#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
ACSM5	54988	broad.mit.edu	37	16	20423005	20423005	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr16:20423005G>A	ENST00000331849.4	+	2	346	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	ACSM5_ENST00000575584.1_Missense_Mutation_p.E67K	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	67					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GAGTCGGCTGGAAGAGGTGAA	0.557																																						ENST00000331849.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.(199-201)Gaa>Aaa		acyl-CoA synthetase medium-chain family member 5							73.0	60.0	64.0					16																	20423005		2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20423005G>A		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.199G>A	16.37:g.20423005G>A	ENSP00000327916:p.Glu67Lys					ACSM5_ENST00000575584.1_Missense_Mutation_p.E67K	p.E67K	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN			2	346	+			67					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.199G>A	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088457	0.76756	.	.	ENSG00000183549	ENST00000331849	T	0.38077	1.16	4.69	4.69	0.59074	.	0.000000	0.64402	D	0.000017	T	0.47358	0.1441	L	0.43152	1.355	0.35474	D	0.797622	D	0.76494	0.999	D	0.63957	0.92	T	0.59252	-0.7489	10	0.87932	D	0	-22.6271	11.0022	0.47614	0.0864:0.0:0.9136:0.0	.	67	Q6NUN0	ACSM5_HUMAN	K	67	ENSP00000327916:E67K	ENSP00000327916:E67K	E	+	1	0	ACSM5	20330506	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	4.757000	0.62213	2.417000	0.82017	0.655000	0.94253	GAA		0.557	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		5	222	0	0	0	1	0	5	222				
SHOX	6473	broad.mit.edu	37	X	591887	591887	+	Silent	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chrX:591887C>T	ENST00000554971.1	+	1	346	c.255C>T	c.(253-255)ttC>ttT	p.F85F	SHOX_ENST00000334060.3_Silent_p.F85F|SHOX_ENST00000381575.1_Silent_p.F85F|SHOX_ENST00000381578.1_Silent_p.F85F			O15266	SHOX_HUMAN	short stature homeobox	85					skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGAAAGAATTCGGCACCGCGA	0.642																																					Ovarian(95;18 1419 12424 14056 28266)	ENST00000381578.1																			0				endometrium(3)|lung(9)|prostate(1)	13						c.(253-255)ttC>ttT		short stature homeobox							61.0	72.0	68.0					X																	591887		2203	4296	6499	SO:0001819	synonymous_variant	6473				skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:591887C>T	U82668	CCDS14106.1, CCDS14107.1	Xp22.33 and Yp11.32	2014-07-16			ENSG00000185960	ENSG00000185960		"""Pseudoautosomal regions / PAR1"", ""Homeoboxes / PRD class"""	10853	protein-coding gene	gene with protein product		312865, 400020				9259282, 9140395	Standard	XR_247282		Approved	PHOG, GCFX, SS, SHOXY	uc004cph.1	O15266	OTTHUMG00000021053	ENST00000554971.1:c.255C>T	X.37:g.591887C>T						SHOX_ENST00000334060.3_Silent_p.F85F|SHOX_ENST00000554971.1_Silent_p.F85F|SHOX_ENST00000381575.1_Silent_p.F85F	p.F85F	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN			2	946	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	85					O00412|O00413|O15267	Silent	SNP	ENST00000554971.1	37	c.255C>T	CCDS14107.1																																																																																				0.642	SHOX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411999.3	NM_000451		11	354	0	0	0	1	0	11	354				
ERC2	26059	broad.mit.edu	37	3	55733472	55733472	+	Silent	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr3:55733472G>A	ENST00000288221.6	-	16	3036	c.2781C>T	c.(2779-2781)caC>caT	p.H927H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	927	Poly-His.					cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		ggtggtgatggtggtggtggt	0.507																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(2779-2781)caC>caT		ELKS/RAB6-interacting/CAST family member 2							247.0	254.0	252.0					3																	55733472		2086	4219	6305	SO:0001819	synonymous_variant	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:55733472G>A	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2781C>T	3.37:g.55733472G>A							p.H927H	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	16	3036	-			927			Poly-His.		Q2T9F6|Q86TK4	Silent	SNP	ENST00000288221.6	37	c.2781C>T	CCDS46851.1																																																																																				0.507	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		6	701	0	0	0	1	0	6	701				
ACTRT2	140625	broad.mit.edu	37	1	2938676	2938676	+	Silent	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:2938676G>A	ENST00000378404.2	+	1	631	c.426G>A	c.(424-426)gcG>gcA	p.A142A		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	142						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CGGACCAGGCGGTGCTGGCTC	0.622																																						ENST00000378404.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(424-426)gcG>gcA		actin-related protein T2							67.0	62.0	64.0					1																	2938676		2203	4300	6503	SO:0001819	synonymous_variant	140625					cytoplasm|cytoskeleton		g.chr1:2938676G>A	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.426G>A	1.37:g.2938676G>A							p.A142A	NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	1	631	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	142					B1AN52|Q8NHS6|Q8TDG1	Silent	SNP	ENST00000378404.2	37	c.426G>A	CCDS45.1																																																																																				0.622	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431		7	203	0	0	0	1	0	7	203				
FRG1B	284802	broad.mit.edu	37	20	29628299	29628299	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr20:29628299A>G	ENST00000278882.3	+	6	681	c.301A>G	c.(301-303)Agt>Ggt	p.S101G	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGAAGCAAAAAGTAAAACAGC	0.363																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)Agt>Ggt																																						SO:0001583	missense	0							g.chr20:29628299A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.301A>G	20.37:g.29628299A>G	ENSP00000278882:p.Ser101Gly					FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G	p.S101G							6	681	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.301A>G		.	.	.	.	.	.	.	.	.	.	a	16.61	3.170807	0.57584	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50001	0.76	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	D	0.000001	T	0.38719	0.1051	.	.	.	0.42178	D	0.991671	B;P	0.36483	0.147;0.555	B;B	0.37731	0.138;0.257	T	0.38178	-0.9673	9	0.62326	D	0.03	.	8.0833	0.30758	1.0:0.0:0.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	G	101;106;101	ENSP00000408863:S106G	ENSP00000278882:S101G	S	+	1	0	FRG1B	28241960	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.085000	0.89518	1.208000	0.43306	0.347000	0.21830	AGT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		10	397	0	0	0	1	0	10	397				
GRIA2	2891	broad.mit.edu	37	4	158262587	158262587	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr4:158262587C>G	ENST00000264426.9	+	12	2295	c.2016C>G	c.(2014-2016)gaC>gaG	p.D672E	GRIA2_ENST00000507898.1_Missense_Mutation_p.D625E|GRIA2_ENST00000449365.1_Missense_Mutation_p.D625E|GRIA2_ENST00000296526.7_Missense_Mutation_p.D672E|GRIA2_ENST00000393815.2_Missense_Mutation_p.D625E	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	672					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GAACATTAGACTCTGGCTCCA	0.398																																						ENST00000296526.7																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(2014-2016)gaC>gaG		glutamate receptor, ionotropic, AMPA 2	L-Glutamic Acid(DB00142)						134.0	130.0	132.0					4																	158262587		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158262587C>G		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.2016C>G	4.37:g.158262587C>G	ENSP00000264426:p.Asp672Glu					GRIA2_ENST00000393815.2_Missense_Mutation_p.D625E|GRIA2_ENST00000264426.9_Missense_Mutation_p.D672E|GRIA2_ENST00000449365.1_Missense_Mutation_p.D625E|GRIA2_ENST00000507898.1_Missense_Mutation_p.D625E	p.D672E	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	12	2341	+	all_hematologic(180;0.24)	Renal(120;0.0458)	672					A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.2016C>G	CCDS43274.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.87|11.87	1.767205|1.767205	0.31320|0.31320	.|.	.|.	ENSG00000120251|ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365|ENST00000510854	T;T;T;T;T|.	0.39056|.	1.1;1.1;1.1;1.1;1.1|.	5.53|5.53	3.81|3.81	0.43845|0.43845	Ionotropic glutamate receptor (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.20455|0.20455	0.0492|0.0492	N|N	0.02286|0.02286	-0.61|-0.61	0.53005|0.53005	D|D	0.999962|0.999962	D;D;D|.	0.71674|.	0.964;0.998;0.997|.	P;D;D|.	0.81914|.	0.605;0.995;0.992|.	T|T	0.04440|0.04440	-1.0951|-1.0951	10|5	0.11794|.	T|.	0.64|.	.|.	7.1096|7.1096	0.25382|0.25382	0.0:0.6242:0.0:0.3758|0.0:0.6242:0.0:0.3758	.|.	672;672;625|.	P42262;P42262-2;A8MT92|.	GRIA2_HUMAN;.;.|.	E|V	625;625;672;672;625|3	ENSP00000426845:D625E;ENSP00000377403:D625E;ENSP00000296526:D672E;ENSP00000264426:D672E;ENSP00000389837:D625E|.	ENSP00000264426:D672E|.	D|L	+|+	3|1	2|0	GRIA2|GRIA2	158482037|158482037	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.058000|2.058000	0.41374|0.41374	0.812000|0.812000	0.34326|0.34326	-0.137000|-0.137000	0.14449|0.14449	GAC|CTC		0.398	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			8	562	0	0	0	1	0	8	562				
WDR6	11180	broad.mit.edu	37	3	49051722	49051722	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr3:49051722G>A	ENST00000608424.1	+	3	2701	c.2662G>A	c.(2662-2664)Gta>Ata	p.V888I	WDR6_ENST00000448293.1_Missense_Mutation_p.V837I|WDR6_ENST00000415265.2_Missense_Mutation_p.V336I|WDR6_ENST00000395474.3_Missense_Mutation_p.V918I			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	888					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TGATGGGGCCGTAAGGTGAGA	0.597											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000395474.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(2752-2754)Gta>Ata		WD repeat domain 6							58.0	59.0	58.0					3																	49051722		2203	4300	6503	SO:0001583	missense	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49051722G>A	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.2662G>A	3.37:g.49051722G>A	ENSP00000477389:p.Val888Ile		OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	959	WDR6_ENST00000448293.1_Missense_Mutation_p.V837I|WDR6_ENST00000415265.2_Missense_Mutation_p.V336I	p.V918I	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	3	3032	+			888					B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37	c.2752G>A		.	.	.	.	.	.	.	.	.	.	G	23.2	4.384189	0.82792	.	.	ENSG00000178252	ENST00000395474;ENST00000415265;ENST00000448293	T;T;T	0.70045	2.88;-0.45;-0.45	5.58	5.58	0.84498	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.058650	0.64402	D	0.000003	T	0.70281	0.3206	L	0.42245	1.32	0.47949	D	0.999553	D;D;D	0.71674	0.987;0.998;0.983	P;P;B	0.56163	0.531;0.793;0.353	T	0.63528	-0.6617	10	0.12430	T	0.62	-23.2484	18.5456	0.91045	0.0:0.0:1.0:0.0	.	336;888;837	E9PBK6;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	I	918;336;837	ENSP00000378857:V918I;ENSP00000412195:V336I;ENSP00000413432:V837I	ENSP00000378857:V918I	V	+	1	0	WDR6	49026726	0.995000	0.38212	0.999000	0.59377	0.767000	0.43475	2.257000	0.43240	2.626000	0.88956	0.555000	0.69702	GTA		0.597	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			5	214	0	0	0	1	0	5	214				
CDH18	1016	broad.mit.edu	37	5	19473538	19473538	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:19473538C>A	ENST00000507958.1	-	15	3160	c.2170G>T	c.(2170-2172)Gac>Tac	p.D724Y	CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000274170.4_Missense_Mutation_p.D724Y|CDH18_ENST00000382275.1_Missense_Mutation_p.D724Y			Q13634	CAD18_HUMAN	cadherin 18, type 2	724					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GGGTCTAGGTCTGCTTCTGCC	0.483																																						ENST00000507958.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(2170-2172)Gac>Tac		cadherin 18, type 2							190.0	175.0	180.0					5																	19473538		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19473538C>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.2170G>T	5.37:g.19473538C>A	ENSP00000425093:p.Asp724Tyr					CDH18_ENST00000274170.4_Missense_Mutation_p.D724Y|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.D724Y	p.D724Y			Q13634	CAD18_HUMAN			15	3160	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		724					A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.2170G>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985501	0.74589	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	D;D;D	0.81821	-1.54;-1.54;-1.54	6.01	6.01	0.97437	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.93180	0.7828	H	0.95043	3.615	0.58432	D	0.999994	D	0.89917	1.0	D	0.80764	0.994	D	0.94374	0.7598	9	.	.	.	.	19.085	0.93200	0.0:1.0:0.0:0.0	.	724	Q13634	CAD18_HUMAN	Y	724	ENSP00000371710:D724Y;ENSP00000425093:D724Y;ENSP00000274170:D724Y	.	D	-	1	0	CDH18	19509295	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	6.045000	0.71020	2.861000	0.98227	0.650000	0.86243	GAC		0.483	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		8	267	1	0	0.0381472	1	0.0382498	8	267				
MMEL1	79258	broad.mit.edu	37	1	2528091	2528091	+	Missense_Mutation	SNP	C	C	T	rs150030274		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:2528091C>T	ENST00000378412.3	-	14	1471	c.1310G>A	c.(1309-1311)cGt>cAt	p.R437H	MMEL1_ENST00000288709.6_Missense_Mutation_p.R428H|MMEL1_ENST00000502556.1_Missense_Mutation_p.R280H			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	437						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CACACATTCACGCCAGCGCAC	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		15208	0.001		0.0	False		,,,				2504	0.0					ENST00000288709.6																			0				cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27						c.(1282-1284)cGt>cAt		membrane metallo-endopeptidase-like 1		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	120.0	101.0	107.0		1310	4.0	1.0	1	dbSNP_134	107	0,8600		0,0,4300	no	missense	MMEL1	NM_033467.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	437/780	2528091	1,13005	2203	4300	6503	SO:0001583	missense	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2528091C>T	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1310G>A	1.37:g.2528091C>T	ENSP00000367668:p.Arg437His					MMEL1_ENST00000502556.1_Missense_Mutation_p.R280H|MMEL1_ENST00000378412.3_Missense_Mutation_p.R437H	p.R428H	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	14	1523	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	437					B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	c.1283G>A	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	C	18.00	3.524687	0.64747	2.27E-4	0.0	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	D;D;D	0.83837	-1.77;-1.77;-1.77	4.03	4.03	0.46877	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90157	0.6924	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.91416	0.5155	10	0.62326	D	0.03	-30.2369	14.9001	0.70672	0.0:1.0:0.0:0.0	.	437	Q495T6	MMEL1_HUMAN	H	280;428;437;280	ENSP00000288709:R428H;ENSP00000367668:R437H;ENSP00000422492:R280H	ENSP00000288709:R428H	R	-	2	0	MMEL1	2517951	1.000000	0.71417	0.995000	0.50966	0.094000	0.18550	4.443000	0.59994	2.094000	0.63399	0.491000	0.48974	CGT		0.662	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		12	245	0	0	0	1	0	12	245				
REG1A	5967	broad.mit.edu	37	2	79348754	79348754	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:79348754G>A	ENST00000233735.1	+	3	234	c.131G>A	c.(130-132)cGc>cAc	p.R44H		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	44	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.R44H(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						AATGCCTATCGCTCCTACTGC	0.537																																						ENST00000233735.1																			1	Substitution - Missense(1)	p.R44H(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						c.(130-132)cGc>cAc		regenerating islet-derived 1 alpha							176.0	173.0	174.0					2																	79348754		2203	4300	6503	SO:0001583	missense	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79348754G>A		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.131G>A	2.37:g.79348754G>A	ENSP00000233735:p.Arg44His						p.R44H	NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN			3	234	+			44			C-type lectin.		P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	c.131G>A	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	g	13.77	2.335656	0.41398	.	.	ENSG00000115386	ENST00000233735	T	0.08370	3.1	2.85	-1.6	0.08426	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.589271	0.14020	N	0.346859	T	0.07908	0.0198	L	0.58810	1.83	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26643	-1.0097	10	0.46703	T	0.11	.	5.4679	0.16654	0.0:0.33:0.3416:0.3284	.	44;44	A8K7G6;P05451	.;REG1A_HUMAN	H	44	ENSP00000233735:R44H	ENSP00000233735:R44H	R	+	2	0	REG1A	79202262	0.000000	0.05858	0.000000	0.03702	0.486000	0.33341	0.229000	0.17833	-0.396000	0.07703	0.563000	0.77884	CGC		0.537	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		27	735	0	0	0	1	0	27	735				
COL12A1	1303	broad.mit.edu	37	6	75898211	75898211	+	Silent	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr6:75898211G>A	ENST00000322507.8	-	8	1173	c.864C>T	c.(862-864)gcC>gcT	p.A288A	COL12A1_ENST00000483888.2_Silent_p.A288A|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Silent_p.A288A	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	288	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AAGGTGTGGAGGCAATTTGTT	0.408																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(862-864)gcC>gcT		collagen, type XII, alpha 1							160.0	145.0	150.0					6																	75898211		1940	4132	6072	SO:0001819	synonymous_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75898211G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.864C>T	6.37:g.75898211G>A						COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Silent_p.A288A|COL12A1_ENST00000416123.2_Silent_p.A288A	p.A288A	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			8	1173	-			288			VWFA 1.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.864C>T	CCDS43482.1																																																																																				0.408	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		10	381	0	0	0	1	0	10	381				
TNR	7143	broad.mit.edu	37	1	175293512	175293512	+	Missense_Mutation	SNP	C	C	T	rs565736776		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:175293512C>T	ENST00000367674.2	-	22	4645	c.3937G>A	c.(3937-3939)Ggg>Agg	p.G1313R	TNR_ENST00000263525.2_Missense_Mutation_p.G1313R|RP3-518E13.2_ENST00000569593.1_RNA			Q92752	TENR_HUMAN	tenascin R	1313	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CTGGACTCCCCGTACTTCCCA	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		19136	0.0		0.0	False		,,,				2504	0.001					ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(3937-3939)Ggg>Agg		tenascin R							192.0	140.0	158.0					1																	175293512		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175293512C>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3937G>A	1.37:g.175293512C>T	ENSP00000356646:p.Gly1313Arg					RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Missense_Mutation_p.G1313R	p.G1313R	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			22	4645	-	Renal(580;0.146)		1313			Fibrinogen C-terminal.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.3937G>A	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	35	5.471335	0.96274	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.79940	-1.32;-1.32	5.66	5.66	0.87406	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.055436	0.64402	D	0.000001	D	0.89986	0.6874	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90506	0.4477	10	0.87932	D	0	.	19.3551	0.94408	0.0:1.0:0.0:0.0	.	1313	Q92752	TENR_HUMAN	R	1313;1313;1223	ENSP00000356646:G1313R;ENSP00000263525:G1313R	ENSP00000263525:G1313R	G	-	1	0	TNR	173560135	1.000000	0.71417	0.988000	0.46212	0.991000	0.79684	7.711000	0.84669	2.666000	0.90696	0.655000	0.94253	GGG		0.498	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		19	112	0	0	0	1	0	19	112				
SLC9A3	6550	broad.mit.edu	37	5	476448	476448	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:476448C>T	ENST00000264938.3	-	13	1945	c.1936G>A	c.(1936-1938)Gag>Aag	p.E646K	CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.E637K|CTD-2228K2.7_ENST00000606319.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	646	Interaction with PDZD3. {ECO:0000250}.				ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TCCTGTTTCTCGTCCTCCGTG	0.612																																						ENST00000264938.3																			0				NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1936-1938)Gag>Aag		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3							126.0	122.0	124.0					5																	476448		2203	4300	6503	SO:0001583	missense	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:476448C>T		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1936G>A	5.37:g.476448C>T	ENSP00000264938:p.Glu646Lys					CTD-2228K2.7_ENST00000606319.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.E637K|CTD-2228K2.7_ENST00000607286.1_RNA	p.E646K	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		13	1945	-			646			Interaction with PDZD3 (By similarity).		B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	37	c.1936G>A	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887031	0.33348	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.78364	-1.17;-1.17	4.85	2.92	0.33932	.	0.388826	0.18173	U	0.149386	T	0.71451	0.3341	M	0.82716	2.605	0.26426	N	0.976025	P;P	0.43750	0.816;0.614	B;B	0.30495	0.116;0.038	T	0.66337	-0.5949	10	0.44086	T	0.13	.	7.8652	0.29533	0.0:0.749:0.162:0.0891	.	637;646	E9PF67;P48764	.;SL9A3_HUMAN	K	646;637	ENSP00000264938:E646K;ENSP00000422983:E637K	ENSP00000264938:E646K	E	-	1	0	SLC9A3	529448	0.044000	0.20184	0.120000	0.21714	0.070000	0.16714	1.487000	0.35540	1.025000	0.39708	0.467000	0.42956	GAG		0.612	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		106	426	0	0	0	1	0	106	426				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:72663998T>G	ENST00000425256.1	-	0	902									GTF2I repeat domain containing 2 pseudogene 1																		ATAGCCGGGGTCCTTGAATAC	0.488																																						ENST00000425256.1																			0																																																			0							g.chr7:72663998T>G	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72663998T>G								NR_002164.1						0	902	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.488	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		6	351	0	0	0	1	0	6	351				
EML4	27436	broad.mit.edu	37	2	42531673	42531673	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:42531673T>A	ENST00000318522.5	+	17	2211	c.1949T>A	c.(1948-1950)aTa>aAa	p.I650K	EML4_ENST00000402711.2_Missense_Mutation_p.I592K|EML4_ENST00000453191.2_5'UTR|EML4_ENST00000401738.3_Missense_Mutation_p.I661K	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	650					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						GTGGTGGCCATAGGAACGCAC	0.458			T	ALK	NSCLC																																	ENST00000318522.5				Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(543)	0				NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1948-1950)aTa>aAa		echinoderm microtubule associated protein like 4							119.0	115.0	116.0					2																	42531673		2203	4300	6503	SO:0001583	missense	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42531673T>A	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.1949T>A	2.37:g.42531673T>A	ENSP00000320663:p.Ile650Lys					EML4_ENST00000453191.2_5'UTR|EML4_ENST00000402711.2_Missense_Mutation_p.I592K|EML4_ENST00000401738.3_Missense_Mutation_p.I661K	p.I650K	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN			17	2211	+			650					A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	ENST00000318522.5	37	c.1949T>A	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.325626	0.81580	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.58060	0.36;0.36;0.36	4.84	4.84	0.62591	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.042198	0.85682	D	0.000000	T	0.72179	0.3428	M	0.81341	2.54	0.80722	D	1	D;D;D	0.76494	0.995;0.994;0.999	P;P;D	0.67103	0.737;0.827;0.949	T	0.77400	-0.2602	10	0.87932	D	0	-18.3755	14.5909	0.68365	0.0:0.0:0.0:1.0	.	592;661;650	B5MCW9;B5MBZ0;Q9HC35	.;.;EMAL4_HUMAN	K	650;592;661	ENSP00000320663:I650K;ENSP00000385059:I592K;ENSP00000384939:I661K	ENSP00000320663:I650K	I	+	2	0	EML4	42385177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.525000	0.81892	2.037000	0.60232	0.460000	0.39030	ATA		0.458	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		177	241	0	0	0	1	0	177	241				
TUBB8	347688	broad.mit.edu	37	10	94582	94582	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr10:94582C>A	ENST00000309812.4	-	3	312	c.250G>T	c.(250-252)Gtc>Ttc	p.V84F	TUBB8_ENST00000447903.2_Missense_Mutation_p.V12F|TUBB8_ENST00000332708.5_Missense_Mutation_p.R47S|TUBB8_ENST00000413237.3_5'UTR	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	84					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GGCCTGAAGACCTGCCCGAAG	0.662																																					Pancreas(192;2041 3010 9013 18103)	ENST00000447903.2																			0				NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32						c.(34-36)Gtc>Ttc		tubulin, beta 8 class VIII							45.0	55.0	52.0					10																	94582		2202	4298	6500	SO:0001583	missense	347688				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:94582C>A	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.250G>T	10.37:g.94582C>A	ENSP00000311042:p.Val84Phe					TUBB8_ENST00000332708.5_Missense_Mutation_p.R47S|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000309812.4_Missense_Mutation_p.V84F	p.V12F			Q3ZCM7	TBB8_HUMAN		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)	3	349	-		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)	84					Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	c.34G>T	CCDS7051.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.041|1.041	-0.678870|-0.678870	0.03378|0.03378	.|.	.|.	ENSG00000173876|ENSG00000173876	ENST00000332708|ENST00000447903;ENST00000328974;ENST00000309812	.|T;T	.|0.69685	.|-0.42;-0.42	0.109|0.109	-0.218|-0.218	0.13142|0.13142	.|Tubulin/FtsZ, GTPase domain (4);	.|0.338775	.|0.19220	.|U	.|0.119688	T|T	0.40119|0.40119	0.1104|0.1104	N|N	0.08118|0.08118	0|0	0.25793|0.25793	N|N	0.984597|0.984597	.|B	.|0.31274	.|0.317	.|B	.|0.32583	.|0.148	T|T	0.28870|0.28870	-1.0030|-1.0030	6|10	0.87932|0.87932	D|D	0|0	.|.	3.8107|3.8107	0.08795|0.08795	0.0:0.3434:0.0:0.6566|0.0:0.3434:0.0:0.6566	.|.	.|84	.|Q3ZCM7	.|TBB8_HUMAN	S|F	47|12;84;84	.|ENSP00000403895:V12F;ENSP00000311042:V84F	ENSP00000371071:R47S|ENSP00000311042:V84F	R|V	-|-	3|1	2|0	RP11-631M21.2|RP11-631M21.2	84582|84582	0.939000|0.939000	0.31865|0.31865	0.007000|0.007000	0.13788|0.13788	0.007000|0.007000	0.05969|0.05969	-0.116000|-0.116000	0.10724|0.10724	-1.122000|-1.122000	0.02945|0.02945	-1.109000|-1.109000	0.02080|0.02080	AGG|GTC		0.662	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		5	189	1	0	1.26484e-09	1	1.34412e-09	5	189				
ATP10D	57205	broad.mit.edu	37	4	47578836	47578836	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr4:47578836C>T	ENST00000273859.3	+	19	3682	c.3413C>T	c.(3412-3414)tCa>tTa	p.S1138L		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1138					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TGTGGATTTTCAGGAACATCC	0.413																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(3412-3414)tCa>tTa		ATPase, class V, type 10D							402.0	380.0	388.0					4																	47578836		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47578836C>T	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.3413C>T	4.37:g.47578836C>T	ENSP00000273859:p.Ser1138Leu						p.S1138L	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			19	3682	+			1138					A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.3413C>T	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727860	0.89390	.	.	ENSG00000145246	ENST00000273859	T	0.71103	-0.54	5.21	4.37	0.52481	.	0.000000	0.85682	D	0.000000	D	0.90642	0.7065	H	0.99535	4.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93769	0.7073	10	0.87932	D	0	-7.4274	13.0364	0.58875	0.0:0.923:0.0:0.077	.	1138	Q9P241	AT10D_HUMAN	L	1138	ENSP00000273859:S1138L	ENSP00000273859:S1138L	S	+	2	0	ATP10D	47273593	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.651000	0.83577	1.443000	0.47586	0.561000	0.74099	TCA		0.413	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		378	794	0	0	0	1	0	378	794				
MAP1B	4131	broad.mit.edu	37	5	71490089	71490089	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:71490089C>T	ENST00000296755.7	+	5	1205	c.907C>T	c.(907-909)Cga>Tga	p.R303*		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	303					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ACACTTAGACCGAGTGGACTC	0.483																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(907-909)Cga>Tga		microtubule-associated protein 1B							85.0	87.0	86.0					5																	71490089		2203	4300	6503	SO:0001587	stop_gained	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71490089C>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.907C>T	5.37:g.71490089C>T	ENSP00000296755:p.Arg303*						p.R303*	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	1205	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	303					A2BDK5	Nonsense_Mutation	SNP	ENST00000296755.7	37	c.907C>T	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212973	0.79352	.	.	ENSG00000131711	ENST00000296755;ENST00000511641;ENST00000504492	.	.	.	6.07	3.3	0.37823	.	0.000000	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2135	15.6831	0.77388	0.6335:0.3665:0.0:0.0	.	.	.	.	X	303;320;177	.	ENSP00000296755:R303X	R	+	1	2	MAP1B	71525845	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.210000	0.32370	0.426000	0.26116	0.585000	0.79938	CGA		0.483	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		238	261	0	0	0	1	0	238	261				
PCDHGA2	56113	broad.mit.edu	37	5	140720485	140720485	+	Silent	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:140720485C>T	ENST00000394576.2	+	1	1947	c.1947C>T	c.(1945-1947)caC>caT	p.H649H	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	649	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGGACCACGGCCAGCCCC	0.706																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1945-1947)caC>caT									49.0	58.0	54.0					5																	140720485		2202	4298	6500	SO:0001819	synonymous_variant	0							g.chr5:140720485C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1947C>T	5.37:g.140720485C>T						PCDHGA1_ENST00000517417.1_Intron	p.H649H	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1947	+								Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.1947C>T	CCDS47289.1																																																																																				0.706	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		32	812	0	0	0	1	0	32	812				
CHST11	50515	broad.mit.edu	37	12	105150785	105150785	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr12:105150785C>T	ENST00000303694.5	+	3	702	c.263C>T	c.(262-264)aCg>aTg	p.T88M	CHST11_ENST00000549260.1_Missense_Mutation_p.T83M	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	88					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GTGACAGACACGTGCCGAGCC	0.587																																						ENST00000303694.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						c.(262-264)aCg>aTg		carbohydrate (chondroitin 4) sulfotransferase 11							49.0	41.0	44.0					12																	105150785		2203	4300	6503	SO:0001583	missense	50515				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr12:105150785C>T	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.263C>T	12.37:g.105150785C>T	ENSP00000305725:p.Thr88Met					CHST11_ENST00000549260.1_Missense_Mutation_p.T83M	p.T88M	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN			3	702	+			88					A8K4F8|Q9NXY6|Q9NY36	Missense_Mutation	SNP	ENST00000303694.5	37	c.263C>T	CCDS9099.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.095945	0.36952	.	.	ENSG00000171310	ENST00000549260;ENST00000303694;ENST00000549016	T;T;T	0.68479	-0.33;-0.33;-0.1	5.51	5.51	0.81932	.	0.212101	0.50627	D	0.000115	T	0.57755	0.2075	L	0.42245	1.32	0.80722	D	1	B;B	0.29188	0.236;0.152	B;B	0.27380	0.079;0.036	T	0.55792	-0.8085	10	0.35671	T	0.21	-20.3095	12.7259	0.57170	0.0:0.9252:0.0:0.0748	.	83;88	Q9NPF2-2;Q9NPF2	.;CHSTB_HUMAN	M	83;88;48	ENSP00000450004:T83M;ENSP00000305725:T88M;ENSP00000449095:T48M	ENSP00000305725:T88M	T	+	2	0	CHST11	103674915	1.000000	0.71417	0.992000	0.48379	0.865000	0.49528	4.955000	0.63638	2.600000	0.87896	0.655000	0.94253	ACG		0.587	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413		6	196	0	0	0	1	0	6	196				
PLCH1	23007	broad.mit.edu	37	3	155301425	155301425	+	Missense_Mutation	SNP	C	C	T	rs143246976		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr3:155301425C>T	ENST00000340059.7	-	5	570	c.571G>A	c.(571-573)Gac>Aac	p.D191N	PLCH1_ENST00000334686.6_Missense_Mutation_p.D173N|PLCH1_ENST00000460012.1_Missense_Mutation_p.D173N|PLCH1_ENST00000494598.1_Missense_Mutation_p.D191N|PLCH1_ENST00000414191.1_Missense_Mutation_p.D173N|PLCH1_ENST00000447496.2_Missense_Mutation_p.D191N	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	191	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCATCTGTGTCGGCTTCCTGA	0.323													C|||	1	0.000199681	0.0	0.0	5008	,	,		18353	0.001		0.0	False		,,,				2504	0.0					ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(517-519)Gac>Aac		phospholipase C, eta 1							52.0	54.0	53.0					3																	155301425		2202	4300	6502	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155301425C>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.571G>A	3.37:g.155301425C>T	ENSP00000345988:p.Asp191Asn					PLCH1_ENST00000334686.6_Missense_Mutation_p.D173N|PLCH1_ENST00000447496.2_Missense_Mutation_p.D191N|PLCH1_ENST00000414191.1_Missense_Mutation_p.D173N|PLCH1_ENST00000494598.1_Missense_Mutation_p.D191N|PLCH1_ENST00000340059.7_Missense_Mutation_p.D191N	p.D173N			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		6	874	-			191			EF-hand 1.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.517G>A	CCDS46939.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	31	5.074936	0.94000	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	D;D;D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76;-2.76;-2.76	5.45	5.45	0.79879	EF-hand-like domain (1);	0.219310	0.44902	D	0.000406	D	0.96756	0.8941	M	0.93241	3.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	D	0.97181	0.9851	10	0.59425	D	0.04	.	19.2951	0.94118	0.0:1.0:0.0:0.0	.	173;191;191	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	N	191;173;191;191;173;173	ENSP00000419100:D191N;ENSP00000417502:D173N;ENSP00000402759:D191N;ENSP00000345988:D191N;ENSP00000335469:D173N;ENSP00000412977:D173N	ENSP00000335469:D173N	D	-	1	0	PLCH1	156784119	1.000000	0.71417	0.994000	0.49952	0.828000	0.46876	7.624000	0.83124	2.559000	0.86315	0.591000	0.81541	GAC		0.323	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		10	217	0	0	0	1	0	10	217				
COL5A1	1289	broad.mit.edu	37	9	137622301	137622301	+	Missense_Mutation	SNP	G	G	A	rs148288567		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:137622301G>A	ENST00000371817.3	+	7	1558	c.1144G>A	c.(1144-1146)Gac>Aac	p.D382N		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	382	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CAGCACCGCCGACACCTCCAA	0.622																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(1144-1146)Gac>Aac		collagen, type V, alpha 1		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	59.0	59.0	59.0		1144	-1.6	0.0	9	dbSNP_134	59	0,8600		0,0,4300	no	missense	COL5A1	NM_000093.3	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	382/1839	137622301	1,13005	2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137622301G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1144G>A	9.37:g.137622301G>A	ENSP00000360882:p.Asp382Asn						p.D382N	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	7	1558	+		Myeloproliferative disorder(178;0.0341)	382			Nonhelical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.1144G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	3.520	-0.097928	0.07010	2.27E-4	0.0	ENSG00000130635	ENST00000371817	D	0.89196	-2.48	4.52	-1.57	0.08506	.	3.287560	0.02379	U	0.078670	T	0.75019	0.3793	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.63829	-0.6548	10	0.17832	T	0.49	.	4.5987	0.12343	0.4453:0.3622:0.1925:0.0	.	382	P20908	CO5A1_HUMAN	N	382	ENSP00000360882:D382N	ENSP00000360882:D382N	D	+	1	0	COL5A1	136762122	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.614000	0.05604	-0.163000	0.10946	0.563000	0.77884	GAC		0.622	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		15	315	0	0	0	1	0	15	315				
ZKSCAN3	80317	broad.mit.edu	37	6	28329181	28329181	+	Silent	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr6:28329181C>T	ENST00000377255.3	+	4	780	c.483C>T	c.(481-483)agC>agT	p.S161S	ZKSCAN3_ENST00000341464.5_Silent_p.S13S|ZKSCAN3_ENST00000252211.2_Silent_p.S161S	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	161					autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						CACAAAGTAGCCAATTTCAGC	0.438																																						ENST00000377255.3																			0				kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						c.(481-483)agC>agT		zinc finger with KRAB and SCAN domains 3							112.0	98.0	102.0					6																	28329181		2203	4300	6503	SO:0001819	synonymous_variant	80317				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28329181C>T	U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13853	protein-coding gene	gene with protein product		612791	"""zinc finger protein 306"", ""zinc finger protein 309"""	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.483C>T	6.37:g.28329181C>T						ZKSCAN3_ENST00000252211.2_Silent_p.S161S|ZKSCAN3_ENST00000341464.5_Silent_p.S13S	p.S161S	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN			4	780	+			161					B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Silent	SNP	ENST00000377255.3	37	c.483C>T	CCDS4650.1																																																																																				0.438	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493		92	185	0	0	0	1	0	92	185				
LMAN1L	79748	broad.mit.edu	37	15	75113416	75113416	+	Splice_Site	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr15:75113416G>A	ENST00000309664.5	+	9	1047	c.908G>A	c.(907-909)gGg>gAg	p.G303E	RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Splice_Site_p.G291E	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	303						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TAATCCCCAGGGGAAAGGCTC	0.617																																						ENST00000309664.5																			0				NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.e9-1		lectin, mannose-binding, 1 like							21.0	22.0	22.0					15																	75113416		2192	4283	6475	SO:0001630	splice_region_variant	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75113416G>A	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.908-1G>A	15.37:g.75113416G>A						LMAN1L_ENST00000379709.3_Splice_Site_p.G291_splice|RP11-414J4.2_ENST00000564823.1_RNA	p.G303_splice	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN			9	1047	+			303					Q6UWN2	Splice_Site	SNP	ENST00000309664.5	37	c.907_splice	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.611114	0.28712	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	T;T	0.37235	1.23;1.21	5.43	3.56	0.40772	.	0.823590	0.10633	N	0.651926	T	0.19287	0.0463	N	0.08118	0	0.80722	D	1	P;P	0.46277	0.875;0.802	B;B	0.40825	0.341;0.184	T	0.01371	-1.1372	9	.	.	.	.	8.4292	0.32746	0.18:0.0:0.82:0.0	.	291;303	Q9HAT1-3;Q9HAT1	.;LMA1L_HUMAN	E	303;291	ENSP00000310431:G303E;ENSP00000369031:G291E	.	G	+	2	0	LMAN1L	72900469	0.935000	0.31712	0.967000	0.41034	0.346000	0.29079	1.242000	0.32755	0.785000	0.33685	-0.140000	0.14226	GGG		0.617	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4		Missense_Mutation	13	11	0	0	0	1	0	13	11				
CCDC71	64925	broad.mit.edu	37	3	49200839	49200839	+	Missense_Mutation	SNP	C	C	T	rs370573313		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr3:49200839C>T	ENST00000321895.6	-	2	909	c.803G>A	c.(802-804)cGg>cAg	p.R268Q		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	268										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TTTCATTCGCCGGACACTGGG	0.642																																						ENST00000321895.6																			0				endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10						c.(802-804)cGg>cAg		coiled-coil domain containing 71		C	GLN/ARG	0,4406		0,0,2203	61.0	65.0	64.0		803	-10.5	0.0	3		64	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC71	NM_022903.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	268/468	49200839	1,13005	2203	4300	6503	SO:0001583	missense	64925							g.chr3:49200839C>T	AK022862	CCDS2790.1	3p21.31	2014-02-12			ENSG00000177352	ENSG00000177352			25760	protein-coding gene	gene with protein product						12477932	Standard	NM_022903		Approved	FLJ12800	uc003cwg.4	Q8IV32	OTTHUMG00000156815	ENST00000321895.6:c.803G>A	3.37:g.49200839C>T	ENSP00000319006:p.Arg268Gln						p.R268Q	NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	909	-			268					Q6IPE2|Q9H8H4|Q9H9F1	Missense_Mutation	SNP	ENST00000321895.6	37	c.803G>A	CCDS2790.1	.	.	.	.	.	.	.	.	.	.	C	2.331	-0.353435	0.05173	0.0	1.16E-4	ENSG00000177352	ENST00000321895	T	0.33865	1.39	5.27	-10.5	0.00291	.	2.313130	0.02279	N	0.069261	T	0.15089	0.0364	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.12451	-1.0547	10	0.22109	T	0.4	-10.645	2.3731	0.04335	0.1081:0.3023:0.3283:0.2613	.	268	Q8IV32	CCD71_HUMAN	Q	268	ENSP00000319006:R268Q	ENSP00000319006:R268Q	R	-	2	0	CCDC71	49175843	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.669000	0.05262	-2.865000	0.00325	-1.509000	0.00949	CGG		0.642	CCDC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345980.1	NM_022903		10	443	0	0	0	1	0	10	443				
CROCCP2	84809	broad.mit.edu	37	1	16945409	16945409	+	lincRNA	SNP	T	T	A	rs13566	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:16945409T>A	ENST00000412962.1	-	0	2110				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCGGGATAGCTCGGTGGAGAG	0.612													.|||	1533	0.30611	0.2254	0.3473	5008	,	,		64331	0.2113		0.3767	False		,,,				2504	0.411					ENST00000412962.1																			0																																																			0							g.chr1:16945409T>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945409T>A														0	2110	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.612	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		12	129	0	0	0	1	0	12	129				
PIK3R1	5295	broad.mit.edu	37	5	67589652	67589652	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:67589652G>A	ENST00000521381.1	+	11	2031	c.1415G>A	c.(1414-1416)cGc>cAc	p.R472H	PIK3R1_ENST00000521657.1_Missense_Mutation_p.R472H|PIK3R1_ENST00000336483.5_Missense_Mutation_p.R202H|PIK3R1_ENST00000274335.5_Missense_Mutation_p.R472H|PIK3R1_ENST00000396611.1_Missense_Mutation_p.R472H|PIK3R1_ENST00000320694.8_Missense_Mutation_p.R172H|PIK3R1_ENST00000523872.1_Missense_Mutation_p.R109H	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	472					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.D434_Q475del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GAATATACCCGCACATCCCAG	0.279			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		3	Whole gene deletion(1)|Deletion - In frame(1)|Unknown(1)	p.D434_Q475del(1)|p.0?(1)|p.?(1)	large_intestine(1)|lung(1)|endometrium(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1414-1416)cGc>cAc		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)						40.0	43.0	42.0					5																	67589652		2184	4262	6446	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589652G>A	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1415G>A	5.37:g.67589652G>A	ENSP00000428056:p.Arg472His	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000336483.5_Missense_Mutation_p.R202H|PIK3R1_ENST00000523872.1_Missense_Mutation_p.R109H|PIK3R1_ENST00000521657.1_Missense_Mutation_p.R472H|PIK3R1_ENST00000274335.5_Missense_Mutation_p.R472H|PIK3R1_ENST00000320694.8_Missense_Mutation_p.R172H|PIK3R1_ENST00000396611.1_Missense_Mutation_p.R472H	p.R472H	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	11	2031	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	472					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1415G>A	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	G	33	5.289331	0.95517	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000521409;ENST00000336483;ENST00000519025;ENST00000523872	T;T;T;T;D;T;D;T;D	0.82711	-0.52;-0.52;-0.39;-0.52;-1.52;0.82;-1.53;0.38;-1.64	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.91216	0.7232	M	0.81239	2.535	0.80722	D	1	D;D;D;D	0.89917	0.995;0.999;0.999;1.0	P;P;P;D	0.68621	0.551;0.806;0.738;0.959	D	0.91021	0.4857	10	0.51188	T	0.08	-11.0248	19.0691	0.93125	0.0:0.0:1.0:0.0	.	142;202;172;472	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	H	472;472;472;472;172;109;202;145;109	ENSP00000428056:R472H;ENSP00000429277:R472H;ENSP00000379855:R472H;ENSP00000274335:R472H;ENSP00000323512:R172H;ENSP00000431058:R109H;ENSP00000338554:R202H;ENSP00000429156:R145H;ENSP00000430098:R109H	ENSP00000274335:R472H	R	+	2	0	PIK3R1	67625408	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.208000	0.95075	2.822000	0.97130	0.650000	0.86243	CGC		0.279	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		5	379	0	0	0	1	0	5	379				
ZAN	7455	broad.mit.edu	37	7	100350474	100350474	+	RNA	SNP	T	T	C			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:100350474T>C	ENST00000348028.3	+	0	2911				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S916P(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCCACCATCTCCACGGAAAA	0.502																																						ENST00000542585.1																			2	Substitution - Missense(2)	p.S916P(2)	kidney(2)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							331.0	380.0	365.0					7																	100350474		1868	4101	5969			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350474T>C	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350474T>C						ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2894	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	t	3.601	-0.081651	0.07141	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.63255	-0.03;-0.03;-0.03	3.77	-0.348	0.12613	.	.	.	.	.	T	0.22282	0.0537	N	0.00368	-1.59	0.09310	N	0.999999	B;B	0.10296	0.003;0.0	B;B	0.14023	0.01;0.0	T	0.23655	-1.0182	9	0.30854	T	0.27	.	4.5056	0.11885	0.0:0.4441:0.1597:0.3962	.	916;916	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	916	ENSP00000445943:S916P;ENSP00000445091:S916P;ENSP00000444427:S916P	ENSP00000423579:S916P	S	+	1	0	ZAN	100188410	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-7.053000	0.00045	-0.221000	0.09973	-0.220000	0.12472	TCC		0.502	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		10	1088	0	0	0	1	0	10	1088				
C6orf118	168090	broad.mit.edu	37	6	165715541	165715541	+	Silent	SNP	G	G	A	rs200236975		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr6:165715541G>A	ENST00000230301.8	-	2	290	c.270C>T	c.(268-270)cgC>cgT	p.R90R	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	90								p.R90R(1)		breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CCTCAGAGGCGCGCTCCCCCT	0.657																																						ENST00000230301.8																			1	Substitution - coding silent(1)	p.R90R(1)	lung(1)	breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(268-270)cgC>cgT		chromosome 6 open reading frame 118							69.0	78.0	75.0					6																	165715541		2203	4300	6503	SO:0001819	synonymous_variant	168090							g.chr6:165715541G>A		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.270C>T	6.37:g.165715541G>A						C6orf118_ENST00000543069.1_5'UTR	p.R90R	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	290	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	90					Q8TC11	Silent	SNP	ENST00000230301.8	37	c.270C>T	CCDS5288.1																																																																																				0.657	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		184	120	0	0	0	1	0	184	120				
TECTA	7007	broad.mit.edu	37	11	121033012	121033012	+	Silent	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr11:121033012C>T	ENST00000392793.1	+	16	5476	c.5205C>T	c.(5203-5205)gcC>gcT	p.A1735A	TECTA_ENST00000264037.2_Silent_p.A1735A			O75443	TECTA_HUMAN	tectorin alpha	1735					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCTCCCTGGCCGCCTACGGGG	0.547																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(5203-5205)gcC>gcT		tectorin alpha							28.0	30.0	29.0					11																	121033012		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121033012C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.5205C>T	11.37:g.121033012C>T						TECTA_ENST00000264037.2_Silent_p.A1735A	p.A1735A			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	16	5476	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1735						Silent	SNP	ENST00000392793.1	37	c.5205C>T	CCDS8434.1																																																																																				0.547	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		27	131	0	0	0	1	0	27	131				
TMEM199	147007	broad.mit.edu	37	17	26685942	26685942	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr17:26685942C>T	ENST00000292114.3	+	2	305	c.215C>T	c.(214-216)tCc>tTc	p.S72F	CTB-96E2.7_ENST00000577850.1_RNA|CTB-96E2.3_ENST00000591482.1_RNA|POLDIP2_ENST00000003607.4_5'Flank|MIR4723_ENST00000585070.1_RNA|TMEM199_ENST00000581386.1_3'UTR|TMEM199_ENST00000395404.3_Intron|TMEM199_ENST00000509083.1_Missense_Mutation_p.S72F|POLDIP2_ENST00000540200.1_5'Flank	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199	72						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TTCTCAGATTCCAAACTATAC	0.438																																						ENST00000292114.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.(214-216)tCc>tTc		transmembrane protein 199							127.0	114.0	118.0					17																	26685942		2203	4300	6503	SO:0001583	missense	147007					integral to membrane		g.chr17:26685942C>T	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498	ENST00000292114.3:c.215C>T	17.37:g.26685942C>T	ENSP00000292114:p.Ser72Phe					CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000395404.3_Intron|TMEM199_ENST00000509083.1_Missense_Mutation_p.S72F|TMEM199_ENST00000581386.1_3'UTR	p.S72F	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	2	305	+	all_lung(13;0.000354)|Lung NSC(42;0.00115)		72						Missense_Mutation	SNP	ENST00000292114.3	37	c.215C>T	CCDS11228.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459990	0.84317	.	.	ENSG00000244045	ENST00000292114;ENST00000509083	T;T	0.35236	1.34;1.32	5.63	4.64	0.57946	.	0.398760	0.31392	N	0.007738	T	0.42765	0.1217	L	0.27053	0.805	0.53688	D	0.999973	D;P	0.67145	0.996;0.8	P;B	0.59703	0.862;0.347	T	0.38845	-0.9642	10	0.54805	T	0.06	-4.8233	14.4678	0.67494	0.0:0.853:0.147:0.0	.	72;72	E9PBQ3;Q8N511	.;TM199_HUMAN	F	72	ENSP00000292114:S72F;ENSP00000427614:S72F	ENSP00000292114:S72F	S	+	2	0	TMEM199	23710069	0.105000	0.21958	0.978000	0.43139	0.928000	0.56348	1.898000	0.39809	1.342000	0.45619	0.655000	0.94253	TCC		0.438	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		11	211	0	0	0	1	0	11	211				
POTEC	388468	broad.mit.edu	37	18	14543062	14543062	+	Silent	SNP	A	A	G	rs532182918|rs45469106	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr18:14543062A>G	ENST00000358970.5	-	1	83	c.84T>C	c.(82-84)ttT>ttC	p.F28F	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	28			F -> C (in dbSNP:rs45626231).							NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AGCGGTGGTGAAACCACTTGC	0.547													.|||	49	0.00978435	0.0045	0.0058	5008	,	,		19210	0.0218		0.0099	False		,,,				2504	0.0072					ENST00000358970.5																			0				NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(82-84)ttT>ttC		POTE ankyrin domain family, member C							126.0	109.0	114.0					18																	14543062		692	1591	2283	SO:0001819	synonymous_variant	388468							g.chr18:14543062A>G	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.84T>C	18.37:g.14543062A>G						POTEC_ENST00000389891.4_5'UTR	p.F28F	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	83	-			28		F -> C (in dbSNP:rs45626231).				Silent	SNP	ENST00000358970.5	37	c.84T>C	CCDS45835.1																																																																																				0.547	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		8	596	0	0	0	1	0	8	596				
TAS2R1	50834	broad.mit.edu	37	5	9629468	9629468	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:9629468G>A	ENST00000382492.2	-	1	995	c.677C>T	c.(676-678)gCg>gTg	p.A226V	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	226					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						AGACAGCAACGCGCTGATGGG	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.(676-678)gCg>gTg		taste receptor, type 2, member 1							64.0	72.0	70.0					5																	9629468		2203	4300	6503	SO:0001583	missense	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9629468G>A	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.677C>T	5.37:g.9629468G>A	ENSP00000371932:p.Ala226Val					CTD-2001E22.1_ENST00000504182.2_RNA	p.A226V	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN			1	995	-			226					Q646G8	Missense_Mutation	SNP	ENST00000382492.2	37	c.677C>T	CCDS3876.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.811842	0.70797	.	.	ENSG00000169777	ENST00000382492	T	0.01422	4.91	5.55	5.55	0.83447	.	0.147373	0.43919	D	0.000501	T	0.09069	0.0224	M	0.89095	3.005	0.09310	N	1	D	0.89917	1.0	D	0.68621	0.959	T	0.08249	-1.0731	9	.	.	.	.	10.2602	0.43423	0.0868:0.0:0.9132:0.0	.	226	Q9NYW7	TA2R1_HUMAN	V	226	ENSP00000371932:A226V	.	A	-	2	0	TAS2R1	9682468	0.033000	0.19621	0.008000	0.14137	0.001000	0.01503	2.375000	0.44283	2.894000	0.99253	0.655000	0.94253	GCG		0.498	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			6	256	0	0	0	1	0	6	256				
SALL3	27164	broad.mit.edu	37	18	76753947	76753947	+	Silent	SNP	G	G	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr18:76753947G>T	ENST00000537592.2	+	2	1956	c.1956G>T	c.(1954-1956)ctG>ctT	p.L652L	SALL3_ENST00000575389.2_Silent_p.L652L|SALL3_ENST00000536229.3_Silent_p.L519L	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	652					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCGGGGGGCTGCTAGACTCGA	0.642																																						ENST00000536229.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(1555-1557)ctG>ctT		spalt-like transcription factor 3							24.0	24.0	24.0					18																	76753947		2201	4298	6499	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76753947G>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1956G>T	18.37:g.76753947G>T						SALL3_ENST00000575389.2_Silent_p.L652L|SALL3_ENST00000537592.2_Silent_p.L652L	p.L519L			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	2266	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	652					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.1557G>T	CCDS12013.1																																																																																				0.642	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		8	61	1	0	0.000157383	1	0.000162166	8	61				
GON4L	54856	broad.mit.edu	37	1	155774905	155774905	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:155774905G>A	ENST00000368331.1	-	11	1528	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Nonsense_Mutation_p.R494*|GON4L_ENST00000361040.5_Nonsense_Mutation_p.R494*|GON4L_ENST00000271883.5_Nonsense_Mutation_p.R494*	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	494					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GAACGCGTTCGAAATGCAATG	0.468																																						ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(1480-1482)Cga>Tga		gon-4-like (C. elegans)							102.0	92.0	96.0					1																	155774905		2203	4300	6503	SO:0001587	stop_gained	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155774905G>A	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1480C>T	1.37:g.155774905G>A	ENSP00000357315:p.Arg494*					GON4L_ENST00000271883.5_Nonsense_Mutation_p.R494*|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Nonsense_Mutation_p.R494*|GON4L_ENST00000361040.5_Nonsense_Mutation_p.R494*	p.R494*			Q3T8J9	GON4L_HUMAN			11	1602	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		494					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Nonsense_Mutation	SNP	ENST00000368331.1	37	c.1480C>T		.	.	.	.	.	.	.	.	.	.	G	39	7.425947	0.98275	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	.	.	.	4.93	3.99	0.46301	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0314	0.58845	0.0:0.0:0.7089:0.2911	.	.	.	.	X	494	.	ENSP00000271883:R494X	R	-	1	2	GON4L	154041529	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	2.846000	0.48262	1.263000	0.44181	0.467000	0.42956	CGA		0.468	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		12	352	0	0	0	1	0	12	352				
FAM129B	64855	broad.mit.edu	37	9	130269516	130269516	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:130269516G>A	ENST00000373312.3	-	14	2062	c.1849C>T	c.(1849-1851)Cgg>Tgg	p.R617W	FAM129B_ENST00000373314.3_Missense_Mutation_p.R604W|FAM129B_ENST00000468379.1_5'UTR	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	617					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TTGGCGCGCCGTCGCTTTTCC	0.701																																						ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1849-1851)Cgg>Tgg		family with sequence similarity 129, member B							30.0	30.0	30.0					9																	130269516		2201	4297	6498	SO:0001583	missense	64855						protein binding	g.chr9:130269516G>A	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.1849C>T	9.37:g.130269516G>A	ENSP00000362409:p.Arg617Trp					FAM129B_ENST00000373314.3_Missense_Mutation_p.R604W|FAM129B_ENST00000468379.1_5'UTR	p.R617W	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			14	2062	-			617					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.1849C>T	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091661	0.76756	.	.	ENSG00000136830	ENST00000373314;ENST00000538931;ENST00000373312	T;T	0.28666	1.61;1.6	5.25	3.34	0.38264	.	0.287571	0.35677	N	0.003041	T	0.42200	0.1192	L	0.59436	1.845	0.39887	D	0.97372	D;D	0.71674	0.998;0.998	P;P	0.59012	0.85;0.85	T	0.31081	-0.9956	10	0.52906	T	0.07	-27.9416	8.046	0.30549	0.0858:0.0:0.7502:0.164	.	604;617	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	W	604;267;617	ENSP00000362411:R604W;ENSP00000362409:R617W	ENSP00000362409:R617W	R	-	1	2	FAM129B	129309337	0.888000	0.30383	0.928000	0.36995	0.974000	0.67602	1.184000	0.32053	0.650000	0.30769	0.561000	0.74099	CGG		0.701	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		9	150	0	0	0	1	0	9	150				
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:53856702G>A	ENST00000595091.1	+	5	2993	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R925H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363													.|||	267	0.0533147	0.0484	0.0562	5008	,	,		21751	0.0466		0.0915	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - Missense(3)	p.R925H(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2773-2775)cGt>cAt		zinc finger protein 845							33.0	30.0	31.0					19																	53856702		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856702G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2774G>A	19.37:g.53856702G>A	ENSP00000470005:p.Arg925His					ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2891	+			925						Missense_Mutation	SNP	ENST00000595091.1	37	c.2774G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334080	0.11013	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	2.0	-4.0	0.04057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.58302	1.8	0.09310	N	1	D	0.55800	0.973	P	0.53760	0.734	T	0.43925	-0.9361	9	0.51188	T	0.08	.	10.7803	0.46374	0.0:0.6804:0.1821:0.1375	.	925	Q96IR2	ZN845_HUMAN	H	925;841	ENSP00000388311:R925H	ENSP00000412086:R841H	R	+	2	0	ZNF845	58548514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.662000	0.00032	-1.603000	0.01597	-0.499000	0.04595	CGT		0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		7	143	0	0	0	1	0	7	143				
ATP10A	57194	broad.mit.edu	37	15	25924815	25924815	+	Silent	SNP	C	C	T	rs543352421		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr15:25924815C>T	ENST00000356865.6	-	21	4284	c.4173G>A	c.(4171-4173)ccG>ccA	p.P1391P		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1391					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ACATGGGGGCCGGTGCGCTCA	0.687													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14453	0.0		0.0	False		,,,				2504	0.0					ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(4171-4173)ccG>ccA		ATPase, class V, type 10A							38.0	37.0	37.0					15																	25924815		2203	4299	6502	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25924815C>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.4173G>A	15.37:g.25924815C>T							p.P1391P	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	21	4284	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1391					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.4173G>A	CCDS32178.1																																																																																				0.687	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		17	211	0	0	0	1	0	17	211				
RAD17	5884	broad.mit.edu	37	5	68709938	68709938	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:68709938G>A	ENST00000509734.1	+	18	2543	c.1865G>A	c.(1864-1866)gGa>gAa	p.G622E	RAD17_ENST00000305138.4_Missense_Mutation_p.G611E|RAD17_ENST00000282891.6_Missense_Mutation_p.G525E|RAD17_ENST00000345306.6_Missense_Mutation_p.G611E|RAD17_ENST00000354312.3_Missense_Mutation_p.G611E|RAD17_ENST00000504177.1_3'UTR|RAD17_ENST00000361732.2_Missense_Mutation_p.G611E|MARVELD2_ENST00000325631.5_5'Flank|RAD17_ENST00000521422.1_Missense_Mutation_p.G446E|RAD17_ENST00000380774.3_Missense_Mutation_p.G622E|RAD17_ENST00000358030.2_Missense_Mutation_p.G446E|RAD17_ENST00000354868.5_Missense_Mutation_p.G611E			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	622	Interaction with MCM7.				cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		CTTAATGGAGGACATTCTGCA	0.507								Other conserved DNA damage response genes																														ENST00000509734.1																			0											c.(1864-1866)gGa>gAa	Other conserved DNA damage response genes	RAD17 homolog (S. pombe)							109.0	107.0	107.0					5																	68709938		2203	4300	6503	SO:0001583	missense	5884				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr5:68709938G>A	AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"""RAD1 (S. pombe) homolog"""			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.1865G>A	5.37:g.68709938G>A	ENSP00000426191:p.Gly622Glu					RAD17_ENST00000345306.6_Missense_Mutation_p.G611E|RAD17_ENST00000354868.5_Missense_Mutation_p.G611E|RAD17_ENST00000521422.1_Missense_Mutation_p.G446E|RAD17_ENST00000504177.1_3'UTR|RAD17_ENST00000354312.3_Missense_Mutation_p.G611E|RAD17_ENST00000358030.2_Missense_Mutation_p.G446E|RAD17_ENST00000305138.4_Missense_Mutation_p.G611E|RAD17_ENST00000282891.6_Missense_Mutation_p.G525E|RAD17_ENST00000361732.2_Missense_Mutation_p.G611E|RAD17_ENST00000380774.3_Missense_Mutation_p.G622E	p.G622E			O75943	RAD17_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)	18	2543	+		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	622			Interaction with MCM7.		A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Missense_Mutation	SNP	ENST00000509734.1	37	c.1865G>A	CCDS4003.1	.	.	.	.	.	.	.	.	.	.	G	0.489	-0.876036	0.02550	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000521422;ENST00000354312;ENST00000345306;ENST00000305138;ENST00000282891;ENST00000358030;ENST00000380774	T;T;T;T;T;T;T;T;T;T	0.21361	2.33;2.33;2.33;2.01;2.33;2.33;2.33;2.01;2.01;2.33	5.35	1.21	0.21127	.	0.806755	0.11568	N	0.551030	T	0.18173	0.0436	L	0.60455	1.87	0.09310	N	1	B;B;B	0.12630	0.003;0.006;0.006	B;B;B	0.16289	0.006;0.008;0.015	T	0.32851	-0.9891	10	0.56958	D	0.05	-4.2349	2.3853	0.04364	0.2559:0.1365:0.482:0.1257	.	622;525;611	O75943;O75943-4;O75943-2	RAD17_HUMAN;.;.	E	611;622;611;446;611;611;611;525;446;622	ENSP00000355226:G611E;ENSP00000426191:G622E;ENSP00000346938:G611E;ENSP00000427743:G446E;ENSP00000346271:G611E;ENSP00000311227:G611E;ENSP00000303134:G611E;ENSP00000282891:G525E;ENSP00000350725:G446E;ENSP00000370151:G622E	ENSP00000282891:G525E	G	+	2	0	RAD17	68745694	0.000000	0.05858	0.075000	0.20258	0.072000	0.16883	-0.461000	0.06712	0.249000	0.21456	0.655000	0.94253	GGA		0.507	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		6	624	0	0	0	1	0	6	624				
ELFN1	392617	broad.mit.edu	37	7	1785967	1785967	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:1785967G>A	ENST00000424383.2	+	3	2222	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K	ELFN1_ENST00000541472.1_Missense_Mutation_p.E557K|ELFN1_ENST00000561626.1_Missense_Mutation_p.E579K			P0C7U0	ELFN1_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 1	579					negative regulation of phosphatase activity (GO:0010923)|synapse organization (GO:0050808)	dendrite (GO:0030425)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)	1						GCTCAAGTCCGAGTCCACCTC	0.657																																						ENST00000424383.2																			0				endometrium(1)	1						c.(1735-1737)Gag>Aag		extracellular leucine-rich repeat and fibronectin type III domain containing 1							18.0	18.0	18.0					7																	1785967		692	1590	2282	SO:0001583	missense	392617							g.chr7:1785967G>A		CCDS59046.1	7p22.3	2013-02-11	2011-10-27	2011-10-27	ENSG00000225968	ENSG00000225968		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	33154	protein-coding gene	gene with protein product		614964	"""extracellular leucine-rich repeat and fibronectin type III containing 1"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 1"", ""protein phosphatase 1, regulatory subunit 28"""	PPP1R28		17868438	Standard	NM_001128636		Approved		uc010ksg.2	P0C7U0	OTTHUMG00000151495	ENST00000424383.2:c.1735G>A	7.37:g.1785967G>A	ENSP00000456548:p.Glu579Lys					ELFN1_ENST00000561626.1_Missense_Mutation_p.E579K|ELFN1_ENST00000541472.1_Missense_Mutation_p.E557K	p.E579K							3	2222	+								H3BS57	Missense_Mutation	SNP	ENST00000424383.2	37	c.1735G>A	CCDS59046.1																																																																																				0.657	ELFN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322893.2	NM_001128636		15	19	0	0	0	1	0	15	19				
COL15A1	1306	broad.mit.edu	37	9	101824552	101824552	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:101824552C>A	ENST00000375001.3	+	38	3980	c.3557C>A	c.(3556-3558)gCc>gAc	p.A1186D		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1186	Nonhelical region 10 (NC10).			Missing (in Ref. 2; AAC78500). {ECO:0000305}.	angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCCATTCCTGCCGACAGCCCT	0.443																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(3556-3558)gCc>gAc		collagen, type XV, alpha 1							95.0	90.0	91.0					9																	101824552		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101824552C>A	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.3557C>A	9.37:g.101824552C>A	ENSP00000364140:p.Ala1186Asp						p.A1186D	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			38	3980	+		Acute lymphoblastic leukemia(62;0.0562)	1186	Missing (in Ref. 2; AAC78500).		Nonhelical region 10 (NC10).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.3557C>A	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.549794	0.27652	.	.	ENSG00000204291	ENST00000375001	T	0.43294	0.95	5.88	-0.85	0.10720	Collagenase NC10/endostatin (1);	0.885904	0.10034	N	0.724353	T	0.19886	0.0478	N	0.08118	0	0.21147	N	0.99977	B	0.13145	0.007	B	0.16289	0.015	T	0.29549	-1.0008	10	0.12766	T	0.61	-2.6028	9.8622	0.41120	0.6193:0.3119:0.0:0.0688	.	1186	P39059	COFA1_HUMAN	D	1186	ENSP00000364140:A1186D	ENSP00000364140:A1186D	A	+	2	0	COL15A1	100864373	0.125000	0.22332	0.069000	0.20011	0.958000	0.62258	0.430000	0.21428	-0.117000	0.11872	-0.324000	0.08512	GCC		0.443	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		7	366	1	0	2.74318e-10	1	2.93182e-10	7	366				
RXFP3	51289	broad.mit.edu	37	5	33937967	33937967	+	Silent	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:33937967C>T	ENST00000330120.3	+	1	1477	c.1122C>T	c.(1120-1122)agC>agT	p.S374S		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	374					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						TCCCTGTGAGCGTGTGCCTAG	0.622																																						ENST00000330120.3																			0				endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						c.(1120-1122)agC>agT		relaxin/insulin-like family peptide receptor 3							109.0	109.0	109.0					5																	33937967		2203	4300	6503	SO:0001819	synonymous_variant	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937967C>T	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.1122C>T	5.37:g.33937967C>T							p.S374S	NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN			1	1477	+			374					Q14DA5	Silent	SNP	ENST00000330120.3	37	c.1122C>T	CCDS3900.1																																																																																				0.622	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		27	527	0	0	0	1	0	27	527				
TRIM67	440730	broad.mit.edu	37	1	231337128	231337128	+	Missense_Mutation	SNP	G	G	A	rs530421369		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:231337128G>A	ENST00000366653.5	+	5	1399	c.1399G>A	c.(1399-1401)Gtc>Atc	p.V467I	TRIM67_ENST00000444294.3_Missense_Mutation_p.V467I|TRIM67_ENST00000449018.3_Missense_Mutation_p.V405I|TRIM67_ENST00000366652.2_Missense_Mutation_p.V467I			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	467	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GATCAAGCGCGTCCAGGTGTC	0.532													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19544	0.0		0.0	False		,,,				2504	0.0					ENST00000444294.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1399-1401)Gtc>Atc		tripartite motif containing 67							38.0	40.0	39.0					1																	231337128		1966	4158	6124	SO:0001583	missense	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231337128G>A	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1399G>A	1.37:g.231337128G>A	ENSP00000355613:p.Val467Ile					TRIM67_ENST00000366652.2_Missense_Mutation_p.V467I|TRIM67_ENST00000366653.5_Missense_Mutation_p.V467I|TRIM67_ENST00000449018.3_Missense_Mutation_p.V405I	p.V467I	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN			5	2257	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	467			COS.		Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	c.1399G>A	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	G	35	5.413838	0.96072	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.71817	-0.6;-0.47;-0.56;-0.58	5.41	5.41	0.78517	B-box, C-terminal (1);COS domain (1);	0.000000	0.85682	D	0.000000	T	0.70833	0.3269	L	0.52905	1.665	0.80722	D	1	P	0.51933	0.949	P	0.45681	0.49	T	0.68164	-0.5481	10	0.23302	T	0.38	.	19.1865	0.93645	0.0:0.0:1.0:0.0	.	467	Q6ZTA4	TRI67_HUMAN	I	467;467;405;467	ENSP00000412124:V467I;ENSP00000355612:V467I;ENSP00000400163:V405I;ENSP00000355613:V467I	ENSP00000355612:V467I	V	+	1	0	TRIM67	229403751	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.835000	0.99442	2.530000	0.85305	0.555000	0.69702	GTC		0.532	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		50	43	0	0	0	1	0	50	43				
