	L	0.33485	1.01	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.09377	0.002;0.004	T	0.13308	-1.0514	10	0.59425	D	0.04	.	19.2628	0.93974	0.0:1.0:0.0:0.0	.	309;309	B7Z7B1;Q86X27	.;RGPS2_HUMAN	L	309;309;274	ENSP00000356607:P309L;ENSP00000356606:P309L;ENSP00000313613:P274L	ENSP00000313613:P274L	P	+	2	0	RALGPS2	177120855	1.000000	0.71417	0.701000	0.30321	0.220000	0.24768	7.128000	0.77217	2.659000	0.90383	0.585000	0.79938	CCA		0.433	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663		8	51	0	0	0	1	0	8	51				
SPTBN1	6711	broad.mit.edu	37	2	54858010	54858010	+	Silent	SNP	A	A	G			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr2:54858010A>G	ENST00000356805.4	+	16	3107	c.2826A>G	c.(2824-2826)gaA>gaG	p.E942E	SPTBN1_ENST00000333896.5_Silent_p.E929E	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	942					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGTTCAGAGAACTGGTTGACA	0.517																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(2785-2787)gaA>gaG		spectrin, beta, non-erythrocytic 1							38.0	33.0	35.0					2																	54858010		2203	4300	6503	SO:0001819	synonymous_variant	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54858010A>G		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.2826A>G	2.37:g.54858010A>G						SPTBN1_ENST00000356805.4_Silent_p.E942E	p.E929E	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		15	3172	+			942					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	c.2787A>G	CCDS33198.1																																																																																				0.517	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			5	19	0	0	0	1	0	5	19				
SERPINA1	5265	broad.mit.edu	37	14	94849510	94849510	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr14:94849510G>A	ENST00000448921.1	-	4	637	c.65C>T	c.(64-66)tCc>tTc	p.S22F	SERPINA1_ENST00000355814.4_Missense_Mutation_p.S22F|SERPINA1_ENST00000393087.4_Missense_Mutation_p.S22F|SERPINA1_ENST00000440909.1_Missense_Mutation_p.S22F|SERPINA1_ENST00000449399.3_Missense_Mutation_p.S22F|SERPINA1_ENST00000404814.4_Missense_Mutation_p.S22F|SERPINA1_ENST00000393088.4_Missense_Mutation_p.S22F|SERPINA1_ENST00000555289.1_5'Flank|SERPINA1_ENST00000402629.1_Missense_Mutation_p.S22F|SERPINA1_ENST00000437397.1_Missense_Mutation_p.S22F	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	22					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CTCAGCCAGGGAGACAGGGAC	0.612																																						ENST00000448921.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24						c.(64-66)tCc>tTc		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	Alpha-1-proteinase inhibitor(DB00058)						100.0	90.0	93.0					14																	94849510		2203	4300	6503	SO:0001583	missense	5265				acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	g.chr14:94849510G>A	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.65C>T	14.37:g.94849510G>A	ENSP00000416066:p.Ser22Phe					SERPINA1_ENST00000393088.4_Missense_Mutation_p.S22F|SERPINA1_ENST00000437397.1_Missense_Mutation_p.S22F|SERPINA1_ENST00000449399.3_Missense_Mutation_p.S22F|SERPINA1_ENST00000355814.4_Missense_Mutation_p.S22F|SERPINA1_ENST00000440909.1_Missense_Mutation_p.S22F|SERPINA1_ENST00000393087.4_Missense_Mutation_p.S22F|SERPINA1_ENST00000402629.1_Missense_Mutation_p.S22F|SERPINA1_ENST00000404814.4_Missense_Mutation_p.S22F	p.S22F	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	4	637	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	22					A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Missense_Mutation	SNP	ENST00000448921.1	37	c.65C>T	CCDS9925.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.551085	0.00918	.	.	ENSG00000197249	ENST00000440909;ENST00000448921;ENST00000437397;ENST00000355814;ENST00000393087;ENST00000393088;ENST00000404814;ENST00000449399;ENST00000402629;ENST00000556091;ENST00000557492;ENST00000556955;ENST00000553327;ENST00000557118	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.88354	-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-1.69;-1.69;-1.69;-1.69;-2.37	5.67	-11.3	0.00108	Serpin domain (1);	2.089500	0.02005	N	0.046599	T	0.72203	0.3431	N	0.25286	0.73	0.09310	N	1	B;B	0.19445	0.036;0.021	B;B	0.20384	0.029;0.019	T	0.64153	-0.6474	10	0.09843	T	0.71	.	0.9099	0.01292	0.361:0.2452:0.2167:0.177	.	22;22	P01009-2;P01009	.;A1AT_HUMAN	F	22	ENSP00000390299:S22F;ENSP00000416066:S22F;ENSP00000408474:S22F;ENSP00000348068:S22F;ENSP00000376802:S22F;ENSP00000376803:S22F;ENSP00000385960:S22F;ENSP00000416354:S22F;ENSP00000386094:S22F;ENSP00000452169:S22F;ENSP00000452452:S22F;ENSP00000451098:S22F;ENSP00000452480:S22F;ENSP00000451826:S22F	ENSP00000348068:S22F	S	-	2	0	SERPINA1	93919263	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.257000	0.08745	-2.022000	0.00938	-1.080000	0.02220	TCC		0.612	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		7	75	0	0	0	1	0	7	75				
ZC3HAV1L	92092	broad.mit.edu	37	7	138713609	138713609	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr7:138713609C>A	ENST00000275766.1	-	3	610	c.599G>T	c.(598-600)gGa>gTa	p.G200V		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	200										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						TTTGCATTCTCCTTTCACAAA	0.448																																						ENST00000275766.1																			0				NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						c.(598-600)gGa>gTa		zinc finger CCCH-type, antiviral 1-like							110.0	101.0	104.0					7																	138713609		2203	4300	6503	SO:0001583	missense	92092							g.chr7:138713609C>A	BC008842	CCDS5850.1	7q34	2006-07-03	2006-07-03	2006-07-03	ENSG00000146858	ENSG00000146858			22423	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 39"""	C7orf39			Standard	NM_080660		Approved	MGC14289	uc003vum.1	Q96H79	OTTHUMG00000157229	ENST00000275766.1:c.599G>T	7.37:g.138713609C>A	ENSP00000275766:p.Gly200Val						p.G200V	NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN			3	610	-			200					Q8WUD9	Missense_Mutation	SNP	ENST00000275766.1	37	c.599G>T	CCDS5850.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259330	0.80246	.	.	ENSG00000146858	ENST00000275766	T	0.46819	0.86	5.62	5.62	0.85841	.	0.000000	0.49916	D	0.000138	T	0.70727	0.3257	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73219	-0.4052	10	0.87932	D	0	.	17.5304	0.87813	0.0:1.0:0.0:0.0	.	200	Q96H79	ZCCHL_HUMAN	V	200	ENSP00000275766:G200V	ENSP00000275766:G200V	G	-	2	0	ZC3HAV1L	138364149	0.704000	0.27836	0.650000	0.29550	0.961000	0.63080	4.652000	0.61454	2.816000	0.96949	0.650000	0.86243	GGA		0.448	ZC3HAV1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348090.1	NM_080660		9	31	1	0	0.000274275	1	0.000286427	9	31				
GBF1	8729	broad.mit.edu	37	10	104135126	104135126	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr10:104135126C>T	ENST00000369983.3	+	30	3928	c.3668C>T	c.(3667-3669)tCc>tTc	p.S1223F		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1223					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GTGCTGCTCTCCCTGCGCATT	0.577																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(3667-3669)tCc>tTc		golgi brefeldin A resistant guanine nucleotide exchange factor 1							89.0	81.0	83.0					10																	104135126		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104135126C>T	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.3668C>T	10.37:g.104135126C>T	ENSP00000359000:p.Ser1223Phe						p.S1223F	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	30	3928	+		Colorectal(252;0.0236)	1223					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.3668C>T	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.950649	0.92660	.	.	ENSG00000107862	ENST00000369983	T	0.12569	2.67	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.40473	0.1118	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.995	D;D;D	0.85130	0.997;0.982;0.986	T	0.16689	-1.0394	10	0.59425	D	0.04	-14.4397	18.9316	0.92568	0.0:1.0:0.0:0.0	.	1223;1223;1223	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	F	1223	ENSP00000359000:S1223F	ENSP00000359000:S1223F	S	+	2	0	GBF1	104125116	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.651000	0.83577	2.691000	0.91804	0.655000	0.94253	TCC		0.577	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			11	67	0	0	0	1	0	11	67				