ATL2	64225	broad.mit.edu	37	2	38536594	38536594	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:38536594G>A	ENST00000378954.4	-	9	999	c.998C>T	c.(997-999)gCc>gTc	p.A333V	ATL2_ENST00000452935.2_Missense_Mutation_p.A315V|ATL2_ENST00000332337.4_Missense_Mutation_p.A315V|ATL2_ENST00000406122.1_Missense_Mutation_p.A162V|ATL2_ENST00000419554.2_Missense_Mutation_p.A333V|ATL2_ENST00000402054.1_Missense_Mutation_p.A162V|ATL2_ENST00000546051.1_Missense_Mutation_p.A162V|ATL2_ENST00000539122.1_Missense_Mutation_p.A162V	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	333	GB1/RHD3-type G.				endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						ATTTTCAGGGGCAAGCAGCAA	0.333																																						ENST00000378954.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(997-999)gCc>gTc		atlastin GTPase 2							90.0	90.0	90.0					2																	38536594		2203	4300	6503	SO:0001583	missense	64225				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	g.chr2:38536594G>A		CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787			24047	protein-coding gene	gene with protein product		609368	"""ADP-ribosylation factor-like 6 interacting protein 2"""	ARL6IP2		10508919, 18270207	Standard	NM_022374		Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.998C>T	2.37:g.38536594G>A	ENSP00000368237:p.Ala333Val					ATL2_ENST00000546051.1_Missense_Mutation_p.A162V|ATL2_ENST00000406122.1_Missense_Mutation_p.A162V|ATL2_ENST00000539122.1_Missense_Mutation_p.A162V|ATL2_ENST00000452935.2_Missense_Mutation_p.A315V|ATL2_ENST00000332337.4_Missense_Mutation_p.A315V|ATL2_ENST00000402054.1_Missense_Mutation_p.A162V|ATL2_ENST00000419554.2_Missense_Mutation_p.A333V	p.A333V	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN			9	999	-			333					B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Missense_Mutation	SNP	ENST00000378954.4	37	c.998C>T	CCDS46260.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.378341|5.378341	0.95945|0.95945	.|.	.|.	ENSG00000119787|ENSG00000119787	ENST00000378954;ENST00000406122;ENST00000402054;ENST00000539122;ENST00000332337;ENST00000419554;ENST00000452935;ENST00000546051;ENST00000449130|ENST00000443098	T;T;T;T;T;T;T;T;T|.	0.75050|.	-0.9;0.08;0.08;0.08;-0.9;-0.9;-0.9;0.08;0.08|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Guanylate-binding protein, N-terminal (1);|.	0.138974|.	0.64402|.	D|.	0.000004|.	D|D	0.83640|0.83640	0.5298|0.5298	M|M	0.84948|0.84948	2.725|2.725	0.80722|0.80722	D|D	1|1	P;P;P;P;B|.	0.39862|.	0.608;0.459;0.692;0.523;0.293|.	B;P;B;B;P|.	0.45343|.	0.424;0.477;0.345;0.444;0.477|.	D|D	0.83435|0.83435	0.0040|0.0040	10|5	0.72032|.	D|.	0.01|.	-9.2456|-9.2456	19.8676|19.8676	0.96824|0.96824	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	162;315;315;333;333|.	B5MCN0;B7Z7X8;Q8NHH9-4;Q8NHH9-2;Q8NHH9|.	.;.;.;.;ATLA2_HUMAN|.	V|S	333;162;162;162;315;333;315;162;151|252	ENSP00000368237:A333V;ENSP00000385446:A162V;ENSP00000384062:A162V;ENSP00000446192:A162V;ENSP00000333393:A315V;ENSP00000415336:A333V;ENSP00000390743:A315V;ENSP00000438938:A162V;ENSP00000409811:A151V|.	ENSP00000333393:A315V|.	A|P	-|-	2|1	0|0	ATL2|ATL2	38390098|38390098	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.719000|7.719000	0.84751|0.84751	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.333	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219886.2	NM_022374		5	388	0	0	0	1	0	5	388				
CACNA2D3	55799	broad.mit.edu	37	3	54604068	54604068	+	Silent	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr3:54604068G>A	ENST00000474759.1	+	8	873	c.825G>A	c.(823-825)gcG>gcA	p.A275A	CACNA2D3_ENST00000288197.5_Silent_p.A275A|CACNA2D3_ENST00000415676.2_Silent_p.A275A|CACNA2D3_ENST00000490478.1_Silent_p.A181A	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	275	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	TGACTATCGCGAAGCAAACAG	0.473																																						ENST00000474759.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59						c.(823-825)gcG>gcA		calcium channel, voltage-dependent, alpha 2/delta subunit 3							189.0	183.0	185.0					3																	54604068		2025	4187	6212	SO:0001819	synonymous_variant	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54604068G>A	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.825G>A	3.37:g.54604068G>A						CACNA2D3_ENST00000415676.2_Silent_p.A275A|CACNA2D3_ENST00000490478.1_Silent_p.A181A|CACNA2D3_ENST00000288197.5_Silent_p.A275A	p.A275A	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	8	873	+			275			VWFA.		B2RPL6|Q9NY16|Q9NY18	Silent	SNP	ENST00000474759.1	37	c.825G>A	CCDS54598.1																																																																																				0.473	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			12	599	0	0	0	1	0	12	599				
TACR3	6870	broad.mit.edu	37	4	104640413	104640413	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr4:104640413C>A	ENST00000304883.2	-	1	560	c.420G>T	c.(418-420)ttG>ttT	p.L140F		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	140					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TGAAATTGACCAACGTGTTGA	0.532																																						ENST00000304883.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(418-420)ttG>ttT		tachykinin receptor 3							109.0	99.0	102.0					4																	104640413		2203	4300	6503	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104640413C>A	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.420G>T	4.37:g.104640413C>A	ENSP00000303325:p.Leu140Phe						p.L140F	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	1	560	-		Hepatocellular(203;0.217)	140					Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.420G>T	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633031	0.67015	.	.	ENSG00000169836	ENST00000304883	T	0.36520	1.25	5.26	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000007	T	0.48537	0.1505	M	0.63428	1.95	0.38669	D	0.95225	D	0.57257	0.979	P	0.57468	0.821	T	0.54057	-0.8350	10	0.62326	D	0.03	.	9.2795	0.37720	0.0:0.7609:0.1571:0.082	.	140	P29371	NK3R_HUMAN	F	140	ENSP00000303325:L140F	ENSP00000303325:L140F	L	-	3	2	TACR3	104859862	0.006000	0.16342	1.000000	0.80357	0.977000	0.68977	-0.274000	0.08537	1.210000	0.43336	0.591000	0.81541	TTG		0.532	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		6	229	1	0	5.18039e-06	1	5.42777e-06	6	229				
APOB	338	broad.mit.edu	37	2	21250863	21250863	+	Missense_Mutation	SNP	C	C	T	rs202001155		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:21250863C>T	ENST00000233242.1	-	14	2031	c.1904G>A	c.(1903-1905)cGg>cAg	p.R635Q	APOB_ENST00000399256.4_Missense_Mutation_p.R635Q	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	635	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGATAGTTCCGAGAGAATTT	0.363													C|||	1	0.000199681	0.0	0.0	5008	,	,		19882	0.001		0.0	False		,,,				2504	0.0					ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(1903-1905)cGg>cAg		apolipoprotein B	Atorvastatin(DB01076)						120.0	124.0	122.0					2																	21250863		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21250863C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1904G>A	2.37:g.21250863C>T	ENSP00000233242:p.Arg635Gln					APOB_ENST00000399256.4_Missense_Mutation_p.R635Q	p.R635Q	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			14	2031	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		635			Vitellogenin.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.1904G>A	CCDS1703.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.13	3.311138	0.60414	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.21932	1.98;1.98	5.85	4.03	0.46877	Lipid transport protein, beta-sheet shell (1);Lipid transport protein, N-terminal (1);Vitellinogen, open beta-sheet (1);Vitellinogen, superhelical (2);	0.163734	0.38492	N	0.001671	T	0.17746	0.0426	L	0.52266	1.64	0.34132	D	0.665424	B	0.33000	0.393	B	0.28305	0.088	T	0.24799	-1.0150	10	0.42905	T	0.14	.	9.4808	0.38900	0.0:0.7285:0.0:0.2715	.	635	P04114	APOB_HUMAN	Q	635	ENSP00000233242:R635Q;ENSP00000382200:R635Q	ENSP00000233242:R635Q	R	-	2	0	APOB	21104368	0.262000	0.24073	1.000000	0.80357	0.696000	0.40369	0.273000	0.18662	1.627000	0.50400	0.655000	0.94253	CGG		0.363	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			119	437	0	0	0	1	0	119	437				
ACTL7A	10881	broad.mit.edu	37	9	111625720	111625720	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:111625720G>A	ENST00000333999.3	+	1	1118	c.1118G>A	c.(1117-1119)cGt>cAt	p.R373H		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	373						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|motile cilium (GO:0031514)|nucleus (GO:0005634)|protein complex (GO:0043234)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTCCCTAACCGTCTGCAGAAG	0.587																																					Esophageal Squamous(177;1480 3591 17554)	ENST00000333999.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1117-1119)cGt>cAt		actin-like 7A							116.0	93.0	100.0					9																	111625720		2203	4300	6503	SO:0001583	missense	10881					cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton	g.chr9:111625720G>A	BC014610	CCDS6772.1	9q31	2008-02-05			ENSG00000187003	ENSG00000187003			161	protein-coding gene	gene with protein product		604303				10373328	Standard	NM_006687		Approved		uc004bdj.1	Q9Y615	OTTHUMG00000020461	ENST00000333999.3:c.1118G>A	9.37:g.111625720G>A	ENSP00000334300:p.Arg373His						p.R373H	NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN			1	1118	+			373					B2RC83|Q5JSV0	Missense_Mutation	SNP	ENST00000333999.3	37	c.1118G>A	CCDS6772.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120894	0.77436	.	.	ENSG00000187003	ENST00000333999	D	0.99353	-5.77	5.44	4.48	0.54585	.	0.000000	0.47093	D	0.000241	D	0.99554	0.9840	H	0.95328	3.655	0.47819	D	0.999521	D	0.89917	1.0	D	0.97110	1.0	D	0.97847	1.0272	10	0.87932	D	0	.	13.7185	0.62712	0.0:0.1556:0.8444:0.0	.	373	Q9Y615	ACL7A_HUMAN	H	373	ENSP00000334300:R373H	ENSP00000334300:R373H	R	+	2	0	ACTL7A	110665541	1.000000	0.71417	0.982000	0.44146	0.840000	0.47671	6.690000	0.74567	2.715000	0.92844	0.655000	0.94253	CGT		0.587	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053570.1	NM_006687		130	174	0	0	0	1	0	130	174				
BRINP1	1620	broad.mit.edu	37	9	121930086	121930086	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:121930086C>T	ENST00000265922.3	-	8	2023	c.1562G>A	c.(1561-1563)cGc>cAc	p.R521H	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	521					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											CATGCGCTTGCGCCACCGAGG	0.562																																						ENST00000265922.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1561-1563)cGc>cAc									171.0	127.0	142.0					9																	121930086		2203	4300	6503	SO:0001583	missense	0				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121930086C>T	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1562G>A	9.37:g.121930086C>T	ENSP00000265922:p.Arg521His					DBC1_ENST00000482797.1_Intron	p.R521H	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN			8	2023	-			521					Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.1562G>A	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684791	0.88639	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.20463	2.07	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.46464	0.1394	M	0.61703	1.905	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.35450	-0.9788	10	0.87932	D	0	-23.0972	19.91	0.97023	0.0:1.0:0.0:0.0	.	521	O60477	DBC1_HUMAN	H	521	ENSP00000265922:R521H	ENSP00000265922:R521H	R	-	2	0	DBC1	120969907	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.743000	0.85020	2.702000	0.92279	0.655000	0.94253	CGC		0.562	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		5	184	0	0	0	1	0	5	184				
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:65222986G>T	ENST00000442266.1	+	0	578				SNORA15_ENST00000384058.1_RNA|SNORA22_ENST00000383907.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		GAATTCTGGCGTTTTTTACAA	0.289																																						ENST00000442266.1																			0																																																			0							g.chr7:65222986G>T	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65222986G>T														0	578	+									RNA	SNP	ENST00000442266.1	37																																																																																						0.289	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		5	119	1	0	0.000157383	1	0.000162166	5	119				
PAX8	7849	broad.mit.edu	37	2	114002064	114002064	+	Missense_Mutation	SNP	C	C	T	rs376820853		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:114002064C>T	ENST00000429538.3	-	4	523	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	PAX8_ENST00000263335.7_Missense_Mutation_p.R110Q|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000445745.1_RNA|PAX8_ENST00000348715.5_Missense_Mutation_p.R110Q|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000422956.2_RNA|AC016683.6_ENST00000451179.1_RNA|PAX8_ENST00000397647.3_Missense_Mutation_p.R110Q|PAX8_ENST00000263334.5_Missense_Mutation_p.R110Q|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000333145.5_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	110	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						AGCCAGGAGCCGGTCTCGGAT	0.597			T	PPARG	follicular thyroid		Thyroid dysgenesis																														Ovarian(188;7 2067 9084 29802 29892)	ENST00000429538.3				Dom	yes		2	2q12-q14	7849	T	paired box gene 8	yes	Thyroid dysgenesis	E	PPARG		follicular thyroid	PAX8/PPARG(117)	0				breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						c.(328-330)cGg>cAg		paired box 8		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4396		0,0,2198	152.0	170.0	164.0		329,329,329,329	5.3	1.0	2		164	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense	PAX8	NM_003466.3,NM_013952.3,NM_013953.3,NM_013992.3	43,43,43,43	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	110/451,110/399,110/322,110/288	114002064	1,12993	2198	4299	6497	SO:0001583	missense	7849				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity	g.chr2:114002064C>T	X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"""Paired boxes"", ""Homeoboxes / PRD class"""	8622	protein-coding gene	gene with protein product		167415	"""paired box gene 8"""			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.329G>A	2.37:g.114002064C>T	ENSP00000395498:p.Arg110Gln					AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000553869.2_RNA|PAX8_ENST00000397647.3_Missense_Mutation_p.R110Q|AC016683.6_ENST00000422956.1_RNA|PAX8_ENST00000348715.5_Missense_Mutation_p.R110Q|PAX8_ENST00000263335.7_Missense_Mutation_p.R110Q|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000436293.2_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.R110Q|AC016683.6_ENST00000333145.5_RNA	p.R110Q	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN			4	523	-			110			Paired.		Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Missense_Mutation	SNP	ENST00000429538.3	37	c.329G>A	CCDS46398.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022484	0.93462	0.0	1.16E-4	ENSG00000125618	ENST00000263335;ENST00000397647;ENST00000348715;ENST00000429538;ENST00000263334	D;D;D;D;D	0.99466	-5.95;-5.95;-5.95;-5.95;-5.95	5.32	5.32	0.75619	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99293	0.9753	L	0.55743	1.74	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;1.0;0.998;0.974	P;D;D;P;P	0.77557	0.62;0.969;0.99;0.75;0.536	D	0.99334	1.0910	10	0.72032	D	0.01	.	16.4863	0.84184	0.0:1.0:0.0:0.0	.	110;110;110;110;110	Q06710-2;Q06710-3;Q06710;Q06710-5;Q06710-4	.;.;PAX8_HUMAN;.;.	Q	110	ENSP00000263335:R110Q;ENSP00000380768:R110Q;ENSP00000314750:R110Q;ENSP00000395498:R110Q;ENSP00000263334:R110Q	ENSP00000263334:R110Q	R	-	2	0	PAX8	113718534	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	6.089000	0.71384	2.502000	0.84385	0.655000	0.94253	CGG		0.597	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5			11	1010	0	0	0	1	0	11	1010				
SRRM2	23524	broad.mit.edu	37	16	2816009	2816009	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr16:2816009G>A	ENST00000301740.8	+	11	6029	c.5480G>A	c.(5479-5481)cGg>cAg	p.R1827Q		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1827	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCACCTGCCCGGCAGGAAAGT	0.652																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(5479-5481)cGg>cAg		serine/arginine repetitive matrix 2							38.0	43.0	42.0					16																	2816009		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2816009G>A	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5480G>A	16.37:g.2816009G>A	ENSP00000301740:p.Arg1827Gln						p.R1827Q	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	6029	+			1827			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.5480G>A	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.134248	0.37630	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.28666	1.6	5.46	5.46	0.80206	.	0.000000	0.56097	D	0.000037	T	0.34077	0.0885	N	0.08118	0	0.29814	N	0.831367	D	0.69078	0.997	D	0.70227	0.968	T	0.28299	-1.0048	10	0.40728	T	0.16	-8.8333	14.803	0.69929	0.0:0.0:1.0:0.0	.	1827	Q9UQ35	SRRM2_HUMAN	Q	1827;1827;1079	ENSP00000301740:R1827Q	ENSP00000301740:R1827Q	R	+	2	0	SRRM2	2756010	0.891000	0.30450	0.998000	0.56505	0.994000	0.84299	5.510000	0.67018	2.562000	0.86427	0.650000	0.86243	CGG		0.652	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			5	174	0	0	0	1	0	5	174				
BMP5	653	broad.mit.edu	37	6	55739269	55739269	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr6:55739269G>A	ENST00000370830.3	-	1	1093	c.395C>T	c.(394-396)aCg>aTg	p.T132M	BMP5_ENST00000446683.2_Missense_Mutation_p.T132M	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	132					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CAGAGGAGTCGTCCGAGATAA	0.512																																						ENST00000370830.3																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45						c.(394-396)aCg>aTg		bone morphogenetic protein 5							134.0	116.0	122.0					6																	55739269		2203	4300	6503	SO:0001583	missense	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55739269G>A		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.395C>T	6.37:g.55739269G>A	ENSP00000359866:p.Thr132Met					BMP5_ENST00000446683.2_Missense_Mutation_p.T132M	p.T132M	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		1	1093	-	Lung NSC(77;0.0462)		132					B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	c.395C>T	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	G	9.216	1.032070	0.19590	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.72167	-0.63;-0.25	5.96	5.08	0.68730	Transforming growth factor-beta, N-terminal (1);	0.472446	0.23635	N	0.046097	T	0.27169	0.0666	N	0.08118	0	0.25731	N	0.985266	B;B	0.10296	0.003;0.003	B;B	0.08055	0.003;0.002	T	0.06303	-1.0834	10	0.46703	T	0.11	.	5.7313	0.18040	0.0779:0.1441:0.638:0.14	.	132;132	B4E0Y4;P22003	.;BMP5_HUMAN	M	132	ENSP00000359866:T132M;ENSP00000391818:T132M	ENSP00000359866:T132M	T	-	2	0	BMP5	55847228	1.000000	0.71417	0.309000	0.25155	0.990000	0.78478	4.895000	0.63214	1.491000	0.48482	0.650000	0.86243	ACG		0.512	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			18	261	0	0	0	1	0	18	261				
USP28	57646	broad.mit.edu	37	11	113711433	113711433	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr11:113711433G>A	ENST00000003302.4	-	5	489	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	USP28_ENST00000542033.1_5'UTR|USP28_ENST00000537706.1_Missense_Mutation_p.R141C|USP28_ENST00000545540.1_Missense_Mutation_p.R16C|USP28_ENST00000260188.5_Missense_Mutation_p.R141C	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	141					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ACTTCACAGCGTTTTCTCTTT	0.423																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(421-423)Cgc>Tgc		ubiquitin specific peptidase 28							121.0	103.0	109.0					11																	113711433		2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113711433G>A	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.421C>T	11.37:g.113711433G>A	ENSP00000003302:p.Arg141Cys					USP28_ENST00000545540.1_Missense_Mutation_p.R16C|USP28_ENST00000260188.5_Missense_Mutation_p.R141C|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000537706.1_Missense_Mutation_p.R141C	p.R141C	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	5	489	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	141					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.421C>T	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193599	0.78902	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000545540;ENST00000537706;ENST00000537642	T;T;T;T	0.35973	1.28;1.29;1.31;1.66	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.60248	0.2254	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.78314	0.973;0.991;0.962;0.943	T	0.59643	-0.7416	10	0.62326	D	0.03	-14.2635	19.5331	0.95237	0.0:0.0:1.0:0.0	.	141;16;141;141	B4E2Q2;B4E3L3;Q6NZX9;Q96RU2	.;.;.;UBP28_HUMAN	C	141;141;16;141;69	ENSP00000003302:R141C;ENSP00000260188:R141C;ENSP00000444991:R16C;ENSP00000445743:R141C	ENSP00000003302:R141C	R	-	1	0	USP28	113216643	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.278000	0.65592	2.701000	0.92244	0.585000	0.79938	CGC		0.423	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			6	281	0	0	0	1	0	6	281				
DHX15	1665	broad.mit.edu	37	4	24543566	24543566	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr4:24543566C>T	ENST00000336812.4	-	8	1571	c.1415G>A	c.(1414-1416)cGa>cAa	p.R472Q	DHX15_ENST00000508032.1_5'Flank	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	472	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				ACGTCCAGCTCGACCAGCCCT	0.433																																						ENST00000336812.4																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(1414-1416)cGa>cAa		DEAH (Asp-Glu-Ala-His) box helicase 15							115.0	113.0	114.0					4																	24543566		2203	4300	6503	SO:0001583	missense	1665				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr4:24543566C>T	AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"""DEAH-boxes"""	2738	protein-coding gene	gene with protein product		603403	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 15"""	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.1415G>A	4.37:g.24543566C>T	ENSP00000336741:p.Arg472Gln						p.R472Q	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN			8	1571	-		Breast(46;0.0503)	472			Helicase C-terminal.		Q9NQT7	Missense_Mutation	SNP	ENST00000336812.4	37	c.1415G>A	CCDS33966.1	.	.	.	.	.	.	.	.	.	.	C	36	5.953147	0.97139	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	D	0.99143	-5.48	6.16	6.16	0.99307	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99764	0.9904	H	0.99916	4.945	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96831	0.9611	10	0.87932	D	0	-6.4582	20.8598	0.99761	0.0:1.0:0.0:0.0	.	472	O43143	DHX15_HUMAN	Q	472;461	ENSP00000336741:R472Q	ENSP00000336741:R472Q	R	-	2	0	DHX15	24152664	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.775000	0.68915	2.937000	0.99478	0.650000	0.86243	CGA		0.433	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	NM_001358		6	411	0	0	0	1	0	6	411				
HOXD3	3232	broad.mit.edu	37	2	177036748	177036748	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:177036748G>A	ENST00000468418.3	+	4	3135	c.1045G>A	c.(1045-1047)Gcc>Acc	p.A349T	HOXD-AS1_ENST00000416928.2_RNA|HOXD3_ENST00000410016.1_Missense_Mutation_p.A349T|HOXD3_ENST00000249440.3_Missense_Mutation_p.A349T			P31249	HXD3_HUMAN	homeobox D3	349					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CTTCGCCAGCGCCAACTTGCA	0.697																																						ENST00000468418.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23						c.(1045-1047)Gcc>Acc		homeobox D3							10.0	13.0	12.0					2																	177036748		2173	4277	6450	SO:0001583	missense	3232				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177036748G>A		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"""Homeoboxes / ANTP class : HOXL subclass"""	5137	protein-coding gene	gene with protein product		142980	"""homeo box D3"""	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.1045G>A	2.37:g.177036748G>A	ENSP00000424734:p.Ala349Thr					HOXD3_ENST00000249440.3_Missense_Mutation_p.A349T|HOXD3_ENST00000410016.1_Missense_Mutation_p.A349T	p.A349T			P31249	HXD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)	4	3135	+			349					Q99955|Q9BSC5	Missense_Mutation	SNP	ENST00000468418.3	37	c.1045G>A	CCDS2270.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650690	0.67472	.	.	ENSG00000128652	ENST00000468418;ENST00000410016;ENST00000249440	D;D;D	0.88664	-2.41;-2.41;-2.41	5.65	4.76	0.60689	.	0.101787	0.64402	D	0.000002	T	0.81123	0.4757	L	0.36672	1.1	0.44079	D	0.99683	P	0.51653	0.947	B	0.32724	0.151	T	0.81701	-0.0813	10	0.44086	T	0.13	.	15.0613	0.71955	0.0:0.435:0.565:0.0	.	349	P31249	HXD3_HUMAN	T	349	ENSP00000424734:A349T;ENSP00000386498:A349T;ENSP00000249440:A349T	ENSP00000249440:A349T	A	+	1	0	HOXD3	176744994	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.927000	0.70080	1.367000	0.46095	0.491000	0.48974	GCC		0.697	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			19	49	0	0	0	1	0	19	49				
SBSN	374897	broad.mit.edu	37	19	36019170	36019170	+	Missense_Mutation	SNP	C	C	T	rs138249808		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:36019170C>T	ENST00000452271.2	-	1	42	c.14G>A	c.(13-15)cGt>cAt	p.R5H	SBSN_ENST00000518157.1_Missense_Mutation_p.R5H	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	5						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCCGACCAGACGTGCAAGATG	0.587																																						ENST00000452271.2																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14						c.(13-15)cGt>cAt		suprabasin		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	36.0	33.0	34.0		14,14,14	-6.9	0.0	19	dbSNP_134	34	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SBSN	NM_001166034.1,NM_001166035.1,NM_198538.3	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	5/591,5/170,5/248	36019170	1,13005	2203	4300	6503	SO:0001583	missense	374897					extracellular region		g.chr19:36019170C>T	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.14G>A	19.37:g.36019170C>T	ENSP00000430242:p.Arg5His					SBSN_ENST00000518157.1_Missense_Mutation_p.R5H	p.R5H	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	42	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		5					A8K5J0|E9PBV3	Missense_Mutation	SNP	ENST00000452271.2	37	c.14G>A	CCDS54253.1	.	.	.	.	.	.	.	.	.	.	C	1.832	-0.469512	0.04445	0.0	1.16E-4	ENSG00000189001	ENST00000452271;ENST00000518157	T;T	0.44881	0.91;0.92	4.38	-6.86	0.01676	.	2.111040	0.02268	N	0.068156	T	0.19485	0.0468	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.11542	-1.0583	10	0.44086	T	0.13	.	3.5922	0.07993	0.1062:0.3275:0.3855:0.1809	.	5;5	Q6UWP8;E9PBV3	SBSN_HUMAN;.	H	5	ENSP00000430242:R5H;ENSP00000428771:R5H	ENSP00000430242:R5H	R	-	2	0	SBSN	40711010	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.866000	0.04245	-1.707000	0.01402	-1.164000	0.01763	CGT		0.587	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		5	125	0	0	0	1	0	5	125				
CDH9	1007	broad.mit.edu	37	5	26881445	26881445	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:26881445C>T	ENST00000231021.4	-	12	2342	c.2170G>A	c.(2170-2172)Gac>Aac	p.D724N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	724					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GGGTCTGCGTCGTTTTCTTTT	0.418																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(2170-2172)Gac>Aac		cadherin 9, type 2 (T1-cadherin)							154.0	146.0	149.0					5																	26881445		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26881445C>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.2170G>A	5.37:g.26881445C>T	ENSP00000231021:p.Asp724Asn						p.D724N	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			12	2342	-			724					Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.2170G>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065780	0.76187	.	.	ENSG00000113100	ENST00000231021	T	0.80653	-1.4	5.06	5.06	0.68205	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.86364	0.5915	M	0.80616	2.505	0.58432	D	0.999995	P;D	0.55800	0.938;0.973	P;P	0.51297	0.665;0.665	D	0.87474	0.2416	9	.	.	.	.	17.3627	0.87355	0.0:1.0:0.0:0.0	.	317;724	B4DFP0;Q9ULB4	.;CADH9_HUMAN	N	724	ENSP00000231021:D724N	.	D	-	1	0	CDH9	26917202	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	7.750000	0.85110	2.504000	0.84457	0.557000	0.71058	GAC		0.418	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		27	458	0	0	0	1	0	27	458				
IQGAP1	8826	broad.mit.edu	37	15	90997745	90997745	+	Missense_Mutation	SNP	G	G	A	rs147346534	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr15:90997745G>A	ENST00000268182.5	+	14	1697	c.1573G>A	c.(1573-1575)Gtg>Atg	p.V525M	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	525					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CCAAGCTTGCGTGGACCATGT	0.453													G|||	3	0.000599042	0.0	0.0	5008	,	,		19354	0.0		0.003	False		,,,				2504	0.0					ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1573-1575)Gtg>Atg		IQ motif containing GTPase activating protein 1		G	MET/VAL	0,4396		0,0,2198	223.0	192.0	202.0		1573	4.1	1.0	15	dbSNP_134	202	3,8593	3.0+/-9.4	0,3,4295	yes	missense	IQGAP1	NM_003870.3	21	0,3,6493	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	525/1658	90997745	3,12989	2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:90997745G>A	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.1573G>A	15.37:g.90997745G>A	ENSP00000268182:p.Val525Met					IQGAP1_ENST00000560738.1_Intron	p.V525M	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		14	1697	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		525					A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.1573G>A	CCDS10362.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	16.70	3.196515	0.58126	0.0	3.49E-4	ENSG00000140575	ENST00000268182	T	0.12569	2.67	5.08	4.12	0.48240	.	0.238231	0.33534	N	0.004814	T	0.25158	0.0611	M	0.80183	2.485	0.80722	D	1	P	0.35363	0.497	B	0.40534	0.332	T	0.09422	-1.0675	10	0.87932	D	0	-16.7616	14.8568	0.70344	0.0:0.1434:0.8566:0.0	.	525	P46940	IQGA1_HUMAN	M	525	ENSP00000268182:V525M	ENSP00000268182:V525M	V	+	1	0	IQGAP1	88798749	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.326000	0.52037	2.655000	0.90218	0.650000	0.86243	GTG		0.453	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		6	382	0	0	0	1	0	6	382				
ABTB2	25841	broad.mit.edu	37	11	34218997	34218997	+	Silent	SNP	C	C	T	rs374255572	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr11:34218997C>T	ENST00000435224.2	-	3	1543	c.1119G>A	c.(1117-1119)ccG>ccA	p.P373P	ABTB2_ENST00000530814.1_5'UTR|ABTB2_ENST00000298992.2_Silent_p.P187P	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	373					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TGGGCTGTGGCGGCTGGCGGG	0.687													C|||	2	0.000399361	0.0	0.0	5008	,	,		13187	0.0		0.0	False		,,,				2504	0.002					ENST00000435224.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1117-1119)ccG>ccA		ankyrin repeat and BTB (POZ) domain containing 2		C		0,4404		0,0,2202	28.0	28.0	28.0		1119	-7.2	0.3	11		28	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	ABTB2	NM_145804.2		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		373/1026	34218997	1,12997	2202	4297	6499	SO:0001819	synonymous_variant	25841						DNA binding	g.chr11:34218997C>T	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.1119G>A	11.37:g.34218997C>T						ABTB2_ENST00000298992.2_Silent_p.P187P|ABTB2_ENST00000530814.1_5'UTR	p.P373P	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN			3	1543	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	187					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Silent	SNP	ENST00000435224.2	37	c.1119G>A	CCDS7890.2																																																																																				0.687	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		4	122	0	0	0	1	0	4	122				
FOLH1B	219595	broad.mit.edu	37	11	89395322	89395322	+	RNA	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr11:89395322C>T	ENST00000532352.1	+	0	720							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTCAGAATACGCTTATAGGC	0.343																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89395322C>T	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89395322C>T										Q9HBA9	FOH1B_HUMAN			0	720	+									RNA	SNP	ENST00000532352.1	37																																																																																						0.343	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		4	101	0	0	0	1	0	4	101				
KSR1	8844	broad.mit.edu	37	17	25783764	25783764	+	Missense_Mutation	SNP	C	C	T	rs79564666	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr17:25783764C>T	ENST00000319524.6	+	1	95	c.95C>T	c.(94-96)gCc>gTc	p.A32V	KSR1_ENST00000509603.2_Missense_Mutation_p.A32V			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	32					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GGCGCAGGGGCCGCGGCCAGC	0.736																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000319524.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(94-96)gCc>gTc		kinase suppressor of ras 1							10.0	11.0	11.0					17																	25783764		870	1980	2850	SO:0001583	missense	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25783764C>T	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.95C>T	17.37:g.25783764C>T	ENSP00000323178:p.Ala32Val					KSR1_ENST00000509603.2_Missense_Mutation_p.A32V	p.A32V			Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	1	95	+	Lung NSC(42;0.00836)		30					F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	ENST00000319524.6	37	c.95C>T		495	0.22664835164835165	112	0.22764227642276422	66	0.18232044198895028	124	0.21678321678321677	193	0.2546174142480211	C	24.8	4.574503	0.86542	.	.	ENSG00000141068	ENST00000319524;ENST00000509603	T;T	0.80480	-1.38;-1.38	4.58	2.36	0.29203	.	0.157459	0.40728	N	0.001036	T	0.00039	0.0001	.	.	.	0.09310	P	0.9999999999940314	.	.	.	.	.	.	T	0.01869	-1.1257	6	0.30078	T	0.28	.	9.6283	0.39763	0.1593:0.6865:0.1542:0.0	.	.	.	.	V	32	ENSP00000323178:A32V;ENSP00000438795:A32V	ENSP00000323178:A32V	A	+	2	0	KSR1	22807891	0.945000	0.32115	1.000000	0.80357	0.961000	0.63080	0.486000	0.22340	1.023000	0.39654	0.462000	0.41574	GCC		0.736	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		7	51	0	0	0	1	0	7	51				
CSMD2	114784	broad.mit.edu	37	1	34286094	34286094	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:34286094C>T	ENST00000373381.4	-	8	1351	c.1175G>A	c.(1174-1176)gGc>gAc	p.G392D		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	352	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G352D(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TAGTCTTTTGCCCCTTTCGGG	0.463																																						ENST00000373381.4																			1	Substitution - Missense(1)	p.G352D(1)	lung(1)	NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(1174-1176)gGc>gAc		CUB and Sushi multiple domains 2							191.0	188.0	189.0					1																	34286094		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34286094C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.1175G>A	1.37:g.34286094C>T	ENSP00000362479:p.Gly392Asp						p.G392D	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			8	1351	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	352			Sushi 2.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.1175G>A		.	.	.	.	.	.	.	.	.	.	C	29.3	4.994802	0.93167	.	.	ENSG00000121904	ENST00000373381	T	0.70164	-0.46	5.66	5.66	0.87406	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.90369	0.6986	H	0.99859	4.855	0.80722	D	1	D;P	0.57571	0.98;0.661	P;B	0.62740	0.906;0.375	D	0.94637	0.7827	10	0.87932	D	0	.	18.7321	0.91739	0.0:1.0:0.0:0.0	.	352;392	Q7Z408;E7EUA6	CSMD2_HUMAN;.	D	392	ENSP00000362479:G392D	ENSP00000241312:G352D	G	-	2	0	CSMD2	34058681	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.796000	0.85898	2.669000	0.90835	0.655000	0.94253	GGC		0.463	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		7	721	0	0	0	1	0	7	721				
GIMAP8	155038	broad.mit.edu	37	7	150164276	150164276	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:150164276C>T	ENST00000307271.3	+	2	1064	c.490C>T	c.(490-492)Cga>Tga	p.R164*		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	164	AIG1-type G 1.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CTATGAGGGCCGATACTGCAT	0.443																																						ENST00000307271.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62						c.(490-492)Cga>Tga		GTPase, IMAP family member 8							122.0	115.0	117.0					7																	150164276		2203	4300	6503	SO:0001587	stop_gained	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150164276C>T	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.490C>T	7.37:g.150164276C>T	ENSP00000305107:p.Arg164*						p.R164*	NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	2	1064	+			164						Nonsense_Mutation	SNP	ENST00000307271.3	37	c.490C>T	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	C	38	7.151425	0.98099	.	.	ENSG00000171115	ENST00000307271	.	.	.	4.38	1.34	0.21922	.	0.411941	0.17950	N	0.156556	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.0174	0.24895	0.348:0.4831:0.1689:0.0	.	.	.	.	X	164	.	ENSP00000305107:R164X	R	+	1	2	GIMAP8	149795209	0.001000	0.12720	0.007000	0.13788	0.032000	0.12392	-0.137000	0.10389	0.484000	0.27630	-0.238000	0.12139	CGA		0.443	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		6	712	0	0	0	1	0	6	712				
DHX37	57647	broad.mit.edu	37	12	125435335	125435335	+	Missense_Mutation	SNP	C	C	T	rs140554912		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr12:125435335C>T	ENST00000308736.2	-	22	2982	c.2884G>A	c.(2884-2886)Gac>Aac	p.D962N	DHX37_ENST00000544745.1_Missense_Mutation_p.D749N	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	962							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AAGACAGGGTCGTCGAGGAGA	0.532																																						ENST00000308736.2																			0				breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(2884-2886)Gac>Aac		DEAH (Asp-Glu-Ala-His) box polypeptide 37		C	ASN/ASP	0,4406		0,0,2203	89.0	103.0	98.0		2884	5.3	1.0	12	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	no	missense	DHX37	NM_032656.3	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	962/1158	125435335	1,13005	2203	4300	6503	SO:0001583	missense	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125435335C>T	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.2884G>A	12.37:g.125435335C>T	ENSP00000311135:p.Asp962Asn					DHX37_ENST00000544745.1_Missense_Mutation_p.D749N	p.D962N	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	22	2982	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		962					Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	c.2884G>A	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783376	0.70222	0.0	1.16E-4	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.03181	4.1;4.02	5.26	5.26	0.73747	Domain of unknown function DUF1605 (1);	0.137763	0.64402	D	0.000005	T	0.04363	0.0120	L	0.41027	1.25	0.80722	D	1	B;P	0.40602	0.178;0.723	B;B	0.30401	0.029;0.115	T	0.51545	-0.8692	10	0.40728	T	0.16	-20.2821	18.8723	0.92320	0.0:1.0:0.0:0.0	.	749;962	F5H3Y4;Q8IY37	.;DHX37_HUMAN	N	962;749	ENSP00000311135:D962N;ENSP00000439009:D749N	ENSP00000311135:D962N	D	-	1	0	DHX37	124001288	1.000000	0.71417	0.967000	0.41034	0.761000	0.43186	7.448000	0.80631	2.467000	0.83353	0.561000	0.74099	GAC		0.532	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		47	213	0	0	0	1	0	47	213				
DMKN	93099	broad.mit.edu	37	19	36000839	36000839	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:36000839G>A	ENST00000339686.3	-	7	1188	c.1012C>T	c.(1012-1014)Cgc>Tgc	p.R338C	DMKN_ENST00000462126.1_Intron|DMKN_ENST00000414866.2_Missense_Mutation_p.R51C|DMKN_ENST00000474928.1_5'UTR|DMKN_ENST00000392206.2_Missense_Mutation_p.R51C|DMKN_ENST00000418261.1_Missense_Mutation_p.R338C|DMKN_ENST00000436012.1_Intron|DMKN_ENST00000488892.1_Intron|DMKN_ENST00000602781.1_Missense_Mutation_p.R51C|DMKN_ENST00000447113.2_Missense_Mutation_p.R338C|DMKN_ENST00000402589.2_Missense_Mutation_p.R51C|DMKN_ENST00000461300.1_Intron|DMKN_ENST00000440396.1_Missense_Mutation_p.R338C|DMKN_ENST00000419602.1_Missense_Mutation_p.R277C|DMKN_ENST00000472252.2_Intron|DMKN_ENST00000443640.1_Missense_Mutation_p.R51C|DMKN_ENST00000451297.2_Intron|DMKN_ENST00000480502.1_Missense_Mutation_p.R51C|DMKN_ENST00000429837.1_Missense_Mutation_p.R277C|DMKN_ENST00000458071.1_Missense_Mutation_p.R51C|DMKN_ENST00000467637.1_Missense_Mutation_p.R51C|DMKN_ENST00000424570.2_Missense_Mutation_p.R338C|DMKN_ENST00000492341.2_Intron	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	338	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCGCTCCCGCGGGCTTCATTC	0.582											OREG0025431	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339686.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27						c.(1012-1014)Cgc>Tgc		dermokine							69.0	74.0	72.0					19																	36000839		2203	4300	6503	SO:0001583	missense	93099					extracellular region		g.chr19:36000839G>A	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.1012C>T	19.37:g.36000839G>A	ENSP00000342012:p.Arg338Cys		OREG0025431	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	859	DMKN_ENST00000424570.2_Missense_Mutation_p.R338C|DMKN_ENST00000440396.1_Missense_Mutation_p.R338C|DMKN_ENST00000467637.1_Missense_Mutation_p.R51C|DMKN_ENST00000461300.1_Intron|DMKN_ENST00000392206.2_Missense_Mutation_p.R51C|DMKN_ENST00000447113.2_Missense_Mutation_p.R338C|DMKN_ENST00000480502.1_Missense_Mutation_p.R51C|DMKN_ENST00000419602.1_Missense_Mutation_p.R277C|DMKN_ENST00000414866.2_Missense_Mutation_p.R51C|DMKN_ENST00000458071.1_Missense_Mutation_p.R51C|DMKN_ENST00000472252.2_Intron|DMKN_ENST00000436012.1_Intron|DMKN_ENST00000451297.2_Intron|DMKN_ENST00000492341.2_Intron|DMKN_ENST00000474928.1_5'UTR|DMKN_ENST00000488892.1_Intron|DMKN_ENST00000429837.1_Missense_Mutation_p.R277C|DMKN_ENST00000443640.1_Missense_Mutation_p.R51C|DMKN_ENST00000462126.1_Intron|DMKN_ENST00000402589.2_Missense_Mutation_p.R51C|DMKN_ENST00000418261.1_Missense_Mutation_p.R338C|DMKN_ENST00000602781.1_Missense_Mutation_p.R51C	p.R338C	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		7	1188	-	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		338			Gly-rich.		A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	c.1012C>T	CCDS12463.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.71|12.71	2.020121|2.020121	0.35606|0.35606	.|.	.|.	ENSG00000161249|ENSG00000161249	ENST00000434389|ENST00000402589;ENST00000339686;ENST00000392207;ENST00000414866;ENST00000429837;ENST00000419602;ENST00000443640;ENST00000447113;ENST00000392206;ENST00000440396;ENST00000458071;ENST00000418261;ENST00000424570;ENST00000450261	.|T;T;T;T;T;T;T;T;T;T;T	.|0.46063	.|1.45;2.6;1.45;2.33;2.38;0.88;1.61;1.45;1.98;1.45;1.82	3.85|3.85	2.81|2.81	0.32909|0.32909	.|.	.|0.376653	.|0.19676	.|N	.|0.108623	T|T	0.54159|0.54159	0.1841|0.1841	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	0.999999|0.999999	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;0.998	.|D;D;D;D;D;P;P	.|0.91635	.|0.999;0.96;0.995;0.985;0.985;0.872;0.738	T|T	0.34403|0.34403	-0.9830|-0.9830	5|10	.|0.87932	.|D	.|0	-13.1464|-13.1464	7.3497|7.3497	0.26684|0.26684	0.1191:0.0:0.8809:0.0|0.1191:0.0:0.8809:0.0	.|.	.|338;338;338;277;277;338;51	.|E7EUS0;Q6E0U4-3;Q6E0U4-5;C9J4P6;Q6E0U4-4;Q6E0U4;Q6E0U4-8	.|.;.;.;.;.;DMKN_HUMAN;.	L|C	18|51;338;338;51;277;277;51;338;51;338;51;338;338;51	.|ENSP00000384509:R51C;ENSP00000342012:R338C;ENSP00000392222:R51C;ENSP00000405503:R277C;ENSP00000391036:R277C;ENSP00000406864:R51C;ENSP00000394908:R338C;ENSP00000376042:R51C;ENSP00000415277:R338C;ENSP00000414743:R338C;ENSP00000388404:R338C	.|ENSP00000342012:R338C	P|R	-|-	2|1	0|0	DMKN|DMKN	40692679|40692679	0.110000|0.110000	0.22057|0.22057	0.015000|0.015000	0.15790|0.15790	0.014000|0.014000	0.08584|0.08584	3.538000|3.538000	0.53597|0.53597	1.219000|1.219000	0.43474|0.43474	0.491000|0.491000	0.48974|0.48974	CCG|CGC		0.582	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		5	321	0	0	0	1	0	5	321				
VN1R4	317703	broad.mit.edu	37	19	53770069	53770069	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:53770069C>T	ENST00000311170.4	-	1	903	c.850G>A	c.(850-852)Gtt>Att	p.V284I	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	284					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		CTCATGAGAACAAAGGGGCTG	0.393										HNSCC(26;0.072)																												ENST00000311170.4																			0				central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22						c.(850-852)Gtt>Att		vomeronasal 1 receptor 4							80.0	74.0	76.0					19																	53770069		2203	4300	6503	SO:0001583	missense	317703				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53770069C>T	AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.850G>A	19.37:g.53770069C>T	ENSP00000310856:p.Val284Ile	HNSCC(26;0.072)					p.V284I	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN		GBM - Glioblastoma multiforme(134;0.00294)	1	903	-			284					Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Missense_Mutation	SNP	ENST00000311170.4	37	c.850G>A	CCDS33099.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.687381	0.00738	.	.	ENSG00000228567	ENST00000311170	T	0.25749	1.78	2.43	-4.86	0.03132	GPCR, rhodopsin-like superfamily (1);	1.285450	0.06047	N	0.655860	T	0.21062	0.0507	L	0.37850	1.14	0.09310	N	1	P	0.40515	0.719	B	0.43478	0.421	T	0.15578	-1.0432	10	0.13470	T	0.59	.	9.7018	0.40192	0.0:0.4964:0.3796:0.124	.	284	Q7Z5H5	VN1R4_HUMAN	I	284	ENSP00000310856:V284I	ENSP00000310856:V284I	V	-	1	0	VN1R4	58461881	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-6.542000	0.00062	-3.401000	0.00171	-0.522000	0.04353	GTT		0.393	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857		5	294	0	0	0	1	0	5	294				
ARHGAP32	9743	broad.mit.edu	37	11	128842373	128842373	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr11:128842373T>C	ENST00000310343.9	-	21	3985	c.3986A>G	c.(3985-3987)aAt>aGt	p.N1329S	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.N980S|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.N980S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1329					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TAATCCTATATTGGTTGCTGC	0.478																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(3985-3987)aAt>aGt		Rho GTPase activating protein 32							119.0	121.0	121.0					11																	128842373		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128842373T>C	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.3986A>G	11.37:g.128842373T>C	ENSP00000310561:p.Asn1329Ser					ARHGAP32_ENST00000392657.3_Missense_Mutation_p.N980S|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.N980S	p.N1329S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			21	3985	-			1329					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.3986A>G	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	T	0.115	-1.132890	0.01756	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.07114	3.22;3.22;3.22	5.65	-0.831	0.10789	.	1.086930	0.06798	N	0.788252	T	0.02119	0.0066	N	0.00801	-1.175	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43556	-0.9384	10	0.06365	T	0.9	.	5.8787	0.18844	0.0:0.343:0.2835:0.3735	.	1329	A7KAX9	RHG32_HUMAN	S	1329;980;980	ENSP00000310561:N1329S;ENSP00000376425:N980S;ENSP00000432862:N980S	ENSP00000310561:N1329S	N	-	2	0	ARHGAP32	128347583	0.000000	0.05858	0.000000	0.03702	0.903000	0.53119	-0.905000	0.04075	-0.439000	0.07222	-0.899000	0.02877	AAT		0.478	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		31	419	0	0	0	1	0	31	419				
CYP2E1	1571	broad.mit.edu	37	10	135345639	135345639	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr10:135345639G>A	ENST00000463117.2	+	6	771	c.499G>A	c.(499-501)Gac>Aac	p.D167N	CYP2E1_ENST00000252945.3_Missense_Mutation_p.D167N|AL161645.2_ENST00000599428.1_5'Flank|CYP2E1_ENST00000480558.1_3'UTR|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	167					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CCAGCCTTTCGACCCCACCTT	0.552									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													ENST00000463117.2																			0				NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(499-501)Gac>Aac		cytochrome P450, family 2, subfamily E, polypeptide 1	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)						121.0	107.0	112.0					10																	135345639		2203	4300	6503	SO:0001583	missense	1571	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding	g.chr10:135345639G>A	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.499G>A	10.37:g.135345639G>A	ENSP00000440689:p.Asp167Asn					SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.D167N|CYP2E1_ENST00000480558.1_3'UTR	p.D167N			P05181	CP2E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	6	771	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	167					Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	ENST00000463117.2	37	c.499G>A	CCDS7686.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190522	0.38707	.	.	ENSG00000130649	ENST00000463117;ENST00000252945;ENST00000421586;ENST00000418356	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	4.59	4.59	0.56863	.	0.081583	0.85682	D	0.000000	T	0.70098	0.3185	L	0.49256	1.55	0.36824	D	0.886529	B	0.14012	0.009	B	0.16722	0.016	T	0.71951	-0.4437	10	0.56958	D	0.05	.	15.7018	0.77547	0.0:0.0:1.0:0.0	.	167	P05181	CP2E1_HUMAN	N	167;167;80;30	ENSP00000440689:D167N;ENSP00000252945:D167N;ENSP00000412754:D80N;ENSP00000397299:D30N	ENSP00000252945:D167N	D	+	1	0	CYP2E1	135195629	0.995000	0.38212	0.963000	0.40424	0.010000	0.07245	2.312000	0.43726	2.837000	0.97791	0.655000	0.94253	GAC		0.552	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773		10	565	0	0	0	1	0	10	565				
POP4	10775	broad.mit.edu	37	19	30099608	30099608	+	Missense_Mutation	SNP	G	G	A	rs144806266		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:30099608G>A	ENST00000585603.1	+	2	2354	c.52G>A	c.(52-54)Gat>Aat	p.D18N	POP4_ENST00000591824.1_3'UTR|POP4_ENST00000392279.3_Silent_p.P11P|POP4_ENST00000221770.3_De_novo_Start_InFrame			O95707	RPP29_HUMAN	processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae)	18					mRNA cleavage (GO:0006379)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)|ribonuclease P complex (GO:0030677)	ribonuclease P activity (GO:0004526)|ribonuclease P RNA binding (GO:0033204)|RNA binding (GO:0003723)	p.D18Y(1)		breast(1)|endometrium(1)|lung(4)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			GAATGACTCCGATGTCCAGGT	0.488																																					Melanoma(89;1165 1449 14085 34436 43672)	ENST00000585603.1																			1	Substitution - Missense(1)	p.D18Y(1)	lung(1)	breast(1)|endometrium(1)|lung(4)	6						c.(52-54)Gat>Aat		processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae)		G	ASN/ASP	0,4406		0,0,2203	136.0	135.0	135.0		52	4.9	0.9	19	dbSNP_134	135	2,8598	2.2+/-6.3	0,2,4298	no	missense	POP4	NM_006627.2	23	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	18/221	30099608	2,13004	2203	4300	6503	SO:0001583	missense	10775				mRNA cleavage|rRNA processing|tRNA processing	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease P activity|RNA binding	g.chr19:30099608G>A	BC006098	CCDS12416.1	19q13.11	2012-05-21				ENSG00000105171			30081	protein-coding gene	gene with protein product		606114				10352175, 10024167	Standard	NM_006627		Approved	RPP29	uc002nsf.2	O95707		ENST00000585603.1:c.52G>A	19.37:g.30099608G>A	ENSP00000465213:p.Asp18Asn					POP4_ENST00000392279.3_Silent_p.P11P|POP4_ENST00000591824.1_3'UTR|POP4_ENST00000221770.3_De_novo_Start_InFrame	p.D18N			O95707	RPP29_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)		2	2354	+	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		18					Q5XKL7|Q6FHW9|Q9UQQ3	Missense_Mutation	SNP	ENST00000585603.1	37	c.52G>A	CCDS12416.1	.	.	.	.	.	.	.	.	.	.	G	9.526	1.109508	0.20714	0.0	2.33E-4	ENSG00000105171	ENST00000221770	.	.	.	4.93	4.93	0.64822	.	0.166481	0.51477	D	0.000082	T	0.40145	0.1105	L	0.51422	1.61	0.80722	D	1	P	0.41710	0.76	B	0.31191	0.125	T	0.29366	-1.0014	9	0.17832	T	0.49	-9.6693	13.8237	0.63338	0.0:0.0:1.0:0.0	.	18	O95707	RPP29_HUMAN	N	18	.	ENSP00000221770:D18N	D	+	1	0	POP4	34791448	0.984000	0.35163	0.911000	0.35937	0.062000	0.15995	4.055000	0.57441	2.719000	0.93026	0.655000	0.94253	GAT		0.488	POP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458710.1	NM_006627		15	426	0	0	0	1	0	15	426				
PCDHGA4	56111	broad.mit.edu	37	5	140734992	140734992	+	Silent	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:140734992C>T	ENST00000571252.1	+	1	225	c.225C>T	c.(223-225)ttC>ttT	p.F75F	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	75	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGCTTTTCGCCCTGAACC	0.637																																						ENST00000571252.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(223-225)ttC>ttT									51.0	61.0	57.0					5																	140734992		2185	4297	6482	SO:0001819	synonymous_variant	0							g.chr5:140734992C>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.225C>T	5.37:g.140734992C>T						PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	p.F75F	NM_018917.2	NP_061740.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	225	+								Q9Y5D3	Silent	SNP	ENST00000571252.1	37	c.225C>T	CCDS58979.1																																																																																				0.637	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		11	532	0	0	0	1	0	11	532				
KDM4C	23081	broad.mit.edu	37	9	6980958	6980958	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:6980958A>G	ENST00000381309.3	+	9	1520	c.955A>G	c.(955-957)Atg>Gtg	p.M319V	KDM4C_ENST00000442236.2_Missense_Mutation_p.M138V|KDM4C_ENST00000536108.1_Missense_Mutation_p.M138V|RP11-403H13.1_ENST00000445708.1_RNA|KDM4C_ENST00000535193.1_Missense_Mutation_p.M341V|KDM4C_ENST00000381306.3_Missense_Mutation_p.M319V|KDM4C_ENST00000543771.1_Missense_Mutation_p.M319V|KDM4C_ENST00000428870.2_Missense_Mutation_p.M6V	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	319					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						GAAGATTTCAATGGATATCTT	0.423																																						ENST00000381309.3																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(955-957)Atg>Gtg		lysine (K)-specific demethylase 4C							128.0	119.0	122.0					9																	6980958		2203	4300	6503	SO:0001583	missense	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:6980958A>G	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.955A>G	9.37:g.6980958A>G	ENSP00000370710:p.Met319Val					KDM4C_ENST00000428870.2_Missense_Mutation_p.M6V|KDM4C_ENST00000536108.1_Missense_Mutation_p.M138V|KDM4C_ENST00000543771.1_Missense_Mutation_p.M319V|KDM4C_ENST00000381306.3_Missense_Mutation_p.M319V|KDM4C_ENST00000442236.2_Missense_Mutation_p.M138V|KDM4C_ENST00000535193.1_Missense_Mutation_p.M341V	p.M319V	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN			9	1520	+			319					B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	c.955A>G	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	A	19.45	3.829787	0.71258	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000442236;ENST00000536108;ENST00000428870	T;T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;2.19	5.54	5.54	0.83059	.	0.089541	0.85682	D	0.000000	D	0.85195	0.5641	M	0.82923	2.615	0.58432	D	0.999997	D;D;D;D;D	0.89917	0.997;0.996;0.993;1.0;1.0	D;D;D;D;D	0.91635	0.976;0.993;0.966;0.998;0.999	D	0.87585	0.2487	10	0.87932	D	0	-4.562	15.6569	0.77144	1.0:0.0:0.0:0.0	.	138;319;341;319;319	E7EV17;F5H347;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;KDM4C_HUMAN;.	V	341;319;319;319;138;138;6	ENSP00000442382:M341V;ENSP00000445427:M319V;ENSP00000370710:M319V;ENSP00000370707:M319V;ENSP00000409353:M138V;ENSP00000440656:M138V;ENSP00000405739:M6V	ENSP00000370707:M319V	M	+	1	0	KDM4C	6970958	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	9.249000	0.95470	2.095000	0.63458	0.477000	0.44152	ATG		0.423	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		171	183	0	0	0	1	0	171	183				
ZNF560	147741	broad.mit.edu	37	19	9578330	9578330	+	Silent	SNP	G	G	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:9578330G>T	ENST00000301480.4	-	10	1506	c.1293C>A	c.(1291-1293)acC>acA	p.T431T		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	431					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CACATTTAAAGGTTTTCTCTC	0.413																																						ENST00000301480.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(1291-1293)acC>acA		zinc finger protein 560							66.0	72.0	70.0					19																	9578330		2203	4300	6503	SO:0001819	synonymous_variant	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9578330G>T	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1293C>A	19.37:g.9578330G>T							p.T431T	NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN			10	1506	-			431					Q495S9|Q495T1	Silent	SNP	ENST00000301480.4	37	c.1293C>A	CCDS12214.1																																																																																				0.413	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		5	284	1	0	0.000602214	1	0.000613732	5	284				
HEPACAM	220296	broad.mit.edu	37	11	124793759	124793759	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr11:124793759C>A	ENST00000298251.4	-	3	980	c.575G>T	c.(574-576)aGa>aTa	p.R192I		NM_152722.4	NP_689935.2			hepatic and glial cell adhesion molecule											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CAGGAGCATTCTCGAGTCATT	0.582																																						ENST00000298251.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(574-576)aGa>aTa		hepatic and glial cell adhesion molecule							130.0	92.0	105.0					11																	124793759		2201	4299	6500	SO:0001583	missense	220296				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane		g.chr11:124793759C>A	AK098396	CCDS8456.1	11q24.2	2013-01-29	2011-02-11		ENSG00000165478	ENSG00000165478		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26361	protein-coding gene	gene with protein product	"""glial cell adhesion molecule"""	611642	"""hepatocyte cell adhesion molecule"""			15885354, 15917256	Standard	NM_152722		Approved	FLJ25530, hepaCAM, GLIALCAM	uc001qbk.3	Q14CZ8	OTTHUMG00000165938	ENST00000298251.4:c.575G>T	11.37:g.124793759C>A	ENSP00000298251:p.Arg192Ile						p.R192I	NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	3	980	-	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	192			Ig-like C2-type.			Missense_Mutation	SNP	ENST00000298251.4	37	c.575G>T	CCDS8456.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.979103	0.92982	.	.	ENSG00000165478	ENST00000298251;ENST00000374961	T	0.80824	-1.42	5.67	5.67	0.87782	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.098628	0.64402	D	0.000003	D	0.91466	0.7306	M	0.88310	2.945	0.49687	D	0.999818	D;D	0.71674	0.998;0.997	D;D	0.69479	0.964;0.947	D	0.92358	0.5895	10	0.72032	D	0.01	-9.4137	19.7543	0.96284	0.0:1.0:0.0:0.0	.	192;192	Q14CZ8-2;Q14CZ8	.;HECAM_HUMAN	I	192	ENSP00000298251:R192I	ENSP00000298251:R192I	R	-	2	0	HEPACAM	124298969	0.879000	0.30193	0.062000	0.19696	0.907000	0.53573	7.818000	0.86416	2.676000	0.91093	0.655000	0.94253	AGA		0.582	HEPACAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387125.1	NM_152722		13	100	1	0	0.00010058	1	0.000104212	13	100				
TCF20	6942	broad.mit.edu	37	22	42605760	42605760	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr22:42605760T>C	ENST00000359486.3	-	1	5688	c.5552A>G	c.(5551-5553)gAa>gGa	p.E1851G	TCF20_ENST00000404876.1_Missense_Mutation_p.E152G|TCF20_ENST00000335626.4_Missense_Mutation_p.E1851G	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1851					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GACCCAAAATTCATTGCTGTC	0.517																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(5551-5553)gAa>gGa		transcription factor 20 (AR1)							148.0	150.0	150.0					22																	42605760		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42605760T>C	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5552A>G	22.37:g.42605760T>C	ENSP00000352463:p.Glu1851Gly					TCF20_ENST00000335626.4_Missense_Mutation_p.E1851G|TCF20_ENST00000404876.1_Missense_Mutation_p.E152G	p.E1851G	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	5688	-			1851					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.5552A>G	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.966167	0.74131	.	.	ENSG00000100207	ENST00000359486;ENST00000335626;ENST00000404876	T;T;T	0.71103	-0.02;-0.06;-0.54	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.84701	0.5530	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	D	0.86409	0.1747	10	0.87932	D	0	-20.7853	16.6288	0.85011	0.0:0.0:0.0:1.0	.	1851;1851	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	G	1851;1851;152	ENSP00000352463:E1851G;ENSP00000335561:E1851G;ENSP00000385531:E152G	ENSP00000335561:E1851G	E	-	2	0	TCF20	40935704	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.991000	0.88244	2.326000	0.78906	0.533000	0.62120	GAA		0.517	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		155	728	0	0	0	1	0	155	728				
ALDH5A1	7915	broad.mit.edu	37	6	24515421	24515421	+	Silent	SNP	A	A	G			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr6:24515421A>G	ENST00000357578.3	+	5	898	c.753A>G	c.(751-753)tcA>tcG	p.S251S	ALDH5A1_ENST00000546278.1_Silent_p.S163S|ALDH5A1_ENST00000491546.1_Silent_p.S223S|ALDH5A1_ENST00000348925.2_Silent_p.S264S	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	251					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	GGATTCCTTCAGGTGTATACA	0.378																																						ENST00000357578.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20						c.(751-753)tcA>tcG		aldehyde dehydrogenase 5 family, member A1	Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)						137.0	130.0	132.0					6																	24515421		2203	4300	6503	SO:0001819	synonymous_variant	7915				acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity	g.chr6:24515421A>G	L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"""Aldehyde dehydrogenases"""	408	protein-coding gene	gene with protein product	"""succinate-semialdehyde dehydrogenase"""	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.753A>G	6.37:g.24515421A>G						ALDH5A1_ENST00000546278.1_Silent_p.S163S|ALDH5A1_ENST00000348925.2_Silent_p.S264S|ALDH5A1_ENST00000491546.1_Silent_p.S223S	p.S251S	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN			5	898	+			251					B2RD26|G5E949|Q546H9|Q8N3W6	Silent	SNP	ENST00000357578.3	37	c.753A>G	CCDS4555.1																																																																																				0.378	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040007.2			102	366	0	0	0	1	0	102	366				
KIR3DX1	90011	broad.mit.edu	37	19	55045157	55045157	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:55045157A>G	ENST00000335056.3	+	3	315	c.277A>G	c.(277-279)Aga>Gga	p.R93G				Q9H7L2	KI3X1_HUMAN	killer cell immunoglobulin-like receptor, three domains, X1	93	Ig-like C2-type 1.					extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		AGGGACCTACAGATGTGTTGG	0.527																																					Colon(183;529 2002 28270 32358 35845)|Esophageal Squamous(50;443 1006 2278 10294 37938)	ENST00000335056.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24						c.(277-279)Aga>Gga									80.0	83.0	82.0					19																	55045157		2111	4245	6356	SO:0001583	missense	0							g.chr19:55045157A>G	BC033195		19q13.42	2013-03-26	2006-09-12	2006-09-12	ENSG00000104970	ENSG00000104970		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	25043	other	unknown			"""leukocyte receptor cluster (LRC) member 12"""	LENG12		11441184	Standard	NR_026716		Approved	FLJ00060	uc010erm.2	Q9H7L2	OTTHUMG00000065696	ENST00000335056.3:c.277A>G	19.37:g.55045157A>G	ENSP00000335388:p.Arg93Gly						p.R93G						GBM - Glioblastoma multiforme(193;0.099)	3	315	+								B7WNL0|Q8N0S4	Missense_Mutation	SNP	ENST00000335056.3	37	c.277A>G		.	.	.	.	.	.	.	.	.	.	A	9.490	1.100390	0.20552	.	.	ENSG00000104970	ENST00000335056	T	0.14022	2.54	3.13	-0.393	0.12438	.	.	.	.	.	T	0.12817	0.0311	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31998	-0.9923	6	0.87932	D	0	.	2.953	0.05868	0.4775:0.2387:0.2838:0.0	.	.	.	.	G	93	ENSP00000335388:R93G	ENSP00000221567:R93G	R	+	1	2	KIR3DX1	59736969	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.770000	0.26618	-0.005000	0.14395	0.533000	0.62120	AGA		0.527	KIR3DX1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000140800.2	NR_026716		39	121	0	0	0	1	0	39	121				
DMBT1	1755	broad.mit.edu	37	10	124380681	124380681	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr10:124380681G>A	ENST00000338354.3	+	41	5112	c.5006G>A	c.(5005-5007)tGg>tAg	p.W1669*	DMBT1_ENST00000330163.4_Nonsense_Mutation_p.W1041*|DMBT1_ENST00000368956.2_Nonsense_Mutation_p.W1041*|DMBT1_ENST00000344338.3_Nonsense_Mutation_p.W1659*|DMBT1_ENST00000368955.3_Nonsense_Mutation_p.W1659*|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Nonsense_Mutation_p.W1669*			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1669	SRCR 13. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GATGACAGCTGGGACACCAAT	0.612																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(5005-5007)tGg>tAg		deleted in malignant brain tumors 1							237.0	239.0	238.0					10																	124380681		2031	4190	6221	SO:0001587	stop_gained	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124380681G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5006G>A	10.37:g.124380681G>A	ENSP00000342210:p.Trp1669*					DMBT1_ENST00000344338.3_Nonsense_Mutation_p.W1659*|DMBT1_ENST00000368956.2_Nonsense_Mutation_p.W1041*|DMBT1_ENST00000330163.4_Nonsense_Mutation_p.W1041*|DMBT1_ENST00000368955.3_Nonsense_Mutation_p.W1659*|DMBT1_ENST00000368909.3_Nonsense_Mutation_p.W1669*|DMBT1_ENST00000359586.6_Intron	p.W1669*			Q9UGM3	DMBT1_HUMAN			41	5112	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1669			SRCR 13.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Nonsense_Mutation	SNP	ENST00000338354.3	37	c.5006G>A		.	.	.	.	.	.	.	.	.	.	-	39	7.828183	0.98513	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	.	.	.	3.79	3.79	0.43588	.	0.000000	0.40554	U	0.001068	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5889	0.76510	0.0:0.0:1.0:0.0	.	.	.	.	X	1669;1798;1669;1669;1669;1669;1041;1659;1041;1041;1669;1659;1041	.	ENSP00000331522:W1041X	W	+	2	0	DMBT1	124370671	1.000000	0.71417	1.000000	0.80357	0.296000	0.27459	9.257000	0.95545	2.068000	0.61886	0.461000	0.40582	TGG		0.612	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		34	1502	0	0	0	1	0	34	1502				
CXCR1	3577	broad.mit.edu	37	2	219029669	219029669	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:219029669G>A	ENST00000295683.2	-	2	386	c.266C>T	c.(265-267)gCc>gTc	p.A89V		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	89					cell surface receptor signaling pathway (GO:0007166)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|receptor internalization (GO:0031623)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	CAAGGTCAGGGCAAAGAGTAG	0.557																																						ENST00000295683.2																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						c.(265-267)gCc>gTc		chemokine (C-X-C motif) receptor 1							118.0	114.0	116.0					2																	219029669		2203	4300	6503	SO:0001583	missense	3577				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	g.chr2:219029669G>A	U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6026	protein-coding gene	gene with protein product		146929	"""interleukin 8 receptor, alpha"""	CMKAR1, IL8RA		1303245, 1427896	Standard	NM_000634		Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.266C>T	2.37:g.219029669G>A	ENSP00000295683:p.Ala89Val						p.A89V	NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN			2	386	-			89					B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Missense_Mutation	SNP	ENST00000295683.2	37	c.266C>T	CCDS2409.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068880	0.76301	.	.	ENSG00000163464	ENST00000295683	T	0.37235	1.21	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.260617	0.37348	N	0.002122	T	0.22589	0.0545	N	0.16903	0.455	0.32106	N	0.589958	B	0.33748	0.423	B	0.39805	0.31	T	0.15093	-1.0449	10	0.02654	T	1	.	11.0786	0.48047	0.0865:0.0:0.9135:0.0	.	89	P25024	CXCR1_HUMAN	V	89	ENSP00000295683:A89V	ENSP00000295683:A89V	A	-	2	0	CXCR1	218737914	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	5.713000	0.68415	2.415000	0.81967	0.655000	0.94253	GCC		0.557	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256773.2	NM_000634		13	429	0	0	0	1	0	13	429				
CCDC33	80125	broad.mit.edu	37	15	74622597	74622597	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr15:74622597C>A	ENST00000398814.3	+	12	1789	c.1358C>A	c.(1357-1359)gCc>gAc	p.A453D	CCDC33_ENST00000268082.4_Missense_Mutation_p.A46D|CCDC33_ENST00000558821.1_Missense_Mutation_p.A46D|CCDC33_ENST00000321288.5_Missense_Mutation_p.A656D	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	656										breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CGGAGACAGGCCAGCATCCTG	0.622																																						ENST00000321288.5																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(1966-1968)gCc>gAc		coiled-coil domain containing 33							40.0	48.0	46.0					15																	74622597		2037	4179	6216	SO:0001583	missense	80125						protein binding	g.chr15:74622597C>A	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.1358C>A	15.37:g.74622597C>A	ENSP00000381795:p.Ala453Asp					CCDC33_ENST00000398814.3_Missense_Mutation_p.A453D|CCDC33_ENST00000268082.4_Missense_Mutation_p.A46D|CCDC33_ENST00000558821.1_Missense_Mutation_p.A46D	p.A656D			Q8N5R6	CCD33_HUMAN			14	1967	+			656					A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	ENST00000398814.3	37	c.1967C>A	CCDS42058.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902896	0.33628	.	.	ENSG00000140481	ENST00000321288;ENST00000398814;ENST00000321374;ENST00000268082	T;T;T;T	0.35605	1.3;2.16;1.81;1.81	4.92	-0.976	0.10286	.	0.879833	0.09776	N	0.757340	T	0.42921	0.1224	M	0.63428	1.95	0.09310	N	1	P;P;D;D	0.54397	0.859;0.935;0.966;0.96	P;P;P;P	0.51266	0.491;0.664;0.543;0.572	T	0.40887	-0.9539	10	0.66056	D	0.02	.	8.9901	0.36019	0.0:0.4497:0.0:0.5503	.	46;46;656;453	Q8N5R6-4;Q8N5R6-5;C9JFX2;Q8N5R6-6	.;.;.;.	D	656;453;46;46	ENSP00000325012:A656D;ENSP00000381795:A453D;ENSP00000325661:A46D;ENSP00000268082:A46D	ENSP00000268082:A46D	A	+	2	0	CCDC33	72409650	0.000000	0.05858	0.081000	0.20488	0.098000	0.18820	0.087000	0.14958	-0.073000	0.12842	0.643000	0.83706	GCC		0.622	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		11	74	1	0	1.58986e-06	1	1.67994e-06	11	74				
HTR5A	3361	broad.mit.edu	37	7	154876006	154876006	+	Missense_Mutation	SNP	G	G	A	rs371458123		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:154876006G>A	ENST00000287907.2	+	2	1459	c.883G>A	c.(883-885)Gtg>Atg	p.V295M	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	295					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)	p.V295M(2)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	TGGCGTGTTCGTGCTCTGCTG	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17773	0.0		0.0	False		,,,				2504	0.0					ENST00000287907.2																			2	Substitution - Missense(2)	p.V295M(2)	breast(1)|endometrium(1)	NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(883-885)Gtg>Atg		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled		G	MET/VAL	0,4406		0,0,2203	225.0	180.0	196.0		883	4.9	0.0	7		196	1,8599	1.2+/-3.3	0,1,4299	no	missense	HTR5A	NM_024012.2	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	295/358	154876006	1,13005	2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154876006G>A		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.883G>A	7.37:g.154876006G>A	ENSP00000287907:p.Val295Met					HTR5A_ENST00000486819.1_3'UTR	p.V295M	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	2	1459	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	295					Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.883G>A	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272180	0.59649	0.0	1.16E-4	ENSG00000157219	ENST00000287907	T	0.74526	-0.85	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.269264	0.35708	N	0.003021	D	0.86732	0.6003	M	0.83774	2.66	0.51233	D	0.999914	D	0.61080	0.989	D	0.66196	0.942	D	0.88554	0.3118	10	0.59425	D	0.04	.	18.1526	0.89679	0.0:0.0:1.0:0.0	.	295	P47898	5HT5A_HUMAN	M	295	ENSP00000287907:V295M	ENSP00000287907:V295M	V	+	1	0	HTR5A	154506939	1.000000	0.71417	0.033000	0.17914	0.073000	0.16967	9.438000	0.97539	2.274000	0.75844	0.655000	0.94253	GTG		0.622	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		28	625	0	0	0	1	0	28	625				
SALL1	6299	broad.mit.edu	37	16	51175457	51175457	+	Missense_Mutation	SNP	C	C	T	rs149603480		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr16:51175457C>T	ENST00000251020.4	-	2	709	c.676G>A	c.(676-678)Gtc>Atc	p.V226I	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.V129I	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	226					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V226I(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGGGCTGGGACGGCCAGCTTG	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		15826	0.001		0.0	False		,,,				2504	0.0				GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			1	Substitution - Missense(1)	p.V226I(1)	large_intestine(1)	NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(385-387)Gtc>Atc		spalt-like transcription factor 1		C	ILE/VAL,ILE/VAL	0,4396		0,0,2198	70.0	75.0	73.0		385,676	0.6	0.7	16	dbSNP_134	73	5,8595	4.3+/-15.6	0,5,4295	no	missense,missense	SALL1	NM_001127892.1,NM_002968.2	29,29	0,5,6493	TT,TC,CC		0.0581,0.0,0.0385	benign,benign	129/1228,226/1325	51175457	5,12991	2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175457C>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.676G>A	16.37:g.51175457C>T	ENSP00000251020:p.Val226Ile					SALL1_ENST00000251020.4_Missense_Mutation_p.V226I|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	p.V129I	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	816	-		all_cancers(37;0.0322)	226					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.385G>A	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	0.183	-1.060377	0.01950	0.0	5.81E-4	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.03689	3.84;3.96	5.37	0.636	0.17729	.	0.164918	0.53938	N	0.000059	T	0.01387	0.0045	N	0.02916	-0.46	0.43137	D	0.994888	B	0.13594	0.008	B	0.04013	0.001	T	0.50083	-0.8869	10	0.02654	T	1	.	10.7066	0.45958	0.0:0.6902:0.0:0.3098	.	226	Q9NSC2	SALL1_HUMAN	I	226;129;190	ENSP00000251020:V226I;ENSP00000407914:V129I	ENSP00000251020:V226I	V	-	1	0	SALL1	49732958	0.994000	0.37717	0.692000	0.30179	0.505000	0.33919	2.525000	0.45598	0.235000	0.21160	0.561000	0.74099	GTC		0.592	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		225	243	0	0	0	1	0	225	243				
ARHGEF37	389337	broad.mit.edu	37	5	149011717	149011717	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:149011717G>A	ENST00000333677.6	+	13	2154	c.1991G>A	c.(1990-1992)cGg>cAg	p.R664Q		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	664	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GCCAGGGCTCGGAGCCCAGTT	0.592																																						ENST00000333677.6																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						c.(1990-1992)cGg>cAg		Rho guanine nucleotide exchange factor (GEF) 37							75.0	77.0	76.0					5																	149011717		1896	4122	6018	SO:0001583	missense	389337				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr5:149011717G>A	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"""Rho guanine nucleotide exchange factors"""	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.1991G>A	5.37:g.149011717G>A	ENSP00000328083:p.Arg664Gln						p.R664Q	NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN			13	2154	+			664			SH3 2.		Q6ZW51	Missense_Mutation	SNP	ENST00000333677.6	37	c.1991G>A	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	G	9.594	1.126923	0.20959	.	.	ENSG00000183111	ENST00000333677	T	0.67698	-0.28	5.44	2.68	0.31781	Src homology-3 domain (3);	0.151476	0.64402	N	0.000010	T	0.39462	0.1079	N	0.04787	-0.16	0.19945	N	0.999946	B	0.06786	0.001	B	0.01281	0.0	T	0.26503	-1.0101	10	0.56958	D	0.05	.	4.3428	0.11119	0.1298:0.6034:0.1266:0.1402	.	664	A1IGU5	ARH37_HUMAN	Q	664	ENSP00000328083:R664Q	ENSP00000328083:R664Q	R	+	2	0	ARHGEF37	148991910	0.011000	0.17503	0.036000	0.18154	0.004000	0.04260	0.573000	0.23699	0.276000	0.22118	-0.783000	0.03347	CGG		0.592	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669		11	264	0	0	0	1	0	11	264				
TP53I3	9540	broad.mit.edu	37	2	24299094	24299094	+	IGR	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:24299094C>T	ENST00000238721.4	-	0	1998				SF3B14_ENST00000233468.4_Silent_p.A2A	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3						NADP metabolic process (GO:0006739)	extracellular vesicular exosome (GO:0070062)	NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCTTGCATCGCCATCTTGG	0.567																																						ENST00000233468.4																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(4-6)gcG>gcA									140.0	128.0	132.0					2																	24299094		2203	4300	6503	SO:0001628	intergenic_variant	0				nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr2:24299094C>T	AF010309	CCDS1708.1, CCDS56112.1	2p23.3	2009-06-12			ENSG00000115129	ENSG00000115129			19373	protein-coding gene	gene with protein product		605171				11919562, 10840161, 19349281	Standard	NM_004881		Approved	PIG3	uc002rez.2	Q53FA7	OTTHUMG00000090817		2.37:g.24299094C>T							p.A2A	NM_016047.3	NP_057131.1	Q9Y3B4	PM14_HUMAN			1	219	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2					D6W533|O14679|O14685|Q38G78|Q6JLE7|Q9BWB8	Silent	SNP	ENST00000238721.4	37	c.6G>A	CCDS1708.1																																																																																				0.567	TP53I3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207618.2	NM_004881		173	337	0	0	0	1	0	173	337				
SOCS4	122809	broad.mit.edu	37	14	55510690	55510690	+	Nonsense_Mutation	SNP	C	C	T	rs372537919		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr14:55510690C>T	ENST00000395472.2	+	2	1263	c.931C>T	c.(931-933)Cga>Tga	p.R311*	SOCS4_ENST00000555846.1_Nonsense_Mutation_p.R311*|SOCS4_ENST00000339298.2_Nonsense_Mutation_p.R311*	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	311	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)			p.R311*(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						CTTTTTACTTCGAGACTCAGC	0.418																																						ENST00000395472.2																			1	Substitution - Nonsense(1)	p.R311*(1)	large_intestine(1)	central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						c.(931-933)Cga>Tga		suppressor of cytokine signaling 4		C	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	121.0	122.0	122.0		931,931	4.9	1.0	14		122	0,8600		0,0,4300	no	stop-gained,stop-gained	SOCS4	NM_080867.2,NM_199421.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	311/441,311/441	55510690	1,13005	2203	4300	6503	SO:0001587	stop_gained	122809				intracellular signal transduction|negative regulation of signal transduction|regulation of growth			g.chr14:55510690C>T	AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19392	protein-coding gene	gene with protein product			"""suppressor of cytokine signaling 7"""	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.931C>T	14.37:g.55510690C>T	ENSP00000378855:p.Arg311*					SOCS4_ENST00000555846.1_Nonsense_Mutation_p.R311*|SOCS4_ENST00000339298.2_Nonsense_Mutation_p.R311*	p.R311*	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN			2	1263	+			311			SH2.			Nonsense_Mutation	SNP	ENST00000395472.2	37	c.931C>T	CCDS9722.1	.	.	.	.	.	.	.	.	.	.	C	37	6.115190	0.97296	2.27E-4	0.0	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	.	.	.	5.77	4.87	0.63330	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2067	16.1994	0.82060	0.1342:0.8658:0.0:0.0	.	.	.	.	X	311	.	ENSP00000341327:R311X	R	+	1	2	SOCS4	54580443	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	3.958000	0.56737	1.406000	0.46857	-0.188000	0.12872	CGA		0.418	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276910.1			8	537	0	0	0	1	0	8	537				
EPHB3	2049	broad.mit.edu	37	3	184298566	184298566	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr3:184298566G>A	ENST00000330394.2	+	13	2890	c.2438G>A	c.(2437-2439)cGg>cAg	p.R813Q	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	813	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ATAGCCTATCGGAAGTTCACT	0.602																																						ENST00000330394.2																			0				breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(2437-2439)cGg>cAg		EPH receptor B3							99.0	90.0	93.0					3																	184298566		2203	4300	6503	SO:0001583	missense	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184298566G>A	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2438G>A	3.37:g.184298566G>A	ENSP00000332118:p.Arg813Gln					EIF2B5_ENST00000444495.1_Intron	p.R813Q	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		13	2890	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		813			Protein kinase.		Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	c.2438G>A	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.584076	0.86748	.	.	ENSG00000182580	ENST00000330394	D	0.82619	-1.63	4.12	4.12	0.48240	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88496	0.6452	L	0.50919	1.6	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89980	0.4100	10	0.87932	D	0	.	16.259	0.82532	0.0:0.0:1.0:0.0	.	813	P54753	EPHB3_HUMAN	Q	813	ENSP00000332118:R813Q	ENSP00000332118:R813Q	R	+	2	0	EPHB3	185781260	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.859000	0.99545	2.260000	0.74910	0.643000	0.83706	CGG		0.602	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		117	116	0	0	0	1	0	117	116				
ST6GALNAC3	256435	broad.mit.edu	37	1	76779655	76779655	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:76779655T>C	ENST00000328299.3	+	2	332	c.184T>C	c.(184-186)Tat>Cat	p.Y62H	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	62					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TCGAACTCACTATGGATACAT	0.443																																						ENST00000328299.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						c.(184-186)Tat>Cat		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3							113.0	103.0	106.0					1																	76779655		2203	4300	6503	SO:0001583	missense	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:76779655T>C		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.184T>C	1.37:g.76779655T>C	ENSP00000329214:p.Tyr62His					ST6GALNAC3_ENST00000464140.1_3'UTR	p.Y62H	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN			2	332	+			62					Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	c.184T>C	CCDS672.1	.	.	.	.	.	.	.	.	.	.	T	8.178	0.793122	0.16327	.	.	ENSG00000184005	ENST00000394994;ENST00000328299;ENST00000394993	T	0.29397	1.57	5.12	3.98	0.46160	.	0.392546	0.27266	N	0.020145	T	0.05044	0.0135	N	0.11560	0.145	0.32905	D	0.513777	B;B	0.10296	0.003;0.001	B;B	0.12156	0.007;0.001	T	0.32929	-0.9888	10	0.15499	T	0.54	-33.1485	6.506	0.22196	0.0:0.0818:0.1545:0.7637	.	62;62	Q8NDV1;Q8NDV1-2	SIA7C_HUMAN;.	H	62;62;61	ENSP00000329214:Y62H	ENSP00000329214:Y62H	Y	+	1	0	ST6GALNAC3	76552243	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.668000	0.46816	1.922000	0.55676	0.402000	0.26972	TAT		0.443	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		8	213	0	0	0	1	0	8	213				
CPNE3	8895	broad.mit.edu	37	8	87549866	87549866	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr8:87549866C>T	ENST00000521271.1	+	7	697	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	CPNE3_ENST00000198765.4_Missense_Mutation_p.R179W	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	179	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)	p.R179W(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						AATGGTTCATCGGACAGAGGT	0.323																																						ENST00000521271.1																			1	Substitution - Missense(1)	p.R179W(1)	lung(1)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(535-537)Cgg>Tgg		copine III							126.0	114.0	118.0					8																	87549866		2203	4300	6503	SO:0001583	missense	8895				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity	g.chr8:87549866C>T	AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.535C>T	8.37:g.87549866C>T	ENSP00000430934:p.Arg179Trp					CPNE3_ENST00000198765.4_Missense_Mutation_p.R179W	p.R179W	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN			7	697	+			179			C2 2.		A8KA47|Q8IYA1	Missense_Mutation	SNP	ENST00000521271.1	37	c.535C>T	CCDS6243.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162009	0.78226	.	.	ENSG00000085719	ENST00000198765;ENST00000521271;ENST00000523072	T;T;T	0.49720	0.77;0.77;0.77	5.63	4.67	0.58626	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.77068	0.4076	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.83784	0.0227	10	0.87932	D	0	-18.6989	13.284	0.60232	0.273:0.727:0.0:0.0	.	179	O75131	CPNE3_HUMAN	W	179	ENSP00000198765:R179W;ENSP00000430934:R179W;ENSP00000427791:R179W	ENSP00000198765:R179W	R	+	1	2	CPNE3	87618982	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.499000	0.60380	2.644000	0.89710	0.655000	0.94253	CGG		0.323	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374994.1			16	401	0	0	0	1	0	16	401				
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:155887393T>G	ENST00000368321.3	-	11	1360	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	KIAA0907_ENST00000368320.3_Missense_Mutation_p.Q446P|SNORA42_ENST00000384744.1_RNA	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	446	Pro-rich.						RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1336-1338)cAg>cCg		KIAA0907							14.0	18.0	16.0					1																	155887393		2157	4273	6430	SO:0001583	missense	22889							g.chr1:155887393T>G	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1337A>C	1.37:g.155887393T>G	ENSP00000357304:p.Gln446Pro					KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P	p.Q446P			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		11	1362	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		446			Pro-rich.		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.1337A>C	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	T	10.66	1.413076	0.25465	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	T;T	0.32753	1.44;1.44	5.76	0.471	0.16752	.	0.977681	0.08344	N	0.960281	T	0.04003	0.0112	N	0.03608	-0.345	0.29419	N	0.860713	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43442	-0.9391	10	0.22706	T	0.39	.	8.2981	0.31997	0.1873:0.0:0.4136:0.3991	.	446;446	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	P	446	ENSP00000357304:Q446P;ENSP00000357303:Q446P	ENSP00000357303:Q446P	Q	-	2	0	KIAA0907	154154017	0.988000	0.35896	0.899000	0.35326	0.963000	0.63663	-0.615000	0.05597	-0.064000	0.13043	0.533000	0.62120	CAG		0.567	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		15	101	0	0	0	1	0	15	101				
KSR1	8844	broad.mit.edu	37	17	25783779	25783779	+	Missense_Mutation	SNP	C	C	A	rs370584036		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr17:25783779C>A	ENST00000319524.6	+	1	110	c.110C>A	c.(109-111)gCg>gAg	p.A37E	KSR1_ENST00000509603.2_Missense_Mutation_p.A37E			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	37					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A37E(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GCCAGCCGGGCGCTGCAGCAG	0.741																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000319524.6																			2	Substitution - Missense(2)	p.A37E(2)	prostate(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(109-111)gCg>gAg		kinase suppressor of ras 1																																				SO:0001583	missense	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25783779C>A	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.110C>A	17.37:g.25783779C>A	ENSP00000323178:p.Ala37Glu					KSR1_ENST00000509603.2_Missense_Mutation_p.A37E	p.A37E			Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	1	110	+	Lung NSC(42;0.00836)		35					F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	ENST00000319524.6	37	c.110C>A		.	.	.	.	.	.	.	.	.	.	C	29.4	5.000545	0.93227	.	.	ENSG00000141068	ENST00000319524;ENST00000509603	D;T	0.81579	-1.51;-1.49	4.79	3.74	0.42951	.	0.065046	0.64402	D	0.000014	D	0.84982	0.5593	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.86422	0.1755	7	0.87932	D	0	.	11.1476	0.48440	0.1841:0.8159:0.0:0.0	.	.	.	.	E	37	ENSP00000323178:A37E;ENSP00000438795:A37E	ENSP00000323178:A37E	A	+	2	0	KSR1	22807906	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.153000	0.50685	2.366000	0.80165	0.462000	0.41574	GCG		0.741	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		6	80	1	0	0.00448238	1	0.00454328	6	80				
OR10A6	390093	broad.mit.edu	37	11	7950055	7950055	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr11:7950055T>C	ENST00000309838.2	-	1	154	c.155A>G	c.(154-156)gAc>gGc	p.D52G		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GAGGCTCTGGTCTAGGGAGAC	0.478																																						ENST00000309838.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(154-156)gAc>gGc		olfactory receptor, family 10, subfamily A, member 6							115.0	109.0	111.0					11																	7950055		2201	4296	6497	SO:0001583	missense	390093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7950055T>C	AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"""GPCR / Class A : Olfactory receptors"""	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.155A>G	11.37:g.7950055T>C	ENSP00000312470:p.Asp52Gly						p.D52G	NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	154	-			52					Q6IF59	Missense_Mutation	SNP	ENST00000309838.2	37	c.155A>G	CCDS31420.1	.	.	.	.	.	.	.	.	.	.	T	4.916	0.170226	0.09339	.	.	ENSG00000175393	ENST00000309838	T	0.02890	4.12	3.58	1.16	0.20824	GPCR, rhodopsin-like superfamily (1);	0.301034	0.22817	N	0.055272	T	0.06917	0.0176	M	0.93898	3.47	0.22266	N	0.999243	B	0.12013	0.005	B	0.09377	0.004	T	0.21449	-1.0245	10	0.72032	D	0.01	.	4.9496	0.14008	0.0:0.1058:0.1871:0.7072	.	52	Q8NH74	O10A6_HUMAN	G	52	ENSP00000312470:D52G	ENSP00000312470:D52G	D	-	2	0	OR10A6	7906631	0.006000	0.16342	0.744000	0.31058	0.013000	0.08279	1.337000	0.33862	0.230000	0.21059	0.533000	0.62120	GAC		0.478	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461		11	410	0	0	0	1	0	11	410				
IAPP	3375	broad.mit.edu	37	12	21531268	21531268	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr12:21531268C>G	ENST00000240652.3	+	3	314	c.178C>G	c.(178-180)Ctc>Gtc	p.L60V	IAPP_ENST00000542023.1_3'UTR|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000537524.1_Intron|IAPP_ENST00000539393.1_Missense_Mutation_p.L60V|SLCO1A2_ENST00000307378.6_Intron	NM_000415.2	NP_000406.1	P10997	IAPP_HUMAN	islet amyloid polypeptide	60					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|endocrine pancreas development (GO:0031018)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell differentiation (GO:0045596)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	identical protein binding (GO:0042802)|receptor binding (GO:0005102)			lung(3)	3						TGGTGCCATTCTCTCATCTAC	0.453																																						ENST00000240652.3																			0				lung(3)	3						c.(178-180)Ctc>Gtc		islet amyloid polypeptide	Perindopril(DB00790)						138.0	129.0	132.0					12																	21531268		2203	4300	6503	SO:0001583	missense	3375				apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr12:21531268C>G		CCDS8688.1	12p12.1	2013-02-25			ENSG00000121351	ENSG00000121351		"""Endogenous ligands"""	5329	protein-coding gene	gene with protein product	"""amylin"""	147940					Standard	NM_000415		Approved	AMYLIN, DAP, IAP	uc001rev.3	P10997	OTTHUMG00000169128	ENST00000240652.3:c.178C>G	12.37:g.21531268C>G	ENSP00000240652:p.Leu60Val					SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000307378.6_Intron|IAPP_ENST00000539393.1_Missense_Mutation_p.L60V|SLCO1A2_ENST00000537524.1_Intron|IAPP_ENST00000542023.1_3'UTR	p.L60V	NM_000415.2	NP_000406.1	P10997	IAPP_HUMAN			3	314	+			60					Q0ZD87|Q14598	Missense_Mutation	SNP	ENST00000240652.3	37	c.178C>G	CCDS8688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.984|8.984	0.976051|0.976051	0.18736|0.18736	.|.	.|.	ENSG00000121351|ENSG00000121351	ENST00000535428|ENST00000539393;ENST00000240652;ENST00000537593	.|T;T;T	.|0.22743	.|1.94;1.94;1.94	4.45|4.45	1.29|1.29	0.21616|0.21616	.|Calcitonin peptide-like (1);	.|0.603260	.|0.17097	.|N	.|0.187135	T|T	0.14270|0.14270	0.0345|0.0345	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|P	.|0.36354	.|0.549	.|B	.|0.31946	.|0.138	T|T	0.07177|0.07177	-1.0786|-1.0786	4|9	.|0.72032	.|D	.|0.01	-0.285|-0.285	5.0931|5.0931	0.14720|0.14720	0.0:0.4101:0.0:0.5899|0.0:0.4101:0.0:0.5899	.|.	.|60	.|P10997	.|IAPP_HUMAN	L|V	55|60	.|ENSP00000437357:L60V;ENSP00000240652:L60V;ENSP00000445980:L60V	.|ENSP00000240652:L60V	F|L	+|+	3|1	2|0	IAPP|IAPP	21422535|21422535	0.658000|0.658000	0.27402|0.27402	0.002000|0.002000	0.10522|0.10522	0.069000|0.069000	0.16628|0.16628	1.198000|1.198000	0.32223|0.32223	0.476000|0.476000	0.27440|0.27440	0.650000|0.650000	0.86243|0.86243	TTC|CTC		0.453	IAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402356.1	NM_000415		238	258	0	0	0	1	0	238	258				
PLEKHG4B	153478	broad.mit.edu	37	5	161924	161924	+	Silent	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:161924G>A	ENST00000283426.6	+	10	1496	c.1446G>A	c.(1444-1446)ctG>ctA	p.L482L		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	482							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GACTACAGCTGGCGAAGGAGA	0.582																																						ENST00000283426.6																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(1444-1446)ctG>ctA		pleckstrin homology domain containing, family G (with RhoGef domain) member 4B							86.0	81.0	83.0					5																	161924		2203	4300	6503	SO:0001819	synonymous_variant	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:161924G>A	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1446G>A	5.37:g.161924G>A							p.L482L	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	10	1496	+			482						Silent	SNP	ENST00000283426.6	37	c.1446G>A	CCDS34124.1																																																																																				0.582	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		46	199	0	0	0	1	0	46	199				
TRPM2	7226	broad.mit.edu	37	21	45855046	45855046	+	Missense_Mutation	SNP	G	G	A	rs550041022		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr21:45855046G>A	ENST00000397928.1	+	28	4452	c.4007G>A	c.(4006-4008)cGc>cAc	p.R1336H	TRPM2_ENST00000300482.5_Missense_Mutation_p.R1336H|TRPM2_ENST00000300481.9_Missense_Mutation_p.R1282H|TRPM2_ENST00000397932.2_Missense_Mutation_p.R1386H|TRPM2_ENST00000498430.1_3'UTR|snoZ6_ENST00000581669.1_RNA	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1336					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)	p.R1336H(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTGCGTGGGCGCGGGAGCCTC	0.667													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15646	0.0		0.0	False		,,,				2504	0.0					ENST00000397928.1																			1	Substitution - Missense(1)	p.R1336H(1)	large_intestine(1)	breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(4006-4008)cGc>cAc		transient receptor potential cation channel, subfamily M, member 2							89.0	82.0	84.0					21																	45855046		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45855046G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.4007G>A	21.37:g.45855046G>A	ENSP00000381023:p.Arg1336His					TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.R1282H|TRPM2_ENST00000300482.5_Missense_Mutation_p.R1336H|TRPM2_ENST00000397932.2_Missense_Mutation_p.R1386H	p.R1336H	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			28	4452	+			1336					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.4007G>A	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551389	0.65311	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932;ENST00000540347	T;T;T;T	0.79033	-1.23;-1.23;2.42;-1.23	4.86	4.86	0.63082	NUDIX hydrolase domain-like (1);	0.000000	0.64402	D	0.000003	D	0.88526	0.6460	M	0.91459	3.21	0.20074	N	0.999936	D;D;D;D	0.71674	0.998;0.99;0.998;0.966	D;P;P;P	0.63703	0.917;0.72;0.751;0.635	T	0.82448	-0.0452	10	0.87932	D	0	-4.4048	11.4611	0.50211	0.0897:0.0:0.9103:0.0	.	17;1386;1122;1336	B4DVI8;E9PGK7;Q5KTC1;O94759	.;.;.;TRPM2_HUMAN	H	1336;1336;1282;1386;80	ENSP00000300482:R1336H;ENSP00000381023:R1336H;ENSP00000300481:R1282H;ENSP00000381026:R1386H	ENSP00000300481:R1282H	R	+	2	0	TRPM2	44679474	0.850000	0.29656	0.224000	0.23877	0.653000	0.38743	3.901000	0.56303	2.420000	0.82092	0.543000	0.68304	CGC		0.667	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		91	276	0	0	0	1	0	91	276				
ZBED1	9189	broad.mit.edu	37	X	2408374	2408374	+	Silent	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chrX:2408374G>A	ENST00000381223.4	-	2	590	c.387C>T	c.(385-387)gcC>gcT	p.A129A	ZBED1_ENST00000381222.2_Silent_p.A129A|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Silent_p.A129A|ZBED1_ENST00000515319.1_5'Flank	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	129					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCCCAGCACGGCGGCCGTCA	0.687																																						ENST00000381223.4																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(385-387)gcC>gcT		zinc finger, BED-type containing 1							43.0	46.0	45.0					X																	2408374		2203	4296	6499	SO:0001819	synonymous_variant	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2408374G>A	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.387C>T	X.37:g.2408374G>A						ZBED1_ENST00000381218.3_Silent_p.A129A|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Silent_p.A129A	p.A129A	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN			2	590	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	129					Q96BY4	Silent	SNP	ENST00000381223.4	37	c.387C>T	CCDS14118.1																																																																																				0.687	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		5	172	0	0	0	1	0	5	172				
AGFG2	3268	broad.mit.edu	37	7	100160565	100160565	+	Silent	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:100160565G>A	ENST00000300176.4	+	9	1289	c.1167G>A	c.(1165-1167)gcG>gcA	p.A389A	AGFG2_ENST00000474713.1_Intron|AGFG2_ENST00000262935.4_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	389	Pro-rich.				regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATGGCTTGGCGCCAGGTAAGC	0.602																																						ENST00000300176.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1165-1167)gcG>gcA		ArfGAP with FG repeats 2							65.0	55.0	58.0					7																	100160565		2203	4300	6503	SO:0001819	synonymous_variant	3268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr7:100160565G>A	AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"""ADP-ribosylation factor GTPase activating proteins"""	5177	protein-coding gene	gene with protein product		604019	"""HIV-1 Rev binding protein-like"""	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.1167G>A	7.37:g.100160565G>A						AGFG2_ENST00000474713.1_Intron|AGFG2_ENST00000262935.4_3'UTR	p.A389A	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN			9	1289	+			389			Pro-rich.		O75429|Q96AB9|Q96GL4	Silent	SNP	ENST00000300176.4	37	c.1167G>A	CCDS5697.1	.	.	.	.	.	.	.	.	.	.	G	7.134	0.580376	0.13686	.	.	ENSG00000106351	ENST00000429987	.	.	.	4.67	-1.37	0.09056	.	.	.	.	.	T	0.23806	0.0576	.	.	.	0.29943	N	0.820913	.	.	.	.	.	.	T	0.28202	-1.0051	4	.	.	.	-33.5017	1.2059	0.01895	0.1451:0.3809:0.1442:0.3298	.	.	.	.	H	131	.	.	R	+	2	0	AGFG2	99998501	0.006000	0.16342	0.077000	0.20336	0.833000	0.47200	-0.734000	0.04893	-0.503000	0.06586	-1.267000	0.01435	CGC		0.602	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1	NM_006076		9	176	0	0	0	1	0	9	176				
TRAPPC11	60684	broad.mit.edu	37	4	184598641	184598641	+	Silent	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr4:184598641C>T	ENST00000334690.6	+	8	967	c.765C>T	c.(763-765)caC>caT	p.H255H	TRAPPC11_ENST00000357207.4_Silent_p.H255H|TRAPPC11_ENST00000511409.1_3'UTR|RNU6-335P_ENST00000364563.1_RNA	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	255					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											ATCTTGTACACGAATTGAGAG	0.323																																						ENST00000334690.6																			0											c.(763-765)caC>caT		trafficking protein particle complex 11							89.0	101.0	97.0					4																	184598641		2203	4297	6500	SO:0001819	synonymous_variant	60684							g.chr4:184598641C>T		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.765C>T	4.37:g.184598641C>T						TRAPPC11_ENST00000357207.4_Silent_p.H255H|TRAPPC11_ENST00000511409.1_3'UTR	p.H255H	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN			8	967	+			255					A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Silent	SNP	ENST00000334690.6	37	c.765C>T	CCDS34112.1																																																																																				0.323	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942		19	646	0	0	0	1	0	19	646				
PCDHB7	56129	broad.mit.edu	37	5	140554443	140554443	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:140554443C>T	ENST00000231137.3	+	1	2201	c.2027C>T	c.(2026-2028)gCg>gTg	p.A676V	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	676					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCCGGAGGCGGCCCCGGAC	0.692																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(2026-2028)gCg>gTg									48.0	79.0	68.0					5																	140554443		2185	4283	6468	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554443C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2027C>T	5.37:g.140554443C>T	ENSP00000231137:p.Ala676Val						p.A676V	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2201	+			676					A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.2027C>T	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	C	4.037	0.004475	0.07866	.	.	ENSG00000113212	ENST00000231137	T	0.51817	0.69	3.77	-3.6	0.04570	.	.	.	.	.	T	0.17704	0.0425	N	0.10707	0.03	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.31641	-0.9936	9	0.02654	T	1	.	4.7814	0.13204	0.0:0.2545:0.3902:0.3553	.	676	Q9Y5E2	PCDB7_HUMAN	V	676	ENSP00000231137:A676V	ENSP00000231137:A676V	A	+	2	0	PCDHB7	140534627	0.000000	0.05858	0.077000	0.20336	0.306000	0.27790	-0.419000	0.07071	-0.428000	0.07339	0.449000	0.29647	GCG		0.692	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		31	410	0	0	0	1	0	31	410				
TCP10	6953	broad.mit.edu	37	6	167796338	167796338	+	Silent	SNP	G	G	A	rs146766441	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr6:167796338G>A	ENST00000397829.4	-	2	191	c.24C>T	c.(22-24)gcC>gcT	p.A8A	TCP10_ENST00000476779.2_Silent_p.A8A|TCP10_ENST00000366827.2_Silent_p.A8A	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	35						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		TGGGGACCTCGGCTGCTGCAG	0.667													g|||	5	0.000998403	0.0038	0.0	5008	,	,		17527	0.0		0.0	False		,,,				2504	0.0					ENST00000366827.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18						c.(22-24)gcC>gcT		t-complex 10		G		5,4321		0,5,2158	23.0	32.0	29.0		24	1.1	0.0	6	dbSNP_134	29	0,8558		0,0,4279	no	coding-synonymous	TCP10	NM_004610.3		0,5,6437	AA,AG,GG		0.0,0.1156,0.0388		8/327	167796338	5,12879	2163	4279	6442	SO:0001819	synonymous_variant	6953					cytosol		g.chr6:167796338G>A	U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"""t-complex 10 (a murine tcp homolog)"", ""t-complex 10 (mouse)"", ""t-complex 10 homolog (mouse)"""			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.24C>T	6.37:g.167796338G>A						TCP10_ENST00000397829.4_Silent_p.A8A|TCP10_ENST00000476779.2_Silent_p.A8A	p.A8A			Q12799	TCP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)	2	235	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	35					Q5JR60|Q6P4F4	Silent	SNP	ENST00000397829.4	37	c.24C>T	CCDS43527.1																																																																																				0.667	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	NM_004610		28	72	0	0	0	1	0	28	72				
ERICH3	127254	broad.mit.edu	37	1	75108727	75108727	+	Missense_Mutation	SNP	C	C	T	rs148337951	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:75108727C>T	ENST00000326665.5	-	4	517	c.299G>A	c.(298-300)cGa>cAa	p.R100Q		NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		100										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTCTGGATTCGCTCCTTCCT	0.323													C|||	9	0.00179712	0.0	0.0086	5008	,	,		17926	0.0		0.003	False		,,,				2504	0.0					ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(298-300)cGa>cAa		chromosome 1 open reading frame 173		C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	98.0	88.0	91.0		299	-2.2	0.0	1	dbSNP_134	91	27,8571	19.8+/-62.0	1,25,4273	yes	missense	C1orf173	NM_001002912.4	43	1,27,6474	TT,TC,CC		0.314,0.0454,0.223	benign	100/1531	75108727	29,12975	2203	4299	6502	SO:0001583	missense	127254							g.chr1:75108727C>T																												ENST00000326665.5:c.299G>A	1.37:g.75108727C>T	ENSP00000322609:p.Arg100Gln						p.R100Q	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			4	517	-			100					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.299G>A	CCDS30755.1	4	0.0018315018315018315	0	0.0	3	0.008287292817679558	0	0.0	1	0.0013192612137203166	C	10.69	1.420091	0.25552	4.54E-4	0.00314	ENSG00000178965	ENST00000326665	T	0.19394	2.15	5.4	-2.25	0.06888	.	.	.	.	.	T	0.07413	0.0187	M	0.64997	1.995	0.50632	D	0.999888	P	0.38642	0.641	B	0.25987	0.065	T	0.23119	-1.0197	9	0.48119	T	0.1	-0.6466	11.073	0.48014	0.0:0.5386:0.0:0.4614	.	100	Q5RHP9	CA173_HUMAN	Q	100	ENSP00000322609:R100Q	ENSP00000322609:R100Q	R	-	2	0	C1orf173	74881315	0.926000	0.31397	0.020000	0.16555	0.371000	0.29859	1.093000	0.30939	-0.662000	0.05338	-0.252000	0.11476	CGA		0.323	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			7	297	0	0	0	1	0	7	297				
TPTE2P6	374491	broad.mit.edu	37	13	25171679	25171679	+	RNA	SNP	T	T	C			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr13:25171679T>C	ENST00000453498.1	+	0	1575				TPTE2P6_ENST00000440905.1_RNA																							CTTCCCCTTCTGGGAAAGAAT	0.378																																						ENST00000453498.1																			0																																																			0							g.chr13:25171679T>C																													13.37:g.25171679T>C														0	1575	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.378	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			68	60	0	0	0	1	0	68	60				
USP44	84101	broad.mit.edu	37	12	95907493	95907493	+	IGR	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr12:95907493G>A	ENST00000258499.3	-	0	4022				METAP2_ENST00000550777.1_Missense_Mutation_p.R381H|METAP2_ENST00000261220.9_Missense_Mutation_p.R394H|METAP2_ENST00000323666.5_Missense_Mutation_p.R417H|METAP2_ENST00000546753.1_Missense_Mutation_p.R394H|METAP2_ENST00000551840.1_Missense_Mutation_p.R416H	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44						mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						GCCTTCTGCCGCAGATGGCTG	0.408																																						ENST00000323666.5																			0				endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						c.(1249-1251)cGc>cAc		methionyl aminopeptidase 2	L-Methionine(DB00134)						131.0	125.0	127.0					12																	95907493		2203	4300	6503	SO:0001628	intergenic_variant	10988				N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr12:95907493G>A	AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7			12.37:g.95907493G>A						METAP2_ENST00000546753.1_Missense_Mutation_p.R394H|METAP2_ENST00000261220.9_Missense_Mutation_p.R394H|METAP2_ENST00000551840.1_Missense_Mutation_p.R416H|METAP2_ENST00000550777.1_Missense_Mutation_p.R381H	p.R417H	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN			11	1479	+			417					B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	37	c.1250G>A	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357141	0.82243	.	.	ENSG00000111142	ENST00000323666;ENST00000546753;ENST00000261220;ENST00000550777;ENST00000551840	.	.	.	5.83	4.94	0.65067	Winged helix-turn-helix transcription repressor DNA-binding (1);Peptidase M24, structural domain (2);	0.000000	0.85682	D	0.000000	T	0.61123	0.2322	M	0.87827	2.91	0.80722	D	1	P;D;P;P;P	0.62365	0.919;0.991;0.942;0.924;0.939	B;B;B;B;B	0.37888	0.177;0.248;0.212;0.169;0.26	T	0.72450	-0.4290	9	0.66056	D	0.02	-7.6336	14.9658	0.71193	0.0685:0.0:0.9315:0.0	.	394;381;394;416;417	B4DUX5;F8VRR3;G3XA91;F8VQZ7;P50579	.;.;.;.;AMPM2_HUMAN	H	417;394;394;381;416	.	ENSP00000261220:R394H	R	+	2	0	METAP2	94431624	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	1.474000	0.48178	-0.140000	0.14226	CGC		0.408	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147		20	484	0	0	0	1	0	20	484				
KCND2	3751	broad.mit.edu	37	7	119915439	119915439	+	Silent	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:119915439G>A	ENST00000331113.4	+	1	1718	c.753G>A	c.(751-753)gcG>gcA	p.A251A		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	251					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TGGCTGCAGCGCCTAGTCGTT	0.532																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(751-753)gcG>gcA		potassium voltage-gated channel, Shal-related subfamily, member 2							184.0	152.0	163.0					7																	119915439		2203	4300	6503	SO:0001819	synonymous_variant	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915439G>A	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.753G>A	7.37:g.119915439G>A							p.A251A	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			1	1718	+	all_neural(327;0.117)		251					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	c.753G>A	CCDS5776.1																																																																																				0.532	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		191	202	0	0	0	1	0	191	202				
FAM110B	90362	broad.mit.edu	37	8	59059480	59059480	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr8:59059480G>A	ENST00000361488.3	+	5	1571	c.691G>A	c.(691-693)Gca>Aca	p.A231T	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	231						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GCCCAAAATCGCAGCCATCGC	0.627																																						ENST00000361488.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26						c.(691-693)Gca>Aca		family with sequence similarity 110, member B							79.0	86.0	83.0					8																	59059480		2203	4300	6503	SO:0001583	missense	90362					microtubule organizing center|mitochondrion|nucleus		g.chr8:59059480G>A	U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"""chromosome 8 open reading frame 72"""	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.691G>A	8.37:g.59059480G>A	ENSP00000355204:p.Ala231Thr					FAM110B_ENST00000520369.1_Intron	p.A231T	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN			5	1571	+		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)	231					Q5BM08|Q9Y4K2	Missense_Mutation	SNP	ENST00000361488.3	37	c.691G>A	CCDS6170.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.379087	0.24944	.	.	ENSG00000169122	ENST00000361488	T	0.32753	1.44	5.39	3.53	0.40419	.	0.173925	0.49916	D	0.000131	T	0.18923	0.0454	L	0.27053	0.805	0.49915	D	0.99983	B	0.28783	0.222	B	0.21151	0.033	T	0.04693	-1.0933	9	.	.	.	-21.918	11.0802	0.48055	0.071:0.1292:0.7998:0.0	.	231	Q8TC76	F110B_HUMAN	T	231	ENSP00000355204:A231T	.	A	+	1	0	FAM110B	59222034	0.787000	0.28750	0.085000	0.20634	0.662000	0.39071	1.322000	0.33689	0.582000	0.29556	0.561000	0.74099	GCA		0.627	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2	NM_147189		20	417	0	0	0	1	0	20	417				
NFIB	4781	broad.mit.edu	37	9	14120485	14120485	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:14120485T>C	ENST00000380959.3	-	8	1672	c.1199A>G	c.(1198-1200)aAg>aGg	p.K400R	NFIB_ENST00000397575.3_Missense_Mutation_p.K400R|NFIB_ENST00000397579.2_Missense_Mutation_p.K400R|NFIB_ENST00000380924.1_Missense_Mutation_p.K148R|NFIB_ENST00000397581.2_Missense_Mutation_p.K400R|NFIB_ENST00000380953.1_Missense_Mutation_p.K400R|NFIB_ENST00000543693.1_Missense_Mutation_p.K148R|NFIB_ENST00000380934.4_Missense_Mutation_p.K426R	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	400					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		TACATAGTTCTTCAGAGTATC	0.443			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																Esophageal Squamous(132;921 1730 14828 40753 46471)	ENST00000380959.3				Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	"""MYB, HGMA2"""		"""adenoid cystic carcinoma, lipoma"""		0				central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17						c.(1198-1200)aAg>aGg		nuclear factor I/B							219.0	214.0	216.0					9																	14120485		2203	4300	6503	SO:0001583	missense	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14120485T>C	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.1199A>G	9.37:g.14120485T>C	ENSP00000370346:p.Lys400Arg					NFIB_ENST00000543693.1_Missense_Mutation_p.K148R|NFIB_ENST00000380953.1_Missense_Mutation_p.K400R|NFIB_ENST00000397579.2_Missense_Mutation_p.K400R|NFIB_ENST00000380924.1_Missense_Mutation_p.K148R|NFIB_ENST00000380934.4_Missense_Mutation_p.K426R|NFIB_ENST00000397581.2_Missense_Mutation_p.K400R|NFIB_ENST00000397575.3_Missense_Mutation_p.K400R	p.K400R	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	8	1672	-			400					G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Missense_Mutation	SNP	ENST00000380959.3	37	c.1199A>G	CCDS6474.1	.	.	.	.	.	.	.	.	.	.	T	19.88	3.908578	0.72868	.	.	ENSG00000147862	ENST00000380934;ENST00000380959;ENST00000380953;ENST00000397575;ENST00000397581;ENST00000397579;ENST00000543693;ENST00000380924	T;T;T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.70727	0.3257	M	0.65677	2.01	0.58432	D	0.999995	D;D;D;P	0.63046	0.992;0.979;0.979;0.927	P;D;D;D	0.71414	0.814;0.973;0.973;0.953	T	0.74057	-0.3787	10	0.87932	D	0	.	15.9584	0.79906	0.0:0.0:0.0:1.0	.	400;400;400;148	Q5VW27;Q5VW29;O00712;G3V1P1	.;.;NFIB_HUMAN;.	R	426;400;400;400;400;400;148;148	ENSP00000370321:K426R;ENSP00000370346:K400R;ENSP00000370340:K400R;ENSP00000380705:K400R;ENSP00000380711:K400R;ENSP00000380709:K400R;ENSP00000442888:K148R;ENSP00000370311:K148R	ENSP00000370311:K148R	K	-	2	0	NFIB	14110485	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.331000	0.79192	2.165000	0.68154	0.528000	0.53228	AAG		0.443	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596		12	557	0	0	0	1	0	12	557				
CEMIP	57214	broad.mit.edu	37	15	81172080	81172080	+	Missense_Mutation	SNP	G	G	A	rs368282778		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr15:81172080G>A	ENST00000394685.3	+	5	684	c.265G>A	c.(265-267)Gac>Aac	p.D89N	KIAA1199_ENST00000220244.3_Missense_Mutation_p.D89N|KIAA1199_ENST00000356249.5_Missense_Mutation_p.D89N			Q8WUJ3	CEMIP_HUMAN		89	G8. {ECO:0000255|PROSITE- ProRule:PRU00817}.				hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TAAAGACCACGACGAGCCGAT	0.517																																						ENST00000394685.3																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(265-267)Gac>Aac		KIAA1199		G	ASN/ASP	0,4406		0,0,2203	77.0	68.0	71.0		265	0.0	0.0	15		71	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIAA1199	NM_018689.1	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	89/1362	81172080	1,13005	2203	4300	6503	SO:0001583	missense	57214							g.chr15:81172080G>A																												ENST00000394685.3:c.265G>A	15.37:g.81172080G>A	ENSP00000378177:p.Asp89Asn					KIAA1199_ENST00000356249.5_Missense_Mutation_p.D89N|KIAA1199_ENST00000220244.3_Missense_Mutation_p.D89N	p.D89N			Q8WUJ3	K1199_HUMAN			5	684	+			89			G8.		Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	c.265G>A	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	G	0.798	-0.756286	0.03019	0.0	1.16E-4	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	T;T;T	0.66638	-0.22;-0.22;-0.22	6.03	0.00685	0.14068	G8 domain (2);	2.233560	0.01663	N	0.025226	T	0.51329	0.1668	N	0.26130	0.795	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.18999	-1.0319	10	0.20046	T	0.44	-0.1704	5.3568	0.16065	0.2287:0.1224:0.5557:0.0932	.	89	Q8WUJ3	K1199_HUMAN	N	89	ENSP00000220244:D89N;ENSP00000378177:D89N;ENSP00000348583:D89N	ENSP00000220244:D89N	D	+	1	0	KIAA1199	78959135	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.446000	0.21694	0.085000	0.17107	-1.731000	0.00696	GAC		0.517	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			89	292	0	0	0	1	0	89	292				
IDO2	169355	broad.mit.edu	37	8	39872943	39872943	+	Missense_Mutation	SNP	C	C	G	rs143841632		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr8:39872943C>G	ENST00000389060.4	+	10	1046	c.1046C>G	c.(1045-1047)aCc>aGc	p.T349S	IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000502986.2_Missense_Mutation_p.T362S			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	349					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TATCACATCACCATGGTCACC	0.547																																						ENST00000502986.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						c.(1084-1086)aCc>aGc		indoleamine 2,3-dioxygenase 2							83.0	82.0	82.0					8																	39872943		2083	4198	6281	SO:0001583	missense	169355				tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39872943C>G	AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"""indoleamine-pyrrole 2,3 dioxygenase-like 1"""	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.1046C>G	8.37:g.39872943C>G	ENSP00000426447:p.Thr349Ser					IDO2_ENST00000389060.4_Missense_Mutation_p.T349S|IDO2_ENST00000343295.4_3'UTR	p.T362S	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN			11	1327	+			349					A4UD41	Missense_Mutation	SNP	ENST00000389060.4	37	c.1085C>G		.	.	.	.	.	.	.	.	.	.	C	1.597	-0.527460	0.04141	.	.	ENSG00000188676	ENST00000502986;ENST00000389060	T;T	0.40476	1.03;1.03	5.91	0.612	0.17591	.	0.601453	0.17696	N	0.165097	T	0.23611	0.0571	N	0.17278	0.47	0.09310	N	1	B;B	0.31351	0.228;0.32	B;B	0.37387	0.121;0.248	T	0.14448	-1.0472	9	.	.	.	.	4.375	0.11267	0.3395:0.3871:0.2036:0.0698	.	362;349	F5H5G0;Q6ZQW0	.;I23O2_HUMAN	S	362;349	ENSP00000443432:T362S;ENSP00000426447:T349S	.	T	+	2	0	IDO2	39992100	0.000000	0.05858	0.005000	0.12908	0.705000	0.40729	0.010000	0.13242	0.741000	0.32674	0.655000	0.94253	ACC		0.547	IDO2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372742.1	NM_194294		5	247	0	0	0	1	0	5	247				
SLCO3A1	28232	broad.mit.edu	37	15	92459385	92459385	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr15:92459385G>A	ENST00000318445.6	+	2	557	c.343G>A	c.(343-345)Gtc>Atc	p.V115I	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.V115I	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	115					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)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	CGGCGGCATCGTCATGGCGCT	0.706																																						ENST00000318445.6																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(343-345)Gtc>Atc		solute carrier organic anion transporter family, member 3A1							14.0	13.0	14.0					15																	92459385		2136	4177	6313	SO:0001583	missense	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92459385G>A	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.343G>A	15.37:g.92459385G>A	ENSP00000320634:p.Val115Ile					SLCO3A1_ENST00000424469.2_Missense_Mutation_p.V115I	p.V115I	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		2	557	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		115					A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	c.343G>A	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816791	0.32145	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000553304	T;T;T	0.79940	-1.32;-1.32;0.38	5.22	5.22	0.72569	Major facilitator superfamily domain, general substrate transporter (1);	0.123638	0.53938	D	0.000050	T	0.64091	0.2567	N	0.21617	0.685	0.80722	D	1	B;P;B	0.35011	0.054;0.48;0.046	B;B;B	0.24394	0.01;0.043;0.053	T	0.66508	-0.5906	10	0.02654	T	1	.	18.1361	0.89619	0.0:0.0:1.0:0.0	.	57;115;115	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	I	115;115;57	ENSP00000320634:V115I;ENSP00000387846:V115I;ENSP00000450559:V57I	ENSP00000320634:V115I	V	+	1	0	SLCO3A1	90260389	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.108000	0.71522	2.612000	0.88384	0.655000	0.94253	GTC		0.706	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		4	70	0	0	0	1	0	4	70				
MTOR	2475	broad.mit.edu	37	1	11291104	11291104	+	Missense_Mutation	SNP	C	C	T	rs376873727		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:11291104C>T	ENST00000361445.4	-	18	2733	c.2657G>A	c.(2656-2658)cGt>cAt	p.R886H		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	886					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CCCTAACACACGGATGGCCTG	0.478																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(2656-2658)cGt>cAt		mechanistic target of rapamycin (serine/threonine kinase)		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	109.0	108.0	108.0		2657	5.8	1.0	1		108	0,8600		0,0,4300	no	missense	MTOR	NM_004958.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	886/2550	11291104	1,13005	2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11291104C>T	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.2657G>A	1.37:g.11291104C>T	ENSP00000354558:p.Arg886His						p.R886H	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			18	2733	-			886					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.2657G>A	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	34	5.388243	0.95988	2.27E-4	0.0	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.66280	-0.2	5.84	5.84	0.93424	Domain of unknown function DUF3385,  target of rapamycin protein (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82435	0.5036	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.84197	0.0448	10	0.87932	D	0	-15.8809	20.1346	0.98019	0.0:1.0:0.0:0.0	.	886	P42345	MTOR_HUMAN	H	886	ENSP00000354558:R886H	ENSP00000354558:R886H	R	-	2	0	MTOR	11213691	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.381000	0.79718	2.765000	0.95021	0.655000	0.94253	CGT		0.478	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		87	213	0	0	0	1	0	87	213				
LINC01317	104355287	broad.mit.edu	37	2	33952796	33952796	+	lincRNA	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:33952796C>T	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							CAAGGGGAAGCGGGCCTGGGA	0.592																																						ENST00000366209.2																			0																																																			0							g.chr2:33952796C>T																													2.37:g.33952796C>T						MYADML_ENST00000474610.1_RNA								0	68	+									RNA	SNP	ENST00000366209.2	37																																																																																						0.592	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	lincRNA	OTTHUMT00000325406.1			51	74	0	0	0	1	0	51	74				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																0							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			6	245	0	0	0	1	0	6	245				
ARID3B	10620	broad.mit.edu	37	15	74883672	74883672	+	Silent	SNP	T	T	C	rs199931788		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr15:74883672T>C	ENST00000346246.5	+	6	1293	c.1062T>C	c.(1060-1062)ctT>ctC	p.L354L		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	354	Interaction with RB1.					nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.L354L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CCCCTGCCCTTCTCTCCCCAC	0.647																																						ENST00000346246.5																			1	Substitution - coding silent(1)	p.L354L(1)	lung(1)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						c.(1060-1062)ctT>ctC		AT rich interactive domain 3B (BRIGHT-like)							48.0	57.0	54.0					15																	74883672		2197	4295	6492	SO:0001819	synonymous_variant	10620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr15:74883672T>C		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.1062T>C	15.37:g.74883672T>C							p.L354L	NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN			6	1293	+			354			Interaction with RB1.		O95443|Q59HC9|Q6P9C9	Silent	SNP	ENST00000346246.5	37	c.1062T>C	CCDS10264.1																																																																																				0.647	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		6	499	0	0	0	1	0	6	499				
PLPPR5	163404	broad.mit.edu	37	1	99418649	99418649	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:99418649C>G	ENST00000263177.4	-	3	819	c.598G>C	c.(598-600)Gtc>Ctc	p.V200L	LPPR5_ENST00000370188.3_Missense_Mutation_p.V200L	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		200						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										GCTGCATAGACACTGAGAGCT	0.388																																						ENST00000370188.3																			0											c.(598-600)Gtc>Ctc									117.0	107.0	110.0					1																	99418649		2203	4300	6503	SO:0001583	missense	0					integral to membrane	hydrolase activity	g.chr1:99418649C>G																												ENST00000263177.4:c.598G>C	1.37:g.99418649C>G	ENSP00000263177:p.Val200Leu					LPPR5_ENST00000263177.4_Missense_Mutation_p.V200L	p.V200L	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN			3	958	-			200					A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	ENST00000263177.4	37	c.598G>C	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	C	8.935	0.964341	0.18583	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.74947	-0.89;-0.89	5.16	5.16	0.70880	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.334286	0.31507	N	0.007527	T	0.42966	0.1226	N	0.25380	0.74	0.36488	D	0.86823	B;B	0.06786	0.0;0.001	B;B	0.12837	0.005;0.008	T	0.31392	-0.9945	10	0.13853	T	0.58	.	11.4555	0.50179	0.0:0.9074:0.0:0.0926	.	200;200	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	L	200	ENSP00000359207:V200L;ENSP00000263177:V200L	ENSP00000263177:V200L	V	-	1	0	AL161744.1	99191237	0.024000	0.19004	1.000000	0.80357	0.982000	0.71751	0.342000	0.19926	2.563000	0.86464	0.655000	0.94253	GTC		0.388	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			9	213	0	0	0	1	0	9	213				
SLC25A36	55186	broad.mit.edu	37	3	140689817	140689817	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr3:140689817G>A	ENST00000324194.6	+	5	602	c.434G>A	c.(433-435)cGg>cAg	p.R145Q	SLC25A36_ENST00000446041.2_Missense_Mutation_p.R145Q|SLC25A36_ENST00000453248.2_Missense_Mutation_p.R119Q|RP11-231L11.3_ENST00000513802.1_RNA			Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	145					response to estradiol (GO:0032355)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						ATAAAGACTCGGTTACAGCTT	0.308																																						ENST00000446041.2																			0				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						c.(433-435)cGg>cAg		solute carrier family 25 (pyrimidine nucleotide carrier ), member 36							78.0	77.0	78.0					3																	140689817		2203	4299	6502	SO:0001583	missense	55186				response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr3:140689817G>A	AK001480	CCDS3114.1, CCDS46927.1	3q23	2013-05-22	2012-03-29		ENSG00000114120	ENSG00000114120		"""Solute carriers"""	25554	protein-coding gene	gene with protein product			"""solute carrier family 25, member 36"""				Standard	NM_001104647		Approved	FLJ10618, PNC2	uc003etr.2	Q96CQ1	OTTHUMG00000160260	ENST00000324194.6:c.434G>A	3.37:g.140689817G>A	ENSP00000320688:p.Arg145Gln					SLC25A36_ENST00000324194.6_Missense_Mutation_p.R145Q|SLC25A36_ENST00000453248.2_Missense_Mutation_p.R119Q	p.R145Q	NM_001104647.1|NM_018155.2	NP_001098117.1|NP_060625.2	Q96CQ1	S2536_HUMAN			5	659	+			145					A8MYF7|Q05CY1|Q9H0G8|Q9NVN5	Missense_Mutation	SNP	ENST00000324194.6	37	c.434G>A	CCDS46927.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863607	0.91511	.	.	ENSG00000114120	ENST00000446041;ENST00000324194;ENST00000453248	D;D;D	0.84146	-1.81;-1.81;-1.81	5.66	4.79	0.61399	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.93167	0.7824	M	0.90309	3.105	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.982;0.969;0.997	D	0.94201	0.7450	10	0.87932	D	0	-13.742	12.8872	0.58051	0.0795:0.0:0.9205:0.0	.	119;145;145	B4DL01;Q96CQ1-3;Q96CQ1	.;.;S2536_HUMAN	Q	145;145;119	ENSP00000401938:R145Q;ENSP00000320688:R145Q;ENSP00000391521:R119Q	ENSP00000320688:R145Q	R	+	2	0	SLC25A36	142172507	1.000000	0.71417	0.985000	0.45067	0.990000	0.78478	9.813000	0.99286	1.529000	0.49120	-0.150000	0.13652	CGG		0.308	SLC25A36-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359929.1	NM_018155		27	248	0	0	0	1	0	27	248				
ZCCHC4	29063	broad.mit.edu	37	4	25366651	25366651	+	Silent	SNP	C	C	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr4:25366651C>A	ENST00000302874.4	+	12	1293	c.1269C>A	c.(1267-1269)atC>atA	p.I423I		NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	423							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				CAGCCTGGATCCACTGTAGCA	0.368																																						ENST00000302874.4																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9						c.(1267-1269)atC>atA		zinc finger, CCHC domain containing 4							126.0	111.0	116.0					4																	25366651		1880	4109	5989	SO:0001819	synonymous_variant	29063						methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr4:25366651C>A	AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"""Zinc fingers, CCHC domain containing"""	22917	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 4"""	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.1269C>A	4.37:g.25366651C>A							p.I423I	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN			12	1293	+		Breast(46;0.0503)	423					B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Silent	SNP	ENST00000302874.4	37	c.1269C>A	CCDS43218.1	.	.	.	.	.	.	.	.	.	.	C	9.229	1.035334	0.19590	.	.	ENSG00000168228	ENST00000505412	.	.	.	5.63	3.59	0.41128	.	.	.	.	.	T	0.46483	0.1395	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41910	-0.9482	4	.	.	.	-16.2181	2.9404	0.05828	0.0:0.4847:0.2725:0.2428	.	.	.	.	T	288	.	.	P	+	1	0	ZCCHC4	24975749	0.334000	0.24739	1.000000	0.80357	0.990000	0.78478	0.213000	0.17521	1.340000	0.45581	0.591000	0.81541	CCA		0.368	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1			16	422	1	0	3.32936e-07	1	3.52799e-07	16	422				
ZNF563	147837	broad.mit.edu	37	19	12429722	12429722	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:12429722T>C	ENST00000293725.5	-	4	1322	c.1117A>G	c.(1117-1119)Acg>Gcg	p.T373A		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	373					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(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TGAGATAACGTTTTCCCACAC	0.413																																					GBM(39;623 795 5132 29510 31476)	ENST00000293725.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1117-1119)Acg>Gcg		zinc finger protein 563							191.0	181.0	184.0					19																	12429722		2203	4300	6503	SO:0001583	missense	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12429722T>C	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.1117A>G	19.37:g.12429722T>C	ENSP00000293725:p.Thr373Ala						p.T373A	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN			4	1322	-			373					B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	c.1117A>G	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.253024	0.00268	.	.	ENSG00000188868	ENST00000293725	T	0.03745	3.82	1.0	-1.65	0.08291	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01320	0.0043	N	0.05259	-0.085	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45963	-0.9225	9	0.02654	T	1	.	2.3025	0.04165	0.3613:0.2701:0.0:0.3686	.	373	Q8TA94	ZN563_HUMAN	A	373	ENSP00000293725:T373A	ENSP00000293725:T373A	T	-	1	0	ZNF563	12290722	0.000000	0.05858	0.003000	0.11579	0.233000	0.25261	-3.012000	0.00647	-0.501000	0.06605	-0.765000	0.03448	ACG		0.413	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		6	658	0	0	0	1	0	6	658				
PLPPR4	9890	broad.mit.edu	37	1	99771763	99771763	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:99771763C>T	ENST00000370185.3	+	7	1986	c.1489C>T	c.(1489-1491)Cct>Tct	p.P497S	LPPR4_ENST00000457765.1_Missense_Mutation_p.P439S|LPPR4_ENST00000370184.1_Missense_Mutation_p.P339S	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		497					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CCACCATGGTCCTGGCAATCA	0.562																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(1489-1491)Cct>Tct									152.0	153.0	153.0					1																	99771763		2203	4300	6503	SO:0001583	missense	0						phosphatidate phosphatase activity	g.chr1:99771763C>T																												ENST00000370185.3:c.1489C>T	1.37:g.99771763C>T	ENSP00000359204:p.Pro497Ser					LPPR4_ENST00000457765.1_Missense_Mutation_p.P439S|LPPR4_ENST00000370184.1_Missense_Mutation_p.P339S	p.P497S	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	1986	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	497					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.1489C>T	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.448634	0.26074	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.23754	2.45;2.41;1.89	5.7	5.7	0.88788	.	0.165318	0.56097	D	0.000039	T	0.34048	0.0884	L	0.47716	1.5	0.58432	D	0.999999	D;D	0.63046	0.975;0.992	P;P	0.61477	0.796;0.889	T	0.00819	-1.1553	9	.	.	.	-20.1204	19.8311	0.96636	0.0:1.0:0.0:0.0	.	439;497	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	S	497;439;497;339	ENSP00000359204:P497S;ENSP00000394913:P439S;ENSP00000359203:P339S	.	P	+	1	0	RP4-788L13.1	99544351	0.993000	0.37304	0.442000	0.26870	0.082000	0.17680	3.465000	0.53064	2.681000	0.91329	0.650000	0.86243	CCT		0.562	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			13	624	0	0	0	1	0	13	624				
ROBO3	64221	broad.mit.edu	37	11	124740169	124740169	+	Missense_Mutation	SNP	G	G	A	rs199762736		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr11:124740169G>A	ENST00000397801.1	+	5	1067	c.875G>A	c.(874-876)cGc>cAc	p.R292H	ROBO3_ENST00000538940.1_Missense_Mutation_p.R270H	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	292	Ig-like C2-type 3.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CTACGCTGGCGCAAGGAGGAT	0.577																																						ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(874-876)cGc>cAc		roundabout, axon guidance receptor, homolog 3 (Drosophila)							51.0	52.0	51.0					11																	124740169		1960	4142	6102	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124740169G>A	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.875G>A	11.37:g.124740169G>A	ENSP00000380903:p.Arg292His					ROBO3_ENST00000538940.1_Missense_Mutation_p.R270H	p.R292H	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	5	1067	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	292			Ig-like C2-type 3.			Missense_Mutation	SNP	ENST00000397801.1	37	c.875G>A	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192650	0.78902	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.30182	1.54;1.54	4.92	4.92	0.64577	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37304	N	0.002149	T	0.48390	0.1497	L	0.41356	1.27	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.44498	-0.9324	10	0.51188	T	0.08	.	18.0733	0.89419	0.0:0.0:1.0:0.0	.	292	Q96MS0	ROBO3_HUMAN	H	292;270	ENSP00000380903:R292H;ENSP00000441797:R270H	ENSP00000380903:R292H	R	+	2	0	ROBO3	124245379	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	2.676000	0.46883	2.447000	0.82792	0.462000	0.41574	CGC		0.577	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		35	94	0	0	0	1	0	35	94				
RASGRF2	5924	broad.mit.edu	37	5	80408515	80408515	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:80408515C>T	ENST00000265080.4	+	14	1992	c.1925C>T	c.(1924-1926)gCc>gTc	p.A642V	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	642	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ATCCGTTATGCCAGCGTGGAG	0.483																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1924-1926)gCc>gTc		Ras protein-specific guanine nucleotide-releasing factor 2							195.0	191.0	193.0					5																	80408515		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80408515C>T	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1925C>T	5.37:g.80408515C>T	ENSP00000265080:p.Ala642Val						p.A642V	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	14	1992	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	642			N-terminal Ras-GEF.		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.1925C>T	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	C	35	5.456331	0.96223	.	.	ENSG00000113319	ENST00000265080	T	0.55588	0.51	5.79	5.79	0.91817	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.76040	0.3932	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78071	-0.2347	10	0.87932	D	0	.	19.684	0.95974	0.0:1.0:0.0:0.0	.	642	O14827	RGRF2_HUMAN	V	642	ENSP00000265080:A642V	ENSP00000265080:A642V	A	+	2	0	RASGRF2	80444271	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.758000	0.85224	2.752000	0.94435	0.558000	0.71614	GCC		0.483	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		6	987	0	0	0	1	0	6	987				
DMWD	1762	broad.mit.edu	37	19	46289829	46289829	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:46289829G>A	ENST00000270223.6	-	3	970	c.925C>T	c.(925-927)Cgc>Tgc	p.R309C	DMWD_ENST00000377735.3_Missense_Mutation_p.R309C|AC011530.4_ENST00000593999.1_5'Flank|DMWD_ENST00000601370.1_5'Flank	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	309										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		TGGAAGACGCGCAGGCAGCCA	0.667																																						ENST00000270223.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(925-927)Cgc>Tgc		dystrophia myotonica, WD repeat containing							40.0	45.0	43.0					19																	46289829		2203	4300	6503	SO:0001583	missense	1762				meiosis			g.chr19:46289829G>A	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"""WD repeat domain containing"""	2936	protein-coding gene	gene with protein product		609857	"""dystrophia myotonica-containing WD repeat motif"""			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.925C>T	19.37:g.46289829G>A	ENSP00000270223:p.Arg309Cys					DMWD_ENST00000377735.3_Missense_Mutation_p.R309C	p.R309C	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)	3	970	-		Ovarian(192;0.0308)|all_neural(266;0.112)	309						Missense_Mutation	SNP	ENST00000270223.6	37	c.925C>T	CCDS33054.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143767	0.77888	.	.	ENSG00000185800	ENST00000377735;ENST00000270223	T;T	0.68025	-0.3;-0.3	3.75	3.75	0.43078	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	D	0.83658	0.5302	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.87318	0.2316	10	0.87932	D	0	-22.9342	13.4383	0.61096	0.0:0.0:1.0:0.0	.	309;309	G5E9A7;Q09019	.;DMWD_HUMAN	C	309	ENSP00000366964:R309C;ENSP00000270223:R309C	ENSP00000270223:R309C	R	-	1	0	DMWD	50981669	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	6.303000	0.72794	2.129000	0.65627	0.407000	0.27541	CGC		0.667	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943		6	161	0	0	0	1	0	6	161				
KLKB1	3818	broad.mit.edu	37	4	187172778	187172778	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr4:187172778C>T	ENST00000264690.6	+	9	1193	c.1006C>T	c.(1006-1008)Ctc>Ttc	p.L336F	KLKB1_ENST00000513864.1_Missense_Mutation_p.L336F	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	336	Apple 4. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TTATTCTTTACTCCCAGAAGA	0.368																																						ENST00000264690.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40						c.(1006-1008)Ctc>Ttc		kallikrein B, plasma (Fletcher factor) 1							84.0	91.0	88.0					4																	187172778		2195	4297	6492	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187172778C>T	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.1006C>T	4.37:g.187172778C>T	ENSP00000264690:p.Leu336Phe					KLKB1_ENST00000513864.1_Missense_Mutation_p.L336F	p.L336F	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	9	1193	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	336			Apple 4.		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.1006C>T	CCDS34120.1	.	.	.	.	.	.	.	.	.	.	c	0.059	-1.230060	0.01518	.	.	ENSG00000164344	ENST00000264690;ENST00000513864;ENST00000418715	D;D	0.88896	-2.44;-2.44	5.07	2.37	0.29283	Apple domain (2);PAN-1 domain (1);Apple-like (1);	0.331044	0.26345	N	0.024913	T	0.75796	0.3898	L	0.29908	0.895	0.09310	N	1	B;B;B	0.15141	0.012;0.005;0.007	B;B;B	0.15484	0.012;0.013;0.012	T	0.55276	-0.8166	10	0.09843	T	0.71	.	2.2207	0.03971	0.1213:0.4321:0.2365:0.2101	.	298;336;336	E7EQA8;A8K9A9;P03952	.;.;KLKB1_HUMAN	F	336;336;298	ENSP00000264690:L336F;ENSP00000424469:L336F	ENSP00000264690:L336F	L	+	1	0	KLKB1	187409772	0.000000	0.05858	0.250000	0.24296	0.109000	0.19521	0.094000	0.15107	0.251000	0.21505	-0.187000	0.12897	CTC		0.368	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		41	374	0	0	0	1	0	41	374				