CDC14A	8556	broad.mit.edu	37	1	100818542	100818542	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr1:100818542C>T	ENST00000336454.3	+	1	387	c.32C>T	c.(31-33)gCt>gTt	p.A11V	CDC14A_ENST00000370124.3_Missense_Mutation_p.A11V|CDC14A_ENST00000542213.1_Intron|CDC14A_ENST00000361544.6_Missense_Mutation_p.A11V|CDC14A_ENST00000544534.1_Missense_Mutation_p.A11V|CDC14A_ENST00000370125.2_Missense_Mutation_p.A11V	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	11	A.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		CTAATCGGGGCTTGTGAGTTC	0.622																																						ENST00000370125.2																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31						c.(31-33)gCt>gTt		cell division cycle 14A							92.0	84.0	87.0					1																	100818542		2203	4300	6503	SO:0001583	missense	8556				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr1:100818542C>T	AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.32C>T	1.37:g.100818542C>T	ENSP00000336739:p.Ala11Val					CDC14A_ENST00000542213.1_Intron|CDC14A_ENST00000370124.3_Missense_Mutation_p.A11V|CDC14A_ENST00000336454.3_Missense_Mutation_p.A11V|CDC14A_ENST00000361544.6_Missense_Mutation_p.A11V|CDC14A_ENST00000544534.1_Missense_Mutation_p.A11V	p.A11V			Q9UNH5	CC14A_HUMAN		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)	1	520	+		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)	11			A.		A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Missense_Mutation	SNP	ENST00000336454.3	37	c.32C>T	CCDS769.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528045	0.44969	.	.	ENSG00000079335	ENST00000370125;ENST00000361544;ENST00000370124;ENST00000336454;ENST00000544534	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	3.57	3.57	0.40892	.	0.376195	0.27176	N	0.020571	T	0.22666	0.0547	L	0.45470	1.425	0.80722	D	1	B;B;B;B;B	0.33212	0.264;0.065;0.402;0.383;0.038	B;B;B;B;B	0.36186	0.109;0.044;0.109;0.219;0.02	T	0.06770	-1.0808	10	0.34782	T	0.22	-2.9544	10.8655	0.46853	0.0:1.0:0.0:0.0	.	11;11;11;11;11	A6MA65;Q9UNH5-3;Q9UNH5;Q9UNH5-2;Q52LH9	.;.;CC14A_HUMAN;.;.	V	11	ENSP00000359143:A11V;ENSP00000354916:A11V;ENSP00000359142:A11V;ENSP00000336739:A11V;ENSP00000442543:A11V	ENSP00000336739:A11V	A	+	2	0	CDC14A	100591130	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.996000	0.57009	1.979000	0.57680	0.462000	0.41574	GCT		0.622	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312		5	52	0	0	0	1	0	5	52				
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000442996.1																			0																																																			440926							g.chr2:175585079delA																													2.37:g.175585079delA			OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924									0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.368	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			4	4						4	4	---	---	---	---
DMXL1	1657	broad.mit.edu	37	5	118525523	118525524	+	Frame_Shift_Ins	INS	-	-	G	rs17144964|rs376776822	byFrequency	TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr5:118525523_118525524insG	ENST00000311085.8	+	29	7336_7337	c.7256_7257insG	c.(7255-7260)gcggttfs	p.V2420fs	DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.V2420fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2420										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GAGTCACTGGCGGTTAAAGAAA	0.421																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(7255-7257)ggtfs		Dmx-like 1																																				SO:0001589	frameshift_variant	1657							g.chr5:118525523_118525524insG	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.7258dupG	5.37:g.118525525_118525525dupG	ENSP00000309690:p.Val2420fs					DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.G2419fs	p.G2419fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	29	7336_7337	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2419						Frame_Shift_Ins	INS	ENST00000311085.8	37	c.7256_7257insG	CCDS4125.1																																																																																				0.421	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		7	112						7	112	---	---	---	---
SVEP1	79987	broad.mit.edu	37	9	113168593	113168594	+	Frame_Shift_Ins	INS	-	-	T			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr9:113168593_113168594insT	ENST00000401783.2	-	38	9622_9623	c.9286_9287insA	c.(9286-9288)atafs	p.I3096fs	SVEP1_ENST00000374469.1_Frame_Shift_Ins_p.I3073fs|SVEP1_ENST00000297826.5_Frame_Shift_Ins_p.I1022fs	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3096	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACTGCCTTGTATGACATATCCA	0.485																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(9286-9288)acafs		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1																																				SO:0001589	frameshift_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113168593_113168594insT	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.9287dupA	9.37:g.113168594_113168594dupT	ENSP00000384917:p.Ile3096fs					SVEP1_ENST00000297826.5_Frame_Shift_Ins_p.T1022fs|SVEP1_ENST00000374469.1_Frame_Shift_Ins_p.T3073fs	p.T3096fs	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			38	9622_9623	-			3096			Sushi 28.