LOXL3	84695	broad.mit.edu	37	2	74763164	74763164	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:74763164C>T	ENST00000264094.3	-	7	1278	c.1207G>A	c.(1207-1209)Ggg>Agg	p.G403R	LOXL3_ENST00000393937.2_Missense_Mutation_p.G258R|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409549.1_Missense_Mutation_p.G403R|LOXL3_ENST00000409986.1_Missense_Mutation_p.G258R	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	403	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CACCGGACCCCGGCATCCTGG	0.562																																						ENST00000264094.3																			0				endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(1207-1209)Ggg>Agg		lysyl oxidase-like 3							96.0	94.0	95.0					2																	74763164		2203	4300	6503	SO:0001583	missense	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74763164C>T	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1207G>A	2.37:g.74763164C>T	ENSP00000264094:p.Gly403Arg					LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409549.1_Missense_Mutation_p.G403R|LOXL3_ENST00000393937.2_Missense_Mutation_p.G258R|LOXL3_ENST00000409986.1_Missense_Mutation_p.G258R	p.G403R	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN			7	1278	-			403			SRCR 3.		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	ENST00000264094.3	37	c.1207G>A	CCDS1953.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.88|12.88	2.069595|2.069595	0.36470|0.36470	.|.	.|.	ENSG00000115318|ENSG00000115318	ENST00000264094;ENST00000393937;ENST00000409549;ENST00000409986|ENST00000420535	T;T;T;T|.	0.39406|.	1.08;1.08;1.08;1.08|.	5.09|5.09	5.09|5.09	0.68999|0.68999	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);|.	0.488804|.	0.21919|.	N|.	0.067182|.	T|T	0.80691|0.80691	0.4671|0.4671	H|H	0.96301|0.96301	3.8|3.8	0.18873|0.18873	N|N	0.999985|0.999985	D;D;P;P|.	0.56968|.	0.978;0.968;0.948;0.504|.	D;D;P;B|.	0.64237|.	0.909;0.923;0.884;0.222|.	T|T	0.76002|0.76002	-0.3118|-0.3118	10|5	0.87932|.	D|.	0|.	.|.	16.3805|16.3805	0.83460|0.83460	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	258;403;258;403|.	B9A025;E7END4;Q6IPL7;P58215|.	.;.;.;LOXL3_HUMAN|.	R|Q	403;258;403;258|129	ENSP00000264094:G403R;ENSP00000377512:G258R;ENSP00000386696:G403R;ENSP00000386545:G258R|.	ENSP00000264094:G403R|.	G|R	-|-	1|2	0|0	LOXL3|LOXL3	74616672|74616672	0.073000|0.073000	0.21202|0.21202	0.026000|0.026000	0.17262|0.17262	0.680000|0.680000	0.39746|0.39746	3.592000|3.592000	0.53993|0.53993	2.806000|2.806000	0.96561|0.96561	0.551000|0.551000	0.68910|0.68910	GGG|CGG		0.562	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		11	381	0	0	0	1	0	11	381				
TGM4	7047	broad.mit.edu	37	3	44932185	44932185	+	Nonsense_Mutation	SNP	G	G	T	rs56944783		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr3:44932185G>T	ENST00000296125.4	+	4	459	c.391G>T	c.(391-393)Gaa>Taa	p.E131*		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	131					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TAAGTCTGAAGAAAACATCCT	0.493																																						ENST00000296125.4																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(391-393)Gaa>Taa		transglutaminase 4	L-Glutamine(DB00130)						145.0	123.0	130.0					3																	44932185		2203	4300	6503	SO:0001587	stop_gained	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44932185G>T	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.391G>T	3.37:g.44932185G>T	ENSP00000296125:p.Glu131*						p.E131*	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	4	459	+			131					Q16707|Q96QN4	Nonsense_Mutation	SNP	ENST00000296125.4	37	c.391G>T	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795916	0.50208	.	.	ENSG00000163810	ENST00000296125	.	.	.	2.28	1.35	0.21983	.	17.102400	0.01350	U	0.011886	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	3.3803	0.07252	0.3568:0.0:0.6432:0.0	.	.	.	.	X	131	.	ENSP00000296125:E131X	E	+	1	0	TGM4	44907189	0.001000	0.12720	0.006000	0.13384	0.068000	0.16541	1.064000	0.30579	1.213000	0.43380	0.460000	0.39030	GAA		0.493	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		5	248	1	0	0.000602214	1	0.000613732	5	248				
PRG4	10216	broad.mit.edu	37	1	186276229	186276229	+	Missense_Mutation	SNP	A	A	G	rs200751463		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:186276229A>G	ENST00000445192.2	+	7	1423	c.1378A>G	c.(1378-1380)Aca>Gca	p.T460A	PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	460	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T460A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGGAGCCTACACCCACCAC	0.657																																						ENST00000445192.2																			1	Substitution - Missense(1)	p.T460A(1)	lung(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1378-1380)Aca>Gca		proteoglycan 4							86.0	95.0	92.0					1																	186276229		2203	4297	6500	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276229A>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1378A>G	1.37:g.186276229A>G	ENSP00000399679:p.Thr460Ala					PRG4_ENST00000367485.4_Missense_Mutation_p.T367A|PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A	p.T460A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1423	+			460			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1378A>G	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	5.758	0.324291	0.10900	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.03689	3.86;3.95;3.84;3.94	3.89	-1.26	0.09376	.	1.548120	0.04848	N	0.441778	T	0.01254	0.0041	N	0.01188	-0.97	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.45760	-0.9239	9	.	.	.	.	1.0401	0.01557	0.3011:0.1615:0.3744:0.163	.	326;367;460;419	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	A	417;326;419;367;460	ENSP00000356456:T417A;ENSP00000356453:T419A;ENSP00000356455:T367A;ENSP00000399679:T460A	.	T	+	1	0	PRG4	184542852	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.973000	0.00666	-0.043000	0.13513	-1.818000	0.00600	ACA		0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		12	488	0	0	0	1	0	12	488				
SVEP1	79987	broad.mit.edu	37	9	113166756	113166756	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:113166756T>A	ENST00000401783.2	-	39	9853	c.9517A>T	c.(9517-9519)Aga>Tga	p.R3173*	SVEP1_ENST00000374469.1_Nonsense_Mutation_p.R3150*|SVEP1_ENST00000297826.5_Nonsense_Mutation_p.R1099*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3173	Sushi 29. {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						CAGGAGATTCTCTCAGGGAAC	0.423																																						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.(9517-9519)Aga>Tga		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							266.0	259.0	261.0					9																	113166756		1891	4112	6003	SO:0001587	stop_gained	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113166756T>A	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.9517A>T	9.37:g.113166756T>A	ENSP00000384917:p.Arg3173*					SVEP1_ENST00000297826.5_Nonsense_Mutation_p.R1099*|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.R3150*	p.R3173*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			39	9853	-			3173			Sushi 29.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Nonsense_Mutation	SNP	ENST00000401783.2	37	c.9517A>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	T	51	18.088383	0.99899	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	.	.	.	5.76	5.76	0.90799	.	0.591351	0.19779	N	0.106273	.	.	.	.	.	.	0.33875	D	0.635453	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	10.4141	0.44311	0.0:0.0727:0.0:0.9273	.	.	.	.	X	3173;3150;1099	.	ENSP00000297826:R1099X	R	-	1	2	SVEP1	112206577	0.018000	0.18449	0.151000	0.22473	0.097000	0.18754	1.991000	0.40727	2.200000	0.70718	0.482000	0.46254	AGA		0.423	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				8	1212	0	0	0	1	0	8	1212				
PSMG3	84262	broad.mit.edu	37	7	1607453	1607453	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:1607453C>T	ENST00000288607.2	-	2	903	c.250G>A	c.(250-252)Gcg>Acg	p.A84T	PSMG3_ENST00000252329.3_Missense_Mutation_p.A84T|PSMG3-AS1_ENST00000437621.2_lincRNA|PSMG3_ENST00000404674.3_Missense_Mutation_p.A84T	NM_032302.3	NP_115678.1	Q9BT73	PSMG3_HUMAN	proteasome (prosome, macropain) assembly chaperone 3	84										lung(2)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15)		GACACAAACGCTACCAGGTTC	0.498																																						ENST00000288607.2																			0				lung(2)	2						c.(250-252)Gcg>Acg		proteasome (prosome, macropain) assembly chaperone 3							86.0	76.0	79.0					7																	1607453		2203	4300	6503	SO:0001583	missense	84262							g.chr7:1607453C>T	BC027171	CCDS5327.1	7p22.3	2010-07-07	2007-08-16	2007-08-16	ENSG00000157778	ENSG00000157778			22420	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 48"""	C7orf48		17189198	Standard	NM_032302		Approved	MGC10911, PAC3	uc011jvx.1	Q9BT73	OTTHUMG00000119043	ENST00000288607.2:c.250G>A	7.37:g.1607453C>T	ENSP00000288607:p.Ala84Thr					PSMG3_ENST00000252329.3_Missense_Mutation_p.A84T|PSMG3_ENST00000404674.3_Missense_Mutation_p.A84T	p.A84T	NM_032302.3	NP_115678.1	Q9BT73	PSMG3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15)	2	903	-		Ovarian(82;0.11)	84					A4D216|A8MPW2	Missense_Mutation	SNP	ENST00000288607.2	37	c.250G>A	CCDS5327.1	.	.	.	.	.	.	.	.	.	.	C	5.297	0.240137	0.10023	.	.	ENSG00000157778	ENST00000288607;ENST00000404674;ENST00000252329	.	.	.	5.7	1.01	0.19927	.	0.390055	0.26612	N	0.023419	T	0.21307	0.0513	N	0.04132	-0.27	0.39036	D	0.960031	B	0.06786	0.001	B	0.06405	0.002	T	0.10428	-1.0630	9	0.08381	T	0.77	-20.6702	5.3218	0.15885	0.273:0.4792:0.0:0.2477	.	84	Q9BT73	PSMG3_HUMAN	T	84	.	ENSP00000252329:A84T	A	-	1	0	PSMG3	1573979	0.990000	0.36364	0.104000	0.21259	0.979000	0.70002	0.296000	0.19083	-0.063000	0.13065	0.655000	0.94253	GCG		0.498	PSMG3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000239254.2	NM_032302		44	380	0	0	0	1	0	44	380				
LRP1	4035	broad.mit.edu	37	12	57588845	57588845	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr12:57588845G>A	ENST00000243077.3	+	51	8735	c.8269G>A	c.(8269-8271)Gat>Aat	p.D2757N	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2757	LDL-receptor class A 16. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACGGCAGCGATGACTGTGG	0.612																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(8269-8271)Gat>Aat		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						95.0	105.0	102.0					12																	57588845		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57588845G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.8269G>A	12.37:g.57588845G>A	ENSP00000243077:p.Asp2757Asn						p.D2757N	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	51	8735	+			2757			LDL-receptor class A 16.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.8269G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254469	0.59212	.	.	ENSG00000123384	ENST00000243077	D	0.95377	-3.69	4.93	3.11	0.35812	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.94135	0.8119	L	0.31804	0.96	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89897	0.4041	10	0.07175	T	0.84	.	9.8353	0.40966	0.1688:0.0:0.8312:0.0	.	2757	Q07954	LRP1_HUMAN	N	2757	ENSP00000243077:D2757N	ENSP00000243077:D2757N	D	+	1	0	LRP1	55875112	1.000000	0.71417	0.893000	0.35052	0.983000	0.72400	6.568000	0.73987	0.668000	0.31126	0.455000	0.32223	GAT		0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		19	626	0	0	0	1	0	19	626				
LRP1	4035	broad.mit.edu	37	12	57597244	57597244	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr12:57597244C>T	ENST00000243077.3	+	70	11357	c.10891C>T	c.(10891-10893)Cgc>Tgc	p.R3631C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3631	LDL-receptor class A 28. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTGCGCTGGCGCTGTGACGC	0.687																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(10891-10893)Cgc>Tgc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						40.0	36.0	37.0					12																	57597244		2197	4296	6493	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57597244C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.10891C>T	12.37:g.57597244C>T	ENSP00000243077:p.Arg3631Cys						p.R3631C	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	70	11357	+			3631			LDL-receptor class A 28.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.10891C>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.194317	0.38806	.	.	ENSG00000123384	ENST00000243077	D	0.95980	-3.87	4.97	4.09	0.47781	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.076795	0.49305	D	0.000144	D	0.98061	0.9361	H	0.96333	3.805	0.80722	D	1	D	0.76494	0.999	D	0.65323	0.934	D	0.98038	1.0380	10	0.39692	T	0.17	.	12.3944	0.55376	0.0:0.9179:0.0:0.0821	.	3631	Q07954	LRP1_HUMAN	C	3631	ENSP00000243077:R3631C	ENSP00000243077:R3631C	R	+	1	0	LRP1	55883511	1.000000	0.71417	1.000000	0.80357	0.150000	0.21749	3.670000	0.54569	1.346000	0.45694	-0.142000	0.14014	CGC		0.687	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		4	59	0	0	0	1	0	4	59				
ADAMTS2	9509	broad.mit.edu	37	5	178552067	178552067	+	Silent	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:178552067G>A	ENST00000251582.7	-	19	2966	c.2865C>T	c.(2863-2865)caC>caT	p.H955H		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	955	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGTGCTTGGCGTGCACGGAGC	0.692																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2863-2865)caC>caT		ADAM metallopeptidase with thrombospondin type 1 motif, 2							100.0	102.0	101.0					5																	178552067		2203	4300	6503	SO:0001819	synonymous_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178552067G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2865C>T	5.37:g.178552067G>A							p.H955H	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	19	2966	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	955			TSP type-1 3.			Silent	SNP	ENST00000251582.7	37	c.2865C>T	CCDS4444.1																																																																																				0.692	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		8	708	0	0	0	1	0	8	708				
ZNF462	58499	broad.mit.edu	37	9	109691963	109691963	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:109691963C>T	ENST00000277225.5	+	3	6059	c.5770C>T	c.(5770-5772)Cgt>Tgt	p.R1924C	ZNF462_ENST00000497489.1_3'UTR|ZNF462_ENST00000441147.2_Missense_Mutation_p.R769C|ZNF462_ENST00000542028.1_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.R1924C			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1924					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCGTGCCAAACGTCAGGAGAG	0.453																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(5770-5772)Cgt>Tgt		zinc finger protein 462							125.0	114.0	118.0					9																	109691963		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109691963C>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5770C>T	9.37:g.109691963C>T	ENSP00000277225:p.Arg1924Cys					ZNF462_ENST00000457913.1_Missense_Mutation_p.R1924C|ZNF462_ENST00000441147.2_Missense_Mutation_p.R769C|ZNF462_ENST00000497489.1_3'UTR	p.R1924C			Q96JM2	ZN462_HUMAN			3	6059	+			1924					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.5770C>T	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943037	0.53079	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.06218	3.33;3.74;3.83;3.81	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.19087	0.0458	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.00232	-1.1895	10	0.66056	D	0.02	.	20.3207	0.98668	0.0:1.0:0.0:0.0	.	1924;1924	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	C	1924;1924;807;769	ENSP00000277225:R1924C;ENSP00000414570:R1924C;ENSP00000363818:R807C;ENSP00000397306:R769C	ENSP00000277225:R1924C	R	+	1	0	ZNF462	108731784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.792000	0.69052	2.813000	0.96785	0.561000	0.74099	CGT		0.453	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		12	338	0	0	0	1	0	12	338				
GABRE	2564	broad.mit.edu	37	X	151130916	151130916	+	Missense_Mutation	SNP	C	C	T	rs75100154		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chrX:151130916C>T	ENST00000370328.3	-	4	595	c.542G>A	c.(541-543)gGc>gAc	p.G181D	GABRE_ENST00000370325.1_Missense_Mutation_p.G181D|MIR452_ENST00000385020.1_RNA|GABRE_ENST00000393914.3_Missense_Mutation_p.A16T	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	181					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CAACACCTTGCCATCCTTGTA	0.478																																						ENST00000370325.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(541-543)gGc>gAc		gamma-aminobutyric acid (GABA) A receptor, epsilon							125.0	89.0	102.0					X																	151130916		2203	4300	6503	SO:0001583	missense	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151130916C>T	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.542G>A	X.37:g.151130916C>T	ENSP00000359353:p.Gly181Asp					GABRE_ENST00000370328.3_Missense_Mutation_p.G181D|GABRE_ENST00000393914.3_Missense_Mutation_p.A16T	p.G181D			P78334	GBRE_HUMAN			4	595	-	Acute lymphoblastic leukemia(192;6.56e-05)		181					E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.542G>A	CCDS14703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.603111|4.603111	0.87157|0.87157	.|.	.|.	ENSG00000102287|ENSG00000102287	ENST00000393914|ENST00000370328;ENST00000370325	.|D;D	.|0.97378	.|-4.36;-4.36	5.47|5.47	5.47|5.47	0.80525|0.80525	.|Neurotransmitter-gated ion-channel ligand-binding (3);	.|0.000000	.|0.51477	.|D	.|0.000081	D|D	0.98817|0.98817	0.9601|0.9601	M|M	0.93328|0.93328	3.405|3.405	0.33060|0.33060	D|D	0.534013|0.534013	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.99964|0.99964	1.1813|1.1813	6|10	0.49607|0.87932	T|D	0.09|0	.|.	15.663|15.663	0.77203|0.77203	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|181	.|P78334	.|GBRE_HUMAN	T|D	16|181	.|ENSP00000359353:G181D;ENSP00000359350:G181D	ENSP00000377491:A16T|ENSP00000359350:G181D	A|G	-|-	1|2	0|0	GABRE|GABRE	150881572|150881572	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.909000|0.909000	0.53808|0.53808	7.818000|7.818000	0.86416|0.86416	2.295000|2.295000	0.77249|0.77249	0.529000|0.529000	0.55759|0.55759	GCA|GGC		0.478	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		5	142	0	0	0	1	0	5	142				
PDPN	10630	broad.mit.edu	37	1	13910573	13910573	+	Silent	SNP	G	G	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:13910573G>T	ENST00000294489.6	+	1	614	c.273G>T	c.(271-273)tcG>tcT	p.S91S	PDPN_ENST00000487038.1_5'Flank|PDPN_ENST00000513143.1_5'Flank|PDPN_ENST00000376061.4_5'Flank|PDPN_ENST00000509009.1_5'Flank|PDPN_ENST00000475043.1_5'Flank|PDPN_ENST00000376057.4_Silent_p.S91S					podoplanin									p.S91S(1)		endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		GAAGCGCGTCGCTCTGGGTCC	0.612																																						ENST00000294489.6																			1	Substitution - coding silent(1)	p.S91S(1)	large_intestine(1)	endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(271-273)tcG>tcT		podoplanin							41.0	31.0	35.0					1																	13910573		2194	4272	6466	SO:0001819	synonymous_variant	10630				cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane		g.chr1:13910573G>T	AB127958, AY194238	CCDS30602.1, CCDS41266.1, CCDS44060.1, CCDS53270.1	1p36.21	2008-02-05			ENSG00000162493	ENSG00000162493			29602	protein-coding gene	gene with protein product	"""lung type I cell membrane associated glycoprotein"""	608863				10393083, 9651190	Standard	NM_006474		Approved	T1A-2, Gp38, aggrus, GP40, PA2.26	uc001avd.3	Q86YL7	OTTHUMG00000007912	ENST00000294489.6:c.273G>T	1.37:g.13910573G>T						PDPN_ENST00000376057.4_Silent_p.S91S	p.S91S			Q86YL7	PDPN_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)	1	614	+	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	15						Silent	SNP	ENST00000294489.6	37	c.273G>T	CCDS30602.1																																																																																				0.612	PDPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021783.2	NM_006474		8	133	1	0	0.0381472	1	0.0382498	8	133				
KCNH5	27133	broad.mit.edu	37	14	63246448	63246448	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr14:63246448G>A	ENST00000322893.7	-	10	2285	c.2017C>T	c.(2017-2019)Cgg>Tgg	p.R673W	KCNH5_ENST00000394968.1_Missense_Mutation_p.R615W|KCNH5_ENST00000420622.2_Intron	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	673					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.R673W(2)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GAACATACCCGTTTCCTCAGA	0.398																																						ENST00000322893.7																			2	Substitution - Missense(2)	p.R673W(2)	kidney(1)|central_nervous_system(1)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(2017-2019)Cgg>Tgg		potassium voltage-gated channel, subfamily H (eag-related), member 5							111.0	113.0	112.0					14																	63246448		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63246448G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2017C>T	14.37:g.63246448G>A	ENSP00000321427:p.Arg673Trp					KCNH5_ENST00000394968.1_Missense_Mutation_p.R615W|KCNH5_ENST00000420622.2_Intron	p.R673W	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	10	2285	-			673					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.2017C>T	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377770	0.61735	.	.	ENSG00000140015	ENST00000322893;ENST00000394968	T;D	0.99032	2.22;-5.35	5.63	4.67	0.58626	.	0.000000	0.85682	D	0.000000	D	0.99127	0.9699	M	0.69523	2.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99364	1.0918	10	0.72032	D	0.01	.	17.0597	0.86543	0.0:0.0:0.8185:0.1814	.	615;673	Q8NCM2-3;Q8NCM2	.;KCNH5_HUMAN	W	673;615	ENSP00000321427:R673W;ENSP00000378419:R615W	ENSP00000321427:R673W	R	-	1	2	KCNH5	62316201	0.956000	0.32656	1.000000	0.80357	0.980000	0.70556	0.668000	0.25127	2.669000	0.90835	0.591000	0.81541	CGG		0.398	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		8	622	0	0	0	1	0	8	622				
EDA2R	60401	broad.mit.edu	37	X	65824331	65824331	+	Missense_Mutation	SNP	C	C	T	rs192316556		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chrX:65824331C>T	ENST00000374719.3	-	4	340	c.284G>A	c.(283-285)cGc>cAc	p.R95H	EDA2R_ENST00000450752.1_Missense_Mutation_p.R95H|EDA2R_ENST00000456230.2_Missense_Mutation_p.R95H|EDA2R_ENST00000396050.1_Missense_Mutation_p.R95H|EDA2R_ENST00000451436.2_Intron|EDA2R_ENST00000253392.5_Missense_Mutation_p.R95H	NM_021783.3	NP_068555	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	95					cell differentiation (GO:0030154)|embryo development (GO:0009790)|epidermis development (GO:0008544)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GCCTCCAATGCGTGTCTTTCG	0.522													C|||	1	0.000264901	0.0008	0.0	3775	,	,		15546	0.0		0.0	False		,,,				2504	0.0					ENST00000374719.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						c.(283-285)cGc>cAc		ectodysplasin A2 receptor							225.0	151.0	176.0					X																	65824331		2203	4300	6503	SO:0001583	missense	60401				cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity	g.chrX:65824331C>T	AF298812	CCDS14386.1, CCDS56603.1	Xq11.1	2013-05-22			ENSG00000131080	ENSG00000131080		"""Tumor necrosis factor receptor superfamily"""	17756	protein-coding gene	gene with protein product		300276				11039935	Standard	NM_021783		Approved	XEDAR, EDA-A2R, EDAA2R, TNFRSF27	uc004dwt.2	Q9HAV5	OTTHUMG00000021736	ENST00000374719.3:c.284G>A	X.37:g.65824331C>T	ENSP00000363851:p.Arg95His					EDA2R_ENST00000450752.1_Missense_Mutation_p.R95H|EDA2R_ENST00000456230.2_Missense_Mutation_p.R95H|EDA2R_ENST00000253392.5_Missense_Mutation_p.R95H|EDA2R_ENST00000396050.1_Missense_Mutation_p.R95H|EDA2R_ENST00000451436.2_Intron	p.R95H	NM_021783.3	NP_068555.1	Q9HAV5	TNR27_HUMAN			4	340	-			95					Q5VYX9|Q5VYY0|Q6UWM2|Q8IZA6	Missense_Mutation	SNP	ENST00000374719.3	37	c.284G>A	CCDS14386.1	1	6.027727546714888E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.95	3.731684	0.69189	.	.	ENSG00000131080	ENST00000374719;ENST00000396050;ENST00000253392;ENST00000456230;ENST00000450752	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	4.0	4.0	0.46444	.	0.138350	0.31989	U	0.006757	T	0.37348	0.1000	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;P;P	0.66196	0.942;0.765;0.684	T	0.18713	-1.0328	10	0.72032	D	0.01	-1.3296	12.8844	0.58034	0.0:1.0:0.0:0.0	.	95;95;95	Q9HAV5-2;B2RBZ9;Q9HAV5	.;.;TNR27_HUMAN	H	95	ENSP00000363851:R95H;ENSP00000379365:R95H;ENSP00000253392:R95H;ENSP00000393935:R95H;ENSP00000402929:R95H	ENSP00000253392:R95H	R	-	2	0	EDA2R	65741056	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.295000	0.43576	1.584000	0.49913	0.600000	0.82982	CGC		0.522	EDA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057002.1	NM_021783		172	17	0	0	0	1	0	172	17				
IRF8	3394	broad.mit.edu	37	16	85952250	85952250	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr16:85952250G>A	ENST00000268638.5	+	7	1251	c.829G>A	c.(829-831)Ggg>Agg	p.G277R	IRF8_ENST00000562492.1_Missense_Mutation_p.G73R	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	277					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				CCTGGAGCGCGGGGTGCTGCT	0.721																																						ENST00000268638.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(829-831)Ggg>Agg		interferon regulatory factor 8							15.0	19.0	18.0					16																	85952250		2194	4293	6487	SO:0001583	missense	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85952250G>A	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"""interferon consensus sequence binding protein 1"""	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.829G>A	16.37:g.85952250G>A	ENSP00000268638:p.Gly277Arg					IRF8_ENST00000562492.1_Missense_Mutation_p.G73R	p.G277R	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN			7	1251	+		Prostate(104;0.0771)	277					A0AV82	Missense_Mutation	SNP	ENST00000268638.5	37	c.829G>A	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	G	35	5.466666	0.96257	.	.	ENSG00000140968	ENST00000268638	D	0.99888	-7.54	5.1	5.1	0.69264	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.000000	0.85682	D	0.000000	D	0.99904	0.9954	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96270	0.9198	10	0.66056	D	0.02	-39.6172	18.8755	0.92332	0.0:0.0:1.0:0.0	.	277	Q02556	IRF8_HUMAN	R	277	ENSP00000268638:G277R	ENSP00000268638:G277R	G	+	1	0	IRF8	84509751	1.000000	0.71417	0.868000	0.34077	0.984000	0.73092	9.159000	0.94728	2.534000	0.85438	0.650000	0.86243	GGG		0.721	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		9	89	0	0	0	1	0	9	89				
LRRK1	79705	broad.mit.edu	37	15	101606007	101606007	+	Missense_Mutation	SNP	G	G	A	rs536296948		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr15:101606007G>A	ENST00000388948.3	+	32	5724	c.5365G>A	c.(5365-5367)Gtg>Atg	p.V1789M	LRRK1_ENST00000284395.5_Missense_Mutation_p.V1786M|RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000532145.1_3'UTR	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.V1789M(1)|p.V1801M(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CATGTTTCCCGTGCGGCCCTT	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		16930	0.0		0.0	False		,,,				2504	0.001					ENST00000284395.5																			2	Substitution - Missense(2)	p.V1789M(1)|p.V1801M(1)	kidney(2)	breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(5356-5358)Gtg>Atg		leucine-rich repeat kinase 1							45.0	53.0	51.0					15																	101606007		2027	4177	6204	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101606007G>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.5365G>A	15.37:g.101606007G>A	ENSP00000373600:p.Val1789Met					LRRK1_ENST00000532145.1_3'UTR|LRRK1_ENST00000388948.3_Missense_Mutation_p.V1789M|RP11-505E24.2_ENST00000559857.1_RNA	p.V1786M			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		33	5756	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1789						Missense_Mutation	SNP	ENST00000388948.3	37	c.5356G>A	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402235	0.42613	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.77750	-1.1;-1.12	5.7	4.78	0.61160	.	0.204720	0.42420	D	0.000710	T	0.78578	0.4305	L	0.59436	1.845	0.31715	N	0.639083	D	0.63880	0.993	P	0.53224	0.721	T	0.81250	-0.1018	10	0.62326	D	0.03	.	7.2068	0.25911	0.1327:0.1615:0.7058:0.0	.	1789	Q38SD2	LRRK1_HUMAN	M	1789;1786;480;343	ENSP00000373600:V1789M;ENSP00000284395:V1786M	ENSP00000284395:V1786M	V	+	1	0	LRRK1	99423530	0.954000	0.32549	0.082000	0.20525	0.104000	0.19210	1.634000	0.37123	2.675000	0.91044	0.655000	0.94253	GTG		0.632	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		4	115	0	0	0	1	0	4	115				
MLANA	2315	broad.mit.edu	37	9	5906999	5906999	+	Splice_Site	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:5906999G>A	ENST00000381477.3	+	4	448		c.e4+1		MLANA_ENST00000381471.1_Splice_Site|KIAA2026_ENST00000443149.2_Intron|MLANA_ENST00000490518.1_3'UTR|MLANA_ENST00000381476.1_Splice_Site	NM_005511.1	NP_005502.1	Q16655	MAR1_HUMAN	melan-A							endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|melanosome (GO:0042470)|trans-Golgi network (GO:0005802)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	8		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(1;1.15e-06)|Lung(218;0.103)		TGAACCTGTGGTAGGTTAAGA	0.378																																						ENST00000381477.3																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	8						c.e4+1		melan-A							78.0	77.0	78.0					9																	5906999		2203	4300	6503	SO:0001630	splice_region_variant	2315					endoplasmic reticulum membrane|integral to plasma membrane|melanosome|trans-Golgi network	protein binding	g.chr9:5906999G>A		CCDS6466.1	9p24.1	2008-02-05			ENSG00000120215	ENSG00000120215			7124	protein-coding gene	gene with protein product		605513					Standard	NM_005511		Approved	MART1	uc003zjo.1	Q16655	OTTHUMG00000019510	ENST00000381477.3:c.288+1G>A	9.37:g.5906999G>A						KIAA2026_ENST00000443149.2_Intron|MLANA_ENST00000381476.1_Splice_Site|MLANA_ENST00000381471.1_Splice_Site|MLANA_ENST00000490518.1_3'UTR		NM_005511.1	NP_005502.1	Q16655	MAR1_HUMAN		GBM - Glioblastoma multiforme(1;1.15e-06)|Lung(218;0.103)	4	448	+		Acute lymphoblastic leukemia(23;0.158)						Q6ICU4	Splice_Site	SNP	ENST00000381477.3	37		CCDS6466.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757813	0.49468	.	.	ENSG00000120215	ENST00000381477;ENST00000381476;ENST00000381471	.	.	.	6.0	6.0	0.97389	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9988	0.80270	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MLANA	5896999	1.000000	0.71417	1.000000	0.80357	0.444000	0.32077	4.746000	0.62133	2.855000	0.98099	0.650000	0.86243	.		0.378	MLANA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051643.1		Intron	5	321	0	0	0	1	0	5	321				
ZFHX4	79776	broad.mit.edu	37	8	77767077	77767077	+	Silent	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr8:77767077C>T	ENST00000521891.2	+	10	8368	c.7920C>T	c.(7918-7920)cgC>cgT	p.R2640R	ZFHX4_ENST00000518282.1_Silent_p.R2614R|ZFHX4_ENST00000455469.2_Silent_p.R2595R|ZFHX4_ENST00000050961.6_Silent_p.R2595R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2595					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATATTGCCCGCGAAGTCGGGC	0.517										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(7918-7920)cgC>cgT		zinc finger homeobox 4							39.0	40.0	40.0					8																	77767077		1861	4105	5966	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767077C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7920C>T	8.37:g.77767077C>T		HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Silent_p.R2614R|ZFHX4_ENST00000455469.2_Silent_p.R2595R|ZFHX4_ENST00000050961.6_Silent_p.R2595R	p.R2640R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8368	+			2595					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.7920C>T	CCDS47878.2																																																																																				0.517	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		6	254	0	0	0	1	0	6	254				
FRG1B	284802	broad.mit.edu	37	20	29628278	29628278	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr20:29628278G>A	ENST00000278882.3	+	6	660	c.280G>A	c.(280-282)Gca>Aca	p.A94T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	94										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGCAATGAAGCAGGGGACAT	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(280-282)Gca>Aca																																						SO:0001583	missense	0							g.chr20:29628278G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.280G>A	20.37:g.29628278G>A	ENSP00000278882:p.Ala94Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T	p.A94T							6	660	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.280G>A		.	.	.	.	.	.	.	.	.	.	g	9.994	1.231660	0.22626	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44083	0.93	2.08	2.08	0.27032	Actin cross-linking (1);	0.286587	0.39083	N	0.001478	T	0.22898	0.0553	.	.	.	0.21290	N	0.99973	B;B	0.12630	0.0;0.006	B;B	0.12156	0.002;0.007	T	0.15407	-1.0438	9	0.16420	T	0.52	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	99;94	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	94;99;94	ENSP00000408863:A99T	ENSP00000278882:A94T	A	+	1	0	FRG1B	28241939	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.196000	0.58407	1.475000	0.48197	0.423000	0.28283	GCA		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		16	501	0	0	0	1	0	16	501				
SERPINI1	5274	broad.mit.edu	37	3	167525063	167525063	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr3:167525063G>T	ENST00000295777.5	+	6	1344	c.913G>T	c.(913-915)Gat>Tat	p.D305Y	SERPINI1_ENST00000446050.2_Missense_Mutation_p.D305Y|SERPINI1_ENST00000488374.1_3'UTR	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	305					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TGATTTAAAAGATGTTTTGAA	0.323																																						ENST00000295777.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						c.(913-915)Gat>Tat		serpin peptidase inhibitor, clade I (neuroserpin), member 1							65.0	72.0	70.0					3																	167525063		2203	4295	6498	SO:0001583	missense	5274				central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167525063G>T	Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"""Serine (or cysteine) peptidase inhibitors"""	8943	protein-coding gene	gene with protein product		602445	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"""	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.913G>T	3.37:g.167525063G>T	ENSP00000295777:p.Asp305Tyr					SERPINI1_ENST00000446050.2_Missense_Mutation_p.D305Y|SERPINI1_ENST00000488374.1_3'UTR	p.D305Y	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN			6	1344	+			305					A8K217|D3DNP1|Q6AHZ4	Missense_Mutation	SNP	ENST00000295777.5	37	c.913G>T	CCDS3203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.92|15.92	2.973826|2.973826	0.53720|0.53720	.|.	.|.	ENSG00000163536|ENSG00000163536	ENST00000446050;ENST00000295777;ENST00000466979|ENST00000466865	T;T|.	0.76186|.	-1.0;-1.0|.	5.36|5.36	2.56|2.56	0.30785|0.30785	Serpin domain (3);|.	0.363956|.	0.34088|.	N|.	0.004280|.	T|T	0.78710|0.78710	0.4326|0.4326	M|M	0.92507|0.92507	3.315|3.315	0.48901|0.48901	D|D	0.999725|0.999725	P|.	0.39665|.	0.682|.	B|.	0.43413|.	0.419|.	T|T	0.78625|0.78625	-0.2131|-0.2131	10|5	0.72032|.	D|.	0.01|.	.|.	9.2446|9.2446	0.37518|0.37518	0.0744:0.2738:0.6518:0.0|0.0744:0.2738:0.6518:0.0	.|.	305|.	Q99574|.	NEUS_HUMAN|.	Y|I	305;305;53|13	ENSP00000397373:D305Y;ENSP00000295777:D305Y|.	ENSP00000295777:D305Y|.	D|R	+|+	1|2	0|0	SERPINI1|SERPINI1	169007757|169007757	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	1.793000|1.793000	0.38764|0.38764	0.232000|0.232000	0.21100|0.21100	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.323	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1			16	356	1	0	1.87028e-06	1	1.97066e-06	16	356				
FAM129A	116496	broad.mit.edu	37	1	184772798	184772798	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:184772798C>T	ENST00000367511.3	-	12	1668	c.1475G>A	c.(1474-1476)cGa>cAa	p.R492Q	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	492					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R492Q(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TATCTTCTTTCGGATGGTGCT	0.388																																						ENST00000367511.3																			1	Substitution - Missense(1)	p.R492Q(1)	large_intestine(1)	autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(1474-1476)cGa>cAa		family with sequence similarity 129, member A							227.0	203.0	211.0					1																	184772798		2203	4300	6503	SO:0001583	missense	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184772798C>T	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1475G>A	1.37:g.184772798C>T	ENSP00000356481:p.Arg492Gln					FAM129A_ENST00000487074.1_5'UTR	p.R492Q	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN			12	1668	-			492					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	c.1475G>A	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782868	0.90282	.	.	ENSG00000135842	ENST00000367511	T	0.15603	2.41	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.42063	0.1186	M	0.67700	2.07	0.49798	D	0.999821	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.21280	-1.0250	10	0.59425	D	0.04	-25.4805	17.2043	0.86914	0.0:1.0:0.0:0.0	.	23;492	Q5TEY9;Q9BZQ8	.;NIBAN_HUMAN	Q	492	ENSP00000356481:R492Q	ENSP00000356481:R492Q	R	-	2	0	FAM129A	183039421	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.433000	0.73404	2.490000	0.84030	0.655000	0.94253	CGA		0.388	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			45	448	0	0	0	1	0	45	448				
CYP2C18	1562	broad.mit.edu	37	10	96466679	96466679	+	Missense_Mutation	SNP	C	C	T	rs184571563		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr10:96466679C>T	ENST00000285979.6	+	5	980	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Intron	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	261					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	GAACAGTGCTCGGGACTTTAT	0.328													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17162	0.0		0.0	False		,,,				2504	0.0					ENST00000285979.6																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26						c.(781-783)Cgg>Tgg		cytochrome P450, family 2, subfamily C, polypeptide 18			TRP/ARG,	0,4406		0,0,2203	94.0	93.0	93.0		781,	2.7	1.0	10		93	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	CYP2C18	NM_000772.2,NM_001128925.1	101,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	261/491,	96466679	1,13005	2203	4300	6503	SO:0001583	missense	1562							g.chr10:96466679C>T	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.781C>T	10.37:g.96466679C>T	ENSP00000285979:p.Arg261Trp					CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Intron	p.R261W	NM_000772.2	NP_000763.1				all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	5	980	+		Colorectal(252;0.09)						B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	ENST00000285979.6	37	c.781C>T	CCDS7435.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	c	9.652	1.141846	0.21205	0.0	1.16E-4	ENSG00000108242	ENST00000285979	T	0.71461	-0.57	3.65	2.71	0.32032	.	0.328007	0.28257	U	0.016011	T	0.81019	0.4736	H	0.98883	4.36	0.28368	N	0.92014	P	0.50272	0.933	B	0.44085	0.44	T	0.78833	-0.2048	10	0.87932	D	0	.	6.4311	0.21796	0.2097:0.5865:0.2038:0.0	.	261	P33260	CP2CI_HUMAN	W	261	ENSP00000285979:R261W	ENSP00000285979:R261W	R	+	1	2	CYP2C18	96456669	0.992000	0.36948	0.985000	0.45067	0.219000	0.24729	1.778000	0.38614	0.826000	0.34661	0.306000	0.20318	CGG		0.328	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		5	373	0	0	0	1	0	5	373				
LILRA2	11027	broad.mit.edu	37	19	55086976	55086976	+	Silent	SNP	C	C	T	rs200182124		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:55086976C>T	ENST00000251377.3	+	6	1042	c.909C>T	c.(907-909)tcC>tcT	p.S303S	LILRA2_ENST00000251376.3_Silent_p.S303S|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Silent_p.S291S|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Silent_p.S303S|LILRB1_ENST00000418536.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	303	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.S303S(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		ACCTCTCCTCCGAGTGGTCGG	0.672																																						ENST00000251377.3																			1	Substitution - coding silent(1)	p.S303S(1)	kidney(1)	breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(907-909)tcC>tcT		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							45.0	49.0	47.0					19																	55086976		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr19:55086976C>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.909C>T	19.37:g.55086976C>T						LILRA2_ENST00000391737.1_Silent_p.S291S|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Silent_p.S303S|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Silent_p.S303S|LILRB1_ENST00000396321.2_Intron	p.S303S						GBM - Glioblastoma multiforme(193;0.0963)	6	1042	+								O75020	Silent	SNP	ENST00000251377.3	37	c.909C>T	CCDS46179.1																																																																																				0.672	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			7	305	0	0	0	1	0	7	305				
TP73	7161	broad.mit.edu	37	1	3638720	3638720	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:3638720G>A	ENST00000378295.4	+	5	720	c.565G>A	c.(565-567)Gac>Aac	p.D189N	TP73_ENST00000604479.1_Missense_Mutation_p.D189N|TP73_ENST00000346387.4_Missense_Mutation_p.D189N|TP73_ENST00000378290.4_Missense_Mutation_p.D118N|TP73_ENST00000378288.4_Missense_Mutation_p.D140N|TP73_ENST00000354437.4_Missense_Mutation_p.D189N|TP73_ENST00000378280.1_Missense_Mutation_p.D140N|TP73_ENST00000357733.3_Missense_Mutation_p.D189N|TP73_ENST00000378285.1_Missense_Mutation_p.D140N|TP73_ENST00000604074.1_Missense_Mutation_p.D189N|TP73_ENST00000603362.1_Missense_Mutation_p.D189N	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	189	DNA-binding. {ECO:0000255}.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		GCACGTGACCGACGTCGTGAA	0.647																																						ENST00000378295.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20						c.(565-567)Gac>Aac		tumor protein p73							74.0	67.0	70.0					1																	3638720		2201	4297	6498	SO:0001583	missense	7161				cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity	g.chr1:3638720G>A	AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.565G>A	1.37:g.3638720G>A	ENSP00000367545:p.Asp189Asn					TP73_ENST00000378280.1_Missense_Mutation_p.D140N|TP73_ENST00000378285.1_Missense_Mutation_p.D140N|TP73_ENST00000357733.3_Missense_Mutation_p.D189N|TP73_ENST00000604074.1_Missense_Mutation_p.D189N|TP73_ENST00000346387.4_Missense_Mutation_p.D189N|TP73_ENST00000378290.4_Missense_Mutation_p.D118N|TP73_ENST00000354437.4_Missense_Mutation_p.D189N|TP73_ENST00000603362.1_Missense_Mutation_p.D189N|TP73_ENST00000378288.4_Missense_Mutation_p.D140N|TP73_ENST00000604479.1_Missense_Mutation_p.D189N	p.D189N	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)	5	720	+	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)	189			DNA-binding (Potential).		B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	ENST00000378295.4	37	c.565G>A	CCDS49.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259548	0.39995	.	.	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378285;ENST00000378280;ENST00000378290	D;D;D;D;D;D;D;D	0.99800	-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8	3.12	3.12	0.35913	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.108958	0.64402	D	0.000010	D	0.98745	0.9578	L	0.58810	1.83	0.40527	D	0.980894	P;P;B;B;B;P	0.47034	0.654;0.889;0.424;0.424;0.168;0.479	B;B;B;B;B;B	0.31751	0.054;0.135;0.067;0.067;0.059;0.11	D	0.99087	1.0839	10	0.87932	D	0	-21.6062	13.7221	0.62735	0.0:0.0:1.0:0.0	.	140;140;140;140;189;189	B7Z8Z1;O15350-10;O15350-9;O15350-8;O15350-2;O15350	.;.;.;.;.;P73_HUMAN	N	189;189;189;189;140;140;140;118	ENSP00000367545:D189N;ENSP00000346423:D189N;ENSP00000350366:D189N;ENSP00000340740:D189N;ENSP00000367537:D140N;ENSP00000367534:D140N;ENSP00000367529:D140N;ENSP00000367539:D118N	ENSP00000340740:D189N	D	+	1	0	TP73	3628580	1.000000	0.71417	0.097000	0.21041	0.063000	0.16089	9.354000	0.97083	1.762000	0.52044	0.491000	0.48974	GAC		0.647	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001468.4	NM_005427		5	155	0	0	0	1	0	5	155				
JAG1	182	broad.mit.edu	37	20	10629323	10629323	+	Silent	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr20:10629323G>A	ENST00000254958.5	-	12	1958	c.1443C>T	c.(1441-1443)ggC>ggT	p.G481G	JAG1_ENST00000488480.1_RNA|JAG1_ENST00000423891.2_Silent_p.G322G	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	481	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CACAGTGATCGCCTGCATAGC	0.463									Alagille Syndrome																													ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(1441-1443)ggC>ggT		jagged 1							87.0	81.0	83.0					20																	10629323		2203	4300	6503	SO:0001819	synonymous_variant	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10629323G>A	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.1443C>T	20.37:g.10629323G>A						JAG1_ENST00000423891.2_Silent_p.G322G	p.G481G	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			12	1958	-			481			EGF-like 7; calcium-binding (Potential).		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	c.1443C>T	CCDS13112.1																																																																																				0.463	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		36	330	0	0	0	1	0	36	330				
C20orf166	128826	broad.mit.edu	37	20	61162268	61162268	+	Silent	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr20:61162268G>A	ENST00000370527.3	+	3	860	c.81G>A	c.(79-81)gtG>gtA	p.V27V	MIR133A2_ENST00000347538.2_RNA|C20orf166_ENST00000370524.2_Intron|C20orf166_ENST00000370523.1_Intron	NM_178463.3	NP_848558.1			chromosome 20 open reading frame 166											endometrium(1)|kidney(1)|lung(2)	4	Breast(26;1.04e-08)		BRCA - Breast invasive adenocarcinoma(19;7.17e-06)			CCCAGCAGGTGGCGCGGGGAG	0.677																																						ENST00000370527.3																			0				endometrium(1)|kidney(1)|lung(2)	4						c.(79-81)gtG>gtA		chromosome 20 open reading frame 166							10.0	12.0	12.0					20																	61162268		2177	4260	6437	SO:0001819	synonymous_variant	128826							g.chr20:61162268G>A	AL449263	CCDS46627.1	20q13.33	2014-01-21			ENSG00000174407	ENSG00000174407			16159	protein-coding gene	gene with protein product	"""MIR133A2 host gene"""						Standard	NM_178463		Approved	dJ353C17.1, MIR1-1HG, MIR133A2HG	uc011aaj.2	Q9H1L0	OTTHUMG00000048000	ENST00000370527.3:c.81G>A	20.37:g.61162268G>A						C20orf166_ENST00000370524.2_Intron|C20orf166_ENST00000370523.1_Intron	p.V27V	NM_178463.3	NP_848558.1	Q9H1L0	CT166_HUMAN	BRCA - Breast invasive adenocarcinoma(19;7.17e-06)		3	860	+	Breast(26;1.04e-08)		27		V -> A (in dbSNP:rs6062251).				Silent	SNP	ENST00000370527.3	37	c.81G>A	CCDS46627.1																																																																																				0.677	C20orf166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109262.1	NM_178463		15	90	0	0	0	1	0	15	90				
SCG2	7857	broad.mit.edu	37	2	224463590	224463590	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:224463590C>A	ENST00000305409.2	-	2	643	c.411G>T	c.(409-411)ttG>ttT	p.L137F		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTTCTGAATTCAAGGCATAGG	0.418																																						ENST00000305409.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44						c.(409-411)ttG>ttT		secretogranin II							169.0	169.0	169.0					2																	224463590		2203	4300	6503	SO:0001583	missense	7857				angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	g.chr2:224463590C>A	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.411G>T	2.37:g.224463590C>A	ENSP00000304133:p.Leu137Phe						p.L137F	NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	643	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	137					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	c.411G>T	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.724117	0.30593	.	.	ENSG00000171951	ENST00000305409;ENST00000421386	T;T	0.01947	4.54;4.54	5.5	2.25	0.28309	.	0.523587	0.17566	N	0.169646	T	0.06690	0.0171	L	0.57536	1.79	0.27734	N	0.944717	D	0.61080	0.989	P	0.62298	0.9	T	0.17289	-1.0374	10	0.30078	T	0.28	.	8.7801	0.34787	0.0:0.6547:0.0:0.3453	.	137	P13521	SCG2_HUMAN	F	137	ENSP00000304133:L137F;ENSP00000394702:L137F	ENSP00000304133:L137F	L	-	3	2	SCG2	224171834	0.981000	0.34729	0.366000	0.25914	0.948000	0.59901	0.473000	0.22132	0.805000	0.34159	0.585000	0.79938	TTG		0.418	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		283	437	1	0	2.16399e-160	1	2.38102e-160	283	437				
SBNO1	55206	broad.mit.edu	37	12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr12:123780522G>A	ENST00000602398.1	-	32	4242	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000420886.2_Missense_Mutation_p.A1372V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372					regulation of transcription, DNA-templated (GO:0006355)			p.A1371V(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGTTGGACCGCAAGCTGTTG	0.433																																						ENST00000420886.2																			2	Substitution - Missense(2)	p.A1371V(2)	lung(1)|prostate(1)	NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(4114-4116)gCg>gTg		strawberry notch homolog 1 (Drosophila)							340.0	303.0	316.0					12																	123780522		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123780522G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.4115C>T	12.37:g.123780522G>A	ENSP00000473665:p.Ala1372Val					SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V	p.A1372V	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	31	4114	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1372					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.4115C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622923	0.87460	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.32515	1.45;1.45	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.959;0.981	T	0.12785	-1.0534	10	0.33940	T	0.23	-19.465	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1372;1371	A3KN83;A3KN83-2	SBNO1_HUMAN;.	V	1372;1371	ENSP00000387361:A1372V;ENSP00000267176:A1371V	ENSP00000267176:A1371V	A	-	2	0	SBNO1	122346475	1.000000	0.71417	0.790000	0.31976	0.976000	0.68499	9.431000	0.97494	2.873000	0.98535	0.561000	0.74099	GCG		0.433	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		7	964	0	0	0	1	0	7	964				
SNPH	9751	broad.mit.edu	37	20	1277814	1277814	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr20:1277814C>T	ENST00000381873.3	+	4	312	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	SNPH_ENST00000381867.1_Missense_Mutation_p.R70W	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	26					brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGTGAGCGTGCGGGATGCCTA	0.637																																						ENST00000381867.1																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(208-210)Cgg>Tgg		syntaphilin							45.0	35.0	38.0					20																	1277814		2203	4300	6503	SO:0001583	missense	9751				synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	g.chr20:1277814C>T		CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.76C>T	20.37:g.1277814C>T	ENSP00000371297:p.Arg26Trp					SNPH_ENST00000381873.3_Missense_Mutation_p.R26W	p.R70W			O15079	SNPH_HUMAN			5	850	+			26					Q8IYI3	Missense_Mutation	SNP	ENST00000381873.3	37	c.208C>T	CCDS13012.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101714	0.76983	.	.	ENSG00000101298	ENST00000381873;ENST00000381867	.	.	.	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000002	T	0.60521	0.2275	N	0.14661	0.345	0.48696	D	0.999699	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.66312	-0.5955	9	0.72032	D	0.01	-32.1973	14.4339	0.67268	0.1565:0.8435:0.0:0.0	.	70;26	O15079-2;O15079	.;SNPH_HUMAN	W	26;70	.	ENSP00000371291:R70W	R	+	1	2	SNPH	1225814	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.384000	0.59607	2.608000	0.88229	0.655000	0.94253	CGG		0.637	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145240.2	NM_014723		28	160	0	0	0	1	0	28	160				
MGA	23269	broad.mit.edu	37	15	42052633	42052633	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr15:42052633G>A	ENST00000570161.1	+	19	7304	c.7304G>A	c.(7303-7305)cGg>cAg	p.R2435Q	MGA_ENST00000389936.4_Missense_Mutation_p.R2396Q|MGA_ENST00000566586.1_Missense_Mutation_p.R2226Q|MGA_ENST00000545763.1_Missense_Mutation_p.R2226Q|MGA_ENST00000219905.7_Missense_Mutation_p.R2435Q			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.R2484Q(4)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAGCGGCGGCGGCGTGGTGAA	0.438																																						ENST00000219905.7																			4	Substitution - Missense(4)	p.R2484Q(4)	ovary(2)|large_intestine(1)|central_nervous_system(1)	NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(7303-7305)cGg>cAg		MGA, MAX dimerization protein							109.0	111.0	110.0					15																	42052633		1900	4109	6009	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42052633G>A	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7304G>A	15.37:g.42052633G>A	ENSP00000457035:p.Arg2435Gln					MGA_ENST00000570161.1_Missense_Mutation_p.R2435Q|MGA_ENST00000545763.1_Missense_Mutation_p.R2226Q|MGA_ENST00000389936.4_Missense_Mutation_p.R2396Q|MGA_ENST00000566586.1_Missense_Mutation_p.R2226Q	p.R2435Q	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	20	7485	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2396			Helix-loop-helix motif.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.7304G>A	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	34	5.296335	0.95574	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.99722	-6.53;-6.53;-6.53	5.53	5.53	0.82687	.	0.000000	0.49305	D	0.000156	D	0.99711	0.9889	M	0.83223	2.63	0.31601	N	0.652706	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.997;0.978	D	0.97541	1.0086	10	0.87932	D	0	.	19.4485	0.94857	0.0:0.0:1.0:0.0	.	1051;2226;2435	B4DVS1;F5H7K2;E7ENI0	.;.;.	Q	2435;2396;2226	ENSP00000219905:R2435Q;ENSP00000374586:R2396Q;ENSP00000442467:R2226Q	ENSP00000219905:R2435Q	R	+	2	0	MGA	39839925	0.999000	0.42202	0.998000	0.56505	0.992000	0.81027	7.159000	0.77483	2.583000	0.87209	0.655000	0.94253	CGG		0.438	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		18	318	0	0	0	1	0	18	318				
VCAM1	7412	broad.mit.edu	37	1	101194865	101194865	+	Silent	SNP	C	C	T	rs372051353		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:101194865C>T	ENST00000294728.2	+	5	1232	c.1131C>T	c.(1129-1131)aaC>aaT	p.N377N	VCAM1_ENST00000370119.4_Silent_p.N315N|VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Intron	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	377	Ig-like C2-type 4.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GTTTTGAGAACGAACACTCTT	0.493																																						ENST00000294728.2																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1129-1131)aaC>aaT		vascular cell adhesion molecule 1	Carvedilol(DB01136)	C	,,	0,4406		0,0,2203	115.0	120.0	118.0		1131,945,	-6.6	0.1	1		118	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,intron	VCAM1	NM_001078.3,NM_001199834.1,NM_080682.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	377/740,315/678,	101194865	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101194865C>T	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1131C>T	1.37:g.101194865C>T						VCAM1_ENST00000370119.4_Silent_p.N315N|VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Intron	p.N377N	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	5	1232	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	377			Ig-like C2-type 4.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Silent	SNP	ENST00000294728.2	37	c.1131C>T	CCDS773.1																																																																																				0.493	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		41	447	0	0	0	1	0	41	447				
GNAS	2778	broad.mit.edu	37	20	57484420	57484420	+	Missense_Mutation	SNP	C	C	T	rs11554273		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr20:57484420C>T	ENST00000371085.3	+	8	1025	c.601C>T	c.(601-603)Cgt>Tgt	p.R201C	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371100.4_Missense_Mutation_p.R844C|GNAS_ENST00000306090.10_Missense_Mutation_p.R187C|GNAS_ENST00000371102.4_Missense_Mutation_p.R830C|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.R202C|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.R187C|GNAS_ENST00000265620.7_Missense_Mutation_p.R186C	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	201			R -> C (in MAS and somatotrophinoma; dbSNP:rs11554273). {ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> G (in MAS). {ECO:0000269|PubMed:10571700}.|R -> H (in MAS, somatotrophinoma and AIMAH1). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:1594625, ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> L (in non-MAS endocrine tumors). {ECO:0000269|PubMed:7751320}.|R -> S (in AIMAH1, pituitary tumor and polyostotic fibrous dysplasia). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:8766942, ECO:0000269|PubMed:9267696}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R201C(228)|p.R844C(9)|p.R201S(5)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCTTCGCTGCCGTGTCCTGAC	0.428			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		242	Substitution - Missense(242)	p.R201C(228)|p.R844C(9)|p.R201S(5)	pituitary(141)|pancreas(35)|large_intestine(14)|ovary(12)|thyroid(10)|adrenal_gland(7)|biliary_tract(6)|parathyroid(5)|liver(3)|kidney(3)|testis(2)|upper_aerodigestive_tract(2)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)	adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(2530-2532)Cgt>Tgt		GNAS complex locus							80.0	78.0	79.0					20																	57484420		2203	4300	6503	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57484420C>T	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.601C>T	20.37:g.57484420C>T	ENSP00000360126:p.Arg201Cys	TSP Lung(22;0.16)				GNAS_ENST00000371085.3_Missense_Mutation_p.R201C|GNAS_ENST00000354359.7_Missense_Mutation_p.R202C|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.R187C|GNAS_ENST00000265620.7_Missense_Mutation_p.R186C|GNAS_ENST00000306090.10_Missense_Mutation_p.R187C|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.R830C|GNAS_ENST00000464624.2_3'UTR	p.R844C	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		8	3082	+	all_lung(29;0.0104)		201					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	37	c.2530C>T	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215896	0.79352	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99466	-5.95;-5.95;-5.95;-5.95;-5.95;-2.99;-5.95	5.53	4.53	0.55603	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99775	0.9907	H	0.99732	4.735	0.80722	D	1	D;D;D;D	0.89917	0.999;0.983;0.979;1.0	D;P;P;D	0.97110	0.939;0.845;0.643;1.0	D	0.96814	0.9599	10	0.87932	D	0	.	13.0593	0.58997	0.2437:0.7563:0.0:0.0	rs11554273	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	C	844;830;187;201;202;186;187	ENSP00000360141:R844C;ENSP00000360143:R830C;ENSP00000360136:R187C;ENSP00000360126:R201C;ENSP00000346328:R202C;ENSP00000265620:R186C;ENSP00000304472:R187C	ENSP00000265620:R186C	R	+	1	0	GNAS	56917815	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	4.055000	0.57441	2.596000	0.87737	0.563000	0.77884	CGT		0.428	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516		413	15	0	0	0	1	0	413	15				
MYO5B	4645	broad.mit.edu	37	18	47373562	47373562	+	Silent	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr18:47373562C>T	ENST00000285039.7	-	33	4712	c.4413G>A	c.(4411-4413)gaG>gaA	p.E1471E	MYO5B_ENST00000592688.1_Silent_p.E41E|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Silent_p.E586E	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1471					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CTTTGTGGTACTCCAGCATGC	0.617																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(4411-4413)gaG>gaA		myosin VB							84.0	91.0	89.0					18																	47373562		2118	4226	6344	SO:0001819	synonymous_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47373562C>T	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.4413G>A	18.37:g.47373562C>T						SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Silent_p.E586E|MYO5B_ENST00000592688.1_Silent_p.E41E	p.E1471E	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	33	4712	-			1471					B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	c.4413G>A	CCDS42436.1																																																																																				0.617	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			6	246	0	0	0	1	0	6	246				
SLIT3	6586	broad.mit.edu	37	5	168222582	168222582	+	Splice_Site	SNP	G	G	A	rs143425660	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:168222582G>A	ENST00000519560.1	-	10	1356	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C	SLIT3_ENST00000404867.3_Splice_Site_p.R313C|SLIT3_ENST00000332966.8_Splice_Site_p.R313C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	313					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTTCTAGGCGTCTGGGAAAC	0.512																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.e10-1		slit homolog 3 (Drosophila)		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	138.0	131.0	134.0		937	5.2	1.0	5	dbSNP_134	134	5,8595	4.3+/-15.6	0,5,4295	yes	missense-near-splice	SLIT3	NM_003062.2	180	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	probably-damaging	313/1524	168222582	6,13000	2203	4300	6503	SO:0001630	splice_region_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168222582G>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.936-1C>T	5.37:g.168222582G>A						SLIT3_ENST00000332966.8_Splice_Site_p.R313_splice|SLIT3_ENST00000404867.3_Splice_Site_p.R313_splice	p.R313_splice	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		10	1356	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	313					A6H8U9|J3KNP3|O95804|Q9UFH5	Splice_Site	SNP	ENST00000519560.1	37	c.935_splice	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635517	0.87760	2.27E-4	5.81E-4	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.25414	1.8;1.8;1.8	5.18	5.18	0.71444	.	0.046523	0.85682	D	0.000000	T	0.48077	0.1480	L	0.52759	1.655	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.47787	-0.9090	10	0.87932	D	0	.	18.781	0.91932	0.0:0.0:1.0:0.0	.	313;313;313	O75094-2;O75094-3;O75094	.;.;SLIT3_HUMAN	C	313	ENSP00000430333:R313C;ENSP00000332164:R313C;ENSP00000384890:R313C	ENSP00000332164:R313C	R	-	1	0	SLIT3	168155160	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.441000	0.90313	2.433000	0.82419	0.650000	0.86243	CGC		0.512	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062	Missense_Mutation	5	403	0	0	0	1	0	5	403				
LRIG2	9860	broad.mit.edu	37	1	113637053	113637053	+	Missense_Mutation	SNP	G	G	A	rs368325211		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:113637053G>A	ENST00000361127.5	+	5	806	c.608G>A	c.(607-609)cGa>cAa	p.R203Q		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	203					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AACCGTAACCGAATGAGCATG	0.358																																						ENST00000361127.4																			0				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31						c.(607-609)cGa>cAa		leucine-rich repeats and immunoglobulin-like domains 2		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	115.0	106.0	109.0		608	4.7	1.0	1		109	0,8600		0,0,4300	no	missense	LRIG2	NM_014813.1	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	203/1066	113637053	1,13005	2203	4300	6503	SO:0001583	missense	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113637053G>A	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.608G>A	1.37:g.113637053G>A	ENSP00000355396:p.Arg203Gln						p.R203Q	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	5	806	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	203					Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	c.608G>A	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	G	32	5.112650	0.94339	2.27E-4	0.0	ENSG00000198799	ENST00000361127	T	0.23950	1.88	5.65	4.74	0.60224	.	0.050962	0.85682	D	0.000000	T	0.11495	0.0280	N	0.25426	0.745	0.53688	D	0.999973	P	0.43431	0.807	B	0.41412	0.356	T	0.03139	-1.1068	10	0.44086	T	0.13	.	14.7887	0.69824	0.0694:0.0:0.9306:0.0	.	203	O94898	LRIG2_HUMAN	Q	203	ENSP00000355396:R203Q	ENSP00000355396:R203Q	R	+	2	0	LRIG2	113438576	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.684000	0.74538	1.518000	0.48934	0.650000	0.86243	CGA		0.358	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		6	463	0	0	0	1	0	6	463				
TG	7038	broad.mit.edu	37	8	133953738	133953738	+	Silent	SNP	C	C	T	rs199599591		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr8:133953738C>T	ENST00000220616.4	+	26	5224	c.5184C>T	c.(5182-5184)tgC>tgT	p.C1728C	TG_ENST00000542445.1_Intron|TG_ENST00000377869.1_Silent_p.C1671C	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1728					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTCTTGCATGCGACCGTGATC	0.522													C|||	1	0.000199681	0.0008	0.0	5008	,	,		23532	0.0		0.0	False		,,,				2504	0.0					ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(5182-5184)tgC>tgT		thyroglobulin		C		2,4404	4.2+/-10.8	0,2,2201	175.0	141.0	152.0		5184	3.2	1.0	8		152	0,8600		0,0,4300	no	coding-synonymous	TG	NM_003235.4		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		1728/2769	133953738	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133953738C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.5184C>T	8.37:g.133953738C>T						TG_ENST00000377869.1_Silent_p.C1671C|TG_ENST00000542445.1_Intron	p.C1728C	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	26	5224	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1728					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.5184C>T	CCDS34944.1																																																																																				0.522	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		10	358	0	0	0	1	0	10	358				
SPATA13	221178	broad.mit.edu	37	13	24823914	24823914	+	Silent	SNP	C	C	T	rs139541678		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr13:24823914C>T	ENST00000382095.4	+	2	485	c.78C>T	c.(76-78)tcC>tcT	p.S26S	RP11-307N16.6_ENST00000382141.4_Intron|SPATA13_ENST00000382108.3_Silent_p.S651S|SPATA13-AS1_ENST00000430733.1_RNA|SPATA13_ENST00000424834.2_Silent_p.S651S	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	26					cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GCCCCATTTCCGTGATAGGTG	0.587																																						ENST00000424834.2																			0				breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23						c.(1951-1953)tcC>tcT		spermatogenesis associated 13		C	,	1,4403		0,1,2201	67.0	61.0	63.0		1953,78	-9.9	0.8	13	dbSNP_134	63	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous	SPATA13	NM_001166271.1,NM_153023.2	,	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	,	651/1278,26/653	24823914	1,12997	2202	4297	6499	SO:0001819	synonymous_variant	221178				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	g.chr13:24823914C>T	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.78C>T	13.37:g.24823914C>T						SPATA13_ENST00000382108.3_Silent_p.S651S|SPATA13_ENST00000382095.4_Silent_p.S26S	p.S651S			Q96N96	SPT13_HUMAN		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)	5	2426	+		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)	26			C-terminal tail.		A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Silent	SNP	ENST00000382095.4	37	c.1953C>T	CCDS9305.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.398839	0.25291	2.27E-4	0.0	ENSG00000182957	ENST00000424834	.	.	.	5.65	-9.95	0.00446	.	.	.	.	.	T	0.43389	0.1245	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51655	-0.8678	4	.	.	.	.	6.4251	0.21766	0.0797:0.1283:0.0799:0.7122	.	.	.	.	C	689	.	.	R	+	1	0	SPATA13	23721914	0.000000	0.05858	0.849000	0.33467	0.964000	0.63967	-2.582000	0.00905	-1.440000	0.01960	-0.379000	0.06801	CGT		0.587	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023		5	292	0	0	0	1	0	5	292				
PFKP	5214	broad.mit.edu	37	10	3178679	3178679	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr10:3178679C>T	ENST00000381125.4	+	22	2339	c.2263C>T	c.(2263-2265)Cgg>Tgg	p.R755W	PFKP_ENST00000381075.2_Missense_Mutation_p.R747W|PFKP_ENST00000381072.1_Missense_Mutation_p.R173W|PITRM1_ENST00000464395.1_5'Flank	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	755	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GCTCAAGCTACGGCCCCTCAT	0.592																																						ENST00000381075.2																			0				breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(2239-2241)Cgg>Tgg		phosphofructokinase, platelet							59.0	48.0	52.0					10																	3178679		2203	4300	6503	SO:0001583	missense	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3178679C>T	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.2263C>T	10.37:g.3178679C>T	ENSP00000370517:p.Arg755Trp					PFKP_ENST00000381072.1_Missense_Mutation_p.R173W|PFKP_ENST00000381125.4_Missense_Mutation_p.R755W	p.R747W	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	24	2463	+			755					B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	37	c.2239C>T	CCDS7059.1	.	.	.	.	.	.	.	.	.	.	c	19.92	3.916947	0.73098	.	.	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000381072	T;T;T	0.81078	-1.45;-1.45;-1.45	5.14	3.14	0.36123	Phosphofructokinase domain (1);	0.000000	0.85682	D	0.000000	D	0.90597	0.7052	M	0.89715	3.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92303	0.5851	10	0.87932	D	0	.	13.5335	0.61635	0.2836:0.7164:0.0:0.0	.	747;747;755	B3KS15;Q5VSR7;Q01813	.;.;K6PP_HUMAN	W	755;744;747;173	ENSP00000370517:R755W;ENSP00000370465:R747W;ENSP00000370462:R173W	ENSP00000370462:R173W	R	+	1	2	PFKP	3168679	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	2.312000	0.43726	1.149000	0.42402	-0.521000	0.04368	CGG		0.592	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		7	62	0	0	0	1	0	7	62				
SPATA31E1	286234	broad.mit.edu	37	9	90499930	90499930	+	Silent	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:90499930G>A	ENST00000325643.5	+	4	594	c.528G>A	c.(526-528)ccG>ccA	p.P176P		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	176	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCCACCAGCCGCATGGGAAAT	0.637																																						ENST00000325643.5																			0											c.(526-528)ccG>ccA		SPATA31 subfamily E, member 1							66.0	69.0	68.0					9																	90499930		2203	4300	6503	SO:0001819	synonymous_variant	286234							g.chr9:90499930G>A	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.528G>A	9.37:g.90499930G>A							p.P176P	NM_178828.4	NP_849150.3					4	594	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	c.528G>A	CCDS6676.1																																																																																				0.637	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		11	313	0	0	0	1	0	11	313				