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Frame_Shift_Ins	INS	ENST00000401783.2	37	c.9286_9287insA	CCDS48004.1																																																																																				0.485	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				29	218						29	218	---	---	---	---
PHRF1	57661	broad.mit.edu	37	11	607585	607590	+	In_Frame_Del	DEL	GCATCA	GCATCA	-	rs369016795		TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr11:607585_607590delGCATCA	ENST00000264555.5	+	14	2257_2262	c.2129_2134delGCATCA	c.(2128-2136)tgcatcagc>tgc	p.IS711del	PHRF1_ENST00000416188.2_In_Frame_Del_p.IS710del|PHRF1_ENST00000413872.2_In_Frame_Del_p.IS709del|PHRF1_ENST00000533464.1_In_Frame_Del_p.IS707del	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	711					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CCCAGTGCCTGCATCAGCCGACTGAC	0.684																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(2128-2136)tgc>t		PHD and ring finger domains 1																																				SO:0001651	inframe_deletion	57661						RNA polymerase binding|zinc ion binding	g.chr11:607585_607590delGCATCA	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.2129_2134delGCATCA	11.37:g.607585_607590delGCATCA	ENSP00000264555:p.Ile711_Ser712del					PHRF1_ENST00000413872.2_In_Frame_Del_p.CIS708del|PHRF1_ENST00000533464.1_In_Frame_Del_p.CIS706del|PHRF1_ENST00000416188.2_In_Frame_Del_p.CIS709del	p.CIS710del	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			14	2257_2262	+			710					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	In_Frame_Del	DEL	ENST00000264555.5	37	c.2129_2134delGCATCA																																																																																					0.684	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		16	105						16	105	---	---	---	---
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	RNA	INS	-	-	T	rs200787919|rs68192524|rs5003690		TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr11:102738795_102738796insT	ENST00000532855.1	-	0	725_726							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.N211fs*20(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	AGGAACAAGTGGTGCCTAAGAA	0.416																																						ENST00000532855.1																			2	Insertion - Frameshift(2)	p.N211fs*20(2)	upper_aerodigestive_tract(1)|prostate(1)	autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)			3692,6		1844,4,1						-0.2	0.9		dbSNP_113	54	7905,5		3951,3,1	no	frameshift	MMP12	NM_002426.4		5795,7,2	A1A1,A1R,RR		0.0632,0.1622,0.0948				11597,11						4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102738795_102738796insT	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102738795_102738796insT										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	725_726	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	INS	ENST00000532855.1	37																																																																																						0.416	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		7	5						7	5	---	---	---	---
RP11-377D9.3	0	broad.mit.edu	37	12	13174142	13174144	+	lincRNA	DEL	AAC	AAC	-			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr12:13174142_13174144delAAC	ENST00000543321.1	+	0	1025																											ctgtctcaaaaacaacaacaaca	0.552																																						ENST00000543321.1																			0																																																			0							g.chr12:13174142_13174144delAAC																													12.37:g.13174151_13174153delAAC														0	1025	+									RNA	DEL	ENST00000543321.1	37																																																																																						0.552	RP11-377D9.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000401005.1			5	9						5	9	---	---	---	---