CSMD1	64478	broad.mit.edu	37	8	3263663	3263663	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr8:3263663A>G	ENST00000520002.1	-	16	2710	c.2155T>C	c.(2155-2157)Tcg>Ccg	p.S719P	CSMD1_ENST00000542608.1_Missense_Mutation_p.S718P|CSMD1_ENST00000602557.1_Missense_Mutation_p.S719P|CSMD1_ENST00000537824.1_Missense_Mutation_p.S718P|CSMD1_ENST00000539096.1_Missense_Mutation_p.S718P|CSMD1_ENST00000602723.1_Missense_Mutation_p.S719P|CSMD1_ENST00000400186.3_Missense_Mutation_p.S719P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	719	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAAGAAACCGAGCTCCCGAGT	0.493																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(2155-2157)Tcg>Ccg		CUB and Sushi multiple domains 1							54.0	55.0	54.0					8																	3263663		1915	4131	6046	SO:0001583	missense	64478					integral to membrane		g.chr8:3263663A>G			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2155T>C	8.37:g.3263663A>G	ENSP00000430733:p.Ser719Pro					CSMD1_ENST00000542608.1_Missense_Mutation_p.S718P|CSMD1_ENST00000400186.3_Missense_Mutation_p.S719P|CSMD1_ENST00000537824.1_Missense_Mutation_p.S718P|CSMD1_ENST00000539096.1_Missense_Mutation_p.S718P|CSMD1_ENST00000520002.1_Missense_Mutation_p.S719P|CSMD1_ENST00000602723.1_Missense_Mutation_p.S719P	p.S719P			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	16	2710	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	719			Sushi 4.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.2155T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.33|19.33	3.806114|3.806114	0.70682|0.70682	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.67345	.|-0.26;-0.26;-0.26;-0.26;-0.26	5.46|5.46	5.46|5.46	0.80206|0.80206	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.000000	.|0.64402	.|D	.|0.000002	D|D	0.84284|0.84284	0.5438|0.5438	M|M	0.88775|0.88775	2.98|2.98	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.992;0.999	.|D;D	.|0.97110	.|0.996;1.0	D|D	0.86812|0.86812	0.1999|0.1999	5|10	.|0.54805	.|T	.|0.06	.|.	15.5259|15.5259	0.75905|0.75905	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|719;719	.|E5RIG2;Q96PZ7	.|.;CSMD1_HUMAN	P|P	198|719;719;581;718;718;718	.|ENSP00000383047:S719P;ENSP00000430733:S719P;ENSP00000441462:S718P;ENSP00000446243:S718P;ENSP00000441675:S718P	.|ENSP00000320445:S581P	L|S	-|-	2|1	0|0	CSMD1|CSMD1	3251070|3251070	1.000000|1.000000	0.71417|0.71417	0.726000|0.726000	0.30738|0.30738	0.334000|0.334000	0.28698|0.28698	7.161000|7.161000	0.77505|0.77505	2.049000|2.049000	0.60858|0.60858	0.533000|0.533000	0.62120|0.62120	CTC|TCG		0.493	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		58	80	0	0	0	1	0	58	80				
SCRIB	23513	broad.mit.edu	37	8	144889134	144889134	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr8:144889134G>A	ENST00000320476.3	-	17	2234	c.2228C>T	c.(2227-2229)gCg>gTg	p.A743V	SCRIB_ENST00000356994.2_Missense_Mutation_p.A743V|SCRIB_ENST00000377533.3_Missense_Mutation_p.A662V	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	743	Interaction with ARHGEF7.|PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CTTGCCGCCCGCAATGCTGAT	0.642																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(2227-2229)gCg>gTg		scribbled planar cell polarity protein							51.0	49.0	50.0					8																	144889134		2201	4300	6501	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144889134G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.2228C>T	8.37:g.144889134G>A	ENSP00000322938:p.Ala743Val					SCRIB_ENST00000320476.3_Missense_Mutation_p.A743V|SCRIB_ENST00000377533.3_Missense_Mutation_p.A662V	p.A743V	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		17	2234	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		743			Interaction with ARHGEF7.|PDZ 1.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.2228C>T	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	g	22.5	4.296116	0.81025	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539;ENST00000531942	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	4.12	4.12	0.48240	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.35941	0.0949	N	0.17764	0.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.988	T	0.37244	-0.9714	9	0.87932	D	0	.	15.5397	0.76031	0.0:0.0:1.0:0.0	.	743;743	Q14160;Q14160-3	SCRIB_HUMAN;.	V	743;743;662;112;40	ENSP00000349486:A743V;ENSP00000322938:A743V;ENSP00000366756:A662V;ENSP00000433546:A40V	ENSP00000322938:A743V	A	-	2	0	SCRIB	144961122	1.000000	0.71417	0.346000	0.25655	0.411000	0.31082	7.292000	0.78731	2.150000	0.67090	0.486000	0.48141	GCG		0.642	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		36	61	0	0	0	1	0	36	61				
NCAPD3	23310	broad.mit.edu	37	11	134038048	134038048	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr11:134038048C>A	ENST00000534548.2	-	27	3480	c.3416G>T	c.(3415-3417)aGt>aTt	p.S1139I		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1139					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GAGTAACTCACTGGCGTCCAG	0.493																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3415-3417)aGt>aTt		non-SMC condensin II complex, subunit D3							106.0	95.0	99.0					11																	134038048		2201	4297	6498	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134038048C>A	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.3416G>T	11.37:g.134038048C>A	ENSP00000433681:p.Ser1139Ile						p.S1139I	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	27	3480	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1139					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.3416G>T	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	c	19.26	3.792906	0.70452	.	.	ENSG00000151503	ENST00000534548;ENST00000527944;ENST00000530396	T;T	0.44083	0.93;0.93	5.52	3.22	0.36961	Armadillo-type fold (1);	0.345074	0.41500	D	0.000871	T	0.50497	0.1619	M	0.61703	1.905	0.80722	D	1	D;P	0.56746	0.977;0.915	P;P	0.54965	0.765;0.765	T	0.53056	-0.8492	10	0.62326	D	0.03	-8.422	9.3667	0.38228	0.0:0.6918:0.0:0.3082	.	1139;199	P42695;Q96FA6	CNDD3_HUMAN;.	I	1139;44;175	ENSP00000433681:S1139I;ENSP00000435173:S175I	ENSP00000432532:S44I	S	-	2	0	NCAPD3	133543258	0.739000	0.28196	0.994000	0.49952	0.814000	0.46013	1.034000	0.30204	1.286000	0.44565	0.586000	0.80456	AGT		0.493	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		11	176	1	0	5.50884e-06	1	5.75573e-06	11	176				
ADRA2C	152	broad.mit.edu	37	4	3769385	3769385	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr4:3769385G>A	ENST00000330055.5	+	1	1261	c.1052G>A	c.(1051-1053)cGc>cAc	p.R351H	ADRA2C_ENST00000509482.1_Intron	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	351					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCCAGCTCGCGCTCCGTCGAG	0.786																																					Esophageal Squamous(12;454 628 4517 14479)	ENST00000330055.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						c.(1051-1053)cGc>cAc		adrenoceptor alpha 2C	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						10.0	10.0	10.0					4																	3769385		1764	3681	5445	SO:0001583	missense	152				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity	g.chr4:3769385G>A	AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"""GPCR / Class A : Adrenoceptors : alpha"""	283	protein-coding gene	gene with protein product		104250	"""adrenergic, alpha-2C-, receptor"""	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.1052G>A	4.37:g.3769385G>A	ENSP00000386069:p.Arg351His					ADRA2C_ENST00000509482.1_Intron	p.R351H	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	1261	+			351					P35369|Q9HB49	Missense_Mutation	SNP	ENST00000330055.5	37	c.1052G>A	CCDS47004.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656653	0.67586	.	.	ENSG00000184160	ENST00000330055	T	0.64991	-0.13	3.26	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.72439	0.3460	M	0.81614	2.55	0.29204	N	0.875023	D	0.64830	0.994	P	0.56916	0.809	T	0.66368	-0.5941	9	0.52906	T	0.07	.	7.836	0.29369	0.1173:0.0:0.8827:0.0	.	351	P18825	ADA2C_HUMAN	H	351	ENSP00000386069:R351H	ENSP00000386069:R351H	R	+	2	0	ADRA2C	3739183	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	4.466000	0.60148	1.646000	0.50622	0.436000	0.28706	CGC		0.786	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	NM_000683		3	20	0	0	0	1	0	3	20				
TRPC6	7225	broad.mit.edu	37	11	101375374	101375374	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr11:101375374C>T	ENST00000344327.3	-	2	750	c.326G>A	c.(325-327)gGt>gAt	p.G109D	TRPC6_ENST00000348423.4_Missense_Mutation_p.G109D|TRPC6_ENST00000532133.1_Missense_Mutation_p.G109D|TRPC6_ENST00000526713.1_5'Flank|TRPC6_ENST00000360497.4_Missense_Mutation_p.G109D	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	109					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TGGGATGTTACCATATTCAGC	0.483																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(325-327)gGt>gAt		transient receptor potential cation channel, subfamily C, member 6							160.0	149.0	153.0					11																	101375374		2203	4299	6502	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101375374C>T	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.326G>A	11.37:g.101375374C>T	ENSP00000340913:p.Gly109Asp					TRPC6_ENST00000532133.1_Missense_Mutation_p.G109D|TRPC6_ENST00000360497.4_Missense_Mutation_p.G109D|TRPC6_ENST00000348423.4_Missense_Mutation_p.G109D	p.G109D	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	2	750	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	109					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.326G>A	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238460	0.79800	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	5.87	5.87	0.94306	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.88043	0.6331	M	0.89658	3.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89382	0.3682	10	0.87932	D	0	-15.2509	20.206	0.98277	0.0:1.0:0.0:0.0	.	109;109;109	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	D	109	ENSP00000340913:G109D;ENSP00000435574:G109D;ENSP00000343672:G109D;ENSP00000353687:G109D	ENSP00000340913:G109D	G	-	2	0	TRPC6	100880584	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	7.818000	0.86416	2.785000	0.95823	0.655000	0.94253	GGT		0.483	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		280	225	0	0	0	1	0	280	225				
ZNF443	10224	broad.mit.edu	37	19	12542412	12542412	+	Missense_Mutation	SNP	G	G	A	rs540722897	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:12542412G>A	ENST00000301547.5	-	4	771	c.574C>T	c.(574-576)Cgt>Tgt	p.R192C	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	192					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						CCATCTCCACGCTGCACTGCC	0.418													.|||	2	0.000399361	0.0	0.0014	5008	,	,		23166	0.0		0.001	False		,,,				2504	0.0					ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(574-576)Cgt>Tgt		zinc finger protein 443							78.0	77.0	77.0					19																	12542412		2202	4297	6499	SO:0001583	missense	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12542412G>A	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.574C>T	19.37:g.12542412G>A	ENSP00000301547:p.Arg192Cys					CTD-3105H18.16_ENST00000595562.1_Intron	p.R192C	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			4	771	-			192						Missense_Mutation	SNP	ENST00000301547.5	37	c.574C>T	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910675	0.52439	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.18502	2.21	1.26	0.0529	0.14304	Zinc finger, C2H2 (1);	.	.	.	.	T	0.17450	0.0419	N	0.26042	0.785	0.09310	N	1	D	0.65815	0.995	P	0.53450	0.726	T	0.16276	-1.0408	9	0.87932	D	0	.	6.4724	0.22015	0.0:0.0:0.2955:0.7045	.	192	Q9Y2A4	ZN443_HUMAN	C	192	ENSP00000301547:R192C	ENSP00000301547:R192C	R	-	1	0	ZNF443	12403412	0.309000	0.24518	0.000000	0.03702	0.363000	0.29612	0.417000	0.21214	-0.011000	0.14247	0.461000	0.40582	CGT		0.418	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		14	454	0	0	0	1	0	14	454				
LRP2	4036	broad.mit.edu	37	2	170044660	170044660	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:170044660C>T	ENST00000263816.3	-	49	9433	c.9148G>A	c.(9148-9150)Gtc>Atc	p.V3050I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3050	LDL-receptor class A 24. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.V3050I(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TCATCACAGACGAAGGTTTTA	0.512																																						ENST00000263816.3																			1	Substitution - Missense(1)	p.V3050I(1)	central_nervous_system(1)	biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(9148-9150)Gtc>Atc		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						149.0	136.0	140.0					2																	170044660		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170044660C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.9148G>A	2.37:g.170044660C>T	ENSP00000263816:p.Val3050Ile						p.V3050I	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	49	9433	-			3050			LDL-receptor class A 24.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.9148G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.262840	0.23051	.	.	ENSG00000081479	ENST00000263816	D	0.96104	-3.91	5.68	-2.47	0.06442	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.728006	0.13884	N	0.356140	D	0.88779	0.6529	L	0.39467	1.215	0.09310	N	1	B	0.18166	0.026	B	0.22753	0.041	T	0.76427	-0.2963	10	0.23891	T	0.37	.	1.925	0.03315	0.1068:0.2665:0.2349:0.3918	.	3050	P98164	LRP2_HUMAN	I	3050	ENSP00000263816:V3050I	ENSP00000263816:V3050I	V	-	1	0	LRP2	169752906	0.000000	0.05858	0.000000	0.03702	0.368000	0.29767	-0.893000	0.04127	-0.239000	0.09710	0.650000	0.86243	GTC		0.512	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		14	474	0	0	0	1	0	14	474				
IGHV1OR15-9	390531	broad.mit.edu	37	15	20169960	20169960	+	RNA	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr15:20169960G>A	ENST00000338912.5	-	0	311									immunoglobulin heavy variable 1/OR15-9 (non-functional)																		CAGATCTCAGGCTGCTTAGCT	0.527																																						ENST00000338912.5																			0																				217.0	211.0	213.0					15																	20169960		2112	4224	6336			0							g.chr15:20169960G>A	L25542		15q11.1	2013-10-18	2008-08-22		ENSG00000188403	ENSG00000188403		"""Immunoglobulins / IGH orphons"""	5569	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR15-9"", ""V-set and immunoglobulin domain containing 7"""	VSIG7		7959766	Standard	NG_032069		Approved	IGHV1/OR15-9, IGHV1OR159			OTTHUMG00000171652		15.37:g.20169960G>A														0	311	-									RNA	SNP	ENST00000338912.5	37																																																																																						0.527	IGHV1OR15-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000414646.4			6	846	0	0	0	1	0	6	846				
TAAR6	319100	broad.mit.edu	37	6	132891982	132891982	+	Silent	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr6:132891982C>T	ENST00000275198.1	+	1	522	c.522C>T	c.(520-522)gaC>gaT	p.D174D		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	174					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		GTGTCTATGACGATGGGCTGG	0.463																																						ENST00000275198.1																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(520-522)gaC>gaT		trace amine associated receptor 6							193.0	193.0	193.0					6																	132891982		2203	4300	6503	SO:0001819	synonymous_variant	319100					plasma membrane	G-protein coupled receptor activity	g.chr6:132891982C>T	AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"""GPCR / Class A : Trace amine associated receptors"""	20978	protein-coding gene	gene with protein product		608923	"""trace amine receptor 4"""	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.522C>T	6.37:g.132891982C>T							p.D174D	NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)	1	522	+	Breast(56;0.112)		174					Q5VUQ4	Silent	SNP	ENST00000275198.1	37	c.522C>T	CCDS5155.1																																																																																				0.463	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067		431	295	0	0	0	1	0	431	295				
CLEC14A	161198	broad.mit.edu	37	14	38724315	38724315	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr14:38724315G>A	ENST00000342213.2	-	1	1259	c.913C>T	c.(913-915)Cgc>Tgc	p.R305C		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	305						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GCCGGCGGGCGCCTGGTGGGC	0.652																																						ENST00000342213.2																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(913-915)Cgc>Tgc		C-type lectin domain family 14, member A							44.0	48.0	47.0					14																	38724315		2198	4289	6487	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38724315G>A		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.913C>T	14.37:g.38724315G>A	ENSP00000353013:p.Arg305Cys						p.R305C	NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	1259	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		305					Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.913C>T	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	G	9.759	1.169579	0.21621	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	T	0.74421	-0.84	3.81	-1.36	0.09085	.	1.546410	0.04567	N	0.392666	T	0.65291	0.2677	N	0.14661	0.345	0.09310	N	1	P	0.47350	0.894	P	0.50825	0.651	T	0.56745	-0.7928	10	0.42905	T	0.14	-1.2236	6.1391	0.20249	0.1011:0.0:0.283:0.6159	.	305	Q86T13	CLC14_HUMAN	C	305;70	ENSP00000353013:R305C	ENSP00000353013:R305C	R	-	1	0	CLEC14A	37794066	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.140000	0.16056	-0.246000	0.09611	-1.608000	0.00805	CGC		0.652	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		239	232	0	0	0	1	0	239	232				
RDM1	201299	broad.mit.edu	37	17	34247233	34247233	+	Silent	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr17:34247233G>A	ENST00000293273.6	-	6	756	c.711C>T	c.(709-711)atC>atT	p.I237I	RDM1_ENST00000394529.3_Silent_p.I214I|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000419453.2_Silent_p.I181I|RDM1_ENST00000425909.3_Intron|RDM1_ENST00000431884.2_Silent_p.I204I	NM_145654.3	NP_663629.1	Q8NG50	RDM1_HUMAN	RAD52 motif containing 1	237					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TGACACCTACGATGTCTTCAC	0.368								Other identified genes with known or suspected DNA repair function																														ENST00000394529.3																			0				breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9						c.(640-642)atC>atT	Other identified genes with known or suspected DNA repair function	RAD52 motif 1							123.0	115.0	118.0					17																	34247233		2203	4300	6503	SO:0001819	synonymous_variant	201299				DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding	g.chr17:34247233G>A	AB080728	CCDS11301.1, CCDS42299.1, CCDS54111.1, CCDS54108.1, CCDS54109.1, CCDS54110.1, CCDS59280.1, CCDS59281.1	17q11.2	2014-04-10	2014-04-10	2005-10-20	ENSG00000187456	ENSG00000278023		"""RNA binding motif (RRM) containing"""	19950	protein-coding gene	gene with protein product		612896	"""RAD52 homolog B (S. cerevisiae)"", ""RAD52 motif 1"""	RAD52B		15611051	Standard	NM_001163120		Approved	MGC33977	uc002hkh.3	Q8NG50	OTTHUMG00000188399	ENST00000293273.6:c.711C>T	17.37:g.34247233G>A						RDM1_ENST00000431884.2_Silent_p.I204I|RDM1_ENST00000293273.6_Silent_p.I237I|RDM1_ENST00000425909.3_Intron|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000419453.2_Silent_p.I181I	p.I214I	NM_001163130.1	NP_001156602.1	Q8NG50	RDM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	5	1128	-		Ovarian(249;0.17)	237					A0JP55|A8MV46|A8MY68|A8MZ92|A8RCS5|A8RCT0|A8RCT5|A8RCT8|A8RCU3|A8RCU8|A8RCW0|A8RCW5	Silent	SNP	ENST00000293273.6	37	c.642C>T	CCDS11301.1																																																																																				0.368	RDM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256588.2	NM_145654		9	310	0	0	0	1	0	9	310				
ESR1	2099	broad.mit.edu	37	6	152420041	152420041	+	Silent	SNP	G	G	A	rs185775221		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr6:152420041G>A	ENST00000206249.3	+	8	2090	c.1728G>A	c.(1726-1728)tcG>tcA	p.S576S	ESR1_ENST00000427531.2_Intron|ESR1_ENST00000440973.1_Silent_p.S576S|ESR1_ENST00000406599.1_Silent_p.S315S|ESR1_ENST00000338799.5_Silent_p.S576S|ESR1_ENST00000456483.2_Silent_p.S464S|ESR1_ENST00000443427.1_Silent_p.S576S	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	576	Interaction with AKAP13.|Self-association.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	CTACTTCATCGCATTCCTTGC	0.607																																						ENST00000440973.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49						c.(1726-1728)tcG>tcA		estrogen receptor 1	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	G	,,,	0,4406		0,0,2203	76.0	69.0	71.0		1728,1728,1728,1728	-3.2	0.4	6		71	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ESR1	NM_000125.3,NM_001122740.1,NM_001122741.1,NM_001122742.1	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	576/596,576/596,576/596,576/596	152420041	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152420041G>A	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1728G>A	6.37:g.152420041G>A						ESR1_ENST00000443427.1_Silent_p.S576S|ESR1_ENST00000544394.1_Intron|ESR1_ENST00000406599.1_Silent_p.S315S|ESR1_ENST00000338799.5_Silent_p.S576S|ESR1_ENST00000456483.2_Silent_p.S464S|ESR1_ENST00000206249.3_Silent_p.S576S	p.S576S	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	10	2098	+		Ovarian(120;0.0448)	576			Interaction with AKAP13.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Silent	SNP	ENST00000206249.3	37	c.1728G>A	CCDS5234.1																																																																																				0.607	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			27	139	0	0	0	1	0	27	139				
GPR128	84873	broad.mit.edu	37	3	100362231	100362231	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr3:100362231C>T	ENST00000273352.3	+	7	1088	c.820C>T	c.(820-822)Cgc>Tgc	p.R274C	SNORA31_ENST00000517180.1_RNA|GPR128_ENST00000475887.1_Intron	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	274					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TTCAAATGTTCGCTTCTCTGT	0.393																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(820-822)Cgc>Tgc		G protein-coupled receptor 128							145.0	147.0	146.0					3																	100362231		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100362231C>T	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.820C>T	3.37:g.100362231C>T	ENSP00000273352:p.Arg274Cys					GPR128_ENST00000475887.1_Intron	p.R274C	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			7	1088	+			274					Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.820C>T	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123655	0.56613	.	.	ENSG00000144820	ENST00000273352	T	0.38887	1.11	4.91	3.99	0.46301	.	1.037960	0.07678	N	0.936641	T	0.44286	0.1286	L	0.47716	1.5	0.37010	D	0.895695	D	0.69078	0.997	P	0.47299	0.543	T	0.49476	-0.8936	10	0.56958	D	0.05	.	10.5489	0.45077	0.1915:0.8085:0.0:0.0	.	274	Q96K78	GP128_HUMAN	C	274	ENSP00000273352:R274C	ENSP00000273352:R274C	R	+	1	0	GPR128	101844921	0.640000	0.27243	0.347000	0.25668	0.122000	0.20287	1.120000	0.31271	2.553000	0.86117	0.650000	0.86243	CGC		0.393	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			123	420	0	0	0	1	0	123	420				
MLLT3	4300	broad.mit.edu	37	9	20414373	20414373	+	Silent	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:20414373G>A	ENST00000380338.4	-	5	757	c.471C>T	c.(469-471)agC>agT	p.S157S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S|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	157	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.S157S(5)		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)		tgctgctgctgctactgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S157S(5)	endometrium(3)|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.(469-471)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	14.0	12.0					9																	20414373		1757	3647	5404	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414373G>A	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.471C>T	9.37:g.20414373G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S	p.S157S	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	757	-			157			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.471C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	202	0	0	0	1	0	5	202				
RALGPS1	9649	broad.mit.edu	37	9	129728136	129728136	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:129728136C>T	ENST00000259351.5	+	3	338	c.71C>T	c.(70-72)tCg>tTg	p.S24L	RALGPS1_ENST00000373436.1_Missense_Mutation_p.S24L|RALGPS1_ENST00000394022.3_Missense_Mutation_p.S24L|RALGPS1_ENST00000424082.2_Missense_Mutation_p.S24L|RALGPS1_ENST00000394011.3_Missense_Mutation_p.S24L|RALGPS1_ENST00000480993.1_3'UTR|RALGPS1_ENST00000373434.1_Missense_Mutation_p.S24L	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	24	Poly-Ser.				intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AGCAGCAGCTCGGACTCTCTG	0.532																																						ENST00000259351.5																			0				kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(70-72)tCg>tTg		Ral GEF with PH domain and SH3 binding motif 1							84.0	81.0	82.0					9																	129728136		2203	4300	6503	SO:0001583	missense	9649				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr9:129728136C>T	AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"""Pleckstrin homology (PH) domain containing"""	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.71C>T	9.37:g.129728136C>T	ENSP00000259351:p.Ser24Leu					RALGPS1_ENST00000394022.3_Missense_Mutation_p.S24L|RALGPS1_ENST00000373434.1_Missense_Mutation_p.S24L|RALGPS1_ENST00000394011.3_Missense_Mutation_p.S24L|RALGPS1_ENST00000480993.1_3'UTR|RALGPS1_ENST00000424082.2_Missense_Mutation_p.S24L|RALGPS1_ENST00000373436.1_Missense_Mutation_p.S24L	p.S24L	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN			3	338	+			24			Poly-Ser.		B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP	ENST00000259351.5	37	c.71C>T	CCDS35143.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778406	0.70107	.	.	ENSG00000136828	ENST00000259351;ENST00000424082;ENST00000394022;ENST00000373439;ENST00000394011;ENST00000319107;ENST00000373436;ENST00000373434	T;T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61;1.61	5.55	5.55	0.83447	Ras guanine nucleotide exchange factor, domain (1);	0.410909	0.21739	N	0.069846	T	0.43366	0.1244	L	0.55481	1.735	0.54753	D	0.999987	D;D;D;D	0.67145	0.985;0.996;0.991;0.957	B;P;P;B	0.51945	0.265;0.685;0.452;0.17	T	0.15636	-1.0430	10	0.40728	T	0.16	.	18.2758	0.90083	0.0:1.0:0.0:0.0	.	24;24;24;24	E9PBQ5;Q5JS13-3;Q5JS13-2;Q5JS13	.;.;.;RGPS1_HUMAN	L	24	ENSP00000259351:S24L;ENSP00000415630:S24L;ENSP00000377590:S24L;ENSP00000377579:S24L;ENSP00000317149:S24L;ENSP00000362535:S24L;ENSP00000362533:S24L	ENSP00000259351:S24L	S	+	2	0	RALGPS1	128767957	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.093000	0.64517	2.607000	0.88179	0.561000	0.74099	TCG		0.532	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636		5	371	0	0	0	1	0	5	371				
KCTD10	83892	broad.mit.edu	37	12	109893952	109893952	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr12:109893952C>T	ENST00000228495.6	-	6	975	c.694G>A	c.(694-696)Gtc>Atc	p.V232I	KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000540089.1_Missense_Mutation_p.V51I|KCTD10_ENST00000540411.1_Missense_Mutation_p.V206I|KCTD10_ENST00000424763.2_Missense_Mutation_p.V51I	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	232					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						GTGGCATAGACGATGGAGGTA	0.468																																						ENST00000228495.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						c.(694-696)Gtc>Atc		potassium channel tetramerization domain containing 10							131.0	115.0	120.0					12																	109893952		2203	4300	6503	SO:0001583	missense	83892				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:109893952C>T	BC040062	CCDS9128.1	12q24.12	2013-06-20	2013-06-20		ENSG00000110906	ENSG00000110906		"""BTB/POZ domain containing"""	23236	protein-coding gene	gene with protein product		613421	"""potassium channel tetramerisation domain containing 10"""			12477932	Standard	XM_005253946		Approved	MSTP028, BTBD28	uc001toi.1	Q9H3F6	OTTHUMG00000169253	ENST00000228495.6:c.694G>A	12.37:g.109893952C>T	ENSP00000228495:p.Val232Ile					KCTD10_ENST00000540089.1_Missense_Mutation_p.V51I|KCTD10_ENST00000424763.2_Missense_Mutation_p.V51I|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000540411.1_Missense_Mutation_p.V206I	p.V232I	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN			6	975	-			232					Q53HN2|Q59FV1|Q6PL47|Q96SU0	Missense_Mutation	SNP	ENST00000228495.6	37	c.694G>A	CCDS9128.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.043721	0.93685	.	.	ENSG00000110906	ENST00000228495;ENST00000540089;ENST00000545759;ENST00000424763;ENST00000540411;ENST00000542954;ENST00000535546;ENST00000540402;ENST00000540355	T;T	0.55930	0.6;0.49	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.75428	0.3848	M	0.84683	2.71	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.75484	0.986;0.897;0.978	T	0.80077	-0.1533	10	0.72032	D	0.01	-31.417	17.0435	0.86496	0.0:1.0:0.0:0.0	.	206;209;232	F5GWA4;Q9H3F6-2;Q9H3F6	.;.;BACD3_HUMAN	I	232;51;74;51;206;51;51;51;51	ENSP00000228495:V232I;ENSP00000441672:V206I	ENSP00000228495:V232I	V	-	1	0	KCTD10	108378335	1.000000	0.71417	0.999000	0.59377	0.872000	0.50106	7.651000	0.83577	2.581000	0.87130	0.555000	0.69702	GTC		0.468	KCTD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403099.1	NM_031954		5	239	0	0	0	1	0	5	239				
ZNF554	115196	broad.mit.edu	37	19	2834138	2834138	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:2834138G>A	ENST00000317243.5	+	5	1103	c.905G>A	c.(904-906)gGg>gAg	p.G302E	ZNF554_ENST00000591265.1_3'UTR	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	302					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGGAAAATGGGCAGTCATTG	0.478																																						ENST00000317243.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(904-906)gGg>gAg		zinc finger protein 554							88.0	94.0	92.0					19																	2834138		2003	4164	6167	SO:0001583	missense	115196				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2834138G>A	AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"""Zinc fingers, C2H2-type"", ""-"""	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.905G>A	19.37:g.2834138G>A	ENSP00000321132:p.Gly302Glu					ZNF554_ENST00000591265.1_3'UTR	p.G302E	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_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)	5	1103	+		Hepatocellular(1079;0.137)	302					Q8NAT3|Q9BWN3	Missense_Mutation	SNP	ENST00000317243.5	37	c.905G>A	CCDS42462.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012780	0.35511	.	.	ENSG00000172006	ENST00000317243	T	0.34859	1.34	2.77	0.42	0.16444	.	.	.	.	.	T	0.30293	0.0760	L	0.60845	1.875	0.21861	N	0.999506	B	0.24721	0.11	B	0.20184	0.028	T	0.31888	-0.9927	9	0.72032	D	0.01	.	4.7363	0.12989	0.3488:0.0:0.6512:0.0	.	302	Q86TJ5	ZN554_HUMAN	E	302	ENSP00000321132:G302E	ENSP00000321132:G302E	G	+	2	0	ZNF554	2785138	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.961000	0.29267	0.039000	0.15632	-0.245000	0.11935	GGG		0.478	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303		9	427	0	0	0	1	0	9	427				
PPEF2	5470	broad.mit.edu	37	4	76787474	76787474	+	Silent	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr4:76787474C>T	ENST00000286719.7	-	15	2144	c.1788G>A	c.(1786-1788)gcG>gcA	p.A596A		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	596	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CAGACTCCACCGCTGCTGCCC	0.522																																					NSCLC(105;1359 1603 15961 44567 47947)	ENST00000286719.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(1786-1788)gcG>gcA		protein phosphatase, EF-hand calcium binding domain 2							88.0	76.0	80.0					4																	76787474		2203	4300	6503	SO:0001819	synonymous_variant	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76787474C>T	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1788G>A	4.37:g.76787474C>T							p.A596A	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		15	2144	-			596			EF-hand 1.		O14831	Silent	SNP	ENST00000286719.7	37	c.1788G>A	CCDS34013.1																																																																																				0.522	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		8	232	0	0	0	1	0	8	232				
PLA2G4B	100137049	broad.mit.edu	37	15	42140039	42140039	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr15:42140039G>A	ENST00000452633.1	+	21	2679	c.2327G>A	c.(2326-2328)cGg>cAg	p.R776Q	PLA2G4B_ENST00000542534.2_Missense_Mutation_p.R1007Q|JMJD7-PLA2G4B_ENST00000342159.4_3'UTR|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.R1007Q|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.R776Q			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	776	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		CAGCGGAGGCGGCAGCGCAGG	0.627																																						ENST00000382448.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						c.(3019-3021)cGg>cAg									34.0	32.0	33.0					15																	42140039		2203	4300	6503	SO:0001583	missense	0				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42140039G>A	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.2327G>A	15.37:g.42140039G>A	ENSP00000396045:p.Arg776Gln					PLA2G4B_ENST00000452633.1_Missense_Mutation_p.R776Q|JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.R776Q|JMJD7-PLA2G4B_ENST00000342159.4_3'UTR	p.R1007Q	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN			25	3029	+			776					B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	c.3020G>A	CCDS45241.1	.	.	.	.	.	.	.	.	.	.	.	12.52	1.963895	0.34659	.	.	ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000458483;ENST00000452633	T;T;T	0.12361	2.69;2.69;2.69	4.23	-0.342	0.12635	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (1);	0.396349	0.21415	N	0.074907	T	0.10723	0.0262	L	0.46157	1.445	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25012	-1.0144	10	0.33141	T	0.24	-9.285	8.1858	0.31337	0.4372:0.0:0.5628:0.0	.	776;1007	P0C869;P0C869-6	PA24B_HUMAN;.	Q	1007;776;776	ENSP00000371886:R1007Q;ENSP00000416610:R776Q;ENSP00000396045:R776Q	ENSP00000371886:R1007Q	R	+	2	0	JMJD7-PLA2G4B;PLA2G4B	39927331	0.000000	0.05858	0.002000	0.10522	0.445000	0.32107	-1.039000	0.03550	-0.284000	0.09102	-0.459000	0.05422	CGG		0.627	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		14	95	0	0	0	1	0	14	95				
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C	rs200164543		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95								p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378																																						ENST00000278882.3																			4	Substitution - coding silent(4)	p.G95G(4)	urinary_tract(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)ggG>ggC																																						SO:0001819	synonymous_variant	0							g.chr20:29628283G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.285G>C	20.37:g.29628283G>C						FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G	p.G95G							6	665	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.285G>C																																																																																					0.378	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		15	465	0	0	0	1	0	15	465				
DPY19L2P1	554236	broad.mit.edu	37	7	35144338	35144338	+	RNA	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:35144338G>A	ENST00000436258.1	-	0	1728							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										AATGGCAAGGGCAGTAAACGC	0.348																																						ENST00000436258.1																			0																																																			0							g.chr7:35144338G>A	BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35144338G>A														0	1728	-								B4E2E3	RNA	SNP	ENST00000436258.1	37																																																																																						0.348	DPY19L2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338113.1			150	180	0	0	0	1	0	150	180				
KIAA1462	57608	broad.mit.edu	37	10	30315575	30315575	+	Missense_Mutation	SNP	G	G	A	rs368139420		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr10:30315575G>A	ENST00000375377.1	-	3	3603	c.3502C>T	c.(3502-3504)Cgg>Tgg	p.R1168W		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1168					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGAGGAGCCCGCCTGGCACTG	0.602																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(3502-3504)Cgg>Tgg		KIAA1462							71.0	74.0	73.0					10																	30315575		1875	4113	5988	SO:0001583	missense	57608							g.chr10:30315575G>A	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3502C>T	10.37:g.30315575G>A	ENSP00000364526:p.Arg1168Trp						p.R1168W	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	3603	-			1168					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.3502C>T	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.882896	0.51908	.	.	ENSG00000165757	ENST00000375377	T	0.14144	2.53	4.16	0.249	0.15531	.	0.692628	0.12901	N	0.429779	T	0.29223	0.0727	L	0.54323	1.7	0.09310	N	1	D	0.89917	1.0	D	0.75484	0.986	T	0.10474	-1.0628	10	0.66056	D	0.02	-8.6314	11.3977	0.49851	0.0:0.0:0.4667:0.5333	.	1168	Q9P266	K1462_HUMAN	W	1168	ENSP00000364526:R1168W	ENSP00000364526:R1168W	R	-	1	2	KIAA1462	30355581	0.000000	0.05858	0.001000	0.08648	0.165000	0.22458	-0.953000	0.03877	0.291000	0.22468	-0.182000	0.12963	CGG		0.602	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		22	236	0	0	0	1	0	22	236				
MUC17	140453	broad.mit.edu	37	7	100681963	100681963	+	Silent	SNP	T	T	C			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:100681963T>C	ENST00000306151.4	+	3	7330	c.7266T>C	c.(7264-7266)gtT>gtC	p.V2422V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2422	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAACTCCTGTTGACACCAGCA	0.512																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(7264-7266)gtT>gtC		mucin 17, cell surface associated							373.0	361.0	365.0					7																	100681963		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681963T>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7266T>C	7.37:g.100681963T>C							p.V2422V	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	7330	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2422			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.7266T>C	CCDS34711.1																																																																																				0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		12	2294	0	0	0	1	0	12	2294				
NEB	4703	broad.mit.edu	37	2	152476229	152476229	+	Silent	SNP	G	G	A	rs144673752	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:152476229G>A	ENST00000172853.10	-	69	10026	c.9879C>T	c.(9877-9879)ggC>ggT	p.G3293G	NEB_ENST00000409198.1_Silent_p.G3293G|NEB_ENST00000603639.1_Silent_p.G3536G|NEB_ENST00000427231.2_Silent_p.G3536G|NEB_ENST00000397345.3_Silent_p.G3536G|NEB_ENST00000604864.1_Silent_p.G3536G			P20929	NEBU_HUMAN	nebulin	3293					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGCTCGGGCGCCAATGTGGT	0.438													G|||	4	0.000798722	0.003	0.0	5008	,	,		22280	0.0		0.0	False		,,,				2504	0.0					ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(10606-10608)ggC>ggT		nebulin		G	,,	1,3975		0,1,1987	83.0	81.0	82.0		10608,10608,9879	-10.9	0.5	2	dbSNP_134	82	0,8316		0,0,4158	no	coding-synonymous,coding-synonymous,coding-synonymous	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	,,	0,1,6145	AA,AG,GG		0.0,0.0252,0.0081	,,	3536/8526,3536/8526,3293/6670	152476229	1,12291	1988	4158	6146	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152476229G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.9879C>T	2.37:g.152476229G>A						NEB_ENST00000172853.10_Silent_p.G3293G|NEB_ENST00000604864.1_Silent_p.G3536G|NEB_ENST00000603639.1_Silent_p.G3536G|NEB_ENST00000427231.2_Silent_p.G3536G|NEB_ENST00000409198.1_Silent_p.G3293G	p.G3536G	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	73	10810	-			3536					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.10608C>T																																																																																					0.438	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		7	257	0	0	0	1	0	7	257				
PCDHGA1	56114	broad.mit.edu	37	5	140712187	140712187	+	Missense_Mutation	SNP	G	G	A	rs577475018	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:140712187G>A	ENST00000517417.1	+	1	1936	c.1936G>A	c.(1936-1938)Gtc>Atc	p.V646I	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.V646I	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	646	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGTGGCCGTCCAGGACCA	0.706													g|||	2	0.000399361	0.0	0.0	5008	,	,		14525	0.001		0.001	False		,,,				2504	0.0					ENST00000517417.1																			0				breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(1936-1938)Gtc>Atc									37.0	44.0	42.0					5																	140712187		2200	4297	6497	SO:0001583	missense	0							g.chr5:140712187G>A	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1936G>A	5.37:g.140712187G>A	ENSP00000431083:p.Val646Ile					PCDHGA1_ENST00000378105.3_Missense_Mutation_p.V646I	p.V646I	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1936	+								Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.1936G>A	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742092	0.69418	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.61510	0.1;0.1	3.73	2.86	0.33363	Cadherin (4);Cadherin-like (1);	0.000000	0.44483	D	0.000457	T	0.63908	0.2551	M	0.70787	2.145	0.24417	N	0.994634	D;P	0.53619	0.961;0.861	P;P	0.51324	0.666;0.537	T	0.59257	-0.7488	10	0.66056	D	0.02	.	11.2133	0.48813	0.0926:0.0:0.9074:0.0	.	646;646	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	I	646	ENSP00000431083:V646I;ENSP00000367345:V646I	ENSP00000367345:V646I	V	+	1	0	PCDHGA1	140692371	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	6.402000	0.73260	0.920000	0.36970	0.580000	0.79431	GTC		0.706	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		8	291	0	0	0	1	0	8	291				
USP29	57663	broad.mit.edu	37	19	57642144	57642144	+	Missense_Mutation	SNP	G	G	A	rs570824915		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:57642144G>A	ENST00000254181.4	+	4	2555	c.2101G>A	c.(2101-2103)Gta>Ata	p.V701I	USP29_ENST00000598197.1_Missense_Mutation_p.V701I	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	701	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		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;0.026)		CAATACATTCGTAGAGTTCAA	0.438													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21195	0.0		0.0	False		,,,				2504	0.0					ENST00000254181.4																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(2101-2103)Gta>Ata		ubiquitin specific peptidase 29							76.0	72.0	73.0					19																	57642144		2203	4300	6503	SO:0001583	missense	0				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57642144G>A		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.2101G>A	19.37:g.57642144G>A	ENSP00000254181:p.Val701Ile					USP29_ENST00000598197.1_Missense_Mutation_p.V701I	p.V701I	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	2555	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	701						Missense_Mutation	SNP	ENST00000254181.4	37	c.2101G>A	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	8.947	0.967330	0.18659	.	.	ENSG00000131864	ENST00000254181	T	0.46063	0.88	2.33	0.159	0.14968	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.	.	.	.	T	0.46229	0.1382	L	0.50333	1.59	0.09310	N	1	D	0.71674	0.998	P	0.60609	0.877	T	0.35992	-0.9766	9	0.21014	T	0.42	-2.763	6.0941	0.20010	0.1918:0.0:0.8082:0.0	.	701	Q9HBJ7	UBP29_HUMAN	I	701	ENSP00000254181:V701I	ENSP00000254181:V701I	V	+	1	0	USP29	62333956	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.390000	0.02528	0.106000	0.17784	-1.276000	0.01395	GTA		0.438	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			7	221	0	0	0	1	0	7	221				
VARS	7407	broad.mit.edu	37	6	31749280	31749280	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr6:31749280G>A	ENST00000375663.3	-	21	2962	c.2522C>T	c.(2521-2523)aCg>aTg	p.T841M	VARS_ENST00000482996.1_5'UTR|Y_RNA_ENST00000364685.1_RNA	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	841					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CAGCCTGCCCGTGAGCTTCAG	0.642																																						ENST00000375663.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.(2521-2523)aCg>aTg		valyl-tRNA synthetase	L-Valine(DB00161)						39.0	35.0	36.0					6																	31749280		1510	2708	4218	SO:0001583	missense	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31749280G>A	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.2522C>T	6.37:g.31749280G>A	ENSP00000364815:p.Thr841Met					VARS_ENST00000482996.1_5'UTR	p.T841M	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN			21	2962	-			841					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	c.2522C>T	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948684	0.53186	.	.	ENSG00000204394	ENST00000375663	T	0.23348	1.91	5.12	5.12	0.69794	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.12263	0.0298	N	0.26162	0.8	0.80722	D	1	P	0.44344	0.833	B	0.40038	0.317	T	0.02404	-1.1164	10	0.52906	T	0.07	-25.2307	16.0986	0.81148	0.0:0.0:1.0:0.0	.	841	P26640	SYVC_HUMAN	M	841	ENSP00000364815:T841M	ENSP00000364815:T841M	T	-	2	0	VARS	31857259	1.000000	0.71417	0.961000	0.40146	0.819000	0.46315	5.801000	0.69115	2.664000	0.90586	0.655000	0.94253	ACG		0.642	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		5	87	0	0	0	1	0	5	87				
TSHZ3	57616	broad.mit.edu	37	19	31769889	31769889	+	Silent	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:31769889G>A	ENST00000240587.4	-	2	1137	c.810C>T	c.(808-810)gaC>gaT	p.D270D		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	270					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CCTTCTGGGCGTCTTCCTTCC	0.512																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(808-810)gaC>gaT		teashirt zinc finger homeobox 3							170.0	148.0	155.0					19																	31769889		2203	4300	6503	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769889G>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.810C>T	19.37:g.31769889G>A							p.D270D	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	1137	-	Esophageal squamous(110;0.226)		270					Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.810C>T	CCDS12421.2																																																																																				0.512	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		25	556	0	0	0	1	0	25	556				
ALDH1A2	8854	broad.mit.edu	37	15	58247457	58247457	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr15:58247457C>T	ENST00000249750.4	-	13	2262	c.1495G>A	c.(1495-1497)Ggc>Agc	p.G499S	ALDH1A2_ENST00000559517.1_Missense_Mutation_p.G403S|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.G461S|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.G470S|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.G478S	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	499					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	TCCCGCAAGCCAAATTCTCCC	0.542																																						ENST00000249750.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1495-1497)Ggc>Agc		aldehyde dehydrogenase 1 family, member A2	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						122.0	122.0	122.0					15																	58247457		2192	4292	6484	SO:0001583	missense	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58247457C>T	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.1495G>A	15.37:g.58247457C>T	ENSP00000249750:p.Gly499Ser					ALDH1A2_ENST00000558231.1_Missense_Mutation_p.G470S|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.G478S|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.G461S|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.G403S	p.G499S	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	13	2262	-			499					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	ENST00000249750.4	37	c.1495G>A	CCDS10163.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.322360	0.41096	.	.	ENSG00000128918	ENST00000249750;ENST00000430119;ENST00000543386;ENST00000347587;ENST00000537372	T;T;T	0.18960	2.18;2.18;2.18	5.95	5.03	0.67393	Aldehyde dehydrogenase domain (1);Aldehyde/histidinol dehydrogenase (1);	0.093230	0.64402	D	0.000001	T	0.26122	0.0637	L	0.44542	1.39	0.80722	D	1	P;B;P;P	0.42203	0.773;0.3;0.673;0.651	P;B;B;P	0.44422	0.449;0.209;0.351;0.449	T	0.02471	-1.1154	10	0.87932	D	0	.	15.596	0.76583	0.1387:0.8613:0.0:0.0	.	470;478;461;499	B4DH89;F5H2Y9;O94788-2;O94788	.;.;.;AL1A2_HUMAN	S	499;403;470;461;478	ENSP00000249750:G499S;ENSP00000309623:G461S;ENSP00000438296:G478S	ENSP00000249750:G499S	G	-	1	0	ALDH1A2	56034749	1.000000	0.71417	0.562000	0.28370	0.218000	0.24690	6.023000	0.70848	1.501000	0.48654	0.655000	0.94253	GGC		0.542	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1			9	372	0	0	0	1	0	9	372				
ZNF845	91664	broad.mit.edu	37	19	53856761	53856761	+	Missense_Mutation	SNP	T	T	C	rs528924232		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:53856761T>C	ENST00000595091.1	+	5	3052	c.2833T>C	c.(2833-2835)Tgt>Cgt	p.C945R	ZNF845_ENST00000458035.1_Missense_Mutation_p.C945R			Q96IR2	ZN845_HUMAN	zinc finger protein 845	945					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C945R(1)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACCTTACAAGTGTAATGAATG	0.348																																						ENST00000458035.1																			1	Substitution - Missense(1)	p.C945R(1)	kidney(1)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2833-2835)Tgt>Cgt		zinc finger protein 845							25.0	23.0	24.0					19																	53856761		692	1590	2282	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856761T>C	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2833T>C	19.37:g.53856761T>C	ENSP00000470005:p.Cys945Arg					ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R	p.C945R	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2950	+			945						Missense_Mutation	SNP	ENST00000595091.1	37	c.2833T>C	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	T	7.922	0.738844	0.15642	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	D	0.85258	-1.96	2.04	0.921	0.19403	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94417	0.8204	H	0.99336	4.52	0.38301	D	0.942985	D	0.89917	1.0	D	0.91635	0.999	D	0.91222	0.5007	9	0.66056	D	0.02	.	6.1858	0.20495	0.2258:0.0:0.0:0.7742	.	945	Q96IR2	ZN845_HUMAN	R	945;861	ENSP00000388311:C945R	ENSP00000412086:C861R	C	+	1	0	ZNF845	58548573	1.000000	0.71417	0.080000	0.20451	0.053000	0.15095	4.520000	0.60524	0.031000	0.15407	-0.871000	0.02989	TGT		0.348	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		7	139	0	0	0	1	0	7	139				
KPRP	448834	broad.mit.edu	37	1	152733041	152733041	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:152733041G>A	ENST00000606109.1	+	1	1005	c.977G>A	c.(976-978)cGa>cAa	p.R326Q	KPRP_ENST00000368773.1_Missense_Mutation_p.R326Q			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	326	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.R326Q(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCAAGTGCCGAATCGAGATT	0.617																																						ENST00000368773.1																			1	Substitution - Missense(1)	p.R326Q(1)	endometrium(1)	NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(976-978)cGa>cAa		keratinocyte proline-rich protein							44.0	44.0	44.0					1																	152733041		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152733041G>A	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.977G>A	1.37:g.152733041G>A	ENSP00000475216:p.Arg326Gln					KPRP_ENST00000606109.1_Missense_Mutation_p.R326Q	p.R326Q	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1035	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		326			Pro-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.977G>A	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936296	0.73442	.	.	ENSG00000203786	ENST00000368773	T	0.14266	2.52	5.3	5.3	0.74995	.	0.000000	0.42053	D	0.000773	T	0.18383	0.0441	L	0.34521	1.04	0.35006	D	0.756441	D	0.89917	1.0	D	0.87578	0.998	T	0.01146	-1.1437	10	0.72032	D	0.01	-14.6578	14.8021	0.69924	0.0:0.0:1.0:0.0	.	326	Q5T749	KPRP_HUMAN	Q	326	ENSP00000357762:R326Q	ENSP00000357762:R326Q	R	+	2	0	KPRP	150999665	0.952000	0.32445	0.869000	0.34112	0.262000	0.26303	3.920000	0.56446	2.646000	0.89796	0.462000	0.41574	CGA		0.617	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		8	231	0	0	0	1	0	8	231				
LOC148709	148709	broad.mit.edu	37	1	202842822	202842822	+	lincRNA	SNP	C	C	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:202842822C>A	ENST00000456105.2	+	0	774					NR_002929.2																						ACACAGCCATCCAGGCTGTGC	0.572																																						ENST00000456105.2																			0																																																			0							g.chr1:202842822C>A																													1.37:g.202842822C>A								NR_002929.2						0	774	+									RNA	SNP	ENST00000456105.2	37																																																																																						0.572	RP11-480I12.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000099158.2			72	57	1	0	7.2426e-40	1	7.87606e-40	72	57				
BAGE2	85319	broad.mit.edu	37	21	11047546	11047546	+	RNA	SNP	C	C	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr21:11047546C>A	ENST00000470054.1	-	0	708							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTATGATACCCTTTGTCACAC	0.338																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11047546C>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11047546C>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	708	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.338	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		59	1497	1	0	1.30998e-17	1	1.4163e-17	59	1497				
P2RX7	5027	broad.mit.edu	37	12	121600237	121600237	+	Silent	SNP	C	C	T	rs200860979		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr12:121600237C>T	ENST00000546057.1	+	5	590	c.447C>T	c.(445-447)acC>acT	p.T149T	P2RX7_ENST00000377162.2_Silent_p.T149T|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000541446.1_5'UTR|P2RX7_ENST00000328963.5_Intron|P2RX7_ENST00000535250.1_Silent_p.T59T	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	149					apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GAATTCAGACCGGAAGGTGTG	0.552													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18786	0.0		0.0	False		,,,				2504	0.0					ENST00000546057.1																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19						c.(445-447)acC>acT		purinergic receptor P2X, ligand-gated ion channel, 7							86.0	80.0	82.0					12																	121600237		2203	4300	6503	SO:0001819	synonymous_variant	5027					integral to membrane	ATP binding|ion channel activity|receptor activity	g.chr12:121600237C>T	Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.447C>T	12.37:g.121600237C>T						P2RX7_ENST00000328963.5_Intron|P2RX7_ENST00000377162.2_Silent_p.T149T|P2RX7_ENST00000535250.1_Silent_p.T59T|P2RX7_ENST00000541446.1_5'UTR|P2RX7_ENST00000443520.3_3'UTR	p.T149T	NM_002562.5	NP_002553.3	A8K2Z0	A8K2Z0_HUMAN			5	590	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		149					A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Silent	SNP	ENST00000546057.1	37	c.447C>T	CCDS9213.1																																																																																				0.552	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402532.1	NM_002562		9	179	0	0	0	1	0	9	179				
DCK	1633	broad.mit.edu	37	4	71895154	71895154	+	3'UTR	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr4:71895154C>T	ENST00000286648.5	+	0	1239				DCK_ENST00000504952.1_Silent_p.F313F|DCK_ENST00000504730.1_3'UTR	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase						deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxycytidine kinase activity (GO:0004137)|drug binding (GO:0008144)|nucleoside kinase activity (GO:0019206)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Cytarabine(DB00987)|Decitabine(DB01262)|Emtricitabine(DB00879)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Lamivudine(DB00709)|Nelarabine(DB01280)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	TGTGTATCTTCGTAACTTCAT	0.313																																						ENST00000504952.1																			0				endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9						c.(937-939)ttC>ttT		deoxycytidine kinase	Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)						81.0	71.0	74.0					4																	71895154		692	1591	2283	SO:0001624	3_prime_UTR_variant	1633				purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity	g.chr4:71895154C>T	M60527	CCDS3548.1	4q13.3-q21.1	2008-02-05			ENSG00000156136	ENSG00000156136	2.7.1.74		2704	protein-coding gene	gene with protein product		125450				8406512	Standard	NM_000788		Approved		uc003hfx.3	P27707	OTTHUMG00000129908	ENST00000286648.5:c.*59C>T	4.37:g.71895154C>T						DCK_ENST00000286648.5_3'UTR|DCK_ENST00000504730.1_3'UTR	p.F313F			P27707	DCK_HUMAN	Lung(101;0.235)		8	1137	+			0					B2R8V6|Q5TZY7|Q6FI11	Silent	SNP	ENST00000286648.5	37	c.939C>T	CCDS3548.1																																																																																				0.313	DCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252159.2			6	213	0	0	0	1	0	6	213				
HNRNPH1	3187	broad.mit.edu	37	5	179044053	179044053	+	Splice_Site	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:179044053G>A	ENST00000356731.5	-	9	2651	c.1116C>T	c.(1114-1116)taC>taT	p.Y372Y	HNRNPH1_ENST00000393432.4_Splice_Site_p.Y372Y|HNRNPH1_ENST00000524180.1_5'Flank|HNRNPH1_ENST00000442819.2_Splice_Site_p.Y372Y|HNRNPH1_ENST00000510411.1_Silent_p.Y372Y|HNRNPH1_ENST00000329433.6_Splice_Site_p.Y372Y|HNRNPH1_ENST00000511300.2_Silent_p.Y102Y			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	372	2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						TTTGGCTACCGTAAGCACCAC	0.373																																						ENST00000356731.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						c.e9+1		heterogeneous nuclear ribonucleoprotein H1 (H)							105.0	102.0	103.0					5																	179044053		2203	4300	6503	SO:0001630	splice_region_variant	3187				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding	g.chr5:179044053G>A	BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"""RNA binding motif (RRM) containing"""	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.1117+1C>T	5.37:g.179044053G>A						HNRNPH1_ENST00000329433.6_Splice_Site_p.Y372_splice|HNRNPH1_ENST00000511300.2_Silent_p.Y102Y|HNRNPH1_ENST00000510411.1_Silent_p.Y372Y|HNRNPH1_ENST00000442819.2_Splice_Site_p.Y372_splice|HNRNPH1_ENST00000393432.4_Splice_Site_p.Y372_splice	p.Y372_splice			P31943	HNRH1_HUMAN			9	2651	-			372			2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.		B3KW86|D3DWQ2|Q6IBM4	Splice_Site	SNP	ENST00000356731.5	37	c.1117_splice	CCDS4446.1	.	.	.	.	.	.	.	.	.	.	g	12.51	1.960606	0.34565	.	.	ENSG00000169045	ENST00000521173	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	T	0.58750	0.2144	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57271	-0.7840	4	.	.	.	-9.1144	8.0021	0.30304	0.192:0.0:0.808:0.0	.	.	.	.	M	247	.	.	T	-	2	0	HNRNPH1	178976659	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.877000	0.28106	2.730000	0.93505	0.644000	0.83932	ACG		0.373	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	NM_005520	Silent	9	550	0	0	0	1	0	9	550				
NRXN2	9379	broad.mit.edu	37	11	64453315	64453315	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr11:64453315G>A	ENST00000377551.1	-	5	1166	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C	NRXN2_ENST00000265459.6_Missense_Mutation_p.R319C|NRXN2_ENST00000409571.1_Missense_Mutation_p.R319C|NRXN2_ENST00000377559.3_Missense_Mutation_p.R295C			Q9P2S2	NRX2A_HUMAN	neurexin 2	319	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGCAGGGTGCGGAAGGCCAGT	0.567																																						ENST00000265459.6																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(955-957)Cgc>Tgc		neurexin 2							366.0	291.0	317.0					11																	64453315		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64453315G>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.955C>T	11.37:g.64453315G>A	ENSP00000366774:p.Arg319Cys					NRXN2_ENST00000377551.1_Missense_Mutation_p.R319C|NRXN2_ENST00000409571.1_Missense_Mutation_p.R319C|NRXN2_ENST00000377559.3_Missense_Mutation_p.R295C	p.R319C	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN			6	1416	-			319			Laminin G-like 2.		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.955C>T	CCDS8077.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.042915|4.042915	0.75732|0.75732	.|.	.|.	ENSG00000110076|ENSG00000110076	ENST00000437746|ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571;ENST00000442300	.|D;D;D;D;D	.|0.84516	.|-1.86;-1.81;-1.86;-1.86;-1.86	4.17|4.17	4.17|4.17	0.49024|0.49024	.|Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.|0.000000	.|0.44097	.|U	.|0.000496	D|D	0.91637|0.91637	0.7357|0.7357	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	.|D;P	.|0.89917	.|1.0;0.628	.|D;B	.|0.76575	.|0.988;0.189	D|D	0.92845|0.92845	0.6292|0.6292	5|10	.|0.87932	.|D	.|0	.|.	14.3646|14.3646	0.66799|0.66799	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|295;319	.|Q9P2S2-2;Q9P2S2	.|.;NRX2A_HUMAN	L|C	108|319;295;319;295;319;90	.|ENSP00000366774:R319C;ENSP00000366782:R295C;ENSP00000265459:R319C;ENSP00000386416:R319C;ENSP00000388971:R90C	.|ENSP00000265459:R319C	P|R	-|-	2|1	0|0	NRXN2|NRXN2	64209891|64209891	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	2.587000|2.587000	0.46128|0.46128	2.062000|2.062000	0.61559|0.61559	0.467000|0.467000	0.42956|0.42956	CCG|CGC		0.567	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		8	323	0	0	0	1	0	8	323				
ZMYND8	23613	broad.mit.edu	37	20	45920611	45920611	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr20:45920611C>T	ENST00000311275.7	-	6	782	c.529G>A	c.(529-531)Gtt>Att	p.V177I	ZMYND8_ENST00000372023.3_Missense_Mutation_p.V172I|ZMYND8_ENST00000536340.1_Missense_Mutation_p.V204I|ZMYND8_ENST00000471951.2_Missense_Mutation_p.V197I|ZMYND8_ENST00000360911.3_Missense_Mutation_p.V172I|ZMYND8_ENST00000446994.2_Missense_Mutation_p.V114I|ZMYND8_ENST00000396281.4_Missense_Mutation_p.V177I|ZMYND8_ENST00000461685.1_Missense_Mutation_p.V197I|ZMYND8_ENST00000262975.4_Missense_Mutation_p.V177I|ZMYND8_ENST00000540497.1_Missense_Mutation_p.V172I|ZMYND8_ENST00000352431.2_Missense_Mutation_p.V197I|ZMYND8_ENST00000458360.2_Missense_Mutation_p.V172I|ZMYND8_ENST00000355972.4_Missense_Mutation_p.V177I|ZMYND8_ENST00000468376.2_5'UTR	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	177	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCCAATGGAACGGGCTTCTGG	0.433																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(529-531)Gtt>Att		zinc finger, MYND-type containing 8							98.0	87.0	91.0					20																	45920611		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45920611C>T	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.529G>A	20.37:g.45920611C>T	ENSP00000312237:p.Val177Ile					ZMYND8_ENST00000360911.3_Missense_Mutation_p.V172I|ZMYND8_ENST00000396281.4_Missense_Mutation_p.V177I|ZMYND8_ENST00000352431.2_Missense_Mutation_p.V197I|ZMYND8_ENST00000446994.2_Missense_Mutation_p.V114I|ZMYND8_ENST00000372023.3_Missense_Mutation_p.V172I|ZMYND8_ENST00000540497.1_Missense_Mutation_p.V172I|ZMYND8_ENST00000355972.4_Missense_Mutation_p.V177I|ZMYND8_ENST00000461685.1_Missense_Mutation_p.V197I|ZMYND8_ENST00000262975.4_Missense_Mutation_p.V177I|ZMYND8_ENST00000536340.1_Missense_Mutation_p.V204I|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000458360.2_Missense_Mutation_p.V172I|ZMYND8_ENST00000471951.2_Missense_Mutation_p.V197I	p.V177I			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		6	782	-			177			Bromo.		B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.529G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.575730|5.575730	0.96553|0.96553	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000467200|ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497;ENST00000435836	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.28255	.|1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62	5.84|5.84	5.84|5.84	0.93424|0.93424	.|Bromodomain (5);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.64114|0.64114	0.2569|0.2569	M|M	0.87328|0.87328	2.875|2.875	0.54753|0.54753	D|D	0.999982|0.999982	.|P;P;P;P;P;B;D;P;B;D;D;D;D;P;D;P;P	.|0.76494	.|0.763;0.827;0.94;0.948;0.922;0.324;0.959;0.72;0.324;0.959;0.967;0.973;0.973;0.93;0.999;0.867;0.738	.|B;B;P;P;P;B;B;B;B;P;P;P;P;P;D;B;P	.|0.78314	.|0.274;0.41;0.539;0.591;0.452;0.179;0.404;0.087;0.06;0.555;0.539;0.729;0.729;0.692;0.991;0.413;0.545	T|T	0.68413|0.68413	-0.5415|-0.5415	5|10	.|0.72032	.|D	.|0.01	-17.5631|-17.5631	20.142|20.142	0.98061|0.98061	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|172;204;172;172;171;197;177;172;197;197;177;114;172;172;197;172;177	.|B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.|.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	H|I	103|172;177;172;177;197;197;177;204;177;114;197;172;172;152	.|ENSP00000354166:V172I;ENSP00000312237:V177I;ENSP00000392964:V172I;ENSP00000262975:V177I;ENSP00000420095:V197I;ENSP00000335537:V197I;ENSP00000379577:V177I;ENSP00000439800:V204I;ENSP00000348246:V177I;ENSP00000396725:V114I;ENSP00000418210:V197I;ENSP00000361093:V172I;ENSP00000443086:V172I;ENSP00000413727:V152I	.|ENSP00000262975:V177I	R|V	-|-	2|1	0|0	ZMYND8|ZMYND8	45354018|45354018	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.989000|0.989000	0.77384|0.77384	7.814000|7.814000	0.86154|0.86154	2.754000|2.754000	0.94517|0.94517	0.655000|0.655000	0.94253|0.94253	CGT|GTT		0.433	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		14	396	0	0	0	1	0	14	396				
ALS2CR12	130540	broad.mit.edu	37	2	202216069	202216069	+	Missense_Mutation	SNP	C	C	T	rs142397497		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:202216069C>T	ENST00000286190.5	-	1	105	c.59G>A	c.(58-60)cGg>cAg	p.R20Q	ALS2CR12_ENST00000439709.1_Missense_Mutation_p.R20Q|ALS2CR12_ENST00000405148.2_Missense_Mutation_p.R20Q|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.R20Q|ALS2CR12_ENST00000448967.1_5'UTR			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	20					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)		p.R20Q(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						GATTAGCTTCCGTGGTCCCAA	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		17196	0.0		0.0	False		,,,				2504	0.001					ENST00000405148.2																			1	Substitution - Missense(1)	p.R20Q(1)	endometrium(1)	NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(58-60)cGg>cAg		amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	104.0	97.0	100.0		59,59	2.3	0.9	2	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ALS2CR12	NM_001127391.1,NM_139163.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	20/423,20/446	202216069	1,13005	2203	4300	6503	SO:0001583	missense	130540				regulation of GTPase activity		protein binding	g.chr2:202216069C>T	AB053314	CCDS2346.1, CCDS46488.1	2q33.1	2009-10-06			ENSG00000155749	ENSG00000155749			14439	protein-coding gene	gene with protein product							Standard	XM_006712272		Approved		uc002uya.4	Q96Q35	OTTHUMG00000132824	ENST00000286190.5:c.59G>A	2.37:g.202216069C>T	ENSP00000286190:p.Arg20Gln					ALS2CR12_ENST00000448967.1_5'UTR|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.R20Q|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.R20Q|ALS2CR12_ENST00000286190.5_Missense_Mutation_p.R20Q	p.R20Q	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN			2	502	-			20					G5E9S3|Q53TT6|Q8N1B6	Missense_Mutation	SNP	ENST00000286190.5	37	c.59G>A	CCDS2346.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597707	0.46318	0.0	1.16E-4	ENSG00000155749	ENST00000286190;ENST00000405148;ENST00000392257;ENST00000439709;ENST00000418364	T;T;T;T;T	0.58210	0.91;0.91;0.91;0.91;0.35	5.06	2.28	0.28536	.	0.317119	0.23103	N	0.051893	T	0.33818	0.0876	L	0.33485	1.01	0.21020	N	0.999809	B;B	0.30033	0.266;0.266	B;B	0.22386	0.039;0.039	T	0.17379	-1.0371	10	0.46703	T	0.11	-5.5698	5.0633	0.14568	0.0:0.6437:0.1719:0.1844	.	20;20	Q96Q35;G5E9S3	AL2SB_HUMAN;.	Q	20	ENSP00000286190:R20Q;ENSP00000385098:R20Q;ENSP00000376086:R20Q;ENSP00000412073:R20Q;ENSP00000407585:R20Q	ENSP00000286190:R20Q	R	-	2	0	ALS2CR12	201924314	0.021000	0.18746	0.897000	0.35233	0.905000	0.53344	0.413000	0.21148	0.808000	0.34231	-0.137000	0.14449	CGG		0.557	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256286.1	NM_139163		35	217	0	0	0	1	0	35	217				
PCDHB16	57717	broad.mit.edu	37	5	140563751	140563751	+	Silent	SNP	G	G	A	rs17844655	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:140563751G>A	ENST00000361016.2	+	1	2772	c.1617G>A	c.(1615-1617)ccG>ccA	p.P539P		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	539	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGCTCCCCGGCTTTGAGCA	0.682																																						ENST00000361016.2																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(1615-1617)ccG>ccA									22.0	25.0	24.0					5																	140563751		1817	3313	5130	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563751G>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1617G>A	5.37:g.140563751G>A							p.P539P	NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2772	+			539			Cadherin 5.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.1617G>A	CCDS4251.1																																																																																				0.682	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		49	171	0	0	0	1	0	49	171				
VAV1	7409	broad.mit.edu	37	19	6828153	6828153	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:6828153C>T	ENST00000602142.1	+	10	1076	c.994C>T	c.(994-996)Cga>Tga	p.R332*	VAV1_ENST00000304076.2_Nonsense_Mutation_p.R332*|VAV1_ENST00000599806.1_Nonsense_Mutation_p.R277*|VAV1_ENST00000539284.1_Nonsense_Mutation_p.R235*|VAV1_ENST00000596764.1_Nonsense_Mutation_p.R300*	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	332	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GCCTATGCAGCGAGTTCTCAA	0.557																																						ENST00000304076.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(994-996)Cga>Tga		vav 1 guanine nucleotide exchange factor							86.0	76.0	79.0					19																	6828153		2203	4300	6503	SO:0001587	stop_gained	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6828153C>T		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.994C>T	19.37:g.6828153C>T	ENSP00000472929:p.Arg332*					VAV1_ENST00000602142.1_Nonsense_Mutation_p.R332*|VAV1_ENST00000599806.1_Nonsense_Mutation_p.R277*|VAV1_ENST00000596764.1_Nonsense_Mutation_p.R300*|VAV1_ENST00000539284.1_Nonsense_Mutation_p.R235*	p.R332*	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			10	1088	+			332			DH.		B4DVK9|M0QXX6|Q15860	Nonsense_Mutation	SNP	ENST00000602142.1	37	c.994C>T	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532118	0.85812	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	.	.	.	4.5	3.43	0.39272	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.3561	0.49617	0.1829:0.8171:0.0:0.0	.	.	.	.	X	332;235	.	ENSP00000302269:R332X	R	+	1	2	VAV1	6779153	1.000000	0.71417	0.995000	0.50966	0.392000	0.30506	0.906000	0.28517	0.860000	0.35481	0.462000	0.41574	CGA		0.557	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			48	150	0	0	0	1	0	48	150				