SLC26A10	65012	broad.mit.edu	37	12	58014154	58014154	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr12:58014154delC	ENST00000320442.4	+	1	462	c.151delC	c.(151-153)cccfs	p.P52fs	AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|SLC26A10_ENST00000379218.2_Frame_Shift_Del_p.P52fs|AC025165.8_ENST00000593846.1_RNA	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	52						integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					GGCCTCCGTGCCCCCGGTGTT	0.562																																						ENST00000379218.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19						c.(151-153)ccfs		solute carrier family 26, member 10							522.0	493.0	503.0					12																	58014154		2203	4300	6503	SO:0001589	frameshift_variant	65012					integral to membrane	antiporter activity	g.chr12:58014154delC		CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"""Solute carriers"""	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.151delC	12.37:g.58014154delC	ENSP00000320217:p.Pro52fs					SLC26A10_ENST00000320442.4_Frame_Shift_Del_p.P52fs	p.P52fs			Q8NG04	S2610_HUMAN			1	462	+	Melanoma(17;0.122)		52					A6NMJ2|B6ZDQ3|Q6ZWI7	Frame_Shift_Del	DEL	ENST00000320442.4	37	c.151delC	CCDS8949.2																																																																																				0.562	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250311.2			7	825						7	825	---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32911001	32911002	+	Frame_Shift_Ins	INS	-	-	A			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr13:32911001_32911002insA	ENST00000380152.3	+	11	2742_2743	c.2509_2510insA	c.(2509-2511)gaafs	p.E837fs	BRCA2_ENST00000544455.1_Frame_Shift_Ins_p.E837fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	837	Interaction with NPM1.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GTTGCCACCTGAAAAATACATG	0.307			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(2509-2511)aaafs	Homologous recombination	breast cancer 2, early onset																																				SO:0001589	frameshift_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32911001_32911002insA	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.2514dupA	13.37:g.32911006_32911006dupA	ENSP00000369497:p.Glu837fs	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Frame_Shift_Ins_p.K837fs	p.K837fs	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	2736_2737	+		Lung SC(185;0.0262)	837			Interaction with NPM1.		O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Ins	INS	ENST00000380152.3	37	c.2509_2510insA	CCDS9344.1																																																																																				0.307	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		7	59						7	59	---	---	---	---
GALK1	2584	broad.mit.edu	37	17	73758797	73758797	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MT-A67D-01A-31D-A30E-08	TCGA-MT-A67D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1755566d-3b50-4ce5-b912-577022096fd5	7986c53f-94a9-4dad-bfac-359d75bad617	g.chr17:73758797delC	ENST00000588479.1	-	5	1355	c.781delG	c.(781-783)gaafs	p.E262fs	GALK1_ENST00000225614.2_Frame_Shift_Del_p.E262fs|GALK1_ENST00000437911.1_Frame_Shift_Del_p.E292fs			P51570	GALK1_HUMAN	galactokinase 1	262					carbohydrate metabolic process (GO:0005975)|galactitol metabolic process (GO:0019402)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|galactose binding (GO:0005534)			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCTAGCTCTTCCAGTTGTACC	0.667																																						ENST00000588479.1																			0				endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5						c.(781-783)aafs		galactokinase 1							64.0	61.0	62.0					17																	73758797		2203	4300	6503	SO:0001589	frameshift_variant	2584				galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding	g.chr17:73758797delC		CCDS11728.1	17q25.1	2013-09-19			ENSG00000108479	ENSG00000108479	2.7.1.6		4118	protein-coding gene	gene with protein product		604313		GALK		7670469	Standard	NM_000154		Approved		uc002jpk.3	P51570	OTTHUMG00000179832	ENST00000588479.1:c.781delG	17.37:g.73758797delC	ENSP00000465930:p.Glu262fs					GALK1_ENST00000437911.1_Frame_Shift_Del_p.E292fs|GALK1_ENST00000225614.2_Frame_Shift_Del_p.E262fs	p.E262fs			P51570	GALK1_HUMAN	all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		5	1355	-	all_cancers(13;1.5e-07)		262					B2RC07|B4E1G6	Frame_Shift_Del	DEL	ENST00000588479.1	37	c.781delG	CCDS11728.1																																																																																				0.667	GALK1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448430.1			14	77						14	77	---	---	---	---