GPR12	2835	broad.mit.edu	37	13	27333439	27333439	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr13:27333439C>T	ENST00000381436.2	-	1	988	c.526G>A	c.(526-528)Gtc>Atc	p.V176I	GPR12_ENST00000405846.3_Missense_Mutation_p.V176I			P47775	GPR12_HUMAN	G protein-coupled receptor 12	176					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		CAGCCCATGACGGGCAGCAGC	0.597																																						ENST00000405846.3																			0				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(526-528)Gtc>Atc		G protein-coupled receptor 12							51.0	47.0	48.0					13																	27333439		2203	4300	6503	SO:0001583	missense	0					integral to plasma membrane		g.chr13:27333439C>T	U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"""GPCR / Class A : Orphans"""	4466	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 84"""	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.526G>A	13.37:g.27333439C>T	ENSP00000370844:p.Val176Ile					GPR12_ENST00000381436.2_Missense_Mutation_p.V176I	p.V176I	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)	2	747	-	Colorectal(5;5.77e-05)	Breast(139;0.198)	176					Q5T8P3	Missense_Mutation	SNP	ENST00000381436.2	37	c.526G>A	CCDS9319.1	.	.	.	.	.	.	.	.	.	.	C	3.117	-0.181320	0.06380	.	.	ENSG00000132975	ENST00000405846;ENST00000381436	T;T	0.36520	1.25;1.25	5.36	0.721	0.18219	GPCR, rhodopsin-like superfamily (1);	0.236354	0.42964	N	0.000627	T	0.16342	0.0393	N	0.11892	0.195	0.21841	N	0.999511	B	0.19073	0.033	B	0.19946	0.027	T	0.32134	-0.9918	10	0.07813	T	0.8	.	9.6996	0.40178	0.0:0.4994:0.0:0.5006	.	176	P47775	GPR12_HUMAN	I	176	ENSP00000384932:V176I;ENSP00000370844:V176I	ENSP00000370844:V176I	V	-	1	0	GPR12	26231439	0.001000	0.12720	0.292000	0.24919	0.946000	0.59487	0.002000	0.13061	-0.184000	0.10567	-0.224000	0.12420	GTC		0.597	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2			50	82	0	0	0	1	0	50	82				
ZNF454	285676	broad.mit.edu	37	5	178391963	178391963	+	Silent	SNP	C	C	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:178391963C>A	ENST00000320129.3	+	5	861	c.558C>A	c.(556-558)gtC>gtA	p.V186V	ZNF454_ENST00000519564.1_Silent_p.V186V	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	186					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.V186V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GTGGAAAAGTCTTCTCTAAGA	0.343																																						ENST00000320129.3																			1	Substitution - coding silent(1)	p.V186V(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46						c.(556-558)gtC>gtA		zinc finger protein 454							52.0	54.0	53.0					5																	178391963		2203	4300	6503	SO:0001819	synonymous_variant	285676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178391963C>A	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.558C>A	5.37:g.178391963C>A						ZNF454_ENST00000519564.1_Silent_p.V186V	p.V186V	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)	5	861	+	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	186					Q2M1P2|Q2M323	Silent	SNP	ENST00000320129.3	37	c.558C>A	CCDS4441.1																																																																																				0.343	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718		24	261	1	0	6.44725e-10	1	6.87093e-10	24	261				
SPTBN1	6711	broad.mit.edu	37	2	54753681	54753681	+	Silent	SNP	G	G	C			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:54753681G>C	ENST00000356805.4	+	2	407	c.126G>C	c.(124-126)cgG>cgC	p.R42R	AC092839.3_ENST00000433475.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	42	Actin-binding.				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)			TTTTTGAGCGGTCCCGCATCA	0.537																																						ENST00000356805.4																			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.(124-126)cgG>cgC		spectrin, beta, non-erythrocytic 1							104.0	95.0	98.0					2																	54753681		2203	4300	6503	SO:0001819	synonymous_variant	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54753681G>C		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.126G>C	2.37:g.54753681G>C						AC092839.3_ENST00000433475.1_RNA	p.R42R	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		2	407	+			42			Actin-binding.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	c.126G>C	CCDS33198.1																																																																																				0.537	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			55	214	0	0	0	1	0	55	214				
CYLC1	1538	broad.mit.edu	37	X	83128600	83128600	+	Missense_Mutation	SNP	G	G	T	rs377756954		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chrX:83128600G>T	ENST00000329312.4	+	4	921	c.884G>T	c.(883-885)aGc>aTc	p.S295I		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	295					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GCAAAGAAAAGCTCTGATGCT	0.308																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(883-885)aGc>aTc		cylicin, basic protein of sperm head cytoskeleton 1							33.0	32.0	32.0					X																	83128600		2188	4283	6471	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83128600G>T	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.884G>T	X.37:g.83128600G>T	ENSP00000331556:p.Ser295Ile						p.S295I	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			4	921	+			295					A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.884G>T	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	g	4.628	0.116752	0.08881	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.29397	1.57	4.7	-0.522	0.11928	.	.	.	.	.	T	0.24353	0.0590	L	0.58810	1.83	0.09310	N	1	P;P	0.42518	0.782;0.615	B;B	0.40444	0.329;0.329	T	0.21008	-1.0258	9	0.56958	D	0.05	7.466	0.5755	0.00702	0.3742:0.1839:0.2691:0.1728	.	295;295	P35663;F5H4V5	CYLC1_HUMAN;.	I	295	ENSP00000331556:S295I	ENSP00000331556:S295I	S	+	2	0	CYLC1	83015256	0.000000	0.05858	0.001000	0.08648	0.068000	0.16541	-0.519000	0.06260	-0.125000	0.11703	0.600000	0.82982	AGC		0.308	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		95	38	1	0	1.49228e-48	1	1.62755e-48	95	38				
PGLYRP2	114770	broad.mit.edu	37	19	15587252	15587252	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:15587252T>A	ENST00000340880.4	-	2	709	c.229A>T	c.(229-231)Aat>Tat	p.N77Y	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.N77Y	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	77					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						TCTGTAGCATTGAGGCTCCAT	0.577																																						ENST00000292609.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						c.(229-231)Aat>Tat		peptidoglycan recognition protein 2							107.0	77.0	87.0					19																	15587252		2203	4300	6503	SO:0001583	missense	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15587252T>A	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.229A>T	19.37:g.15587252T>A	ENSP00000345968:p.Asn77Tyr					PGLYRP2_ENST00000340880.4_Missense_Mutation_p.N77Y	p.N77Y			Q96PD5	PGRP2_HUMAN			2	358	-			77					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	c.229A>T	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	T	11.89	1.774901	0.31411	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.05081	3.53;3.5	5.27	-9.65	0.00537	.	3.618340	0.00864	N	0.001941	T	0.06280	0.0162	L	0.44542	1.39	0.09310	N	1	P;P	0.51351	0.944;0.681	P;B	0.44811	0.461;0.119	T	0.43048	-0.9415	10	0.72032	D	0.01	-8.1911	4.2592	0.10733	0.0953:0.1593:0.4642:0.2813	.	77;77	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	Y	77	ENSP00000345968:N77Y;ENSP00000292609:N77Y	ENSP00000292609:N77Y	N	-	1	0	PGLYRP2	15448252	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.414000	0.07114	-1.652000	0.01502	-2.304000	0.00258	AAT		0.577	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		6	154	0	0	0	1	0	6	154				
ZNFX1	57169	broad.mit.edu	37	20	47879967	47879967	+	Silent	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr20:47879967G>A	ENST00000396105.1	-	6	2451	c.2205C>T	c.(2203-2205)acC>acT	p.T735T	ZNFX1_ENST00000371752.1_Silent_p.T735T|ZNFX1_ENST00000371754.4_Silent_p.T735T	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	735							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGCACTCCAGGGTCTTGGCTC	0.498																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(2203-2205)acC>acT		zinc finger, NFX1-type containing 1							121.0	84.0	96.0					20																	47879967		2203	4299	6502	SO:0001819	synonymous_variant	57169						metal ion binding	g.chr20:47879967G>A	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.2205C>T	20.37:g.47879967G>A						ZNFX1_ENST00000371754.4_Silent_p.T735T|ZNFX1_ENST00000371752.1_Silent_p.T735T	p.T735T	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		6	2451	-			735					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	ENST00000396105.1	37	c.2205C>T	CCDS13417.1																																																																																				0.498	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		16	112	0	0	0	1	0	16	112				
HTRA1	5654	broad.mit.edu	37	10	124273729	124273729	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr10:124273729G>A	ENST00000368984.3	+	9	1425	c.1297G>A	c.(1297-1299)Gtc>Atc	p.V433I		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	433	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				GGAAAACGACGTCATAATCAG	0.493																																						ENST00000368984.3																			0				endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17						c.(1297-1299)Gtc>Atc		HtrA serine peptidase 1							334.0	302.0	313.0					10																	124273729		2203	4300	6503	SO:0001583	missense	5654				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr10:124273729G>A	AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033		"""Serine peptidases / Serine peptidases"""	9476	protein-coding gene	gene with protein product		602194	"""protease, serine, 11 (IGF binding)"""	PRSS11		8977104	Standard	NM_002775		Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.1297G>A	10.37:g.124273729G>A	ENSP00000357980:p.Val433Ile						p.V433I	NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN			9	1425	+		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)	433			PDZ.		D3DRE4|Q9UNS5	Missense_Mutation	SNP	ENST00000368984.3	37	c.1297G>A	CCDS7630.1	.	.	.	.	.	.	.	.	.	.	G	9.716	1.158414	0.21454	.	.	ENSG00000166033	ENST00000368984;ENST00000435263;ENST00000420892	T;T	0.27104	1.69;1.69	5.38	4.48	0.54585	PDZ/DHR/GLGF (4);	0.063434	0.64402	D	0.000006	T	0.19565	0.0470	L	0.38531	1.155	0.52099	D	0.999941	B	0.21905	0.062	B	0.28638	0.092	T	0.06006	-1.0851	10	0.18710	T	0.47	-13.2088	8.8295	0.35076	0.225:0.0:0.775:0.0	.	433	Q92743	HTRA1_HUMAN	I	433;400;174	ENSP00000357980:V433I;ENSP00000412676:V174I	ENSP00000357980:V433I	V	+	1	0	HTRA1	124263719	1.000000	0.71417	0.912000	0.35992	0.783000	0.44284	5.345000	0.65987	1.265000	0.44215	0.655000	0.94253	GTC		0.493	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128327.1	NM_002775		23	1062	0	0	0	1	0	23	1062				
GREB1	9687	broad.mit.edu	37	2	11758761	11758761	+	Missense_Mutation	SNP	C	C	T	rs368329579		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:11758761C>T	ENST00000381486.2	+	22	4060	c.3760C>T	c.(3760-3762)Cgc>Tgc	p.R1254C	GREB1_ENST00000234142.5_Missense_Mutation_p.R1254C|GREB1_ENST00000396123.1_Missense_Mutation_p.R252C	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1254						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CAAGGCCTGCCGCCAGCCACC	0.672																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(3760-3762)Cgc>Tgc		growth regulation by estrogen in breast cancer 1		C	CYS/ARG	0,4306		0,0,2153	28.0	32.0	31.0		3760	2.6	0.7	2		31	1,8489		0,1,4244	no	missense	GREB1	NM_014668.3	180	0,1,6397	TT,TC,CC		0.0118,0.0,0.0078	probably-damaging	1254/1950	11758761	1,12795	2153	4245	6398	SO:0001583	missense	9687					integral to membrane		g.chr2:11758761C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.3760C>T	2.37:g.11758761C>T	ENSP00000370896:p.Arg1254Cys					GREB1_ENST00000234142.5_Missense_Mutation_p.R1254C|GREB1_ENST00000396123.1_Missense_Mutation_p.R252C	p.R1254C	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	22	4060	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1254					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.3760C>T	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.557381	0.27827	0.0	1.18E-4	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.24350	3.18;3.18;1.86	4.65	2.57	0.30868	.	0.511140	0.21884	N	0.067688	T	0.20251	0.0487	L	0.34521	1.04	0.09310	N	0.999998	P	0.51653	0.947	P	0.44990	0.466	T	0.07233	-1.0783	10	0.56958	D	0.05	-60.0247	7.3683	0.26787	0.3947:0.5083:0.0:0.097	.	1254	Q4ZG55	GREB1_HUMAN	C	1254;1254;252	ENSP00000370896:R1254C;ENSP00000234142:R1254C;ENSP00000379429:R252C	ENSP00000234142:R1254C	R	+	1	0	GREB1	11676212	0.861000	0.29849	0.658000	0.29665	0.046000	0.14306	1.621000	0.36986	0.379000	0.24794	-0.277000	0.10078	CGC		0.672	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		35	71	0	0	0	1	0	35	71				
ACTL7B	10880	broad.mit.edu	37	9	111617940	111617940	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:111617940C>T	ENST00000374667.3	-	1	1299	c.271G>A	c.(271-273)Gac>Aac	p.D91N		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	91						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TTGCGGGTGTCGCCAGCGTCG	0.652																																						ENST00000374667.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(271-273)Gac>Aac		actin-like 7B							65.0	65.0	65.0					9																	111617940		2203	4300	6503	SO:0001583	missense	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111617940C>T	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.271G>A	9.37:g.111617940C>T	ENSP00000363799:p.Asp91Asn						p.D91N	NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN			1	1299	-			91					B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	c.271G>A	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	C	1.290	-0.607799	0.03717	.	.	ENSG00000148156	ENST00000374667	D	0.97016	-4.21	4.27	4.27	0.50696	.	0.000000	0.35124	U	0.003430	D	0.95968	0.8687	L	0.45422	1.42	0.30232	N	0.795812	D	0.76494	0.999	D	0.64144	0.922	D	0.92698	0.6172	10	0.87932	D	0	.	7.9351	0.29925	0.0:0.8902:0.0:0.1098	.	91	Q9Y614	ACL7B_HUMAN	N	91	ENSP00000363799:D91N	ENSP00000363799:D91N	D	-	1	0	ACTL7B	110657761	0.034000	0.19679	0.861000	0.33841	0.043000	0.13939	1.283000	0.33237	2.203000	0.70933	0.655000	0.94253	GAC		0.652	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		167	186	0	0	0	1	0	167	186				
CDHR1	92211	broad.mit.edu	37	10	85973848	85973848	+	Missense_Mutation	SNP	G	G	A	rs144225118		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr10:85973848G>A	ENST00000372117.3	+	17	2154	c.2051G>A	c.(2050-2052)cGg>cAg	p.R684Q	CDHR1_ENST00000440770.2_Missense_Mutation_p.R388Q|CDHR1_ENST00000332904.3_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	684	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ACCCTCTCCCGGAGCCCCATG	0.587																																						ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(2050-2052)cGg>cAg		cadherin-related family member 1							81.0	86.0	84.0					10																	85973848		2203	4300	6503	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85973848G>A	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.2051G>A	10.37:g.85973848G>A	ENSP00000361189:p.Arg684Gln					CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_Missense_Mutation_p.R388Q	p.R684Q	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			17	2154	+			684			Cadherin 6.		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.2051G>A	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	9.940	1.217147	0.22373	.	.	ENSG00000148600	ENST00000372117;ENST00000440770	T;T	0.55588	0.63;0.51	5.42	3.49	0.39957	Cadherin (2);	0.361967	0.29066	N	0.013243	T	0.33990	0.0882	L	0.50333	1.59	0.09310	N	1	P;P	0.50066	0.487;0.931	B;B	0.36534	0.015;0.227	T	0.18116	-1.0347	10	0.13470	T	0.59	-15.919	3.8891	0.09111	0.2296:0.2022:0.5682:0.0	.	388;684	E7EN47;Q96JP9	.;CDHR1_HUMAN	Q	684;388	ENSP00000361189:R684Q;ENSP00000415980:R388Q	ENSP00000361189:R684Q	R	+	2	0	CDHR1	85963828	1.000000	0.71417	0.018000	0.16275	0.011000	0.07611	1.750000	0.38329	1.207000	0.43291	0.655000	0.94253	CGG		0.587	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		8	528	0	0	0	1	0	8	528				
SRGAP3	9901	broad.mit.edu	37	3	9036163	9036163	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr3:9036163G>A	ENST00000383836.3	-	19	2699	c.2272C>T	c.(2272-2274)Cgg>Tgg	p.R758W	SRGAP3_ENST00000360413.3_Missense_Mutation_p.R734W	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	758	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CGCGGGGACCGCCCCATGTAG	0.602			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2272-2274)Cgg>Tgg		SLIT-ROBO Rho GTPase activating protein 3							67.0	65.0	66.0					3																	9036163		2203	4300	6503	SO:0001583	missense	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9036163G>A	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2272C>T	3.37:g.9036163G>A	ENSP00000373347:p.Arg758Trp					SRGAP3_ENST00000360413.3_Missense_Mutation_p.R734W	p.R758W	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	19	2699	-			758			SH3.		Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	c.2272C>T	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346604	0.82022	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.52754	0.65;0.65	4.95	3.0	0.34707	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.70745	0.3259	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.988;0.99	T	0.77859	-0.2431	10	0.87932	D	0	.	13.8591	0.63548	0.0:0.0:0.725:0.275	.	734;758	O43295-2;O43295	.;SRGP2_HUMAN	W	758;734	ENSP00000373347:R758W;ENSP00000353587:R734W	ENSP00000353587:R734W	R	-	1	2	SRGAP3	9011163	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.932000	0.56537	1.176000	0.42840	-0.188000	0.12872	CGG		0.602	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			70	207	0	0	0	1	0	70	207				
TXNDC2	84203	broad.mit.edu	37	18	9886894	9886894	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr18:9886894A>G	ENST00000306084.6	+	2	617	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	TXNDC2_ENST00000357775.5_Missense_Mutation_p.K73E|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	140	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)	p.K140E(2)|p.K73E(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAAAAGCCATCCA	0.547																																						ENST00000306084.6																			4	Substitution - Missense(4)	p.K140E(2)|p.K73E(2)	urinary_tract(2)|lung(2)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(418-420)Aaa>Gaa		thioredoxin domain containing 2 (spermatozoa)							133.0	131.0	132.0					18																	9886894		2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9886894A>G	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.418A>G	18.37:g.9886894A>G	ENSP00000304908:p.Lys140Glu					TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E|TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E	p.K140E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	617	+			140			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.418A>G	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	a	8.625	0.892206	0.17613	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T;T	0.20069	2.1;2.3;2.3	3.48	-6.96	0.01622	.	1.199930	0.06365	N	0.712409	T	0.12774	0.0310	L	0.35854	1.095	0.09310	N	1	B	0.25048	0.117	B	0.25884	0.064	T	0.32693	-0.9897	9	.	.	.	.	5.8007	0.18412	0.5013:0.2415:0.2572:0.0	.	140	Q86VQ3	TXND2_HUMAN	E	73;73;140;140	ENSP00000437393:K73E;ENSP00000350419:K73E;ENSP00000304908:K140E	.	K	+	1	0	TXNDC2	9876894	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.892000	0.04131	-1.042000	0.03262	-1.380000	0.01176	AAA		0.547	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			7	585	0	0	0	1	0	7	585				
SLC1A5	6510	broad.mit.edu	37	19	47290737	47290737	+	Silent	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:47290737G>A	ENST00000542575.2	-	1	1114	c.486C>T	c.(484-486)atC>atT	p.I162I	SLC1A5_ENST00000594991.1_5'Flank|SLC1A5_ENST00000434726.2_5'Flank|SLC1A5_ENST00000412532.2_5'Flank	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	162					amino acid transport (GO:0006865)|extracellular amino acid transport (GO:0006860)|glutamine transport (GO:0006868)|ion transport (GO:0006811)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-glutamine transmembrane transporter activity (GO:0015186)|L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)|receptor activity (GO:0004872)|sodium:dicarboxylate symporter activity (GO:0017153)|virus receptor activity (GO:0001618)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	CGGAGGCGTTGATGGCGGCGG	0.701																																						ENST00000542575.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13						c.(484-486)atC>atT		solute carrier family 1 (neutral amino acid transporter), member 5	L-Asparagine(DB00174)|L-Glutamine(DB00130)						6.0	7.0	7.0					19																	47290737		2157	4240	6397	SO:0001819	synonymous_variant	6510				cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity	g.chr19:47290737G>A	U53347	CCDS12692.1, CCDS46125.1, CCDS46126.1	19q13.32	2013-07-15			ENSG00000105281	ENSG00000105281		"""Solute carriers"""	10943	protein-coding gene	gene with protein product		109190		RDRC, M7V1		8702519, 10051606	Standard	NM_005628		Approved	AAAT, ASCT2	uc002pfs.3	Q15758	OTTHUMG00000183434	ENST00000542575.2:c.486C>T	19.37:g.47290737G>A							p.I162I	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	1	1114	-		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)	162					A8K9H5|B4DR77|B4DWS4|B7ZB81|D0EYG6|E9PC01|O95720|Q96RL9|Q9BWQ3|Q9UNP2	Silent	SNP	ENST00000542575.2	37	c.486C>T	CCDS12692.1																																																																																				0.701	SLC1A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466630.1			8	24	0	0	0	1	0	8	24				
SSTR3	6753	broad.mit.edu	37	22	37603719	37603719	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr22:37603719C>T	ENST00000328544.3	-	2	657	c.124G>A	c.(124-126)Gtc>Atc	p.V42I	SSTR3_ENST00000402501.1_Missense_Mutation_p.V42I	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	42					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	ACGCCACTGACGGCCAGCCCT	0.672																																						ENST00000328544.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						c.(124-126)Gtc>Atc		somatostatin receptor 3							51.0	52.0	52.0					22																	37603719		2203	4300	6503	SO:0001583	missense	0				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37603719C>T		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.124G>A	22.37:g.37603719C>T	ENSP00000330138:p.Val42Ile					SSTR3_ENST00000402501.1_Missense_Mutation_p.V42I	p.V42I	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN			2	657	-			42					A8K550|Q53ZR7	Missense_Mutation	SNP	ENST00000328544.3	37	c.124G>A	CCDS13944.1	.	.	.	.	.	.	.	.	.	.	C	7.092	0.572305	0.13623	.	.	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.37235	1.21;1.21	5.61	1.27	0.21489	.	0.437679	0.21686	N	0.070641	T	0.20210	0.0486	L	0.29908	0.895	0.32755	N	0.505859	B	0.19445	0.036	B	0.10450	0.005	T	0.35400	-0.9790	10	0.07325	T	0.83	.	8.8667	0.35291	0.0:0.7176:0.0:0.2824	.	42	P32745	SSR3_HUMAN	I	42	ENSP00000330138:V42I;ENSP00000384904:V42I	ENSP00000330138:V42I	V	-	1	0	SSTR3	35933665	0.000000	0.05858	0.189000	0.23252	0.023000	0.10783	-0.311000	0.08124	0.073000	0.16731	0.557000	0.71058	GTC		0.672	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			23	255	0	0	0	1	0	23	255				
TGM5	9333	broad.mit.edu	37	15	43527833	43527833	+	Silent	SNP	C	C	T	rs188841718	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr15:43527833C>T	ENST00000220420.5	-	10	1555	c.1548G>A	c.(1546-1548)ccG>ccA	p.P516P	TGM5_ENST00000349114.4_Silent_p.P434P	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	516					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CCATGTTGGGCGGGTCGAGCA	0.567													C|||	3	0.000599042	0.0023	0.0	5008	,	,		21669	0.0		0.0	False		,,,				2504	0.0					ENST00000220420.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(1546-1548)ccG>ccA		transglutaminase 5	L-Glutamine(DB00130)	C	,	1,4405	2.1+/-5.4	0,1,2202	106.0	88.0	94.0		1302,1548	-11.2	0.0	15		94	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	TGM5	NM_004245.3,NM_201631.3	,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,	434/639,516/721	43527833	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43527833C>T	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1548G>A	15.37:g.43527833C>T						TGM5_ENST00000349114.4_Silent_p.P434P	p.P516P	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	10	1555	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	516					O43549|Q0VF40|Q9UEZ4	Silent	SNP	ENST00000220420.5	37	c.1548G>A	CCDS32212.1																																																																																				0.567	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		22	104	0	0	0	1	0	22	104				
COL25A1	84570	broad.mit.edu	37	4	110221776	110221776	+	Silent	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr4:110221776G>A	ENST00000399132.1	-	3	860	c.330C>T	c.(328-330)atC>atT	p.I110I	COL25A1_ENST00000399126.1_Silent_p.I110I|COL25A1_ENST00000399127.1_Silent_p.I110I|AC004051.2_ENST00000500526.1_lincRNA	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTTCTCTTGCGATTCTTATTT	0.388																																						ENST00000399132.1																			0				NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49						c.(328-330)atC>atT		collagen, type XXV, alpha 1							191.0	170.0	176.0					4																	110221776		1848	4104	5952	SO:0001819	synonymous_variant	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:110221776G>A	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.330C>T	4.37:g.110221776G>A						COL25A1_ENST00000399126.1_Silent_p.I110I|COL25A1_ENST00000399127.1_Silent_p.I110I	p.I110I	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	3	860	-		Hepatocellular(203;0.217)	110						Silent	SNP	ENST00000399132.1	37	c.330C>T	CCDS43258.1																																																																																				0.388	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		12	249	0	0	0	1	0	12	249				
PTPRU	10076	broad.mit.edu	37	1	29609320	29609320	+	Silent	SNP	C	C	T	rs535081694		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:29609320C>T	ENST00000345512.3	+	12	2130	c.2001C>T	c.(1999-2001)gcC>gcT	p.A667A	PTPRU_ENST00000428026.2_Silent_p.A667A|PTPRU_ENST00000356870.3_Silent_p.A667A|PTPRU_ENST00000460170.2_Silent_p.A667A|PTPRU_ENST00000373779.3_Silent_p.A667A|PTPRU_ENST00000323874.8_Silent_p.A667A|PTPRU_ENST00000415600.2_3'UTR	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	667	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		ACTTCGGGGCCGAACTGGCGG	0.657																																						ENST00000323874.8																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(1999-2001)gcC>gcT		protein tyrosine phosphatase, receptor type, U							65.0	64.0	64.0					1																	29609320		2203	4300	6503	SO:0001819	synonymous_variant	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29609320C>T	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.2001C>T	1.37:g.29609320C>T						PTPRU_ENST00000345512.3_Silent_p.A667A|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000373779.3_Silent_p.A667A|PTPRU_ENST00000356870.3_Silent_p.A667A|PTPRU_ENST00000460170.2_Silent_p.A667A|PTPRU_ENST00000428026.2_Silent_p.A667A	p.A667A			Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	12	2111	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	667			Fibronectin type-III 4.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Silent	SNP	ENST00000345512.3	37	c.2001C>T	CCDS334.1																																																																																				0.657	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			5	302	0	0	0	1	0	5	302				
CEACAM8	1088	broad.mit.edu	37	19	43098947	43098947	+	Missense_Mutation	SNP	G	G	A	rs200797632		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:43098947G>A	ENST00000244336.5	-	1	135	c.34C>T	c.(34-36)Cgc>Tgc	p.R12C	LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Missense_Mutation_p.R12C|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	12					immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CAGGGGATGCGCCATCTGCAG	0.612													.|||	1	0.000199681	0.0008	0.0	5008	,	,		18403	0.0		0.0	False		,,,				2504	0.0					ENST00000244336.5																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16						c.(34-36)Cgc>Tgc		carcinoembryonic antigen-related cell adhesion molecule 8							107.0	98.0	101.0					19																	43098947		2203	4300	6503	SO:0001583	missense	1088				immune response	anchored to membrane|extracellular space|integral to plasma membrane		g.chr19:43098947G>A	D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.34C>T	19.37:g.43098947G>A	ENSP00000244336:p.Arg12Cys					LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Missense_Mutation_p.R12C	p.R12C	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN			1	135	-		Prostate(69;0.00899)	12					O60399|Q16574	Missense_Mutation	SNP	ENST00000244336.5	37	c.34C>T	CCDS12610.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	3.655	-0.070637	0.07228	.	.	ENSG00000124469	ENST00000244336	T	0.18657	2.2	1.48	-2.96	0.05547	.	.	.	.	.	T	0.06050	0.0157	N	0.01109	-1.01	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34354	-0.9832	9	0.46703	T	0.11	.	6.6657	0.23039	0.3515:0.0:0.6485:0.0	.	12	P31997	CEAM8_HUMAN	C	12	ENSP00000244336:R12C	ENSP00000244336:R12C	R	-	1	0	CEACAM8	47790787	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.542000	0.00436	-1.003000	0.03425	-1.786000	0.00637	CGC		0.612	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1			215	257	0	0	0	1	0	215	257				
PRSS3P2	154754	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										GGTCTGCAATGGACAGCTTCA	0.493																																						ENST00000603901.1																			0																																																			0							g.chr7:142482242G>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482242G>A								NR_001296.3						0	622	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		6	203	0	0	0	1	0	6	203				
OBSCN	84033	broad.mit.edu	37	1	228402610	228402610	+	Missense_Mutation	SNP	G	G	A	rs368567235		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:228402610G>A	ENST00000422127.1	+	5	1683	c.1639G>A	c.(1639-1641)Ggc>Agc	p.G547S	OBSCN_ENST00000366709.4_5'UTR|C1orf145_ENST00000295012.5_5'Flank|OBSCN_ENST00000570156.2_Missense_Mutation_p.G547S|OBSCN_ENST00000284548.11_Missense_Mutation_p.G547S|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	547	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACTATCGACGGCTACCTGGT	0.592																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(1639-1641)Ggc>Agc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		G	SER/GLY,SER/GLY	0,4090		0,0,2045	56.0	65.0	62.0		1639,1639	4.5	1.0	1		62	1,8371		0,1,4185	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	56,56	0,1,6230	AA,AG,GG		0.0119,0.0,0.0080	possibly-damaging,possibly-damaging	547/7969,547/6621	228402610	1,12461	2045	4186	6231	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228402610G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.1639G>A	1.37:g.228402610G>A	ENSP00000409493:p.Gly547Ser					OBSCN_ENST00000422127.1_Missense_Mutation_p.G547S|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.G547S	p.G547S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			5	1713	+		Prostate(94;0.0405)	547			Fibronectin type-III 1.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.1639G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184498	0.57800	0.0	1.19E-4	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.35973	1.28;1.28	5.51	4.54	0.55810	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.58538	0.2129	M	0.82433	2.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.58907	-0.7553	10	0.07325	T	0.83	.	15.7869	0.78310	0.0:0.1363:0.8637:0.0	.	547;547	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	S	547	ENSP00000284548:G547S;ENSP00000409493:G547S	ENSP00000284548:G547S	G	+	1	0	OBSCN	226469233	1.000000	0.71417	0.958000	0.39756	0.106000	0.19336	5.558000	0.67319	2.595000	0.87683	0.655000	0.94253	GGC		0.592	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	130	0	0	0	1	0	4	130				
PABPC5	140886	broad.mit.edu	37	X	90691366	90691366	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chrX:90691366A>T	ENST00000312600.3	+	2	1004	c.790A>T	c.(790-792)Atc>Ttc	p.I264F	PABPC5_ENST00000373105.1_Missense_Mutation_p.I100F|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	264	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						TGGAAAGTCCATCGATGGAAA	0.458																																						ENST00000312600.3																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						c.(790-792)Atc>Ttc		poly(A) binding protein, cytoplasmic 5							65.0	65.0	65.0					X																	90691366		2203	4300	6503	SO:0001583	missense	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90691366A>T	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.790A>T	X.37:g.90691366A>T	ENSP00000308012:p.Ile264Phe					PABPC5_ENST00000373105.1_Missense_Mutation_p.I100F	p.I264F	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN			2	1004	+			264			RRM 3.		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	c.790A>T	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.663909	0.00772	.	.	ENSG00000174740	ENST00000373105;ENST00000312600;ENST00000402906	T;T	0.16597	2.33;2.33	4.29	0.672	0.17935	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.119665	0.56097	D	0.000022	T	0.07503	0.0189	N	0.11789	0.175	0.40850	D	0.983745	B	0.33637	0.42	B	0.37198	0.243	T	0.31558	-0.9939	10	0.07030	T	0.85	.	7.1546	0.25630	0.7157:0.0:0.2843:0.0	.	264	Q96DU9	PABP5_HUMAN	F	100;264;232	ENSP00000362197:I100F;ENSP00000308012:I264F	ENSP00000308012:I264F	I	+	1	0	PABPC5	90578022	0.018000	0.18449	0.474000	0.27266	0.328000	0.28507	0.365000	0.20348	0.006000	0.14734	-0.460000	0.05396	ATC		0.458	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		52	117	0	0	0	1	0	52	117				
HIVEP1	3096	broad.mit.edu	37	6	12123822	12123822	+	Missense_Mutation	SNP	G	G	A	rs368115054		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr6:12123822G>A	ENST00000379388.2	+	4	4126	c.3794G>A	c.(3793-3795)cGt>cAt	p.R1265H	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1265					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TGGCCCCAGCGTAGTGAAACC	0.453																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(3793-3795)cGt>cAt		human immunodeficiency virus type I enhancer binding protein 1		G	HIS/ARG	0,3802		0,0,1901	78.0	76.0	77.0		3794	6.1	1.0	6		77	2,8246		0,2,4122	no	missense	HIVEP1	NM_002114.2	29	0,2,6023	AA,AG,GG		0.0242,0.0,0.0166	probably-damaging	1265/2719	12123822	2,12048	1901	4124	6025	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12123822G>A	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.3794G>A	6.37:g.12123822G>A	ENSP00000368698:p.Arg1265His						p.R1265H	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	4126	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1265					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.3794G>A	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	32	5.136955	0.94517	0.0	2.42E-4	ENSG00000095951	ENST00000379388	T	0.61627	0.09	6.07	6.07	0.98685	.	0.000000	0.36628	N	0.002483	T	0.78349	0.4269	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78560	-0.2157	9	.	.	.	-22.7219	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1265	P15822	ZEP1_HUMAN	H	1265	ENSP00000368698:R1265H	.	R	+	2	0	HIVEP1	12231808	1.000000	0.71417	0.983000	0.44433	0.991000	0.79684	9.858000	0.99539	2.884000	0.98904	0.655000	0.94253	CGT		0.453	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		187	221	0	0	0	1	0	187	221				
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs111782215|rs561398509	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2661Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602													G|||	74	0.0147764	0.028	0.0086	5008	,	,		14914	0.0079		0.0119	False		,,,				2504	0.0112					ENST00000333577.4																			4	Substitution - coding silent(4)	p.Q2741Q(3)|p.Q2742Q(1)	prostate(2)|endometrium(1)|kidney(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8332-8334)caA>caG		E1A binding protein p400							48.0	40.0	43.0					12																	132547138		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547138A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8334A>G	12.37:g.132547138A>G						EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389561.2_Silent_p.Q2742Q	p.Q2778Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8443	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2778			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8334A>G																																																																																					0.602	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		8	222	0	0	0	1	0	8	222				
IRX6	79190	broad.mit.edu	37	16	55362757	55362757	+	Silent	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr16:55362757G>A	ENST00000290552.7	+	5	2199	c.867G>A	c.(865-867)gcG>gcA	p.A289A	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	289					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						GAAAGGGCGCGCAGTCACTGC	0.657																																						ENST00000290552.7																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(865-867)gcG>gcA		iroquois homeobox 6							35.0	38.0	37.0					16																	55362757		2195	4297	6492	SO:0001819	synonymous_variant	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55362757G>A	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.867G>A	16.37:g.55362757G>A						RP11-26L20.3_ENST00000558730.2_RNA	p.A289A	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			5	2199	+			289					B2RN06|Q7Z2K0	Silent	SNP	ENST00000290552.7	37	c.867G>A	CCDS32449.1																																																																																				0.657	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		6	323	0	0	0	1	0	6	323				
SLIT3	6586	broad.mit.edu	37	5	168098211	168098211	+	Silent	SNP	G	G	A	rs531041335		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:168098211G>A	ENST00000519560.1	-	34	4538	c.4119C>T	c.(4117-4119)ctC>ctT	p.L1373L	SLIT3_ENST00000404867.3_Silent_p.L1373L|SLIT3_ENST00000332966.8_Silent_p.L1380L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1373	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCTGTGGCCGAGGCAGGGGT	0.672													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16819	0.0		0.0	False		,,,				2504	0.0				Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(4117-4119)ctC>ctT		slit homolog 3 (Drosophila)							21.0	23.0	22.0					5																	168098211		2178	4273	6451	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168098211G>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.4119C>T	5.37:g.168098211G>A						SLIT3_ENST00000332966.8_Silent_p.L1380L|SLIT3_ENST00000404867.3_Silent_p.L1373L	p.L1373L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		34	4538	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1373			EGF-like 8.		A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.4119C>T	CCDS4369.1																																																																																				0.672	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		5	167	0	0	0	1	0	5	167				
CYP4A22	284541	broad.mit.edu	37	1	47614284	47614284	+	Missense_Mutation	SNP	G	G	A	rs554623281		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:47614284G>A	ENST00000371891.3	+	12	1406	c.1375G>A	c.(1375-1377)Ggg>Agg	p.G459R	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.G361R|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	459						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAACTGCATCGGGAAACAATT	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		19658	0.0		0.001	False		,,,				2504	0.0				Pancreas(88;1240 1470 2099 14214 37557)	ENST00000371891.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1375-1377)Ggg>Agg		cytochrome P450, family 4, subfamily A, polypeptide 22							122.0	117.0	119.0					1																	47614284		2203	4300	6503	SO:0001583	missense	284541					endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	g.chr1:47614284G>A		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.1375G>A	1.37:g.47614284G>A	ENSP00000360958:p.Gly459Arg					CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.G361R|CYP4A22-AS1_ENST00000444042.2_lincRNA	p.G459R	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN			12	1406	+			459					Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	ENST00000371891.3	37	c.1375G>A	CCDS30707.1	.	.	.	.	.	.	.	.	.	.	g	19.30	3.801962	0.70682	.	.	ENSG00000162365	ENST00000371890;ENST00000371891	D;D	0.98849	-5.18;-5.18	1.13	1.13	0.20643	Cytochrome P450, conserved site (1);	0.049731	0.85682	D	0.000000	D	0.99042	0.9672	M	0.90759	3.145	0.53688	D	0.999976	D	0.89917	1.0	D	0.87578	0.998	D	0.99041	1.0824	10	0.87932	D	0	.	11.2111	0.48799	0.0:0.0:1.0:0.0	.	459	Q5TCH4	CP4AM_HUMAN	R	361;459	ENSP00000360957:G361R;ENSP00000360958:G459R	ENSP00000360957:G361R	G	+	1	0	CYP4A22	47386871	1.000000	0.71417	0.803000	0.32268	0.411000	0.31082	8.590000	0.90821	0.933000	0.37291	0.194000	0.17425	GGG		0.602	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		6	397	0	0	0	1	0	6	397				
PCDHA13	56136	broad.mit.edu	37	5	140263647	140263647	+	Silent	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:140263647C>T	ENST00000289272.2	+	1	1794	c.1794C>T	c.(1792-1794)gaC>gaT	p.D598D	PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.D598D|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	598	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGGTGGACGCCGATTCGG	0.692																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(1792-1794)gaC>gaT									66.0	71.0	69.0					5																	140263647		2202	4298	6500	SO:0001819	synonymous_variant	0							g.chr5:140263647C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1794C>T	5.37:g.140263647C>T						PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.D598D|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron	p.D598D	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1794	+								O75277	Silent	SNP	ENST00000289272.2	37	c.1794C>T	CCDS4240.1																																																																																				0.692	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		12	541	0	0	0	1	0	12	541				
SH2D3C	10044	broad.mit.edu	37	9	130507312	130507312	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:130507312C>T	ENST00000314830.8	-	7	1444	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	SH2D3C_ENST00000429553.1_Missense_Mutation_p.R90H|SH2D3C_ENST00000420366.1_Missense_Mutation_p.R286H|SH2D3C_ENST00000373274.3_Missense_Mutation_p.R284H|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373276.3_Missense_Mutation_p.R376H|SH2D3C_ENST00000373277.4_Missense_Mutation_p.R287H	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	444					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACTGGAACGGCGGGCGACAGG	0.647																																						ENST00000314830.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1330-1332)cGc>cAc		SH2 domain containing 3C							26.0	35.0	32.0					9																	130507312		2202	4295	6497	SO:0001583	missense	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130507312C>T	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1331G>A	9.37:g.130507312C>T	ENSP00000317817:p.Arg444His					SH2D3C_ENST00000420366.1_Missense_Mutation_p.R286H|SH2D3C_ENST00000429553.1_Missense_Mutation_p.R90H|SH2D3C_ENST00000373274.3_Missense_Mutation_p.R284H|SH2D3C_ENST00000373277.4_Missense_Mutation_p.R287H|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373276.3_Missense_Mutation_p.R376H	p.R444H	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN			7	1444	-			444					A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	c.1331G>A	CCDS6877.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.2|23.2	4.381718|4.381718	0.82792|0.82792	.|.	.|.	ENSG00000095370|ENSG00000095370	ENST00000440630|ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	.|T;T;T;T;T;T	.|0.42131	.|0.98;0.98;0.98;0.98;0.98;0.98	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63117|0.63117	0.2484|0.2484	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.91635	.|0.959;0.959;0.997;0.999;0.982	T|T	0.64993|0.64993	-0.6276|-0.6276	5|10	.|0.56958	.|D	.|0.05	-24.8451|-24.8451	17.5083|17.5083	0.87753|0.87753	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|284;444;376;287;286	.|E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.|.;SH2D3_HUMAN;.;.;.	T|H	281|287;286;376;284;90;444	.|ENSP00000362374:R287H;ENSP00000388536:R286H;ENSP00000362373:R376H;ENSP00000362371:R284H;ENSP00000394632:R90H;ENSP00000317817:R444H	.|ENSP00000317817:R444H	A|R	-|-	1|2	0|0	SH2D3C|SH2D3C	129547133|129547133	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.521000|0.521000	0.34408|0.34408	6.665000|6.665000	0.74442|0.74442	2.371000|2.371000	0.80710|0.80710	0.462000|0.462000	0.41574|0.41574	GCC|CGC		0.647	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		127	157	0	0	0	1	0	127	157				
CUL7	9820	broad.mit.edu	37	6	43018136	43018136	+	Splice_Site	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr6:43018136C>T	ENST00000265348.3	-	5	1319	c.1234G>A	c.(1234-1236)Gta>Ata	p.V412I	CUL7_ENST00000535468.1_Splice_Site_p.V496I|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	412	Interaction with TP53.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCCCAAAATACCTGGAGCATA	0.537																																						ENST00000535468.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.e5-1		cullin 7							75.0	67.0	70.0					6																	43018136		2203	4300	6503	SO:0001630	splice_region_variant	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43018136C>T	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.1234-1G>A	6.37:g.43018136C>T						CUL7_ENST00000265348.3_Splice_Site_p.V412_splice	p.V496_splice	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		5	1572	-			412					B4DYZ0|F5H0L1|Q5T654	Splice_Site	SNP	ENST00000265348.3	37	c.1485_splice	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	33	5.194119	0.94960	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	D;D	0.86562	-2.14;-2.13	5.2	5.2	0.72013	CPH domain (1);Translation protein SH3-like, subgroup (1);	0.060533	0.64402	D	0.000004	D	0.93426	0.7903	M	0.82923	2.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.94162	0.7415	10	0.87932	D	0	-16.6411	18.742	0.91777	0.0:1.0:0.0:0.0	.	496;412	F5H0L1;Q14999	.;CUL7_HUMAN	I	412;496	ENSP00000265348:V412I;ENSP00000438788:V496I	ENSP00000265348:V412I	V	-	1	0	CUL7	43126114	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.180000	0.77674	2.429000	0.82318	0.655000	0.94253	GTA		0.537	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780	Missense_Mutation	76	87	0	0	0	1	0	76	87				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		8	139	0	0	0	1	0	8	139				
CSPG5	10675	broad.mit.edu	37	3	47618381	47618381	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr3:47618381T>A	ENST00000383738.2	-	2	3233	c.1135A>T	c.(1135-1137)Agt>Tgt	p.S379C	CSPG5_ENST00000264723.4_Missense_Mutation_p.S379C|CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000456150.1_Missense_Mutation_p.S241C	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	379	EGF-like.				axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TGACAGTAACTTGGGAAGAGG	0.592																																						ENST00000383738.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22						c.(1135-1137)Agt>Tgt		chondroitin sulfate proteoglycan 5 (neuroglycan C)							147.0	155.0	152.0					3																	47618381		2203	4300	6503	SO:0001583	missense	10675				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	g.chr3:47618381T>A	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.1135A>T	3.37:g.47618381T>A	ENSP00000373244:p.Ser379Cys					CSPG5_ENST00000264723.4_Missense_Mutation_p.S379C|CSPG5_ENST00000456150.1_Missense_Mutation_p.S241C	p.S379C	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	3233	-			379			EGF-like.		Q71M39|Q71M40	Missense_Mutation	SNP	ENST00000383738.2	37	c.1135A>T	CCDS56253.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.029689	0.75504	.	.	ENSG00000114646	ENST00000456150;ENST00000383738;ENST00000264723	T;T;T	0.26223	1.76;1.77;1.75	4.63	4.63	0.57726	Epidermal growth factor-like (1);	0.047542	0.85682	D	0.000000	T	0.31040	0.0784	N	0.22421	0.69	0.32036	N	0.598886	D;D	0.69078	0.995;0.997	P;P	0.58660	0.72;0.843	T	0.35847	-0.9772	10	0.62326	D	0.03	-8.4774	12.9957	0.58646	0.0:0.0:0.0:1.0	.	379;379	O95196;O95196-2	CSPG5_HUMAN;.	C	241;379;379	ENSP00000392096:S241C;ENSP00000373244:S379C;ENSP00000264723:S379C	ENSP00000264723:S379C	S	-	1	0	CSPG5	47593385	1.000000	0.71417	0.960000	0.40013	0.994000	0.84299	3.360000	0.52299	1.931000	0.55961	0.533000	0.62120	AGT		0.592	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574		49	875	0	0	0	1	0	49	875				
MROH2B	133558	broad.mit.edu	37	5	40999870	40999870	+	Missense_Mutation	SNP	G	G	T	rs201575411		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:40999870G>T	ENST00000399564.4	-	40	4944	c.4494C>A	c.(4492-4494)aaC>aaA	p.N1498K	MROH2B_ENST00000506092.2_Missense_Mutation_p.N1053K	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1498																	GAATTTCCTGGTTTTTCTTGG	0.468																																						ENST00000399564.4																			0											c.(4492-4494)aaC>aaA		maestro heat-like repeat family member 2B							183.0	182.0	182.0					5																	40999870		1875	4111	5986	SO:0001583	missense	133558							g.chr5:40999870G>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.4494C>A	5.37:g.40999870G>T	ENSP00000382476:p.Asn1498Lys					MROH2B_ENST00000506092.2_Missense_Mutation_p.N1053K	p.N1498K	NM_173489.4	NP_775760.3					40	4944	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.4494C>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.525910	0.44969	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.64438	-0.1;-0.1	4.95	3.15	0.36227	Armadillo-like helical (1);Armadillo-type fold (1);	0.229493	0.30686	N	0.009091	T	0.56891	0.2016	N	0.25144	0.715	0.25604	N	0.986566	D	0.62365	0.991	P	0.58520	0.84	T	0.46233	-0.9206	10	0.28530	T	0.3	.	7.7749	0.29030	0.1857:0.0:0.8143:0.0	.	1498	Q7Z745	HTRB2_HUMAN	K	1053;1203;1498	ENSP00000441504:N1053K;ENSP00000382476:N1498K	ENSP00000296803:N1203K	N	-	3	2	HEATR7B2	41035627	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	0.650000	0.24858	0.649000	0.30751	0.655000	0.94253	AAC		0.468	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		8	320	1	0	5.68852e-11	1	6.13243e-11	8	320				
SPTBN5	51332	broad.mit.edu	37	15	42172014	42172014	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr15:42172014T>C	ENST00000320955.6	-	15	3087	c.2860A>G	c.(2860-2862)Agc>Ggc	p.S954G		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	954					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCAGAGCTGCTGACCTCAGCC	0.562																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(2860-2862)Agc>Ggc		spectrin, beta, non-erythrocytic 5							75.0	74.0	74.0					15																	42172014		2032	4183	6215	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42172014T>C	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.2860A>G	15.37:g.42172014T>C	ENSP00000317790:p.Ser954Gly						p.S954G	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	15	3087	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	954						Missense_Mutation	SNP	ENST00000320955.6	37	c.2860A>G		.	.	.	.	.	.	.	.	.	.	.	11.28	1.590778	0.28357	.	.	ENSG00000137877	ENST00000320955	T	0.50548	0.74	4.91	3.8	0.43715	.	0.838822	0.10828	N	0.629625	T	0.37237	0.0996	L	0.41236	1.265	0.09310	N	0.999995	B	0.14438	0.01	B	0.15052	0.012	T	0.18209	-1.0344	10	0.44086	T	0.13	.	6.5202	0.22271	0.0:0.1072:0.0:0.8928	.	954	Q9NRC6	SPTN5_HUMAN	G	954	ENSP00000317790:S954G	ENSP00000317790:S954G	S	-	1	0	SPTBN5	39959306	0.325000	0.24660	0.842000	0.33263	0.990000	0.78478	0.367000	0.20382	1.834000	0.53371	0.402000	0.26972	AGC		0.562	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		39	156	0	0	0	1	0	39	156				
TP53TG3HP	100130700	broad.mit.edu	37	16	34739676	34739676	+	lincRNA	SNP	G	G	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr16:34739676G>T	ENST00000562591.1	-	0	246				RP11-80F22.2_ENST00000569755.2_RNA	NR_034019.1																						ATGCTCCAAAGAGATGTCCCA	0.408																																						ENST00000562591.1																			0																																																			0							g.chr16:34739676G>T																													16.37:g.34739676G>T								NR_034019.1						0	246	-									RNA	SNP	ENST00000562591.1	37																																																																																						0.408	RP11-80F22.15-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000465648.1			47	51	1	0	2.37825e-27	1	2.57874e-27	47	51				
VAX1	11023	broad.mit.edu	37	10	118896117	118896117	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr10:118896117G>A	ENST00000369206.5	-	2	294	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	VAX1_ENST00000277905.2_Missense_Mutation_p.R99W	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	99					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R99W(4)		endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CTCTTAGGCCGGTCCAAGTCC	0.657																																						ENST00000277905.2																			4	Substitution - Missense(4)	p.R99W(4)	lung(4)	endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12						c.(295-297)Cgg>Tgg		ventral anterior homeobox 1							53.0	47.0	49.0					10																	118896117		2203	4300	6503	SO:0001583	missense	11023					nucleus	sequence-specific DNA binding	g.chr10:118896117G>A	AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"""Homeoboxes / ANTP class : NKL subclass"""	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.295C>T	10.37:g.118896117G>A	ENSP00000358207:p.Arg99Trp					VAX1_ENST00000369206.5_Missense_Mutation_p.R99W	p.R99W	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN		all cancers(201;0.0108)	2	539	-			99					B1AVW5|Q6ZSX0	Missense_Mutation	SNP	ENST00000369206.5	37	c.295C>T	CCDS44483.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.116981	0.56505	.	.	ENSG00000148704	ENST00000277905;ENST00000369206	D;D	0.96073	-3.9;-3.9	3.9	1.9	0.25705	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.64402	D	0.000001	D	0.96228	0.8770	L	0.60455	1.87	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.79108	0.958;0.992	D	0.94889	0.8046	10	0.87932	D	0	-15.033	9.7636	0.40548	0.0:0.1531:0.6881:0.1588	.	99;99	Q5SQQ9;Q5SQQ9-2	VAX1_HUMAN;.	W	99	ENSP00000277905:R99W;ENSP00000358207:R99W	ENSP00000277905:R99W	R	-	1	2	VAX1	118886107	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.303000	0.78871	0.265000	0.21872	0.305000	0.20034	CGG		0.657	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050559.3	XM_301242		5	253	0	0	0	1	0	5	253				
FMN2	56776	broad.mit.edu	37	1	240371102	240371102	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:240371102T>C	ENST00000319653.9	+	5	3220	c.2990T>C	c.(2989-2991)aTa>aCa	p.I997T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	997	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGAGCGGGCATACCCCCTCCG	0.697																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(2989-2991)aTa>aCa		formin 2							6.0	8.0	7.0					1																	240371102		2087	4125	6212	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371102T>C	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2990T>C	1.37:g.240371102T>C	ENSP00000318884:p.Ile997Thr						p.I997T	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3220	+	Ovarian(103;0.127)	all_cancers(173;0.013)	997			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2990T>C	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	T	7.382	0.628915	0.14257	.	.	ENSG00000155816	ENST00000319653	T	0.60672	0.17	3.66	2.52	0.30459	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	.	.	.	.	T	0.57242	0.2040	M	0.80746	2.51	0.18873	N	0.999984	B	0.18968	0.032	B	0.19666	0.026	T	0.50668	-0.8801	8	.	.	.	.	8.8658	0.35284	0.0:0.0912:0.0:0.9088	.	997	Q9NZ56	FMN2_HUMAN	T	997	ENSP00000318884:I997T	.	I	+	2	0	FMN2	238437725	0.011000	0.17503	0.010000	0.14722	0.078000	0.17371	1.947000	0.40293	0.599000	0.29845	0.392000	0.25879	ATA		0.697	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		31	88	0	0	0	1	0	31	88				
ATP10D	57205	broad.mit.edu	37	4	47578839	47578839	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr4:47578839G>T	ENST00000273859.3	+	19	3685	c.3416G>T	c.(3415-3417)gGa>gTa	p.G1139V		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1139					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GGATTTTCAGGAACATCCATG	0.418																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(3415-3417)gGa>gTa		ATPase, class V, type 10D							406.0	382.0	390.0					4																	47578839		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47578839G>T	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.3416G>T	4.37:g.47578839G>T	ENSP00000273859:p.Gly1139Val						p.G1139V	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			19	3685	+			1139					A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.3416G>T	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123224	0.77436	.	.	ENSG00000145246	ENST00000273859	T	0.38887	1.11	5.21	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.73613	0.3609	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.82354	-0.0499	10	0.87932	D	0	-18.6669	13.0364	0.58875	0.077:0.0:0.923:0.0	.	1139	Q9P241	AT10D_HUMAN	V	1139	ENSP00000273859:G1139V	ENSP00000273859:G1139V	G	+	2	0	ATP10D	47273596	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	6.605000	0.74155	1.443000	0.47586	0.561000	0.74099	GGA		0.418	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		364	789	1	0	2.55502e-134	1	2.80301e-134	364	789				
ERG	2078	broad.mit.edu	37	21	39755757	39755757	+	Silent	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr21:39755757G>A	ENST00000417133.2	-	12	1214	c.1029C>T	c.(1027-1029)aaC>aaT	p.N343N	ERG_ENST00000442448.1_Silent_p.N319N|ERG_ENST00000453032.2_Silent_p.N244N|ERG_ENST00000398907.1_Silent_p.N313N|ERG_ENST00000398910.1_Silent_p.N320N|ERG_ENST00000398919.2_Silent_p.N343N|ERG_ENST00000398897.1_Silent_p.N220N|ERG_ENST00000398905.1_Silent_p.N312N|ERG_ENST00000398911.1_Silent_p.N319N|ERG_ENST00000288319.7_Silent_p.N336N	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	TGAACTCCCCGTTGGTGCCTT	0.607			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""																																Esophageal Squamous(130;336 1700 3010 3083 40589)	ENST00000442448.1				Dom	yes		21	21q22.3	2078	T	v-ets erythroblastosis virus E26 oncogene like (avian)			"""M, E, L"""	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""		"""Ewing sarcoma, prostate, AML"""	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	0				lung(2)|ovary(1)|skin(1)	4						c.(955-957)aaC>aaT		v-ets avian erythroblastosis virus E26 oncogene homolog							72.0	68.0	69.0					21																	39755757		2203	4300	6503	SO:0001819	synonymous_variant	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39755757G>A		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"""v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific"""	165080	"""v-ets avian erythroblastosis virus E26 oncogene related"""			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.1029C>T	21.37:g.39755757G>A						ERG_ENST00000398897.1_Silent_p.N220N|ERG_ENST00000398919.2_Silent_p.N343N|ERG_ENST00000417133.2_Silent_p.N343N|ERG_ENST00000398905.1_Silent_p.N312N|ERG_ENST00000288319.7_Silent_p.N336N|ERG_ENST00000398907.1_Silent_p.N313N|ERG_ENST00000398911.1_Silent_p.N319N|ERG_ENST00000453032.2_Silent_p.N244N|ERG_ENST00000398910.1_Silent_p.N320N	p.N319N	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN			11	1228	-		Prostate(19;3.6e-06)	343					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000417133.2	37	c.957C>T	CCDS46648.1																																																																																				0.607	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		163	123	0	0	0	1	0	163	123				
GRIN1	2902	broad.mit.edu	37	9	140036550	140036550	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:140036550G>A	ENST00000371561.3	+	2	1441	c.344G>A	c.(343-345)cGc>cAc	p.R115H	GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371553.3_Missense_Mutation_p.R115H|GRIN1_ENST00000350902.5_Missense_Mutation_p.R115H|GRIN1_ENST00000371560.3_Missense_Mutation_p.R115H|GRIN1_ENST00000371546.4_Missense_Mutation_p.R115H|GRIN1_ENST00000371555.4_Missense_Mutation_p.R115H|GRIN1_ENST00000315048.3_Missense_Mutation_p.R115H|GRIN1_ENST00000371550.4_Missense_Mutation_p.R115H|GRIN1_ENST00000371559.4_Missense_Mutation_p.R115H	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	115					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGCTTCTACCGCATACCCGTG	0.627																																					NSCLC(113;717 1653 2089 20474 37618)	ENST00000371561.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(343-345)cGc>cAc		glutamate receptor, ionotropic, N-methyl D-aspartate 1	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						303.0	239.0	261.0					9																	140036550		2203	4300	6503	SO:0001583	missense	2902				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	g.chr9:140036550G>A		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4584	protein-coding gene	gene with protein product		138249	"""N-methyl-D-aspartate receptor subunit NR1"""	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.344G>A	9.37:g.140036550G>A	ENSP00000360616:p.Arg115His					GRIN1_ENST00000371559.4_Missense_Mutation_p.R115H|GRIN1_ENST00000371560.3_Missense_Mutation_p.R115H|GRIN1_ENST00000371550.4_Missense_Mutation_p.R115H|GRIN1_ENST00000315048.3_Missense_Mutation_p.R115H|GRIN1_ENST00000371553.3_Missense_Mutation_p.R115H|GRIN1_ENST00000350902.5_Missense_Mutation_p.R115H|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371546.4_Missense_Mutation_p.R115H|GRIN1_ENST00000371555.4_Missense_Mutation_p.R115H	p.R115H	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	2	1441	+	all_cancers(76;0.0926)		115					A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Missense_Mutation	SNP	ENST00000371561.3	37	c.344G>A	CCDS7031.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253210	0.39797	.	.	ENSG00000176884	ENST00000371561;ENST00000315048;ENST00000350902;ENST00000371550;ENST00000371546;ENST00000371555;ENST00000371553;ENST00000371559;ENST00000371560	T;T;T;T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95	3.37	3.37	0.38596	Extracellular ligand-binding receptor (1);	0.064954	0.64402	D	0.000016	T	0.27098	0.0664	N	0.17800	0.525	0.58432	D	0.999996	D;B;D;D;D;B	0.89917	1.0;0.047;1.0;1.0;1.0;0.336	D;B;D;D;D;B	0.74348	0.983;0.032;0.921;0.921;0.967;0.06	T	0.03555	-1.1025	10	0.18710	T	0.47	.	13.8091	0.63252	0.0:0.0:1.0:0.0	.	115;115;115;115;115;115	Q5VSF4;Q5VSF5;Q05586-2;Q05586-3;Q05586;A2AVK2	.;.;.;.;NMDZ1_HUMAN;.	H	115	ENSP00000360616:R115H;ENSP00000316696:R115H;ENSP00000316915:R115H;ENSP00000360605:R115H;ENSP00000360601:R115H;ENSP00000360610:R115H;ENSP00000360608:R115H;ENSP00000360614:R115H;ENSP00000360615:R115H	ENSP00000316696:R115H	R	+	2	0	GRIN1	139156371	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	7.004000	0.76317	1.887000	0.54652	0.462000	0.41574	CGC		0.627	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3	NM_007327		6	557	0	0	0	1	0	6	557				
KIAA1549L	25758	broad.mit.edu	37	11	33566734	33566734	+	Silent	SNP	G	G	A	rs375043401		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr11:33566734G>A	ENST00000321505.4	+	2	2484	c.2304G>A	c.(2302-2304)acG>acA	p.T768T	KIAA1549L_ENST00000265654.5_Silent_p.T774T|KIAA1549L_ENST00000389726.3_Silent_p.T774T			Q6ZVL6	K154L_HUMAN	KIAA1549-like	768						integral component of membrane (GO:0016021)											GAGCATCCACGCCACGCCCAC	0.597																																						ENST00000321505.4																			0											c.(2302-2304)acG>acA		KIAA1549-like		G		0,4364		0,0,2182	107.0	131.0	123.0		2304	2.8	0.7	11		123	4,8554		0,4,4275	no	coding-synonymous	C11orf41	NM_012194.2		0,4,6457	AA,AG,GG		0.0467,0.0,0.031		768/1850	33566734	4,12918	2182	4279	6461	SO:0001819	synonymous_variant	25758							g.chr11:33566734G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.2304G>A	11.37:g.33566734G>A						KIAA1549L_ENST00000389726.3_Silent_p.T774T|KIAA1549L_ENST00000265654.5_Silent_p.T774T	p.T768T							2	2484	+								B0QYU0	Silent	SNP	ENST00000321505.4	37	c.2304G>A	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	4.311	0.056954	0.08339	0.0	4.67E-4	ENSG00000110427	ENST00000526400	.	.	.	5.74	2.83	0.33086	.	.	.	.	.	T	0.53899	0.1825	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43261	-0.9402	4	.	.	.	-19.8733	5.5286	0.16972	0.1325:0.5203:0.2751:0.0721	.	.	.	.	H	166	.	.	R	+	2	0	C11orf41	33523310	0.093000	0.21703	0.701000	0.30321	0.570000	0.35934	0.279000	0.18771	0.341000	0.23771	-0.311000	0.09066	CGC		0.597	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		269	173	0	0	0	1	0	269	173				
DMBT1	1755	broad.mit.edu	37	10	124377583	124377583	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr10:124377583C>T	ENST00000338354.3	+	38	4661	c.4555C>T	c.(4555-4557)Cga>Tga	p.R1519*	DMBT1_ENST00000330163.4_Nonsense_Mutation_p.R891*|DMBT1_ENST00000368956.2_Nonsense_Mutation_p.R891*|DMBT1_ENST00000344338.3_Nonsense_Mutation_p.R1509*|DMBT1_ENST00000368955.3_Nonsense_Mutation_p.R1509*|DMBT1_ENST00000359586.6_Nonsense_Mutation_p.R370*|DMBT1_ENST00000368909.3_Nonsense_Mutation_p.R1519*			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1519	SRCR 12. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGACAGGTGTCGAGGCCGAGT	0.572																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(4555-4557)Cga>Tga		deleted in malignant brain tumors 1							355.0	354.0	355.0					10																	124377583		2044	4206	6250	SO:0001587	stop_gained	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124377583C>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.4555C>T	10.37:g.124377583C>T	ENSP00000342210:p.Arg1519*					DMBT1_ENST00000344338.3_Nonsense_Mutation_p.R1509*|DMBT1_ENST00000368956.2_Nonsense_Mutation_p.R891*|DMBT1_ENST00000330163.4_Nonsense_Mutation_p.R891*|DMBT1_ENST00000368955.3_Nonsense_Mutation_p.R1509*|DMBT1_ENST00000368909.3_Nonsense_Mutation_p.R1519*|DMBT1_ENST00000359586.6_Nonsense_Mutation_p.R370*	p.R1519*			Q9UGM3	DMBT1_HUMAN			38	4661	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1519			SRCR 12.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Nonsense_Mutation	SNP	ENST00000338354.3	37	c.4555C>T		.	.	.	.	.	.	.	.	.	.	C	37	6.433746	0.97564	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	.	.	.	3.87	1.76	0.24704	.	1940.690000	0.00664	U	0.000607	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	13.0765	0.59089	0.0:0.3998:0.6002:0.0	.	.	.	.	X	1519;1648;1519;1519;1519;1519;891;1509;891;891;1519;1509;891;370	.	ENSP00000331522:R891X	R	+	1	2	DMBT1	124367573	0.000000	0.05858	0.818000	0.32626	0.215000	0.24574	-0.087000	0.11215	0.743000	0.32719	0.298000	0.19748	CGA		0.572	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		43	1588	0	0	0	1	0	43	1588				
COL6A2	1292	broad.mit.edu	37	21	47545713	47545713	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr21:47545713G>A	ENST00000300527.4	+	26	2088	c.1984G>A	c.(1984-1986)Gtg>Atg	p.V662M	COL6A2_ENST00000357838.4_Missense_Mutation_p.V662M|COL6A2_ENST00000310645.5_Missense_Mutation_p.V662M|COL6A2_ENST00000409416.1_Missense_Mutation_p.V662M|COL6A2_ENST00000397763.1_Missense_Mutation_p.V662M	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	662	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GCGTGTGGGCGTGGTGCAGTA	0.647																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1984-1986)Gtg>Atg		collagen, type VI, alpha 2							51.0	42.0	45.0					21																	47545713		2203	4300	6503	SO:0001583	missense	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47545713G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1984G>A	21.37:g.47545713G>A	ENSP00000300527:p.Val662Met					COL6A2_ENST00000397763.1_Missense_Mutation_p.V662M|COL6A2_ENST00000409416.1_Missense_Mutation_p.V662M|COL6A2_ENST00000310645.5_Missense_Mutation_p.V662M|COL6A2_ENST00000357838.4_Missense_Mutation_p.V662M	p.V662M	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	26	2088	+	Breast(49;0.245)		662			Nonhelical region.|VWFA 2.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.1984G>A	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095283	0.56075	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763;ENST00000413758	T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	4.4	4.4	0.53042	von Willebrand factor, type A (3);	0.060524	0.64402	D	0.000003	D	0.90232	0.6946	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.992;0.983	D	0.92198	0.5765	10	0.87932	D	0	-16.5413	16.9942	0.86362	0.0:0.0:1.0:0.0	.	662;662;662	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	M	662;662;662;662;662;219	ENSP00000300527:V662M;ENSP00000350497:V662M;ENSP00000312529:V662M;ENSP00000387115:V662M;ENSP00000380870:V662M;ENSP00000395751:V219M	ENSP00000300527:V662M	V	+	1	0	COL6A2	46370141	1.000000	0.71417	0.997000	0.53966	0.272000	0.26649	5.659000	0.68010	1.998000	0.58463	0.491000	0.48974	GTG		0.647	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			41	81	0	0	0	1	0	41	81				
RP11-252A24.2	0	broad.mit.edu	37	16	74372644	74372644	+	RNA	SNP	A	A	G			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr16:74372644A>G	ENST00000429810.2	-	0	1552																											TACCCTTGTCAGGGGGAACAA	0.443																																						ENST00000429810.2																			0																																																			0							g.chr16:74372644A>G																													16.37:g.74372644A>G														0	1552	-									RNA	SNP	ENST00000429810.2	37																																																																																						0.443	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			7	178	0	0	0	1	0	7	178				
GLI4	2738	broad.mit.edu	37	8	144358694	144358694	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr8:144358694G>A	ENST00000523522.1	+	3	890	c.851G>A	c.(850-852)cGc>cAc	p.R284H	GLI4_ENST00000523812.1_3'UTR|GLI4_ENST00000340042.1_Missense_Mutation_p.R284H			P10075	GLI4_HUMAN	GLI family zinc finger 4	284					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AACCTGGTGCGCCACCAGCGG	0.657																																						ENST00000340042.1																			0				endometrium(3)|large_intestine(1)|lung(5)	9						c.(850-852)cGc>cAc		GLI family zinc finger 4							28.0	29.0	29.0					8																	144358694		2203	4299	6502	SO:0001583	missense	2738					nucleus	DNA binding|zinc ion binding	g.chr8:144358694G>A		CCDS6398.1	8q24.3	2013-01-08	2009-03-05		ENSG00000250571	ENSG00000250571		"""Zinc fingers, C2H2-type"""	4320	protein-coding gene	gene with protein product		165280	"""GLI-Kruppel family member GLI4"", ""glioma-associated oncogene family zinc finger 4"""			2850480	Standard	NM_138465		Approved	HKR4, ZNF928	uc003yxx.3	P10075	OTTHUMG00000164952	ENST00000523522.1:c.851G>A	8.37:g.144358694G>A	ENSP00000430987:p.Arg284His					GLI4_ENST00000523812.1_3'UTR|GLI4_ENST00000523522.1_Missense_Mutation_p.R284H	p.R284H	NM_138465.3	NP_612474.1	P10075	GLI4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		4	936	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		284					Q96CK9	Missense_Mutation	SNP	ENST00000523522.1	37	c.851G>A	CCDS6398.1	.	.	.	.	.	.	.	.	.	.	G	6.257	0.415526	0.11870	.	.	ENSG00000250571	ENST00000340042;ENST00000523522	T;T	0.07567	3.18;3.18	3.97	2.07	0.26955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16896	0.0406	M	0.75447	2.3	0.09310	N	1	D	0.89917	1.0	P	0.62382	0.901	T	0.20438	-1.0275	9	0.12103	T	0.63	.	2.7474	0.05271	0.1058:0.182:0.5251:0.1871	.	284	P10075	GLI4_HUMAN	H	284	ENSP00000345024:R284H;ENSP00000430987:R284H	ENSP00000345024:R284H	R	+	2	0	GLI4	144430069	0.000000	0.05858	0.990000	0.47175	0.105000	0.19272	-1.500000	0.02283	0.851000	0.35264	-0.320000	0.08662	CGC		0.657	GLI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381128.2			4	125	0	0	0	1	0	4	125				
PRR14	78994	broad.mit.edu	37	16	30667562	30667562	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr16:30667562G>A	ENST00000542965.2	+	11	2144	c.1688G>A	c.(1687-1689)cGg>cAg	p.R563Q	FBRS_ENST00000356166.6_5'Flank|PRR14_ENST00000300835.4_Missense_Mutation_p.R563Q			Q9BWN1	PRR14_HUMAN	proline rich 14	563										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CTCCAGCAGCGGCTGGAGGAG	0.637																																						ENST00000542965.2																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18						c.(1687-1689)cGg>cAg		proline rich 14							34.0	41.0	39.0					16																	30667562		2193	4288	6481	SO:0001583	missense	78994							g.chr16:30667562G>A	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.1688G>A	16.37:g.30667562G>A	ENSP00000441641:p.Arg563Gln					PRR14_ENST00000300835.4_Missense_Mutation_p.R563Q	p.R563Q			Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)		11	2144	+			563					Q8WTX2	Missense_Mutation	SNP	ENST00000542965.2	37	c.1688G>A	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393412	0.83011	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.55588	0.51;0.51	5.98	5.98	0.97165	.	0.065664	0.64402	D	0.000016	T	0.70351	0.3214	L	0.56769	1.78	0.33755	D	0.621066	D	0.89917	1.0	D	0.85130	0.997	T	0.77172	-0.2685	10	0.72032	D	0.01	-12.3479	17.346	0.87309	0.0:0.0:1.0:0.0	.	563	Q9BWN1	PRR14_HUMAN	Q	536;563;563	ENSP00000300835:R563Q;ENSP00000441641:R563Q	ENSP00000287463:R536Q	R	+	2	0	PRR14	30575063	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	3.747000	0.55134	2.839000	0.97877	0.650000	0.86243	CGG		0.637	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	NM_024031		6	355	0	0	0	1	0	6	355				
GOLGA2P5	55592	broad.mit.edu	37	12	100550723	100550723	+	RNA	SNP	G	G	C			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr12:100550723G>C	ENST00000397112.4	-	0	2098				RN7SL176P_ENST00000580352.1_RNA|AC010203.1_ENST00000408843.1_RNA	NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						CAAGCTACTGGGGGGCGGGGG	0.647																																						ENST00000397112.4																			0				large_intestine(1)|lung(3)	4															11.0	16.0	14.0					12																	100550723		691	1591	2282			0							g.chr12:100550723G>C																													12.37:g.100550723G>C								NR_036632.1						0	2098	-								Q9NSV2	RNA	SNP	ENST00000397112.4	37																																																																																						0.647	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2			62	79	0	0	0	1	0	62	79				
DSCAML1	57453	broad.mit.edu	37	11	117335865	117335865	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr11:117335865G>A	ENST00000321322.6	-	17	3239	c.3238C>T	c.(3238-3240)Cgg>Tgg	p.R1080W	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R810W	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1020	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.R1080W(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGGTAGCCCCGGATGACACCG	0.582																																						ENST00000321322.6																			1	Substitution - Missense(1)	p.R1080W(1)	endometrium(1)	breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(3238-3240)Cgg>Tgg		Down syndrome cell adhesion molecule like 1							89.0	78.0	81.0					11																	117335865		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117335865G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3238C>T	11.37:g.117335865G>A	ENSP00000315465:p.Arg1080Trp					DSCAML1_ENST00000527706.1_Missense_Mutation_p.R810W	p.R1080W	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	17	3239	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1020			Fibronectin type-III 2.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.3238C>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477519	0.84640	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.57752	0.38;0.38	4.78	3.85	0.44370	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75889	0.3911	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81276	-0.1006	9	0.62326	D	0.03	.	14.6688	0.68929	0.0:0.0:0.8543:0.1457	.	1020	Q8TD84	DSCL1_HUMAN	W	810;1080;787	ENSP00000434335:R810W;ENSP00000315465:R1080W	ENSP00000315465:R1080W	R	-	1	2	DSCAML1	116841075	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.801000	0.85960	1.206000	0.43276	0.561000	0.74099	CGG		0.582	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		20	245	0	0	0	1	0	20	245				
ADAM29	11086	broad.mit.edu	37	4	175897739	175897739	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr4:175897739A>C	ENST00000359240.3	+	5	1733	c.1063A>C	c.(1063-1065)Ata>Cta	p.I355L	ADAM29_ENST00000404450.4_Missense_Mutation_p.I355L|ADAM29_ENST00000445694.1_Missense_Mutation_p.I355L|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.I355L	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	355	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ACCTAGATGCATAATGCATGA	0.383																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(1063-1065)Ata>Cta		ADAM metallopeptidase domain 29							135.0	131.0	132.0					4																	175897739		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897739A>C	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1063A>C	4.37:g.175897739A>C	ENSP00000352177:p.Ile355Leu					ADAM29_ENST00000514159.1_Missense_Mutation_p.I355L|ADAM29_ENST00000404450.4_Missense_Mutation_p.I355L|ADAM29_ENST00000445694.1_Missense_Mutation_p.I355L	p.I355L	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1733	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	355			Peptidase M12B.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.1063A>C	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	A	12.81	2.051005	0.36181	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	3.6	-2.98	0.05513	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.34223	U	0.004153	T	0.62938	0.2469	M	0.75264	2.295	0.09310	N	1	B	0.26602	0.154	B	0.36608	0.229	T	0.54768	-0.8244	9	.	.	.	.	1.1175	0.01718	0.4255:0.1445:0.098:0.332	.	355	Q9UKF5	ADA29_HUMAN	L	355	ENSP00000352177:I355L;ENSP00000414544:I355L;ENSP00000384229:I355L;ENSP00000423517:I355L	.	I	+	1	0	ADAM29	176134314	0.013000	0.17824	0.004000	0.12327	0.024000	0.10985	-0.038000	0.12144	-0.459000	0.07013	0.472000	0.43445	ATA		0.383	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				127	464	0	0	0	1	0	127	464				
SLCO2B1	11309	broad.mit.edu	37	11	74904292	74904292	+	Missense_Mutation	SNP	C	C	T	rs543049597	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr11:74904292C>T	ENST00000289575.5	+	9	1500	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	SLCO2B1_ENST00000428359.2_Missense_Mutation_p.R347C|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.R142C|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.R114C|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.R253C|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.R142C|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.R225C	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	369					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	GCAGACCCTACGCCACCCCAT	0.642													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17961	0.0		0.0	False		,,,				2504	0.0					ENST00000289575.5																			0				breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39						c.(1105-1107)Cgc>Tgc		solute carrier organic anion transporter family, member 2B1	Ergoloid mesylate(DB01049)						82.0	77.0	78.0					11																	74904292		2200	4293	6493	SO:0001583	missense	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74904292C>T	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.1105C>T	11.37:g.74904292C>T	ENSP00000289575:p.Arg369Cys					SLCO2B1_ENST00000428359.2_Missense_Mutation_p.R347C|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.R142C|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.R114C|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.R142C|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.R253C|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.R225C	p.R369C	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN			9	1500	+			369					A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.1105C>T	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464857	0.63513	.	.	ENSG00000137491	ENST00000289575;ENST00000341411;ENST00000532236;ENST00000531756;ENST00000525650;ENST00000454962;ENST00000428359	T;D;D;D;D;D;T	0.83250	-0.01;-1.7;-1.7;-1.7;-1.7;-1.7;-0.01	5.21	4.3	0.51218	Major facilitator superfamily domain, general substrate transporter (1);	0.291381	0.33401	N	0.004945	D	0.84552	0.5497	L	0.41632	1.29	0.50813	D	0.999895	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.82454	-0.0449	10	0.40728	T	0.16	.	6.5594	0.22478	0.1787:0.7296:0.0:0.0917	.	225;114;142;369	E9PPU8;E9PPJ4;O94956-2;O94956	.;.;.;SO2B1_HUMAN	C	369;142;253;114;225;142;347	ENSP00000289575:R369C;ENSP00000341286:R142C;ENSP00000434112:R253C;ENSP00000432650:R114C;ENSP00000436324:R225C;ENSP00000389653:R142C;ENSP00000388912:R347C	ENSP00000289575:R369C	R	+	1	0	SLCO2B1	74581940	0.923000	0.31300	1.000000	0.80357	0.859000	0.49053	1.115000	0.31209	1.217000	0.43442	0.556000	0.70494	CGC		0.642	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		12	326	0	0	0	1	0	12	326				
PCDHA4	56144	broad.mit.edu	37	5	140188137	140188137	+	Silent	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:140188137C>T	ENST00000530339.1	+	1	1365	c.1365C>T	c.(1363-1365)ttC>ttT	p.F455F	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Silent_p.F455F|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.F455F|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	455	Cadherin 4. {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)			CTCCGGCGTTCGCGCAGCCCG	0.657																																						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.(1363-1365)ttC>ttT									69.0	71.0	70.0					5																	140188137		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140188137C>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.1365C>T	5.37:g.140188137C>T						PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.F455F|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Silent_p.F455F	p.F455F	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1365	+								O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.1365C>T	CCDS54916.1																																																																																				0.657	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		8	363	0	0	0	1	0	8	363				
COL5A1	1289	broad.mit.edu	37	9	137721880	137721880	+	Missense_Mutation	SNP	G	G	A	rs193275092	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:137721880G>A	ENST00000371817.3	+	64	5540	c.5126G>A	c.(5125-5127)cGt>cAt	p.R1709H		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1709	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.R1709H(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GAATTCAAGCGTGGGAAACTG	0.537													G|||	3	0.000599042	0.0015	0.0	5008	,	,		16246	0.001		0.0	False		,,,				2504	0.0					ENST00000371817.3																			1	Substitution - Missense(1)	p.R1709H(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(5125-5127)cGt>cAt		collagen, type V, alpha 1		G	HIS/ARG	0,4406		0,0,2203	83.0	78.0	80.0		5126	5.0	1.0	9		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL5A1	NM_000093.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	1709/1839	137721880	1,13005	2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137721880G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.5126G>A	9.37:g.137721880G>A	ENSP00000360882:p.Arg1709His						p.R1709H	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	64	5540	+		Myeloproliferative disorder(178;0.0341)	1709			Fibrillar collagen NC1.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.5126G>A	CCDS6982.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.45	3.627734	0.66901	0.0	1.16E-4	ENSG00000130635	ENST00000371817	T	0.73575	-0.76	4.99	4.99	0.66335	Fibrillar collagen, C-terminal (3);	0.000000	0.64402	U	0.000001	T	0.76564	0.4005	M	0.87682	2.9	0.53688	D	0.999972	P	0.34724	0.465	B	0.21151	0.033	T	0.81226	-0.1029	10	0.66056	D	0.02	.	18.6249	0.91333	0.0:0.0:1.0:0.0	.	1709	P20908	CO5A1_HUMAN	H	1709	ENSP00000360882:R1709H	ENSP00000360882:R1709H	R	+	2	0	COL5A1	136861701	1.000000	0.71417	0.984000	0.44739	0.994000	0.84299	7.918000	0.87506	2.453000	0.82957	0.655000	0.94253	CGT		0.537	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		9	183	0	0	0	1	0	9	183				
CASR	846	broad.mit.edu	37	3	122002846	122002846	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr3:122002846C>T	ENST00000490131.1	+	7	2417	c.2045C>T	c.(2044-2046)cCg>cTg	p.P682L	CASR_ENST00000498619.1_Missense_Mutation_p.P692L|CASR_ENST00000296154.5_Missense_Mutation_p.P682L|AC068754.1_ENST00000408547.1_RNA	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	682					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTGCGCCAGCCGGCCTTTGGC	0.607																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(2074-2076)cCg>cTg		calcium-sensing receptor	Cinacalcet(DB01012)						91.0	78.0	82.0					3																	122002846		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122002846C>T	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2045C>T	3.37:g.122002846C>T	ENSP00000418685:p.Pro682Leu					CASR_ENST00000296154.5_Missense_Mutation_p.P682L|CASR_ENST00000490131.1_Missense_Mutation_p.P682L	p.P692L	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	2513	+			682					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.2075C>T	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859543	0.71834	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.87412	-2.25;-2.25;-2.25	6.04	6.04	0.98038	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.89157	0.6635	N	0.20610	0.595	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.97110	1.0;0.833	D	0.87897	0.2688	10	0.34782	T	0.22	.	19.5674	0.95401	0.0:1.0:0.0:0.0	.	692;682	E7ENE0;P41180	.;CASR_HUMAN	L	682;692;682	ENSP00000418685:P682L;ENSP00000420194:P692L;ENSP00000296154:P682L	ENSP00000296154:P682L	P	+	2	0	CASR	123485536	1.000000	0.71417	0.963000	0.40424	0.965000	0.64279	7.818000	0.86416	2.873000	0.98535	0.561000	0.74099	CCG		0.607	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		97	285	0	0	0	1	0	97	285				
IPO9	55705	broad.mit.edu	37	1	201843427	201843427	+	Silent	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:201843427G>A	ENST00000361565.4	+	21	2829	c.2760G>A	c.(2758-2760)ctG>ctA	p.L920L		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	920					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						TCCTAAAGCTGATCATCAACG	0.522																																						ENST00000361565.4																			0				cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(2758-2760)ctG>ctA		importin 9							137.0	128.0	131.0					1																	201843427		2203	4300	6503	SO:0001819	synonymous_variant	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201843427G>A	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.2760G>A	1.37:g.201843427G>A							p.L920L	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN			21	2829	+			920					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Silent	SNP	ENST00000361565.4	37	c.2760G>A	CCDS1415.1																																																																																				0.522	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		15	450	0	0	0	1	0	15	450				
TSPYL6	388951	broad.mit.edu	37	2	54482977	54482977	+	Silent	SNP	C	C	T	rs114346583	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:54482977C>T	ENST00000317802.7	-	1	432	c.312G>A	c.(310-312)tcG>tcA	p.S104S	ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000303536.4_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	104					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						CAGTTGTCAGCGAGGCAGAGG	0.622																																						ENST00000317802.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						c.(310-312)tcG>tcA		TSPY-like 6							36.0	40.0	39.0					2																	54482977		2053	4183	6236	SO:0001819	synonymous_variant	388951				nucleosome assembly	nucleus		g.chr2:54482977C>T	AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.312G>A	2.37:g.54482977C>T						ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000303536.4_Intron	p.S104S	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN			1	432	-			104					Q6NUJ3	Silent	SNP	ENST00000317802.7	37	c.312G>A	CCDS42682.1																																																																																				0.622	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324069.3	XM_371494		10	230	0	0	0	1	0	10	230				
ARHGAP15	55843	broad.mit.edu	37	2	143986187	143986187	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:143986187C>T	ENST00000295095.6	+	5	501	c.334C>T	c.(334-336)Cga>Tga	p.R112*	ARHGAP15_ENST00000409869.1_Nonsense_Mutation_p.R112*	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	112	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)	p.R112R(1)		endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TCTTTCTAGTCGAAGAATTGA	0.303																																						ENST00000409869.1																			1	Substitution - coding silent(1)	p.R112R(1)	large_intestine(1)	endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(334-336)Cga>Tga		Rho GTPase activating protein 15							89.0	95.0	93.0					2																	143986187		2203	4298	6501	SO:0001587	stop_gained	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:143986187C>T	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.334C>T	2.37:g.143986187C>T	ENSP00000295095:p.Arg112*					ARHGAP15_ENST00000295095.6_Nonsense_Mutation_p.R112*	p.R112*			Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	6	511	+			112			PH.		Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Nonsense_Mutation	SNP	ENST00000295095.6	37	c.334C>T	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	C	37	6.232440	0.97399	.	.	ENSG00000075884	ENST00000409869;ENST00000295095	.	.	.	5.6	1.36	0.22044	.	0.778678	0.12196	N	0.490747	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	9.3393	0.38069	0.2847:0.4628:0.2525:0.0	.	.	.	.	X	112	.	ENSP00000295095:R112X	R	+	1	2	ARHGAP15	143702657	0.026000	0.19158	0.619000	0.29118	0.995000	0.86356	0.224000	0.17738	0.248000	0.21435	0.650000	0.86243	CGA		0.303	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		11	287	0	0	0	1	0	11	287				
NBPF9	400818	broad.mit.edu	37	1	144825409	144825409	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:144825409G>A	ENST00000440491.2	+	11	1361	c.1361G>A	c.(1360-1362)gGt>gAt	p.G454D	NBPF9_ENST00000281815.8_Intron|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Intron	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	712	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						GACTCACTGGGTAGATGGTAT	0.493																																						ENST00000440491.2																			0				NS(2)|prostate(1)	3						c.(1360-1362)gGt>gAt		neuroblastoma breakpoint family, member 9																																				SO:0001583	missense	400818							g.chr1:144825409G>A		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.1361G>A	1.37:g.144825409G>A	ENSP00000390934:p.Gly454Asp					NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Intron	p.G454D	NM_001037675.2	NP_001032764.1					11	1361	+									Missense_Mutation	SNP	ENST00000440491.2	37	c.1361G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0|0	-2.594425|-2.594425	0.00126|0.00126	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000440491|ENST00000375552	T|.	0.03124|.	4.04|.	1.03|1.03	-1.95|-1.95	0.07548|0.07548	.|.	.|.	.|.	.|.	.|.	T|T	0.11707|0.11707	0.0285|0.0285	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.32508|0.32508	-0.9904|-0.9904	6|4	0.02654|.	T|.	1|.	.|.	6.4945|6.4945	0.22133|0.22133	0.3592:0.0:0.6408:0.0|0.3592:0.0:0.6408:0.0	.|.	.|.	.|.	.|.	D|I	454|453	ENSP00000390934:G454D|.	ENSP00000390934:G454D|.	G|V	+|+	2|1	0|0	NBPF9|NBPF9	143536766|143536766	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	-0.176000|-0.176000	0.09811|0.09811	-1.412000|-1.412000	0.02030|0.02030	-1.220000|-1.220000	0.01600|0.01600	GGT|GTA		0.493	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675		6	775	0	0	0	1	0	6	775				
BCRP7	100133163	broad.mit.edu	37	22	18844766	18844766	+	3'UTR	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr22:18844766G>A	ENST00000412938.1	+	0	3016																											CAGCCTCTGAGGGCAGCAGTG	0.557																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844766G>A																												ENST00000412938.1:c.*3013G>A	22.37:g.18844766G>A														0	3016	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.557	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			6	28	0	0	0	1	0	6	28				
MATN3	4148	broad.mit.edu	37	2	20205753	20205753	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:20205753C>T	ENST00000407540.3	-	2	604	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	AC079145.4_ENST00000416575.1_RNA|MATN3_ENST00000421259.2_Missense_Mutation_p.R181Q	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	181	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGGGCTCTCGAGCCCCTGC	0.592																																						ENST00000407540.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13						c.(541-543)cGa>cAa		matrilin 3							41.0	44.0	43.0					2																	20205753		2020	4191	6211	SO:0001583	missense	4148				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr2:20205753C>T	AJ001047	CCDS46226.1	2p24-p23	2008-06-03			ENSG00000132031	ENSG00000132031			6909	protein-coding gene	gene with protein product		602109				9287130, 9350998	Standard	NM_002381		Approved	EDM5, HOA	uc002rdl.3	O15232	OTTHUMG00000151788	ENST00000407540.3:c.542G>A	2.37:g.20205753C>T	ENSP00000383894:p.Arg181Gln					MATN3_ENST00000421259.2_Missense_Mutation_p.R181Q	p.R181Q	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN			2	604	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		181			VWFA.		B2CPU0|Q4ZG02	Missense_Mutation	SNP	ENST00000407540.3	37	c.542G>A	CCDS46226.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766566	0.90020	.	.	ENSG00000132031	ENST00000407540;ENST00000421259	D;D	0.87966	-2.32;-2.32	5.69	5.69	0.88448	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.95133	0.8423	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95674	0.8726	10	0.87932	D	0	-14.4146	18.8036	0.92028	0.0:1.0:0.0:0.0	.	181;181	B2CPU0;O15232	.;MATN3_HUMAN	Q	181	ENSP00000383894:R181Q;ENSP00000398753:R181Q	ENSP00000383894:R181Q	R	-	2	0	MATN3	20069234	0.999000	0.42202	0.943000	0.38184	0.460000	0.32559	4.933000	0.63484	2.699000	0.92147	0.655000	0.94253	CGA		0.592	MATN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323925.1	NM_002381		5	150	0	0	0	1	0	5	150				
PYROXD2	84795	broad.mit.edu	37	10	100152219	100152219	+	Silent	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr10:100152219C>T	ENST00000370575.4	-	10	1080	c.1032G>A	c.(1030-1032)ccG>ccA	p.P344P	PYROXD2_ENST00000483923.1_5'UTR|MIR1287_ENST00000408492.1_RNA	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	344							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						AGGTGATCTGCGGTGATGTGT	0.537																																						ENST00000370575.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(1030-1032)ccG>ccA		pyridine nucleotide-disulphide oxidoreductase domain 2							231.0	162.0	186.0					10																	100152219		2203	4300	6503	SO:0001819	synonymous_variant	84795						oxidoreductase activity	g.chr10:100152219C>T	AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 33"""	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.1032G>A	10.37:g.100152219C>T						PYROXD2_ENST00000483923.1_5'UTR	p.P344P	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN			10	1080	-			344					D3DR61|Q5TAA9|Q9BRQ1	Silent	SNP	ENST00000370575.4	37	c.1032G>A	CCDS7474.1																																																																																				0.537	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	NM_032709		48	240	0	0	0	1	0	48	240				
OSBPL7	114881	broad.mit.edu	37	17	45891044	45891044	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr17:45891044G>A	ENST00000007414.3	-	15	1699	c.1508C>T	c.(1507-1509)cCg>cTg	p.P503L	OSBPL7_ENST00000392507.3_Missense_Mutation_p.P503L	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	503					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						AGTGTTGAGCGGCTCGTTGAG	0.637																																						ENST00000007414.3																			0				autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1507-1509)cCg>cTg		oxysterol binding protein-like 7							55.0	53.0	54.0					17																	45891044		2203	4299	6502	SO:0001583	missense	114881				lipid transport		lipid binding	g.chr17:45891044G>A	AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.1508C>T	17.37:g.45891044G>A	ENSP00000007414:p.Pro503Leu					OSBPL7_ENST00000392507.3_Missense_Mutation_p.P503L	p.P503L	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN			15	1699	-			503					D3DTT6|Q6PIV6	Missense_Mutation	SNP	ENST00000007414.3	37	c.1508C>T	CCDS11515.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733364	0.89482	.	.	ENSG00000006025	ENST00000007414;ENST00000392507	T;T	0.57436	0.4;0.4	5.16	4.16	0.48862	.	0.172031	0.52532	D	0.000075	T	0.81356	0.4805	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.87812	0.2632	10	0.87932	D	0	-29.9454	14.338	0.66606	0.0:0.15:0.85:0.0	.	503	Q9BZF2	OSBL7_HUMAN	L	503	ENSP00000007414:P503L;ENSP00000376295:P503L	ENSP00000007414:P503L	P	-	2	0	OSBPL7	43246043	1.000000	0.71417	0.964000	0.40570	0.980000	0.70556	9.670000	0.98625	1.114000	0.41781	0.591000	0.81541	CCG		0.637	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1	NM_017731		25	233	0	0	0	1	0	25	233				
DEFB126	81623	broad.mit.edu	37	20	126290	126290	+	Missense_Mutation	SNP	C	C	T	rs368122573		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr20:126290C>T	ENST00000382398.3	+	2	553	c.293C>T	c.(292-294)tCg>tTg	p.S98L	DEFB126_ENST00000542572.1_3'UTR	NM_030931.3	NP_112193.1	Q9BYW3	DB126_HUMAN	defensin, beta 126	98					defense response to bacterium (GO:0042742)	cell surface (GO:0009986)|extracellular region (GO:0005576)|glycocalyx (GO:0030112)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			ACTACTGCTTCGATGTCTTCG	0.458																																						ENST00000382398.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(292-294)tCg>tTg		defensin, beta 126		C	LEU/SER	0,4406		0,0,2203	134.0	127.0	130.0		293	-0.8	0.0	20		130	1,8599	1.2+/-3.3	0,1,4299	no	missense	DEFB126	NM_030931.2	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	98/112	126290	1,13005	2203	4300	6503	SO:0001583	missense	81623				defense response to bacterium	extracellular region		g.chr20:126290C>T		CCDS12990.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125788	ENSG00000125788		"""Defensins, beta"""	15900	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 8"""	C20orf8		11854508	Standard	NM_030931		Approved	bA530N10.1, DEFB-26	uc002wcx.3	Q9BYW3	OTTHUMG00000031616	ENST00000382398.3:c.293C>T	20.37:g.126290C>T	ENSP00000371835:p.Ser98Leu					DEFB126_ENST00000542572.1_3'UTR	p.S98L	NM_030931.2	NP_112193.1	Q9BYW3	DB126_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.122)		2	553	+		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	98					Q562G3|Q9H1M5	Missense_Mutation	SNP	ENST00000382398.3	37	c.293C>T	CCDS12990.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.615920	0.00828	0.0	1.16E-4	ENSG00000125788	ENST00000382398	T	0.37752	1.18	2.32	-0.759	0.11045	.	23.449500	0.00166	N	0.000000	T	0.17916	0.0430	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15665	-1.0429	10	0.27785	T	0.31	6.8902	6.9192	0.24378	0.0:0.7567:0.0:0.2433	.	98	Q9BYW3	DB126_HUMAN	L	98	ENSP00000371835:S98L	ENSP00000371835:S98L	S	+	2	0	DEFB126	74290	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.671000	0.01954	-0.119000	0.11830	-0.752000	0.03492	TCG		0.458	DEFB126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077428.2	NM_030931		43	801	0	0	0	1	0	43	801				
TPTE	7179	broad.mit.edu	37	21	10916473	10916473	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr21:10916473C>A	ENST00000361285.4	-	20	1502	c.1173G>T	c.(1171-1173)aaG>aaT	p.K391N	TPTE_ENST00000298232.7_Missense_Mutation_p.K373N|TPTE_ENST00000342420.5_Missense_Mutation_p.K353N|TPTE_ENST00000415664.2_Intron	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	391	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAACATATCTCTTCTGAAAAG	0.338																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(1117-1119)aaG>aaT		transmembrane phosphatase with tensin homology							106.0	99.0	101.0					21																	10916473		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10916473C>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1173G>T	21.37:g.10916473C>A	ENSP00000355208:p.Lys391Asn					TPTE_ENST00000361285.4_Missense_Mutation_p.K391N|TPTE_ENST00000342420.5_Missense_Mutation_p.K353N|TPTE_ENST00000415664.2_Intron	p.K373N	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	19	1486	-			391			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1119G>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.398316	0.00198	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98585	-5.01;-5.01;-5.01	1.79	1.79	0.24919	Phosphatase tensin type (1);	0.135724	0.64402	N	0.000003	D	0.89795	0.6818	N	0.02412	-0.56	0.19300	N	0.999971	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.82331	-0.0510	10	0.12766	T	0.61	-9.0395	4.8086	0.13331	0.6724:0.3276:0.0:0.0	.	353;373;391	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	N	373;391;353	ENSP00000298232:K373N;ENSP00000355208:K391N;ENSP00000344441:K353N	ENSP00000298232:K373N	K	-	3	2	TPTE	9938344	0.322000	0.24634	0.981000	0.43875	0.164000	0.22412	0.135000	0.15952	0.160000	0.19432	-1.447000	0.01057	AAG		0.338	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			5	281	1	0	0.184627	1	0.184627	5	281				
ROBO2	6092	broad.mit.edu	37	3	77614262	77614262	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr3:77614262C>T	ENST00000461745.1	+	12	2740	c.1840C>T	c.(1840-1842)Cgc>Tgc	p.R614C	ROBO2_ENST00000487694.3_Missense_Mutation_p.R630C|ROBO2_ENST00000332191.8_Missense_Mutation_p.R614C	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	614	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGATCCTGTGCGCACACAAGG	0.468																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(1840-1842)Cgc>Tgc		roundabout, axon guidance receptor, homolog 2 (Drosophila)							130.0	129.0	129.0					3																	77614262		1971	4157	6128	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77614262C>T	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1840C>T	3.37:g.77614262C>T	ENSP00000417164:p.Arg614Cys					ROBO2_ENST00000487694.3_Missense_Mutation_p.R630C|ROBO2_ENST00000332191.8_Missense_Mutation_p.R614C	p.R614C	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	12	2740	+			614					O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.1840C>T	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157547	0.78114	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	D;D;D	0.82893	-1.66;-1.66;-1.66	6.02	6.02	0.97574	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.46145	D	0.000320	D	0.91304	0.7258	M	0.71581	2.175	0.41715	D	0.989473	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.91054	0.4880	9	0.87932	D	0	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	630;614;614	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	C	630;630;634;614;614;335	ENSP00000417335:R630C;ENSP00000417164:R614C;ENSP00000327536:R614C	ENSP00000327536:R614C	R	+	1	0	ROBO2	77696952	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.140000	0.58031	2.857000	0.98124	0.650000	0.86243	CGC		0.468	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		6	372	0	0	0	1	0	6	372				
IL1RN	3557	broad.mit.edu	37	2	113888640	113888640	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:113888640C>T	ENST00000409930.3	+	3	288	c.224C>T	c.(223-225)cCc>cTc	p.P75L	IL1RN_ENST00000361779.3_Missense_Mutation_p.P41L|IL1RN_ENST00000354115.2_Missense_Mutation_p.P57L|IL1RN_ENST00000409052.1_Missense_Mutation_p.P41L|IL1RN_ENST00000259206.5_Missense_Mutation_p.P78L	NM_173842.2	NP_776214.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	75					acute-phase response (GO:0006953)|carboxylic acid metabolic process (GO:0019752)|chronic inflammatory response to antigenic stimulus (GO:0002439)|female pregnancy (GO:0007565)|fever generation (GO:0001660)|immune response (GO:0006955)|insulin secretion (GO:0030073)|lipid metabolic process (GO:0006629)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of membrane potential (GO:0045837)|positive regulation of JUN kinase activity (GO:0043507)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	interleukin-1 receptor antagonist activity (GO:0005152)|interleukin-1 receptor binding (GO:0005149)|interleukin-1 Type I receptor antagonist activity (GO:0045352)|interleukin-1 Type II receptor antagonist activity (GO:0045353)|interleukin-1, Type I receptor binding (GO:0005150)|interleukin-1, Type II receptor binding (GO:0005151)			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Rilonacept(DB06372)	GATGTGGTACCCATTGAGCCT	0.483									Lichen Sclerosis et Atrophicus, Familial Clustering of																													ENST00000361779.3																			0				breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10						c.(121-123)cCc>cTc		interleukin 1 receptor antagonist	Anakinra(DB00026)						130.0	114.0	120.0					2																	113888640		2203	4300	6503	SO:0001583	missense	3557	Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Lichen Sclerosis, Familial	immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113888640C>T	M55646	CCDS2113.1, CCDS2114.1, CCDS2115.1, CCDS46396.1	2q14.2	2014-09-17			ENSG00000136689	ENSG00000136689		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	6000	protein-coding gene	gene with protein product	"""interleukin-1 receptor antagonist protein"", ""intracellular interleukin-1 receptor antagonist"""	147679				1386337, 8432529	Standard	NM_000577		Approved	IL1RA, ICIL-1RA, IL1F3, IRAP, IL-1RN, MGC10430	uc002tjb.3	P18510	OTTHUMG00000131341	ENST00000409930.3:c.224C>T	2.37:g.113888640C>T	ENSP00000387173:p.Pro75Leu					IL1RN_ENST00000409930.3_Missense_Mutation_p.P75L|IL1RN_ENST00000409052.1_Missense_Mutation_p.P41L|IL1RN_ENST00000259206.5_Missense_Mutation_p.P78L|IL1RN_ENST00000354115.2_Missense_Mutation_p.P57L	p.P41L	NM_173843.2	NP_776215.1	P18510	IL1RA_HUMAN			5	467	+			75					A8K4G1|Q14628|Q53SC2|Q7RTZ4|Q96GD6|Q9UPC0	Missense_Mutation	SNP	ENST00000409930.3	37	c.122C>T	CCDS46396.1	.	.	.	.	.	.	.	.	.	.	C	2.483	-0.319312	0.05386	.	.	ENSG00000136689	ENST00000409052;ENST00000361779;ENST00000259206;ENST00000354115;ENST00000409930	T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35	5.26	3.25	0.37280	.	0.537042	0.21904	N	0.067402	T	0.28995	0.0720	M	0.86953	2.85	0.19775	N	0.999956	B;B;B	0.32396	0.012;0.318;0.369	B;B;B	0.42163	0.014;0.378;0.285	T	0.17992	-1.0351	10	0.33141	T	0.24	-28.0286	6.568	0.22523	0.1707:0.7287:0.0:0.1006	.	75;57;78	P18510;P18510-2;Q53SC2	IL1RA_HUMAN;.;.	L	41;41;78;57;75	ENSP00000387210:P41L;ENSP00000354816:P41L;ENSP00000259206:P78L;ENSP00000329072:P57L;ENSP00000387173:P75L	ENSP00000259206:P78L	P	+	2	0	IL1RN	113605111	0.000000	0.05858	0.175000	0.22980	0.111000	0.19643	0.206000	0.17375	0.465000	0.27167	-0.152000	0.13540	CCC		0.483	IL1RN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330802.1	NM_173841		51	235	0	0	0	1	0	51	235				
FSIP2	401024	broad.mit.edu	37	2	186672819	186672819	+	Silent	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:186672819G>A	ENST00000424728.1	+	17	18786	c.18786G>A	c.(18784-18786)aaG>aaA	p.K6262K	FSIP2_ENST00000343098.5_Silent_p.K6351K			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6262										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GTGTTTTAAAGCACTCTGGCT	0.338																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(19051-19053)aaG>aaA		fibrous sheath interacting protein 2							38.0	36.0	37.0					2																	186672819		1806	4054	5860	SO:0001819	synonymous_variant	401024							g.chr2:186672819G>A	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.18786G>A	2.37:g.186672819G>A						FSIP2_ENST00000424728.1_Silent_p.K6262K	p.K6351K	NM_173651.2	NP_775922.2					17	19053	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	ENST00000424728.1	37	c.19053G>A																																																																																					0.338	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		112	146	0	0	0	1	0	112	146				
IGHV3-43	28426	broad.mit.edu	37	14	106926482	106926482	+	RNA	SNP	T	T	C			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr14:106926482T>C	ENST00000434710.1	-	0	139									immunoglobulin heavy variable 3-43																		CCAGCTGCACTTCACACTGGA	0.527																																						ENST00000434710.1																			0																				176.0	114.0	134.0					14																	106926482		2031	4150	6181			0							g.chr14:106926482T>C	M99672		14q32.33	2012-02-08			ENSG00000232216	ENSG00000232216		"""Immunoglobulins / IGH locus"""	5604	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152094		14.37:g.106926482T>C														0	139	-									RNA	SNP	ENST00000434710.1	37																																																																																						0.527	IGHV3-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325191.1	NG_001019		7	701	0	0	0	1	0	7	701				
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493																																						ENST00000603901.1																			1	Substitution - coding silent(1)	p.P203P(1)	prostate(1)																																																0							g.chr7:142482229T>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482229T>A								NR_001296.3						0	609	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		5	201	0	0	0	1	0	5	201				
CCDC74B	91409	broad.mit.edu	37	2	130897154	130897154	+	Missense_Mutation	SNP	G	G	A	rs546767071		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:130897154G>A	ENST00000310463.6	-	8	1254	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W	MED15P9_ENST00000427638.1_RNA|CCDC74B_ENST00000409943.3_Missense_Mutation_p.R307W|CCDC74B_ENST00000392984.3_Missense_Mutation_p.R475W	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	373										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					TGCAGGCGCCGTTTCTGCATT	0.602													.|||	1	0.000199681	0.0	0.0014	5008	,	,		16310	0.0		0.0	False		,,,				2504	0.0					ENST00000392984.3																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(1423-1425)Cgg>Tgg		coiled-coil domain containing 74B							42.0	42.0	42.0					2																	130897154		2201	4300	6501	SO:0001583	missense	91409							g.chr2:130897154G>A		CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.1117C>T	2.37:g.130897154G>A	ENSP00000308873:p.Arg373Trp					CCDC74B_ENST00000409943.3_Missense_Mutation_p.R307W|CCDC74B_ENST00000310463.6_Missense_Mutation_p.R373W	p.R475W			Q96LY2	CC74B_HUMAN			7	2166	-	Colorectal(110;0.1)		373					Q6NW18	Missense_Mutation	SNP	ENST00000310463.6	37	c.1423C>T	CCDS2155.1	.	.	.	.	.	.	.	.	.	.	.	17.11	3.304727	0.60305	.	.	ENSG00000152076	ENST00000409943;ENST00000310463;ENST00000392984	T;T;T	0.39592	1.07;1.07;1.07	4.16	4.16	0.48862	.	.	.	.	.	T	0.59998	0.2235	M	0.62723	1.935	0.41784	D	0.989835	D;D;D	0.89917	1.0;1.0;1.0	D;P;P	0.70227	0.968;0.832;0.88	T	0.64698	-0.6346	9	0.72032	D	0.01	.	14.3259	0.66521	0.0:0.0:1.0:0.0	.	475;307;373	E7ESC5;Q96LY2-2;Q96LY2	.;.;CC74B_HUMAN	W	307;373;475	ENSP00000386294:R307W;ENSP00000308873:R373W;ENSP00000376710:R475W	ENSP00000308873:R373W	R	-	1	2	CCDC74B	130613624	0.526000	0.26298	1.000000	0.80357	0.170000	0.22686	0.675000	0.25232	2.316000	0.78162	0.455000	0.32223	CGG		0.602	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254522.3	NM_207310		5	122	0	0	0	1	0	5	122				
UBBP4	23666	broad.mit.edu	37	17	21730847	21730847	+	Missense_Mutation	SNP	G	G	T	rs570609187	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr17:21730847G>T	ENST00000578713.1	+	1	153	c.149G>T	c.(148-150)cGg>cTg	p.R50L	UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000584755.1_Missense_Mutation_p.R50L					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGCAAGCAGCGGGAAGATGGC	0.522													.|||	3	0.000599042	0.0008	0.0	5008	,	,		21142	0.002		0.0	False		,,,				2504	0.0					ENST00000584755.1																			0				endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(148-150)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730847G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.149G>T	17.37:g.21730847G>T	ENSP00000464265:p.Arg50Leu					UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L|UBBP4_ENST00000584398.1_Intron	p.R50L							2	546	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.149G>T																																																																																					0.522	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			4	164	1	0	0.014758	1	0.014918	4	164				
LILRP2	79166	broad.mit.edu	37	19	55221559	55221559	+	RNA	SNP	G	G	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:55221559G>T	ENST00000413439.1	+	0	1339									leukocyte immunoglobulin-like receptor pseudogene 2																		ACGGGGGCCAGTACAGATGCT	0.672																																					Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			0							g.chr19:55221559G>T	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55221559G>T														0	1339	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.672	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		6	187	1	0	1.49906e-05	1	1.56187e-05	6	187				
RPL32P3	132241	broad.mit.edu	37	3	129116038	129116038	+	RNA	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr3:129116038C>T	ENST00000514355.1	-	0	412				SNORA7B_ENST00000384360.1_RNA					ribosomal protein L32 pseudogene 3											lung(1)	1						GAGGCTTTCCCGCCCAGGGAC	0.567																																						ENST00000514355.1																			0				lung(1)	1															146.0	143.0	144.0					3																	129116038		876	1991	2867			0							g.chr3:129116038C>T	AK096589, AL117606		3q21.3	2014-03-20			ENSG00000251474	ENSG00000251474			27024	pseudogene	pseudogene						12477932	Standard	NR_003111		Approved		uc003ema.4		OTTHUMG00000159465		3.37:g.129116038C>T														0	412	-									RNA	SNP	ENST00000514355.1	37																																																																																						0.567	RPL32P3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000355880.1			8	382	0	0	0	1	0	8	382				
SPG7	6687	broad.mit.edu	37	16	89579447	89579447	+	Splice_Site	SNP	T	T	C			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr16:89579447T>C	ENST00000268704.2	+	3	391		c.e3+2		SPG7_ENST00000341316.2_Splice_Site	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)						anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		AGGACGAAGGTATATTCATCT	0.423																																						ENST00000268704.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20						c.e3+2		spastic paraplegia 7 (pure and complicated autosomal recessive)							109.0	98.0	102.0					16																	89579447		2197	4298	6495	SO:0001630	splice_region_variant	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89579447T>C	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.376+2T>C	16.37:g.89579447T>C						SPG7_ENST00000341316.2_Splice_Site		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	3	391	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)						O75756|Q2TB70|Q58F00|Q96IB0	Splice_Site	SNP	ENST00000268704.2	37		CCDS10977.1	.	.	.	.	.	.	.	.	.	.	T	8.570	0.879929	0.17467	.	.	ENSG00000197912	ENST00000268704;ENST00000341316	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5497	0.45081	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPG7	88106948	1.000000	0.71417	0.892000	0.35008	0.010000	0.07245	3.395000	0.52558	1.805000	0.52779	0.482000	0.46254	.		0.423	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119	Intron	30	3	0	0	0	1	0	30	3				
TTN	7273	broad.mit.edu	37	2	179413171	179413171	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:179413171C>T	ENST00000591111.1	-	289	88483	c.88259G>A	c.(88258-88260)cGt>cAt	p.R29420H	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22121H|TTN_ENST00000460472.2_Missense_Mutation_p.R21996H|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R28493H|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R31061H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R22188H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29420	Fibronectin type-III 114. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCCAACTACGGCGACTTGC	0.498																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(93181-93183)cGt>cAt		titin							192.0	191.0	191.0					2																	179413171		2000	4160	6160	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179413171C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.88259G>A	2.37:g.179413171C>T	ENSP00000465570:p.Arg29420His					TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22121H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R22188H|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R29420H|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R28493H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R21996H|TTN-AS1_ENST00000592600.1_RNA	p.R31061H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		339	93406	-			29420			Ig-like 139.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.93182G>A		.	.	.	.	.	.	.	.	.	.	C	17.62	3.433719	0.62955	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.65	5.65	0.86999	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72630	0.3484	M	0.73319	2.225	0.53688	D	0.999974	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.67231	0.95;0.95;0.95;0.95	T	0.74768	-0.3553	9	0.87932	D	0	.	19.7272	0.96168	0.0:1.0:0.0:0.0	.	21996;22121;22188;29420	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	28493;21996;22188;22121;21993	ENSP00000343764:R28493H;ENSP00000434586:R21996H;ENSP00000340554:R22188H;ENSP00000352154:R22121H	ENSP00000340554:R22188H	R	-	2	0	TTN	179121417	0.999000	0.42202	1.000000	0.80357	0.970000	0.65996	4.102000	0.57776	2.646000	0.89796	0.655000	0.94253	CGT		0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		23	824	0	0	0	1	0	23	824				
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	lincRNA	SNP	T	T	C			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562																																						ENST00000565869.1																			0																																																			0							g.chr15:78211548T>C																													15.37:g.78211548T>C						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			6	481	0	0	0	1	0	6	481				
MCM6	4175	broad.mit.edu	37	2	136605704	136605704	+	Missense_Mutation	SNP	G	G	A	rs142938887		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:136605704G>A	ENST00000264156.2	-	14	2032	c.1972C>T	c.(1972-1974)Cgt>Tgt	p.R658C	MCM6_ENST00000492091.1_5'UTR	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	658					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		GTTTCCACACGGATGATTGAT	0.393																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.(1972-1974)Cgt>Tgt		minichromosome maintenance complex component 6	Atorvastatin(DB01076)	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	171.0	140.0	151.0		1972	4.6	1.0	2	dbSNP_134	151	0,8600	1.2+/-3.3	0,0,4300	no	missense	MCM6	NM_005915.4	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	658/822	136605704	1,13005	2203	4300	6503	SO:0001583	missense	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136605704G>A		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.1972C>T	2.37:g.136605704G>A	ENSP00000264156:p.Arg658Cys					MCM6_ENST00000492091.1_5'UTR	p.R658C	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	14	2032	-			658					B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.1972C>T	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833342	0.71258	2.27E-4	0.0	ENSG00000076003	ENST00000264156	T	0.14022	2.54	5.56	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.41396	0.1157	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.42816	-0.9429	10	0.66056	D	0.02	-10.875	15.4358	0.75146	0.0:0.0:0.7912:0.2087	.	658	Q14566	MCM6_HUMAN	C	658	ENSP00000264156:R658C	ENSP00000264156:R658C	R	-	1	0	MCM6	136322174	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.030000	0.41108	2.604000	0.88044	0.585000	0.79938	CGT		0.393	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		165	151	0	0	0	1	0	165	151				
RRM1	6240	broad.mit.edu	37	11	4142834	4142834	+	Splice_Site	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr11:4142834C>T	ENST00000300738.5	+	10	1081	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C	RRM1_ENST00000528470.1_3'UTR|RRM1_ENST00000537197.1_5'UTR|RRM1_ENST00000534285.1_Splice_Site_p.R71C|RRM1_ENST00000423050.2_Splice_Site_p.R196C	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	293					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	TTACCACTAGCGTCCTGGGGC	0.373																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)	ENST00000300738.5																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14						c.e10-1		ribonucleotide reductase M1	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)						77.0	78.0	78.0					11																	4142834		2201	4298	6499	SO:0001630	splice_region_variant	6240				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity	g.chr11:4142834C>T	X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"""ribonucleotide reductase M1 polypeptide"""			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.877-1C>T	11.37:g.4142834C>T						RRM1_ENST00000528470.1_3'UTR|RRM1_ENST00000534285.1_Splice_Site_p.R71_splice|RRM1_ENST00000537197.1_5'UTR|RRM1_ENST00000423050.2_Splice_Site_p.R196_splice	p.R293_splice	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	10	1081	+		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)	293					Q9UNN2	Splice_Site	SNP	ENST00000300738.5	37	c.876_splice	CCDS7750.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191792	0.78902	.	.	ENSG00000167325	ENST00000300738;ENST00000423050;ENST00000536894;ENST00000534285;ENST00000543838	T;T;T	0.75821	-0.97;-0.97;-0.97	5.4	5.4	0.78164	Ribonucleoside-diphosphate reductase, alpha subunit (1);Ribonucleotide reductase large subunit, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92599	0.7649	H	0.99922	4.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94750	0.7926	10	0.87932	D	0	-7.231	11.9212	0.52793	0.2763:0.7237:0.0:0.0	.	293	P23921	RIR1_HUMAN	C	293;196;206;71;71	ENSP00000300738:R293C;ENSP00000390539:R196C;ENSP00000431464:R71C	ENSP00000300738:R293C	R	+	1	0	RRM1	4099410	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.098000	0.57748	2.509000	0.84616	0.650000	0.86243	CGT		0.373	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033	Missense_Mutation	19	210	0	0	0	1	0	19	210				
EP400	57634	broad.mit.edu	37	12	132516562	132516562	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr12:132516562G>A	ENST00000333577.4	+	31	6036	c.5927G>A	c.(5926-5928)cGt>cAt	p.R1976H	EP400_ENST00000389562.2_Missense_Mutation_p.R1939H|SNORA49_ENST00000386157.1_RNA|EP400_ENST00000330386.6_Missense_Mutation_p.R1859H|EP400_ENST00000332482.4_Missense_Mutation_p.R1903H|EP400_ENST00000389561.2_Missense_Mutation_p.R1940H			Q96L91	EP400_HUMAN	E1A binding protein p400	1976	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ACTCACAGCCGTACCACAGGT	0.463																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(5926-5928)cGt>cAt		E1A binding protein p400							149.0	149.0	149.0					12																	132516562		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132516562G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.5927G>A	12.37:g.132516562G>A	ENSP00000333602:p.Arg1976His					EP400_ENST00000330386.6_Missense_Mutation_p.R1859H|EP400_ENST00000389562.2_Missense_Mutation_p.R1939H|EP400_ENST00000332482.4_Missense_Mutation_p.R1903H|EP400_ENST00000389561.2_Missense_Mutation_p.R1940H	p.R1976H			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	31	6036	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1976			Helicase C-terminal.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.5927G>A		.	.	.	.	.	.	.	.	.	.	G	14.64	2.594519	0.46214	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	T;T;T;T;T	0.75260	-0.9;-0.9;-0.9;-0.9;-0.92	5.9	5.9	0.94986	.	0.098049	0.64402	D	0.000001	T	0.70298	0.3208	N	0.03608	-0.345	0.42479	D	0.992855	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.65010	0.931;0.878;0.931	T	0.77736	-0.2476	10	0.56958	D	0.05	.	15.7199	0.77700	0.0:0.1359:0.8641:0.0	.	1940;1859;1939	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	H	1976;1940;1939;1903;1859;1940	ENSP00000333602:R1976H;ENSP00000374212:R1940H;ENSP00000374213:R1939H;ENSP00000331737:R1903H;ENSP00000330620:R1859H	ENSP00000330620:R1859H	R	+	2	0	EP400	131082515	1.000000	0.71417	0.968000	0.41197	0.560000	0.35617	8.061000	0.89467	2.793000	0.96121	0.563000	0.77884	CGT		0.463	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		7	874	0	0	0	1	0	7	874				
KCNH5	27133	broad.mit.edu	37	14	63447722	63447722	+	Silent	SNP	G	G	A	rs376391048		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr14:63447722G>A	ENST00000322893.7	-	6	1078	c.810C>T	c.(808-810)ttC>ttT	p.F270F	KCNH5_ENST00000394964.2_Silent_p.F212F|KCNH5_ENST00000394968.1_Silent_p.F212F|KCNH5_ENST00000420622.2_Silent_p.F270F	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	270					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CGGGCCCCACGAAAGTCGTGT	0.433																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(808-810)ttC>ttT		potassium voltage-gated channel, subfamily H (eag-related), member 5							61.0	63.0	62.0					14																	63447722		2203	4300	6503	SO:0001819	synonymous_variant	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63447722G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.810C>T	14.37:g.63447722G>A						KCNH5_ENST00000394968.1_Silent_p.F212F|KCNH5_ENST00000394964.2_Silent_p.F212F|KCNH5_ENST00000420622.2_Silent_p.F270F	p.F270F	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	6	1078	-			270					C9JP98	Silent	SNP	ENST00000322893.7	37	c.810C>T	CCDS9756.1																																																																																				0.433	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		9	287	0	0	0	1	0	9	287				
LPHN2	23266	broad.mit.edu	37	1	82408791	82408791	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:82408791G>A	ENST00000370728.1	+	8	1181	c.536G>A	c.(535-537)cGt>cAt	p.R179H	LPHN2_ENST00000370725.1_Missense_Mutation_p.R179H|LPHN2_ENST00000319517.6_Missense_Mutation_p.R179H|LPHN2_ENST00000370715.1_Missense_Mutation_p.R179H|LPHN2_ENST00000271029.4_Missense_Mutation_p.R179H|LPHN2_ENST00000370717.2_Missense_Mutation_p.R179H|LPHN2_ENST00000335786.5_Missense_Mutation_p.R179H|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.R179H|LPHN2_ENST00000370727.1_Missense_Mutation_p.R179H|LPHN2_ENST00000370723.1_Missense_Mutation_p.R179H|LPHN2_ENST00000370721.1_Missense_Mutation_p.R183H|LPHN2_ENST00000370730.1_Missense_Mutation_p.R179H|LPHN2_ENST00000359929.3_Missense_Mutation_p.R179H|LPHN2_ENST00000370713.1_Missense_Mutation_p.R179H			O95490	LPHN2_HUMAN	latrophilin 2	179	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ACTCCCTATCGTACCGATACT	0.393																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(535-537)cGt>cAt		latrophilin 2							74.0	79.0	77.0					1																	82408791		2202	4297	6499	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82408791G>A	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.536G>A	1.37:g.82408791G>A	ENSP00000359763:p.Arg179His					LPHN2_ENST00000319517.6_Missense_Mutation_p.R179H|LPHN2_ENST00000370721.1_Missense_Mutation_p.R183H|LPHN2_ENST00000370717.2_Missense_Mutation_p.R179H|LPHN2_ENST00000370715.1_Missense_Mutation_p.R179H|LPHN2_ENST00000370730.1_Missense_Mutation_p.R179H|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.R179H|LPHN2_ENST00000370713.1_Missense_Mutation_p.R179H|LPHN2_ENST00000370727.1_Missense_Mutation_p.R179H|LPHN2_ENST00000335786.5_Missense_Mutation_p.R179H|LPHN2_ENST00000394879.1_Missense_Mutation_p.R179H|LPHN2_ENST00000359929.3_Missense_Mutation_p.R179H|LPHN2_ENST00000370723.1_Missense_Mutation_p.R179H|LPHN2_ENST00000271029.4_Missense_Mutation_p.R179H	p.R179H			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	8	1181	+			179			Olfactomedin-like.		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.536G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.46|19.46	3.831352|3.831352	0.71258|0.71258	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.89196|.	-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48|.	5.9|5.9	4.98|4.98	0.66077|0.66077	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72534|0.72534	0.3472|0.3472	M|M	0.82517|0.82517	2.595|2.595	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.79784|.	0.993;0.991;0.993|.	T|T	0.76402|0.76402	-0.2972|-0.2972	10|5	0.87932|.	D|.	0|.	.|.	17.2124|17.2124	0.86934|0.86934	0.0:0.1258:0.8742:0.0|0.0:0.1258:0.8742:0.0	.|.	179;179;179|.	O95490-3;O95490-4;O95490-2|.	.;.;.|.	H|I	183;179;179;179;179;179;179;179;179;179;179;179;179;179|47	ENSP00000359756:R183H;ENSP00000359763:R179H;ENSP00000359765:R179H;ENSP00000359762:R179H;ENSP00000359760:R179H;ENSP00000359758:R179H;ENSP00000353006:R179H;ENSP00000359750:R179H;ENSP00000359748:R179H;ENSP00000322270:R179H;ENSP00000359752:R179H;ENSP00000378344:R179H;ENSP00000271029:R179H;ENSP00000337306:R179H|.	ENSP00000271029:R179H|.	R|V	+|+	2|1	0|0	LPHN2|LPHN2	82181379|82181379	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.991000|0.991000	0.79684|0.79684	9.869000|9.869000	0.99810|0.99810	1.485000|1.485000	0.48380|0.48380	0.650000|0.650000	0.86243|0.86243	CGT|GTA		0.393	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		69	219	0	0	0	1	0	69	219				
DNAH5	1767	broad.mit.edu	37	5	13700762	13700762	+	Silent	SNP	A	A	G			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:13700762A>G	ENST00000265104.4	-	78	13814	c.13710T>C	c.(13708-13710)taT>taC	p.Y4570Y		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4570					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)					TGTTTTCTGCATAAATCCTTA	0.378									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.(13708-13710)taT>taC		dynein, axonemal, heavy chain 5							157.0	152.0	154.0					5																	13700762		2203	4300	6503	SO:0001819	synonymous_variant	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.chr5:13700762A>G	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.13710T>C	5.37:g.13700762A>G							p.Y4570Y	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			78	13814	-	Lung NSC(4;0.00476)		4570					Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.13710T>C	CCDS3882.1																																																																																				0.378	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		6	594	0	0	0	1	0	6	594				
DZIP3	9666	broad.mit.edu	37	3	108394663	108394663	+	Silent	SNP	G	G	A	rs191237968	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr3:108394663G>A	ENST00000361582.3	+	25	2954	c.2724G>A	c.(2722-2724)gcG>gcA	p.A908A	DZIP3_ENST00000463306.1_Silent_p.A908A	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	908					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TAAAGGCTGCGGTAGACAGTT	0.363													G|||	2	0.000399361	0.0	0.0014	5008	,	,		15834	0.0		0.001	False		,,,				2504	0.0					ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(2722-2724)gcG>gcA		DAZ interacting zinc finger protein 3							89.0	83.0	85.0					3																	108394663		2203	4300	6503	SO:0001819	synonymous_variant	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108394663G>A	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2724G>A	3.37:g.108394663G>A						DZIP3_ENST00000463306.1_Silent_p.A908A	p.A908A	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			25	2954	+			908					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Silent	SNP	ENST00000361582.3	37	c.2724G>A	CCDS2952.1																																																																																				0.363	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		4	203	0	0	0	1	0	4	203				
TENM2	57451	broad.mit.edu	37	5	167625947	167625947	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:167625947C>T	ENST00000518659.1	+	16	3029	c.2990C>T	c.(2989-2991)cCg>cTg	p.P997L	TENM2_ENST00000545108.1_Missense_Mutation_p.P997L|TENM2_ENST00000403607.2_Missense_Mutation_p.P821L|TENM2_ENST00000519204.1_Missense_Mutation_p.P876L|TENM2_ENST00000520394.1_Missense_Mutation_p.P765L	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	997					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GTGTGGCTGCCGTGGAACAGC	0.572																																						ENST00000519204.1																			0											c.(2626-2628)cCg>cTg		teneurin transmembrane protein 2							74.0	80.0	78.0					5																	167625947		2100	4222	6322	SO:0001583	missense	57451							g.chr5:167625947C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.2990C>T	5.37:g.167625947C>T	ENSP00000429430:p.Pro997Leu					TENM2_ENST00000545108.1_Missense_Mutation_p.P997L|TENM2_ENST00000403607.2_Missense_Mutation_p.P821L|TENM2_ENST00000518659.1_Missense_Mutation_p.P997L|TENM2_ENST00000520394.1_Missense_Mutation_p.P765L	p.P876L							15	2745	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.2627C>T		.	.	.	.	.	.	.	.	.	.	C	25.5	4.640948	0.87859	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5	5.52	5.52	0.82312	Carboxypeptidase-like, regulatory domain (1);	0.000000	0.85682	D	0.000000	T	0.46328	0.1387	M	0.86740	2.835	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;P;D	0.83275	0.935;0.862;0.996	T	0.52697	-0.8541	10	0.87932	D	0	.	19.4325	0.94776	0.0:1.0:0.0:0.0	.	997;997;765	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	L	997;997;876;765;821	ENSP00000429430:P997L;ENSP00000438635:P997L;ENSP00000428964:P876L;ENSP00000427874:P765L;ENSP00000384905:P821L	ENSP00000384905:P821L	P	+	2	0	ODZ2	167558525	1.000000	0.71417	0.957000	0.39632	0.935000	0.57460	7.811000	0.86092	2.593000	0.87608	0.563000	0.77884	CCG		0.572	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		9	286	0	0	0	1	0	9	286				
KRTAP9-9	81870	broad.mit.edu	37	17	39411940	39411940	+	Silent	SNP	C	C	T	rs368809647		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr17:39411940C>T	ENST00000394008.1	+	1	305	c.303C>T	c.(301-303)ggC>ggT	p.G101G		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	86	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCAGCTGTGGCCAGAGCAGCT	0.617																																						ENST00000394008.1																			0				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(301-303)ggC>ggT		keratin associated protein 9-9							78.0	83.0	81.0					17																	39411940		2203	4297	6500	SO:0001819	synonymous_variant	81870					keratin filament		g.chr17:39411940C>T	AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"""Keratin associated proteins"""	16773	protein-coding gene	gene with protein product			"""keratin associated protein 9-5"""	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.303C>T	17.37:g.39411940C>T							p.G101G	NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	305	+		Breast(137;0.000496)	101					B5MDD6|Q9BYQ1	Silent	SNP	ENST00000394008.1	37	c.303C>T	CCDS54127.1																																																																																				0.617	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257710.1	NM_030975		6	400	0	0	0	1	0	6	400				
GRB10	2887	broad.mit.edu	37	7	50672033	50672033	+	Silent	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:50672033G>A	ENST00000401949.1	-	16	1900	c.1431C>T	c.(1429-1431)ccC>ccT	p.P477P	GRB10_ENST00000402578.1_Silent_p.P419P|GRB10_ENST00000407526.1_Silent_p.P419P|GRB10_ENST00000357271.5_Silent_p.P431P|GRB10_ENST00000439599.1_Silent_p.P471P|GRB10_ENST00000403097.1_Silent_p.P471P|GRB10_ENST00000398812.2_Silent_p.P477P|GRB10_ENST00000402497.1_Silent_p.P419P|GRB10_ENST00000335866.3_Silent_p.P419P|GRB10_ENST00000398810.2_Silent_p.P419P|GRB10_ENST00000406641.1_Silent_p.P419P			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	477					insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					AAGGGTGGAGGGGACTTTGGC	0.502									Russell-Silver syndrome																													ENST00000403097.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41						c.(1411-1413)ccC>ccT		growth factor receptor-bound protein 10							152.0	155.0	154.0					7																	50672033		2029	4177	6206	SO:0001819	synonymous_variant	2887	Russell-Silver syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50672033G>A		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.1431C>T	7.37:g.50672033G>A						GRB10_ENST00000398810.2_Silent_p.P419P|GRB10_ENST00000398812.2_Silent_p.P477P|GRB10_ENST00000402578.1_Silent_p.P419P|GRB10_ENST00000407526.1_Silent_p.P419P|GRB10_ENST00000335866.3_Silent_p.P419P|GRB10_ENST00000401949.1_Silent_p.P477P|GRB10_ENST00000439599.1_Silent_p.P471P|GRB10_ENST00000402497.1_Silent_p.P419P|GRB10_ENST00000406641.1_Silent_p.P419P|GRB10_ENST00000357271.5_Silent_p.P431P	p.P471P			Q13322	GRB10_HUMAN			15	2193	-	Glioma(55;0.08)|all_neural(89;0.245)		477					A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Silent	SNP	ENST00000401949.1	37	c.1413C>T	CCDS43582.1																																																																																				0.502	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			12	789	0	0	0	1	0	12	789				
MAPT	4137	broad.mit.edu	37	17	44060806	44060806	+	Silent	SNP	G	G	A	rs545400674	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr17:44060806G>A	ENST00000571987.1	+	5	636	c.636G>A	c.(634-636)ccG>ccA	p.P212P	MAPT_ENST00000446361.3_Intron|MAPT_ENST00000262410.5_Silent_p.P212P|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000344290.5_Silent_p.P212P|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000415613.2_Silent_p.P212P|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000574436.1_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	212					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	AAGAGAGGCCGGGGAGCAAGG	0.692													G|||	2	0.000399361	0.0	0.0	5008	,	,		15558	0.0		0.0	False		,,,				2504	0.002					ENST00000344290.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(634-636)ccG>ccA		microtubule-associated protein tau							31.0	21.0	25.0					17																	44060806		2195	4296	6491	SO:0001819	synonymous_variant	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44060806G>A	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.636G>A	17.37:g.44060806G>A						MAPT_ENST00000340799.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Silent_p.P212P|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000415613.2_Silent_p.P212P|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000571987.1_Silent_p.P212P|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000347967.5_Intron	p.P212P	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN			6	958	+		Melanoma(429;0.216)	212					P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Silent	SNP	ENST00000571987.1	37	c.636G>A	CCDS11501.1																																																																																				0.692	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		5	75	0	0	0	1	0	5	75				
RNF20	56254	broad.mit.edu	37	9	104312897	104312897	+	Missense_Mutation	SNP	C	C	T	rs372304320		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:104312897C>T	ENST00000389120.3	+	10	1192	c.1102C>T	c.(1102-1104)Cgg>Tgg	p.R368W	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	368					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R368W(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		GGTGGAATTGCGGAGTGCAGT	0.468																																						ENST00000389120.3																			1	Substitution - Missense(1)	p.R368W(1)	kidney(1)	breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1102-1104)Cgg>Tgg		ring finger protein 20, E3 ubiquitin protein ligase		C	TRP/ARG	0,4406		0,0,2203	157.0	152.0	154.0		1102	5.0	1.0	9		154	1,8599	1.2+/-3.3	0,1,4299	no	missense	RNF20	NM_019592.5	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	368/976	104312897	1,13005	2203	4300	6503	SO:0001583	missense	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104312897C>T	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1102C>T	9.37:g.104312897C>T	ENSP00000373772:p.Arg368Trp						p.R368W	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	10	1192	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	368					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.1102C>T	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.216353	0.58452	0.0	1.16E-4	ENSG00000155827	ENST00000389120	T	0.33865	1.39	5.92	4.99	0.66335	.	0.250465	0.41001	D	0.000966	T	0.31796	0.0808	L	0.49126	1.545	0.40626	D	0.981816	D	0.63880	0.993	B	0.41135	0.348	T	0.21552	-1.0242	10	0.87932	D	0	-17.2616	10.4537	0.44537	0.256:0.6176:0.1264:0.0	.	368	Q5VTR2	BRE1A_HUMAN	W	368	ENSP00000373772:R368W	ENSP00000373772:R368W	R	+	1	2	RNF20	103352718	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.192000	0.32150	2.810000	0.96702	0.650000	0.86243	CGG		0.468	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		7	829	0	0	0	1	0	7	829				
SYMPK	8189	broad.mit.edu	37	19	46345734	46345734	+	Silent	SNP	C	C	T	rs150307195	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:46345734C>T	ENST00000245934.7	-	9	1105	c.861G>A	c.(859-861)ccG>ccA	p.P287P		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	287					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TGGCCAGCGTCGGGGGCAGGT	0.557													C|||	3	0.000599042	0.0	0.0	5008	,	,		17726	0.0		0.003	False		,,,				2504	0.0					ENST00000245934.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(859-861)ccG>ccA		symplekin		C		1,4405	2.1+/-5.4	0,1,2202	62.0	62.0	62.0		861	-12.3	0.1	19	dbSNP_134	62	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	SYMPK	NM_004819.2		0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384		287/1275	46345734	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46345734C>T	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.861G>A	19.37:g.46345734C>T							p.P287P	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	9	1105	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	287					O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	ENST00000245934.7	37	c.861G>A	CCDS12676.2																																																																																				0.557	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		6	263	0	0	0	1	0	6	263				
PDE7A	5150	broad.mit.edu	37	8	66701121	66701121	+	Intron	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr8:66701121G>A	ENST00000401827.3	-	2	582				PDE7A_ENST00000396642.3_Intron|PDE7A_ENST00000379419.4_Missense_Mutation_p.S19F	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A						cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	GCCTACCTTAGAGGTGATCCA	0.393																																						ENST00000379419.4																			0				large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10						c.(55-57)tCt>tTt		phosphodiesterase 7A	Dyphylline(DB00651)|Ketotifen(DB00920)						116.0	105.0	109.0					8																	66701121		2203	4300	6503	SO:0001627	intron_variant	5150					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr8:66701121G>A	L12052	CCDS34901.1, CCDS56538.1	8q13	2008-03-18				ENSG00000205268	3.1.4.17	"""Phosphodiesterases"""	8791	protein-coding gene	gene with protein product		171885				8389765, 9521885	Standard	NM_001242318		Approved	HCP1	uc003xvq.3	Q13946		ENST00000401827.3:c.139-6043C>T	8.37:g.66701121G>A						PDE7A_ENST00000396642.3_Intron|PDE7A_ENST00000401827.3_Intron	p.S19F	NM_002603.3	NP_002594.1	Q13946	PDE7A_HUMAN	Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		1	198	-			45					A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Missense_Mutation	SNP	ENST00000401827.3	37	c.56C>T	CCDS56538.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345351	0.82022	.	.	ENSG00000205268	ENST00000379419;ENST00000523253	T;T	0.69561	-0.41;0.79	5.75	5.75	0.90469	.	0.308493	0.36409	N	0.002612	D	0.82751	0.5105	.	.	.	0.80722	D	1	D	0.64830	0.994	D	0.74348	0.983	T	0.82790	-0.0283	9	0.56958	D	0.05	.	19.2998	0.94140	0.0:0.0:1.0:0.0	.	19	Q13946-2	.	F	19	ENSP00000368730:S19F;ENSP00000430262:S19F	ENSP00000368730:S19F	S	-	2	0	PDE7A	66863675	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.831000	0.55776	2.866000	0.98385	0.650000	0.86243	TCT		0.393	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378905.1			10	438	0	0	0	1	0	10	438				
OR2A4	79541	broad.mit.edu	37	6	132022505	132022505	+	Silent	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr6:132022505G>A	ENST00000315453.2	-	1	130	c.37C>T	c.(37-39)Cta>Tta	p.L13L	ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron	NM_030908.1	NP_112170.1	O95047	OR2A4_HUMAN	olfactory receptor, family 2, subfamily A, member 4	13					positive regulation of cytokinesis (GO:0032467)|regulation of actin cytoskeleton organization (GO:0032956)	cleavage furrow (GO:0032154)|Flemming body (GO:0090543)|integral component of membrane (GO:0016021)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|ovary(1)|skin(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041)		AATCCCAGTAGGAGGAACTCT	0.468																																						ENST00000315453.2																			0				large_intestine(1)|ovary(1)|skin(1)	3						c.(37-39)Cta>Tta		olfactory receptor, family 2, subfamily A, member 4							52.0	56.0	55.0					6																	132022505		2203	4297	6500	SO:0001819	synonymous_variant	79541				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:132022505G>A	AC005587	CCDS5149.1	6q23	2012-08-09	2003-05-22		ENSG00000180658	ENSG00000180658		"""GPCR / Class A : Olfactory receptors"""	14729	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 10"""	OR2A10			Standard	NM_030908		Approved		uc011ecd.2	O95047	OTTHUMG00000016316	ENST00000315453.2:c.37C>T	6.37:g.132022505G>A						ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000357639.3_Intron	p.L13L	NM_030908.1	NP_112170.1	O95047	OR2A4_HUMAN		GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041)	1	130	-	Breast(56;0.0753)		13					Q0VAR3|Q6IF18|Q9NQN0	Silent	SNP	ENST00000315453.2	37	c.37C>T	CCDS5149.1																																																																																				0.468	OR2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109221.1	NM_030908		16	264	0	0	0	1	0	16	264				
CCNT1	904	broad.mit.edu	37	12	49087818	49087818	+	Silent	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr12:49087818G>A	ENST00000261900.3	-	9	1401	c.1179C>T	c.(1177-1179)cgC>cgT	p.R393R		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	393					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						CATGCTTCGCGCGGTATTCTT	0.443																																						ENST00000261900.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						c.(1177-1179)cgC>cgT		cyclin T1							230.0	236.0	234.0					12																	49087818		2203	4300	6503	SO:0001819	synonymous_variant	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49087818G>A	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1179C>T	12.37:g.49087818G>A							p.R393R	NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN			9	1401	-			393					A9XU13|E7EX76|O60581	Silent	SNP	ENST00000261900.3	37	c.1179C>T	CCDS8766.1																																																																																				0.443	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		25	937	0	0	0	1	0	25	937				
COL4A5	1287	broad.mit.edu	37	X	107869450	107869450	+	Silent	SNP	T	T	C			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chrX:107869450T>C	ENST00000361603.2	+	36	3361	c.3117T>C	c.(3115-3117)ggT>ggC	p.G1039G	COL4A5_ENST00000328300.6_Silent_p.G1039G	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1039	Triple-helical region.		G -> S (in APSX; juvenile type).		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGCCTCAGGGTGTGGAAGGGC	0.418									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(3115-3117)ggT>ggC		collagen, type IV, alpha 5							67.0	62.0	64.0					X																	107869450		2203	4300	6503	SO:0001819	synonymous_variant	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107869450T>C	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3117T>C	X.37:g.107869450T>C						COL4A5_ENST00000361603.2_Silent_p.G1039G	p.G1039G	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			36	3361	+			1039		G -> S (in APSX; juvenile type).	Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	ENST00000361603.2	37	c.3117T>C	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	T	7.261	0.605181	0.14002	.	.	ENSG00000188153	ENST00000505728	.	.	.	5.76	3.17	0.36434	.	.	.	.	.	T	0.46347	0.1388	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41233	-0.9520	4	.	.	.	.	3.762	0.08607	0.1154:0.0738:0.2185:0.5922	.	.	.	.	A	117	.	.	V	+	2	0	COL4A5	107756106	0.659000	0.27411	0.885000	0.34714	0.840000	0.47671	0.872000	0.28037	1.928000	0.55862	0.486000	0.48141	GTG		0.418	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			9	191	0	0	0	1	0	9	191				
CMIP	80790	broad.mit.edu	37	16	81641270	81641270	+	Silent	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr16:81641270G>A	ENST00000537098.3	+	2	471	c.399G>A	c.(397-399)acG>acA	p.T133T	CMIP_ENST00000539778.2_Silent_p.T39T	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	133	PH.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						TACAGCTCACGATTCCTGGGG	0.493																																						ENST00000537098.3																			0				endometrium(5)|kidney(1)|lung(7)	13						c.(397-399)acG>acA		c-Maf inducing protein							84.0	83.0	83.0					16																	81641270		1933	4162	6095	SO:0001819	synonymous_variant	80790					cytoplasm|nucleus		g.chr16:81641270G>A	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.399G>A	16.37:g.81641270G>A						CMIP_ENST00000539778.2_Silent_p.T39T	p.T133T	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN			2	471	+			99					Q9C0G9	Silent	SNP	ENST00000537098.3	37	c.399G>A	CCDS54044.1																																																																																				0.493	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		4	160	0	0	0	1	0	4	160				
RELN	5649	broad.mit.edu	37	7	103276725	103276725	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:103276725G>A	ENST00000428762.1	-	18	2419	c.2260C>T	c.(2260-2262)Cgg>Tgg	p.R754W	RELN_ENST00000424685.2_Missense_Mutation_p.R754W|RELN_ENST00000343529.5_Missense_Mutation_p.R754W	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	754					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)		AGCTGACGCCGCCCATCTTTG	0.443																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			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.(2260-2262)Cgg>Tgg		reelin							74.0	65.0	68.0					7																	103276725		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.chr7:103276725G>A		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.2260C>T	7.37:g.103276725G>A	ENSP00000392423:p.Arg754Trp					RELN_ENST00000428762.1_Missense_Mutation_p.R754W|RELN_ENST00000343529.5_Missense_Mutation_p.R754W	p.R754W			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	18	2419	-			754					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.2260C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420106	0.62622	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.26518	1.73;1.73;1.73	5.76	2.0	0.26442	.	0.000000	0.85682	D	0.000000	T	0.43567	0.1253	L	0.50333	1.59	0.50632	D	0.999888	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.988	T	0.24764	-1.0151	10	0.62326	D	0.03	.	14.2494	0.66009	0.0:0.0:0.4862:0.5137	.	754;754	P78509-2;P78509	.;RELN_HUMAN	W	754	ENSP00000392423:R754W;ENSP00000345694:R754W;ENSP00000388446:R754W	ENSP00000345694:R754W	R	-	1	2	RELN	103063961	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	1.132000	0.31418	0.091000	0.17302	-0.282000	0.10007	CGG		0.443	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		6	299	0	0	0	1	0	6	299				
ATP2A1	487	broad.mit.edu	37	16	28914723	28914723	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr16:28914723A>C	ENST00000357084.3	+	21	3209	c.2942A>C	c.(2941-2943)gAc>gCc	p.D981A	ATP2A1_ENST00000536376.1_Missense_Mutation_p.D856A|ATP2A1_ENST00000395503.4_Missense_Mutation_p.D981A	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	981					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						ATTGGGCTCGACGAAATCCTC	0.612																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(2941-2943)gAc>gCc		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							135.0	107.0	117.0					16																	28914723		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28914723A>C		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2942A>C	16.37:g.28914723A>C	ENSP00000349595:p.Asp981Ala					ATP2A1_ENST00000357084.3_Missense_Mutation_p.D981A|ATP2A1_ENST00000536376.1_Missense_Mutation_p.D856A	p.D981A	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			21	3126	+			981					A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.2942A>C	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.277796	0.80692	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000536376	D;D;D	0.95853	-3.83;-3.83;-2.44	5.62	5.62	0.85841	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97383	0.9144	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	D	0.98061	1.0393	10	0.87932	D	0	.	14.7877	0.69816	1.0:0.0:0.0:0.0	.	856;981;981	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	A	981;981;856	ENSP00000349595:D981A;ENSP00000378879:D981A;ENSP00000443101:D856A	ENSP00000349595:D981A	D	+	2	0	ATP2A1	28822224	1.000000	0.71417	0.216000	0.23742	0.740000	0.42216	9.110000	0.94302	2.138000	0.66242	0.459000	0.35465	GAC		0.612	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		172	200	0	0	0	1	0	172	200				
VLDLR	7436	broad.mit.edu	37	9	2644767	2644767	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:2644767G>A	ENST00000382100.3	+	8	1456	c.1100G>A	c.(1099-1101)tGt>tAt	p.C367Y	VLDLR_ENST00000382099.2_Missense_Mutation_p.C367Y	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	367	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		AATGGTGGATGTTCTCATATC	0.363																																						ENST00000382100.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1099-1101)tGt>tAt		very low density lipoprotein receptor							99.0	99.0	99.0					9																	2644767		2203	4300	6503	SO:0001583	missense	7436				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	g.chr9:2644767G>A		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.1100G>A	9.37:g.2644767G>A	ENSP00000371532:p.Cys367Tyr					VLDLR_ENST00000382099.2_Missense_Mutation_p.C367Y	p.C367Y	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	8	1456	+			367			EGF-like 1.		B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	ENST00000382100.3	37	c.1100G>A	CCDS6446.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753656	0.89753	.	.	ENSG00000147852	ENST00000382100;ENST00000382099;ENST00000382092	D;D	0.99818	-6.92;-6.92	5.83	5.83	0.93111	Growth factor, receptor (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000019	D	0.99921	0.9963	H	0.99391	4.545	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.76575	0.988;0.973;0.973	D	0.96125	0.9088	10	0.87932	D	0	.	20.1162	0.97934	0.0:0.0:1.0:0.0	.	367;367;367	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	Y	367;367;246	ENSP00000371532:C367Y;ENSP00000371531:C367Y	ENSP00000371524:C246Y	C	+	2	0	VLDLR	2634767	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.476000	0.97823	2.756000	0.94617	0.655000	0.94253	TGT		0.363	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383		54	219	0	0	0	1	0	54	219				
OR6K3	391114	broad.mit.edu	37	1	158687397	158687397	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:158687397C>T	ENST00000368146.1	-	1	556	c.557G>A	c.(556-558)gGg>gAg	p.G186E	OR6K3_ENST00000368145.1_Missense_Mutation_p.G170E			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					TTGGTTGGGCCCACAGAAAGG	0.517																																						ENST00000368146.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41						c.(556-558)gGg>gAg		olfactory receptor, family 6, subfamily K, member 3							133.0	129.0	130.0					1																	158687397		2203	4300	6503	SO:0001583	missense	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158687397C>T	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.557G>A	1.37:g.158687397C>T	ENSP00000357128:p.Gly186Glu					OR6K3_ENST00000368145.1_Missense_Mutation_p.G170E	p.G186E			Q8NGY3	OR6K3_HUMAN			1	556	-	all_hematologic(112;0.0378)		186					Q5VUV0|Q6IFR5	Missense_Mutation	SNP	ENST00000368146.1	37	c.557G>A		.	.	.	.	.	.	.	.	.	.	C	15.69	2.908391	0.52333	.	.	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.38887	1.11;1.11	3.92	3.01	0.34805	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.50360	0.1611	M	0.82923	2.615	0.26748	N	0.970267	D	0.76494	0.999	D	0.83275	0.996	T	0.39313	-0.9620	9	0.87932	D	0	.	6.9059	0.24309	0.0:0.7229:0.1769:0.1002	.	186	Q8NGY3	OR6K3_HUMAN	E	170;186	ENSP00000357127:G170E;ENSP00000357128:G186E	ENSP00000357127:G170E	G	-	2	0	OR6K3	156954021	0.000000	0.05858	0.770000	0.31555	0.908000	0.53690	-0.035000	0.12205	0.980000	0.38523	0.411000	0.27672	GGG		0.517	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				18	367	0	0	0	1	0	18	367				
FERD3L	222894	broad.mit.edu	37	7	19184847	19184847	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:19184847G>A	ENST00000275461.3	-	1	197	c.139C>T	c.(139-141)Cga>Tga	p.R47*	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	47					cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R47*(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						CTTCCCTCTCGGAGCGCAAGG	0.657																																						ENST00000275461.3																			1	Substitution - Nonsense(1)	p.R47*(1)	endometrium(1)	breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						c.(139-141)Cga>Tga		Fer3-like bHLH transcription factor							49.0	40.0	43.0					7																	19184847		2203	4300	6503	SO:0001587	stop_gained	222894				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:19184847G>A	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.139C>T	7.37:g.19184847G>A	ENSP00000275461:p.Arg47*					AC003986.5_ENST00000452700.1_RNA	p.R47*	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN			1	197	-			47					Q495K0	Nonsense_Mutation	SNP	ENST00000275461.3	37	c.139C>T	CCDS5368.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.649724	0.47362	.	.	ENSG00000146618	ENST00000275461	.	.	.	5.29	-0.377	0.12501	.	1.018130	0.07844	N	0.963576	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.198	10.1516	0.42796	0.0:0.2228:0.4159:0.3614	.	.	.	.	X	47	.	ENSP00000275461:R47X	R	-	1	2	FERD3L	19151372	0.000000	0.05858	0.000000	0.03702	0.401000	0.30781	0.087000	0.14958	-0.072000	0.12864	-0.188000	0.12872	CGA		0.657	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1			16	416	0	0	0	1	0	16	416				
ITGB6	3694	broad.mit.edu	37	2	160964285	160964285	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:160964285C>T	ENST00000283249.2	-	14	2410	c.2173G>A	c.(2173-2175)Gtc>Atc	p.V725I	ITGB6_ENST00000428609.2_Missense_Mutation_p.V683I|ITGB6_ENST00000409872.1_Missense_Mutation_p.V725I|ITGB6_ENST00000409967.2_Missense_Mutation_p.V618I	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	725					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						CACAGTAGGACAACCCCGATG	0.428																																						ENST00000283249.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(2173-2175)Gtc>Atc		integrin, beta 6							119.0	117.0	118.0					2																	160964285		2203	4300	6503	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:160964285C>T		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.2173G>A	2.37:g.160964285C>T	ENSP00000283249:p.Val725Ile					ITGB6_ENST00000428609.2_Missense_Mutation_p.V683I|ITGB6_ENST00000409967.2_Missense_Mutation_p.V618I|ITGB6_ENST00000409872.1_Missense_Mutation_p.V725I	p.V725I			P18564	ITB6_HUMAN			14	2410	-			725					B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.2173G>A	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838636	0.51057	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.89681	-2.4;-2.4;-2.55;-2.4	5.79	5.79	0.91817	.	0.148524	0.49916	D	0.000129	D	0.85575	0.5728	L	0.39397	1.21	0.39302	D	0.964926	B;B	0.12630	0.006;0.002	B;B	0.06405	0.002;0.002	T	0.80132	-0.1510	10	0.24483	T	0.36	.	20.0411	0.97590	0.0:1.0:0.0:0.0	.	683;725	E9PEE8;P18564	.;ITB6_HUMAN	I	725;683;618;725	ENSP00000283249:V725I;ENSP00000408024:V683I;ENSP00000386828:V618I;ENSP00000386367:V725I	ENSP00000283249:V725I	V	-	1	0	ITGB6	160672531	0.938000	0.31826	0.989000	0.46669	0.805000	0.45488	1.906000	0.39887	2.739000	0.93911	0.655000	0.94253	GTC		0.428	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		26	330	0	0	0	1	0	26	330				
SSPO	23145	broad.mit.edu	37	7	149485990	149485990	+	RNA	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:149485990C>T	ENST00000378016.2	+	0	4209							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)			ACGACTGTGGCGATGGCTCTG	0.582																																						ENST00000378016.2																			0													SCO-spondin							83.0	87.0	85.0					7																	149485990		2184	4286	6470			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149485990C>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.149485990C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	4209	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.582	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				6	161	0	0	0	1	0	6	161				
CLSTN1	22883	broad.mit.edu	37	1	9803970	9803970	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:9803970G>A	ENST00000377298.4	-	9	2120	c.1328C>T	c.(1327-1329)cCt>cTt	p.P443L	CLSTN1_ENST00000377288.3_Missense_Mutation_p.P443L|CLSTN1_ENST00000361311.4_Missense_Mutation_p.P433L	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	443					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GAACTCTGCAGGTCTGTATTT	0.507																																						ENST00000377298.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(1327-1329)cCt>cTt		calsyntenin 1							114.0	125.0	122.0					1																	9803970		2203	4300	6503	SO:0001583	missense	22883				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	g.chr1:9803970G>A	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.1328C>T	1.37:g.9803970G>A	ENSP00000366513:p.Pro443Leu					CLSTN1_ENST00000377288.3_Missense_Mutation_p.P443L|CLSTN1_ENST00000361311.4_Missense_Mutation_p.P433L	p.P443L	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)	9	2120	-	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	443					A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	ENST00000377298.4	37	c.1328C>T	CCDS30580.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622802	0.87460	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	T;T;T;T	0.01981	4.52;4.52;4.52;4.52	5.66	5.66	0.87406	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.051638	0.85682	D	0.000000	T	0.16128	0.0388	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.00036	-1.2255	10	0.87932	D	0	-9.4216	20.1041	0.97884	0.0:0.0:1.0:0.0	.	443;433;443	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	L	443;433;263;443;443	ENSP00000366513:P443L;ENSP00000354997:P433L;ENSP00000401934:P263L;ENSP00000366502:P443L	ENSP00000354997:P433L	P	-	2	0	CLSTN1	9726557	1.000000	0.71417	0.966000	0.40874	0.419000	0.31324	9.813000	0.99286	2.826000	0.97356	0.655000	0.94253	CCT		0.507	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			137	504	0	0	0	1	0	137	504				
PHF20	51230	broad.mit.edu	37	20	34526717	34526717	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr20:34526717C>G	ENST00000374012.3	+	16	2528	c.2399C>G	c.(2398-2400)aCc>aGc	p.T800S	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	800					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GTCACTGACACCAGGAGCAAG	0.592																																						ENST00000374012.3																			0				breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2398-2400)aCc>aGc		PHD finger protein 20							68.0	69.0	68.0					20																	34526717		2203	4300	6503	SO:0001583	missense	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34526717C>G	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.2399C>G	20.37:g.34526717C>G	ENSP00000363124:p.Thr800Ser					PHF20_ENST00000439301.1_3'UTR	p.T800S			Q9BVI0	PHF20_HUMAN			16	2528	+	Breast(12;0.00631)|all_lung(11;0.0145)		800					A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	c.2399C>G	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.380692	0.24944	.	.	ENSG00000025293	ENST00000374012	T	0.31247	1.5	5.35	2.12	0.27331	.	0.829614	0.11484	N	0.559410	T	0.13372	0.0324	N	0.12182	0.205	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.16689	-1.0394	10	0.12766	T	0.61	.	3.6495	0.08198	0.3121:0.4886:0.1143:0.0851	.	800	Q9BVI0	PHF20_HUMAN	S	800	ENSP00000363124:T800S	ENSP00000363124:T800S	T	+	2	0	PHF20	33990131	0.991000	0.36638	0.816000	0.32577	0.848000	0.48234	1.923000	0.40055	0.907000	0.36646	0.655000	0.94253	ACC		0.592	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		8	517	0	0	0	1	0	8	517				
KRTAP5-8	57830	broad.mit.edu	37	11	71249545	71249545	+	Silent	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr11:71249545C>T	ENST00000398534.3	+	1	475	c.444C>T	c.(442-444)tgC>tgT	p.C148C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	148	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						AGTCCAGCTGCTGTAAGCCCT	0.607																																						ENST00000398534.3																			0				cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						c.(442-444)tgC>tgT		keratin associated protein 5-8							173.0	178.0	177.0					11																	71249545		2200	4294	6494	SO:0001819	synonymous_variant	57830					extracellular region|keratin filament	structural constituent of epidermis	g.chr11:71249545C>T	AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"""Keratin associated proteins"""	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.444C>T	11.37:g.71249545C>T							p.C148C	NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN			1	475	+			148			9 X 4 AA repeats of C-C-X-P.		Q6L8G7|Q6UTX6	Silent	SNP	ENST00000398534.3	37	c.444C>T	CCDS41683.1																																																																																				0.607	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		8	856	0	0	0	1	0	8	856				
CAMK2B	816	broad.mit.edu	37	7	44259760	44259760	+	Silent	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:44259760G>A	ENST00000395749.2	-	23	1978	c.1902C>T	c.(1900-1902)acC>acT	p.T634T	CAMK2B_ENST00000395747.2_Silent_p.T486T|CAMK2B_ENST00000502837.2_3'UTR|CAMK2B_ENST00000440254.2_Silent_p.T510T|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000350811.3_Silent_p.T510T|CAMK2B_ENST00000258682.6_Silent_p.T485T|CAMK2B_ENST00000457475.1_Silent_p.T486T|CAMK2B_ENST00000358707.3_Silent_p.T471T|CAMK2B_ENST00000346990.4_Silent_p.T417T|CAMK2B_ENST00000347193.4_Silent_p.T460T|CAMK2B_ENST00000353625.4_Silent_p.T447T	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	634					activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						CAGACTGGCTGGTGCGGGGCC	0.667																																						ENST00000395749.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						c.(1900-1902)acC>acT		calcium/calmodulin-dependent protein kinase II beta							41.0	33.0	35.0					7																	44259760		2203	4298	6501	SO:0001819	synonymous_variant	816				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr7:44259760G>A	U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"""CaM-kinase II beta chain"", ""calcium/calmodulin-dependent protein kinase type II beta chain"", ""CaM kinase II beta subunit"", ""proline rich calmodulin-dependent protein kinase"""	607707	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"""	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.1902C>T	7.37:g.44259760G>A						CAMK2B_ENST00000440254.2_Silent_p.T510T|CAMK2B_ENST00000346990.4_Silent_p.T417T|CAMK2B_ENST00000358707.3_Silent_p.T471T|CAMK2B_ENST00000395747.2_Silent_p.T486T|CAMK2B_ENST00000350811.3_Silent_p.T510T|CAMK2B_ENST00000258682.6_Silent_p.T485T|CAMK2B_ENST00000457475.1_Silent_p.T486T|CAMK2B_ENST00000353625.4_Silent_p.T447T|CAMK2B_ENST00000347193.4_Silent_p.T460T|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000502837.2_3'UTR	p.T634T	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN			23	1978	-			634					A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Silent	SNP	ENST00000395749.2	37	c.1902C>T	CCDS5483.1																																																																																				0.667	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251138.2	NM_172084		6	144	0	0	0	1	0	6	144				
SLC26A4	5172	broad.mit.edu	37	7	107350622	107350622	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:107350622G>T	ENST00000265715.3	+	19	2437	c.2213G>T	c.(2212-2214)gGt>gTt	p.G738V	SLC26A4_ENST00000541474.1_Missense_Mutation_p.G299V|SLC26A4_ENST00000543100.1_Missense_Mutation_p.G307V|SLC26A4_ENST00000544569.1_Missense_Mutation_p.G325V	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	738					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCTCAAGAGGGTCAAGGTTCC	0.358									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(2212-2214)gGt>gTt		solute carrier family 26 (anion exchanger), member 4							102.0	95.0	97.0					7																	107350622		2203	4300	6503	SO:0001583	missense	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107350622G>T	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.2213G>T	7.37:g.107350622G>T	ENSP00000265715:p.Gly738Val					SLC26A4_ENST00000541474.1_Missense_Mutation_p.G299V|SLC26A4_ENST00000543100.1_Missense_Mutation_p.G307V|SLC26A4_ENST00000544569.1_Missense_Mutation_p.G325V	p.G738V	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			19	2437	+			738					B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	c.2213G>T	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	G	7.385	0.629580	0.14257	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.94793	-3.21;-3.46;-3.52;-3.52	5.51	0.896	0.19253	.	0.942460	0.08936	N	0.872273	D	0.85212	0.5645	N	0.08118	0	0.23735	N	0.996982	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.002	T	0.72391	-0.4308	10	0.25751	T	0.34	.	6.4058	0.21664	0.0962:0.0768:0.5628:0.2642	.	299;325;738	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	V	738;299;325;307	ENSP00000265715:G738V;ENSP00000439743:G299V;ENSP00000437427:G325V;ENSP00000441209:G307V	ENSP00000265715:G738V	G	+	2	0	SLC26A4	107137858	0.000000	0.05858	0.049000	0.19019	0.891000	0.51852	0.029000	0.13666	-0.009000	0.14296	0.650000	0.86243	GGT		0.358	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		5	394	1	0	0.000602214	1	0.000613732	5	394				
ASTN2	23245	broad.mit.edu	37	9	119976846	119976846	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:119976846C>T	ENST00000313400.4	-	3	906	c.806G>A	c.(805-807)cGt>cAt	p.R269H	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.R269H|ASTN2_ENST00000361209.2_Missense_Mutation_p.R269H			O75129	ASTN2_HUMAN	astrotactin 2	269					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.R269H(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CCGGGATGAACGGAAGCTCTC	0.602																																						ENST00000313400.4																			1	Substitution - Missense(1)	p.R269H(1)	large_intestine(1)	breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(805-807)cGt>cAt		astrotactin 2							93.0	81.0	85.0					9																	119976846		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119976846C>T	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.806G>A	9.37:g.119976846C>T	ENSP00000314038:p.Arg269His					ASTN2_ENST00000373996.3_Missense_Mutation_p.R269H|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.R269H	p.R269H			O75129	ASTN2_HUMAN			3	906	-			269					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.806G>A		.	.	.	.	.	.	.	.	.	.	C	21.0	4.088561	0.76756	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000361209	T;T;T	0.24723	2.0;1.99;1.84	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000003	T	0.38374	0.1038	N	0.24115	0.695	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.991;0.999	T	0.11397	-1.0589	9	.	.	.	-18.1473	18.6589	0.91465	0.0:1.0:0.0:0.0	.	269;269;269	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	H	269	ENSP00000314038:R269H;ENSP00000363108:R269H;ENSP00000354504:R269H	.	R	-	2	0	ASTN2	119016667	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.054000	0.71096	2.491000	0.84063	0.655000	0.94253	CGT		0.602	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		90	163	0	0	0	1	0	90	163				
MASP2	10747	broad.mit.edu	37	1	11106647	11106647	+	Silent	SNP	C	C	T	rs371244593		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:11106647C>T	ENST00000400897.3	-	3	393	c.378G>A	c.(376-378)ccG>ccA	p.P126P	MASP2_ENST00000400898.3_Silent_p.P126P	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	126	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.		P -> L (in MASPD; dbSNP:rs56392418). {ECO:0000269|PubMed:16029433, ECO:0000269|PubMed:17252003}.		complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		ACCCCGTGAACGGCTTCTCGT	0.602																																					GBM(35;611 746 20780 22741 36496)	ENST00000400897.3																			0				biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(376-378)ccG>ccA		mannan-binding lectin serine peptidase 2		C	,	0,4406		0,0,2203	52.0	45.0	48.0		378,378	-6.9	0.9	1		48	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MASP2	NM_006610.3,NM_139208.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	126/687,126/186	11106647	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10747				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	g.chr1:11106647C>T	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"""mannan-binding lectin serine protease 2"", ""mannan-binding lectin serine peptidase 1 pseudogene 1"", ""mannan-binding lectin serine protease 1 pseudogene 1"""	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.378G>A	1.37:g.11106647C>T						MASP2_ENST00000400898.3_Silent_p.P126P	p.P126P	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	3	393	-	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	126		P -> L (in dbSNP:rs56392418).	CUB 1.		A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Silent	SNP	ENST00000400897.3	37	c.378G>A	CCDS123.1																																																																																				0.602	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610		6	162	0	0	0	1	0	6	162				
C10orf91	170393	broad.mit.edu	37	10	134261371	134261371	+	Missense_Mutation	SNP	C	C	T	rs201692866	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr10:134261371C>T	ENST00000392630.3	+	3	305	c.244C>T	c.(244-246)Cgt>Tgt	p.R82C	C10orf91_ENST00000321248.2_Missense_Mutation_p.R82C|C10orf91_ENST00000490765.1_3'UTR	NM_173541.2	NP_775812.1	Q5T1B1	CJ091_HUMAN	chromosome 10 open reading frame 91	82										endometrium(1)|kidney(1)|lung(1)|ovary(2)	5		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)		GCTTTCTCTGCGTCAGCCCCA	0.637													C|||	2	0.000399361	0.0	0.0014	5008	,	,		15012	0.0		0.001	False		,,,				2504	0.0					ENST00000392630.3																			0				endometrium(1)|kidney(1)|lung(1)|ovary(2)	5						c.(244-246)Cgt>Tgt		chromosome 10 open reading frame 91		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	126.0	130.0	129.0		244	-2.0	0.0	10		129	0,8600		0,0,4300	no	missense	C10orf91	NM_173541.2	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	82/146	134261371	1,13005	2203	4300	6503	SO:0001583	missense	170393							g.chr10:134261371C>T	BC030794	CCDS7668.1	10q26.3	2004-03-16			ENSG00000180066	ENSG00000180066			27275	protein-coding gene	gene with protein product						12477932	Standard	NM_173541		Approved	bA432J24.4	uc001llm.3	Q5T1B1	OTTHUMG00000019289	ENST00000392630.3:c.244C>T	10.37:g.134261371C>T	ENSP00000376407:p.Arg82Cys					C10orf91_ENST00000321248.2_Missense_Mutation_p.R82C|C10orf91_ENST00000490765.1_3'UTR	p.R82C	NM_173541.2	NP_775812.1	Q5T1B1	CJ091_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)	3	305	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	82					Q8N0T7	Missense_Mutation	SNP	ENST00000392630.3	37	c.244C>T	CCDS7668.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	9.105	1.005234	0.19199	2.27E-4	0.0	ENSG00000180066	ENST00000392630;ENST00000321248	T;T	0.07114	3.22;3.22	1.0	-2.0	0.07433	.	.	.	.	.	T	0.05044	0.0135	N	0.08118	0	0.09310	N	1	D	0.60160	0.987	P	0.49477	0.612	T	0.23797	-1.0178	9	0.87932	D	0	.	2.1978	0.03916	0.0:0.2616:0.3187:0.4197	.	82	Q5T1B1	CJ091_HUMAN	C	82	ENSP00000376407:R82C;ENSP00000323241:R82C	ENSP00000323241:R82C	R	+	1	0	C10orf91	134111361	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-2.866000	0.00723	-0.856000	0.04120	-0.672000	0.03802	CGT		0.637	C10orf91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051078.2	NM_173541		41	836	0	0	0	1	0	41	836				
MAML1	9794	broad.mit.edu	37	5	179193309	179193309	+	Missense_Mutation	SNP	C	C	T	rs199501746		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:179193309C>T	ENST00000292599.3	+	2	1561	c.1298C>T	c.(1297-1299)aCg>aTg	p.T433M	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGCAGCAGACGGGGCCCTCC	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		15996	0.001		0.0	False		,,,				2504	0.0					ENST00000292599.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1297-1299)aCg>aTg		mastermind-like 1 (Drosophila)							76.0	89.0	84.0					5																	179193309		2203	4300	6503	SO:0001583	missense	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179193309C>T	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1298C>T	5.37:g.179193309C>T	ENSP00000292599:p.Thr433Met					MAML1_ENST00000503050.1_3'UTR	p.T433M	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1561	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	433						Missense_Mutation	SNP	ENST00000292599.3	37	c.1298C>T	CCDS34315.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.05	2.121725	0.37436	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.22134	1.97	4.74	4.74	0.60224	.	0.426911	0.23960	N	0.042874	T	0.20577	0.0495	N	0.08118	0	0.30089	N	0.808464	D;D	0.67145	0.996;0.988	P;B	0.53549	0.729;0.247	T	0.08289	-1.0729	10	0.38643	T	0.18	-0.8574	17.7022	0.88298	0.0:1.0:0.0:0.0	.	470;433	Q59GH4;Q92585	.;MAML1_HUMAN	M	433;470	ENSP00000292599:T433M	ENSP00000292599:T433M	T	+	2	0	MAML1	179125915	0.368000	0.25031	0.981000	0.43875	0.702000	0.40608	3.965000	0.56788	2.177000	0.69029	0.313000	0.20887	ACG		0.607	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		100	547	0	0	0	1	0	100	547				
ARF1	375	broad.mit.edu	37	1	228284870	228284870	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:228284870C>T	ENST00000541182.1	+	2	317	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C	ARF1_ENST00000540651.1_Missense_Mutation_p.R19C|ARF1_ENST00000272102.5_Missense_Mutation_p.R19C|ARF1_ENST00000478424.1_3'UTR|MIR3620_ENST00000584469.1_RNA	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	19					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular copper ion homeostasis (GO:0006878)|COPI coating of Golgi vesicle (GO:0048205)|dendritic spine organization (GO:0097061)|GTP catabolic process (GO:0006184)|long term synaptic depression (GO:0060292)|membrane organization (GO:0061024)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|regulation of defense response to virus by virus (GO:0050690)|regulation of receptor internalization (GO:0002090)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				AAAAGAAATGCGCATCCTCAT	0.542																																						ENST00000541182.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10						c.(55-57)Cgc>Tgc		ADP-ribosylation factor 1							122.0	103.0	109.0					1																	228284870		2203	4300	6503	SO:0001583	missense	375				cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity	g.chr1:228284870C>T	M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761		"""ADP-ribosylation factors"", ""Endogenous ligands"""	652	protein-coding gene	gene with protein product		103180				1577740	Standard	NM_001658		Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.55C>T	1.37:g.228284870C>T	ENSP00000440005:p.Arg19Cys					ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000272102.5_Missense_Mutation_p.R19C|ARF1_ENST00000540651.1_Missense_Mutation_p.R19C	p.R19C	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN			2	317	+		Prostate(94;0.0405)	19					P10947|P32889	Missense_Mutation	SNP	ENST00000541182.1	37	c.55C>T	CCDS1565.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332131	0.81801	.	.	ENSG00000143761	ENST00000272102;ENST00000540651;ENST00000542941;ENST00000541182	D;D;D	0.83914	-1.78;-1.78;-1.78	5.55	3.59	0.41128	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000010	D	0.91774	0.7398	H	0.95574	3.69	0.80722	D	1	P;P	0.50617	0.578;0.937	B;P	0.55087	0.126;0.768	D	0.94225	0.7471	10	0.66056	D	0.02	-3.5806	14.8756	0.70491	0.2608:0.7392:0.0:0.0	.	19;19	B4DJC8;P84077	.;ARF1_HUMAN	C	19	ENSP00000272102:R19C;ENSP00000442980:R19C;ENSP00000440005:R19C	ENSP00000272102:R19C	R	+	1	0	ARF1	226351493	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.072000	0.50049	1.562000	0.49601	0.591000	0.81541	CGC		0.542	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091650.1	NM_001024227		5	451	0	0	0	1	0	5	451				
ZNF462	58499	broad.mit.edu	37	9	109690583	109690583	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:109690583G>A	ENST00000277225.5	+	3	4679	c.4390G>A	c.(4390-4392)Gcc>Acc	p.A1464T	ZNF462_ENST00000441147.2_Missense_Mutation_p.A309T|ZNF462_ENST00000457913.1_Missense_Mutation_p.A1464T			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1464					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AGCCAACCCCGCCATATCCTC	0.527																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(4390-4392)Gcc>Acc		zinc finger protein 462							52.0	53.0	53.0					9																	109690583		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109690583G>A	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.4390G>A	9.37:g.109690583G>A	ENSP00000277225:p.Ala1464Thr					ZNF462_ENST00000457913.1_Missense_Mutation_p.A1464T|ZNF462_ENST00000441147.2_Missense_Mutation_p.A309T	p.A1464T			Q96JM2	ZN462_HUMAN			3	4679	+			1464					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.4390G>A	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354926	0.61293	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.05447	3.44;3.86;3.97;3.98	5.84	5.84	0.93424	.	0.050711	0.85682	D	0.000000	T	0.10380	0.0254	L	0.29908	0.895	0.80722	D	1	D;D	0.67145	0.982;0.996	P;P	0.48770	0.589;0.557	T	0.06338	-1.0832	10	0.39692	T	0.17	.	20.1278	0.97990	0.0:0.0:1.0:0.0	.	1464;1464	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	T	1464;1464;347;309	ENSP00000277225:A1464T;ENSP00000414570:A1464T;ENSP00000363818:A347T;ENSP00000397306:A309T	ENSP00000277225:A1464T	A	+	1	0	ZNF462	108730404	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	6.980000	0.76160	2.768000	0.95171	0.561000	0.74099	GCC		0.527	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		5	164	0	0	0	1	0	5	164				
TYW1B	441250	broad.mit.edu	37	7	72209576	72209576	+	RNA	SNP	C	C	G			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:72209576C>G	ENST00000435769.2	-	0	1089				TYW1B_ENST00000438904.2_RNA|TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000343721.5_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										CTCGGAGCATCGACTATGACA	0.413																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							233.0	179.0	195.0					7																	72209576		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72209576C>G	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72209576C>G										Q6NUM6	TYW1B_HUMAN			0	579	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.413	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		5	390	0	0	0	1	0	5	390				
LZIC	84328	broad.mit.edu	37	1	9990460	9990460	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:9990460delT	ENST00000377223.1	-	8	817	c.570delA	c.(568-570)aaafs	p.K190fs	LZIC_ENST00000377213.1_Frame_Shift_Del_p.K190fs|LZIC_ENST00000541052.1_Frame_Shift_Del_p.K211fs|LZIC_ENST00000400903.2_Frame_Shift_Del_p.K190fs	NM_032368.3	NP_115744.2	Q8WZA0	LZIC_HUMAN	leucine zipper and CTNNBIP1 domain containing	190					response to ionizing radiation (GO:0010212)					breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.29e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;0.000242)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.00842)|READ - Rectum adenocarcinoma(331;0.0419)		CACCATGTCATTTTTTTGTTT	0.333																																						ENST00000377223.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7						c.(568-570)aafs		leucine zipper and CTNNBIP1 domain containing							203.0	216.0	211.0					1																	9990460		2203	4300	6503	SO:0001589	frameshift_variant	84328						beta-catenin binding	g.chr1:9990460delT	AB060688	CCDS107.1	1p36.22	2008-02-05			ENSG00000162441	ENSG00000162441			17497	protein-coding gene	gene with protein product		610458				11712074	Standard	NM_032368		Approved	MGC15436	uc001aqm.3	Q8WZA0	OTTHUMG00000001804	ENST00000377223.1:c.570delA	1.37:g.9990460delT	ENSP00000366430:p.Lys190fs					LZIC_ENST00000541052.1_Frame_Shift_Del_p.K211fs|LZIC_ENST00000400903.2_Frame_Shift_Del_p.K190fs|LZIC_ENST00000377213.1_Frame_Shift_Del_p.K190fs	p.K190fs			Q8WZA0	LZIC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.29e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;0.000242)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.00842)|READ - Rectum adenocarcinoma(331;0.0419)	8	817	-		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	190					B2R6F0|B4E2N0|Q96IU1	Frame_Shift_Del	DEL	ENST00000377223.1	37	c.570delA	CCDS107.1																																																																																				0.333	LZIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005037.1	NM_032368		7	1427						7	1427	---	---	---	---
CROCCP2	84809	broad.mit.edu	37	1	16953827	16953828	+	lincRNA	INS	-	-	C	rs57007114|rs397767732		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:16953827_16953828insC	ENST00000412962.1	-	0	477							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TCACTTTCCTGCCCGAACCTCC	0.609																																						ENST00000412962.1																			0																																																			0							g.chr1:16953827_16953828insC	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16953830_16953830dupC														0	477	-								Q8NF65|Q96FR5|Q9BRE8	RNA	INS	ENST00000412962.1	37																																																																																						0.609	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		8	115						8	115	---	---	---	---
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796|rs79472512	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1				espin pseudogene																		CAGCAGCAGCCAGCTGAGCACC	0.718														1500	0.299521	0.1188	0.3444	5008	,	,		24180	0.4177		0.3101	False		,,,				2504	0.3793					ENST00000492551.1																			0																																																			0							g.chr1:17034125_17034126insAGCT	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034126_17034129dupAGCT								NR_026567.1						0	477_478	-									RNA	INS	ENST00000492551.1	37																																																																																						0.718	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			8	34						8	34	---	---	---	---
AUNIP	79000	broad.mit.edu	37	1	26186960	26186960	+	5'Flank	DEL	T	T	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:26186960delT	ENST00000374298.3	-	0	0				RP1-125I3.2_ENST00000455431.1_RNA|AUNIP_ENST00000538789.1_5'Flank	NM_024037.1	NP_076942.1	Q9H7T9	AUNIP_HUMAN	aurora kinase A and ninein interacting protein						spindle organization (GO:0007051)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)											AATTTTGTAATTTTTTTTTTT	0.552																																						ENST00000455431.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr1:26186960delT		CCDS266.1, CCDS72731.1	1p36.11	2012-08-07	2012-08-07	2012-08-07	ENSG00000127423	ENSG00000127423			28363	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 135"""	C1orf135		20596670	Standard	NM_001287490		Approved	MGC2603, AIBp	uc001bkw.1	Q9H7T9	OTTHUMG00000007372		1.37:g.26186960delT	Exception_encountered													0	263	+								C9EI59|Q53F70	RNA	DEL	ENST00000374298.3	37		CCDS266.1																																																																																				0.552	AUNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019309.2	NM_024037		7	22						7	22	---	---	---	---
RP11-782C8.2	0	broad.mit.edu	37	1	143210193	143210194	+	lincRNA	INS	-	-	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:143210193_143210194insT	ENST00000412204.2	-	0	876_877				RP11-782C8.1_ENST00000438000.1_lincRNA																							GGCAGCATTTGTTTTTTTAACA	0.317																																						ENST00000412204.2																			0																																																			0							g.chr1:143210193_143210194insT																													1.37:g.143210200_143210200dupT						RP11-782C8.1_ENST00000438000.1_lincRNA								0	876_877	-									RNA	INS	ENST00000412204.2	37																																																																																						0.317	RP11-782C8.2-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037567.2			26	471						26	471	---	---	---	---
BCL9	607	broad.mit.edu	37	1	147091501	147091501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:147091501delC	ENST00000234739.3	+	8	2280	c.1540delC	c.(1540-1542)cccfs	p.P517fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	517	Poly-Pro.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGTCCGAGGACCCCCCCCTCC	0.582			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(1540-1542)ccfs		B-cell CLL/lymphoma 9				35,42,4183		0,0,35,4,34,2057	60.0	70.0	66.0			3.6	1.0	1		67	38,97,8115		0,0,38,24,49,4014	no	codingComplex	BCL9	NM_004326.2		0,0,73,28,83,6071	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6364,1.8075,1.6946			147091501	73,139,12298	2203	4300	6503	SO:0001589	frameshift_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147091501delC	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1540delC	1.37:g.147091501delC	ENSP00000234739:p.Pro517fs						p.P517fs	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	2280	+	all_hematologic(923;0.115)		517			Poly-Pro.|Pro-rich.		Q5T489	Frame_Shift_Del	DEL	ENST00000234739.3	37	c.1540delC	CCDS30833.1																																																																																				0.582	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		11	614						11	614	---	---	---	---
NBPF20	100288142	broad.mit.edu	37	1	148262260	148262260	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:148262260delG	ENST00000369202.1	-	98	12353	c.12156delC	c.(12154-12156)cccfs	p.P4052fs				Q3BBV1	NBPFK_HUMAN	neuroblastoma breakpoint family, member 20	617						cytoplasm (GO:0005737)				breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						AAAGTCACCTGGGGCATGGTG	0.443																																						ENST00000369202.1																			0				breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						c.(12154-12156)ccfs		neuroblastoma breakpoint family, member 20																																				SO:0001589	frameshift_variant	100288142							g.chr1:148262260delG		CCDS72856.1	1q21.2	2014-01-16			ENSG00000203832			"""neuroblastoma breakpoint family"""	32000	protein-coding gene	gene with protein product		614007				16079250	Standard	NM_001278267		Approved			Q3BBV1	OTTHUMG00000042439	ENST00000369202.1:c.12156delC	1.37:g.148262260delG	ENSP00000358203:p.Pro4052fs						p.P4052fs							98	12353	-									Frame_Shift_Del	DEL	ENST00000369202.1	37	c.12156delC																																																																																					0.443	NBPF20-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000100689.2			7	2144						7	2144	---	---	---	---
HIST2H2BB	338391	broad.mit.edu	37	1	149377834	149377839	+	lincRNA	DEL	TCTTTG	TCTTTG	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:149377834_149377839delTCTTTG	ENST00000415338.1	-	0	1061				HIST2H2BB_ENST00000609585.1_RNA																							GTATCTCTTCTCTTTGTCTTTTTCTG	0.461																																						ENST00000415338.1																			0																																																			0							g.chr1:149377834_149377839delTCTTTG																													1.37:g.149377834_149377839delTCTTTG														0	1061	-									RNA	DEL	ENST00000415338.1	37																																																																																						0.461	RP5-998N21.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098435.1			11	17						11	17	---	---	---	---
UBAP2L	9898	broad.mit.edu	37	1	154224030	154224036	+	Frame_Shift_Del	DEL	AGTTTGG	AGTTTGG	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:154224030_154224036delAGTTTGG	ENST00000361546.2	+	13	1607_1613	c.1565_1571delAGTTTGG	c.(1564-1572)cagtttgggfs	p.QFG522fs	UBAP2L_ENST00000428931.1_Frame_Shift_Del_p.QFG522fs|AL590431.1_ENST00000517008.1_RNA|UBAP2L_ENST00000343815.6_Frame_Shift_Del_p.QFG522fs|UBAP2L_ENST00000271877.7_Frame_Shift_Del_p.QFG533fs			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	522					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGGGCATTGCAGTTTGGGTCAGAGCCT	0.531																																						ENST00000428931.1																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50						c.(1564-1572)cgfs		ubiquitin associated protein 2-like																																				SO:0001589	frameshift_variant	9898				binding of sperm to zona pellucida		protein binding	g.chr1:154224030_154224036delAGTTTGG	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.1565_1571delAGTTTGG	1.37:g.154224030_154224036delAGTTTGG	ENSP00000355343:p.Gln522fs					UBAP2L_ENST00000361546.2_Frame_Shift_Del_p.QFG522fs|UBAP2L_ENST00000343815.6_Frame_Shift_Del_p.QFG522fs|UBAP2L_ENST00000271877.7_Frame_Shift_Del_p.QFG533fs	p.QFG522fs	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		14	1732_1738	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		522					B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Frame_Shift_Del	DEL	ENST00000361546.2	37	c.1565_1571delAGTTTGG	CCDS1063.1																																																																																				0.531	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		29	769						29	769	---	---	---	---
CADM3	57863	broad.mit.edu	37	1	159163298	159163299	+	Frame_Shift_Ins	INS	-	-	AGCA			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:159163298_159163299insAGCA	ENST00000368125.4	+	4	625_626	c.468_469insAGCA	c.(469-471)agcfs	p.-158fs	CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Frame_Shift_Ins_p.-192fs	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3						adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					AGTCTTCTGGGAGCAAGCCTGC	0.52																																						ENST00000368125.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(466-471)gggcaafs		cell adhesion molecule 3																																				SO:0001589	frameshift_variant	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159163298_159163299insAGCA	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.469_472dupAGCA	1.37:g.159163299_159163302dupAGCA	ENSP00000357107:p.Lys158fs					CADM3_ENST00000368124.4_Frame_Shift_Ins_p.Q191fs	p.Q157fs	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN			4	625_626	+	all_hematologic(112;0.0429)		157			Ig-like C2-type 1.		Q8IZQ9|Q9NVJ5|Q9UJP1	Frame_Shift_Ins	INS	ENST00000368125.4	37	c.468_469insAGCA	CCDS44251.1																																																																																				0.520	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		7	291						7	291	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237969494	237969494	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr1:237969494delT	ENST00000366574.2	+	99	14526	c.14209delT	c.(14209-14211)tttfs	p.F4739fs	RYR2_ENST00000542537.1_Frame_Shift_Del_p.F4723fs|RYR2_ENST00000360064.6_Frame_Shift_Del_p.F4745fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4739					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTATAACAACTTTTTTTTTGC	0.403																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(14209-14211)ttfs		ryanodine receptor 2 (cardiac)							241.0	211.0	220.0					1																	237969494		1888	4108	5996	SO:0001589	frameshift_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237969494delT	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14209delT	1.37:g.237969494delT	ENSP00000355533:p.Phe4739fs					RYR2_ENST00000542537.1_Frame_Shift_Del_p.F4723fs|RYR2_ENST00000360064.6_Frame_Shift_Del_p.F4745fs	p.F4739fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		99	14526	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4739					Q15411|Q546N8|Q5T3P2	Frame_Shift_Del	DEL	ENST00000366574.2	37	c.14209delT	CCDS55691.1																																																																																				0.403	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		7	250						7	250	---	---	---	---
SLC3A1	6519	broad.mit.edu	37	2	44502859	44502860	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:44502859_44502860insC	ENST00000260649.6	+	1	261_262	c.185_186insC	c.(184-189)gtccagfs	p.Q63fs	SLC3A1_ENST00000409741.1_Frame_Shift_Ins_p.Q63fs|SLC3A1_ENST00000410056.3_Frame_Shift_Ins_p.Q63fs|SLC3A1_ENST00000409387.1_Frame_Shift_Ins_p.Q63fs|SLC3A1_ENST00000409229.3_Frame_Shift_Ins_p.Q63fs	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	63					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	TTCAAGGGCGTCCAGCCCTATG	0.614																																						ENST00000260649.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26						c.(184-186)gcafs		solute carrier family 3 (amino acid transporter heavy chain), member 1	L-Cystine(DB00138)																																			SO:0001589	frameshift_variant	6519				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	g.chr2:44502859_44502860insC		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"""Solute carriers"""	11025	protein-coding gene	gene with protein product		104614	"""solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"""			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.187dupC	2.37:g.44502861_44502861dupC	ENSP00000260649:p.Gln63fs					SLC3A1_ENST00000410056.3_Frame_Shift_Ins_p.A62fs|SLC3A1_ENST00000409229.3_Frame_Shift_Ins_p.A62fs|SLC3A1_ENST00000409741.1_Frame_Shift_Ins_p.A62fs|SLC3A1_ENST00000409387.1_Frame_Shift_Ins_p.A62fs	p.A62fs	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN			1	261_262	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	62					A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Frame_Shift_Ins	INS	ENST00000260649.6	37	c.185_186insC	CCDS1819.1																																																																																				0.614	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		23	125						23	125	---	---	---	---
SLC9A4	389015	broad.mit.edu	37	2	103149137	103149137	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:103149137delA	ENST00000295269.4	+	12	2844	c.2387delA	c.(2386-2388)caafs	p.Q796fs		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	796					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCTTTGCTCCAAAAAAAATAG	0.473																																						ENST00000295269.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2386-2388)cafs		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4							43.0	37.0	39.0					2																	103149137		2203	4300	6503	SO:0001589	frameshift_variant	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103149137delA		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2387delA	2.37:g.103149137delA	ENSP00000295269:p.Gln796fs						p.Q796fs	NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN			12	2844	+			796					Q69YK0	Frame_Shift_Del	DEL	ENST00000295269.4	37	c.2387delA	CCDS33264.1																																																																																				0.473	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		9	168						9	168	---	---	---	---
GCC2	9648	broad.mit.edu	37	2	109087883	109087884	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:109087883_109087884insA	ENST00000309863.6	+	6	2812_2813	c.2098_2099insA	c.(2098-2100)gaafs	p.E700fs		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	700					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTCAGTTCAGAAAAAAAACAG	0.307																																						ENST00000309863.6																			0				breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(2098-2100)aaafs		GRIP and coiled-coil domain containing 2																																				SO:0001589	frameshift_variant	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109087883_109087884insA	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2106dupA	2.37:g.109087891_109087891dupA	ENSP00000307939:p.Glu700fs						p.K700fs	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN			6	2812_2813	+			700					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Frame_Shift_Ins	INS	ENST00000309863.6	37	c.2098_2099insA	CCDS33268.1																																																																																				0.307	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		9	1170						9	1170	---	---	---	---
TNS1	7145	broad.mit.edu	37	2	218712887	218712889	+	In_Frame_Del	DEL	GCT	GCT	-	rs375721540|rs574153391		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr2:218712887_218712889delGCT	ENST00000171887.4	-	17	2428_2430	c.1976_1978delAGC	c.(1975-1980)cagcct>cct	p.Q659del	TNS1_ENST00000419504.1_In_Frame_Del_p.Q659del|TNS1_ENST00000430930.1_In_Frame_Del_p.Q659del|TNS1_ENST00000480665.1_5'Flank	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	659	Gln-rich.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGTGGGCGAGgctgctgctgctg	0.66																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(1975-1980)cct>c		tensin 1																																				SO:0001651	inframe_deletion	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218712887_218712889delGCT	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1976_1978delAGC	2.37:g.218712896_218712898delGCT	ENSP00000171887:p.Gln659del					TNS1_ENST00000430930.1_In_Frame_Del_p.QP659del|TNS1_ENST00000419504.1_In_Frame_Del_p.QP659del	p.QP659del	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	17	2428_2430	-		Renal(207;0.0483)|Lung NSC(271;0.213)	659			Gln-rich.		Q4ZG71|Q6IPI5	In_Frame_Del	DEL	ENST00000171887.4	37	c.1976_1978delAGC	CCDS2407.1																																																																																				0.660	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		7	80						7	80	---	---	---	---
EDEM1	9695	broad.mit.edu	37	3	5248941	5248941	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr3:5248941delT	ENST00000256497.4	+	7	1454	c.1321delT	c.(1321-1323)tttfs	p.F442fs	EDEM1_ENST00000445686.1_Frame_Shift_Del_p.F247fs	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	442					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		TCTGCAGGCCTTTTTCCCTGG	0.463																																						ENST00000256497.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1321-1323)ttfs		ER degradation enhancer, mannosidase alpha-like 1							155.0	149.0	151.0					3																	5248941		2203	4300	6503	SO:0001589	frameshift_variant	9695				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr3:5248941delT	D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.1321delT	3.37:g.5248941delT	ENSP00000256497:p.Phe442fs					EDEM1_ENST00000445686.1_Frame_Shift_Del_p.F247fs	p.F442fs	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN		Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)	7	1454	+			442					A8K9C8|B4DXP3	Frame_Shift_Del	DEL	ENST00000256497.4	37	c.1321delT	CCDS33686.1																																																																																				0.463	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2	NM_014674		7	492						7	492	---	---	---	---
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)gatdel	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507																																						ENST00000383693.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(13-15)del		leukemia NUP98 fusion partner 1																																				SO:0001651	inframe_deletion	348801							g.chr3:100148586_100148588delGAT		CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535			28014	protein-coding gene	gene with protein product						16467868	Standard	NM_001085451		Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.13_15delGAT	3.37:g.100148595_100148597delGAT	ENSP00000373191:p.Asp10del					LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN			2	1293_1295	+			10			Poly-Asp.		B7ZLT3	In_Frame_Del	DEL	ENST00000383693.3	37	c.13_15delGAT	CCDS43120.1																																																																																				0.507	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1			8	942						8	942	---	---	---	---
TFG	10342	broad.mit.edu	37	3	100455439	100455441	+	In_Frame_Del	DEL	AGA	AGA	-	rs371412179		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr3:100455439_100455441delAGA	ENST00000240851.4	+	6	940_942	c.600_602delAGA	c.(598-603)gcagaa>gca	p.E201del	TFG_ENST00000418917.2_In_Frame_Del_p.E201del|TFG_ENST00000476228.1_In_Frame_Del_p.E201del|TFG_ENST00000490574.1_In_Frame_Del_p.E201del	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	201					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						GTGCTCCTGCAGAAGATCGTTCA	0.512			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""																																	ENST00000240851.4				Dom	yes		3	3q11-q12	10342	T	TRK-fused gene			"""E, L"""	"""NTRK1, ALK"""		"""papillary thyroid, ALCL, NSCLC"""	TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	0				large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						c.(598-603)gca>gc		TRK-fused gene																																				SO:0001651	inframe_deletion	10342				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity	g.chr3:100455439_100455441delAGA	BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.600_602delAGA	3.37:g.100455442_100455444delAGA	ENSP00000240851:p.Glu201del					TFG_ENST00000490574.1_In_Frame_Del_p.AE200del|TFG_ENST00000476228.1_In_Frame_Del_p.AE200del|TFG_ENST00000418917.2_In_Frame_Del_p.AE200del	p.AE200del	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN			6	940_942	+			200					D3DN49|G5E9V1|Q15656|Q969I2	In_Frame_Del	DEL	ENST00000240851.4	37	c.600_602delAGA	CCDS2939.1																																																																																				0.512	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1	NM_006070		28	250						28	250	---	---	---	---
EIF4G1	1981	broad.mit.edu	37	3	184039744	184039746	+	In_Frame_Del	DEL	GAA	GAA	-	rs530167757	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr3:184039744_184039746delGAA	ENST00000346169.2	+	10	1643_1645	c.1372_1374delGAA	c.(1372-1374)gaadel	p.E465del	EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000342981.4_In_Frame_Del_p.E465del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	465	Poly-Glu.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAGGAAATGgaagaagaagaag	0.562																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(1372-1374)del		eukaryotic translation initiation factor 4 gamma, 1																																				SO:0001651	inframe_deletion	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184039744_184039746delGAA	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1372_1374delGAA	3.37:g.184039753_184039755delGAA	ENSP00000316879:p.Glu465del					EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000346169.2_In_Frame_Del_p.E465del|EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del	p.E465del	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		9	1786_1788	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		465			Poly-Glu.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	In_Frame_Del	DEL	ENST00000346169.2	37	c.1372_1374delGAA	CCDS3259.1																																																																																				0.562	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		7	347						7	347	---	---	---	---
CRIPAK	285464	broad.mit.edu	37	4	1389361	1389362	+	Frame_Shift_Del	DEL	CA	CA	-	rs571164794	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr4:1389361_1389362delCA	ENST00000324803.4	+	1	4022_4023	c.1062_1063delCA	c.(1060-1065)ctcacafs	p.T355fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	355					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCCGCCTGCTCACACGTGCCCA	0.653														3	0.000599042	0.0015	0.0	5008	,	,		19095	0.0		0.001	False		,,,				2504	0.0					ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(1060-1065)ctcafs		cysteine-rich PAK1 inhibitor				8,4244		0,8,2118						-1.1	0.0			160	7,8229		0,7,4111	no	frameshift	CRIPAK	NM_175918.3		0,15,6229	A1A1,A1R,RR		0.085,0.1881,0.1201				15,12473				SO:0001589	frameshift_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389361_1389362delCA	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.1062_1063delCA	4.37:g.1389363_1389364delCA	ENSP00000323978:p.Thr355fs						p.LT354fs	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	4022_4023	+			354					Q8NB03	Frame_Shift_Del	DEL	ENST00000324803.4	37	c.1062_1063delCA	CCDS3349.1																																																																																				0.653	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		8	2078						8	2078	---	---	---	---
UGDH	7358	broad.mit.edu	37	4	39515752	39515753	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr4:39515752_39515753insA	ENST00000316423.6	-	3	556_557	c.214_215insT	c.(214-216)tctfs	p.S72fs	UGDH_ENST00000515398.1_5'UTR|UGDH_ENST00000501493.2_Frame_Shift_Ins_p.S72fs|UGDH_ENST00000507089.1_5'UTR|UGDH_ENST00000506179.1_Frame_Shift_Ins_p.S72fs	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	72					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)	p.S72fs*18(1)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						AATATTGGTAGAAAAAAAAAGA	0.297																																						ENST00000316423.6																			1	Deletion - Frameshift(1)	p.S72fs*18(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						c.(214-216)tacfs		UDP-glucose 6-dehydrogenase	NADH(DB00157)																																			SO:0001589	frameshift_variant	7358				glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	g.chr4:39515752_39515753insA	AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"""UDP-glucose dehydrogenase"""			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.215dupT	4.37:g.39515761_39515761dupA	ENSP00000319501:p.Ser72fs					UGDH_ENST00000506179.1_Frame_Shift_Ins_p.Y72fs|UGDH_ENST00000507089.1_5'UTR|UGDH_ENST00000515398.1_5'UTR|UGDH_ENST00000501493.2_Frame_Shift_Ins_p.Y72fs	p.Y72fs	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN			3	556_557	-			72					B3KUU2|B4DN25|O60589	Frame_Shift_Ins	INS	ENST00000316423.6	37	c.214_215insT	CCDS3455.1																																																																																				0.297	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	NM_003359		16	813						16	813	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134073569	134073571	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr4:134073569_134073571delCTG	ENST00000264360.5	+	1	3100_3102	c.2274_2276delCTG	c.(2272-2277)ctctgc>ctc	p.C763del		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	763	Cys-rich.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTGCTGCCTCTGCTGCTGCTGC	0.581																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(2272-2277)ctc>ct		protocadherin 10																																				SO:0001651	inframe_deletion	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073569_134073571delCTG	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2274_2276delCTG	4.37:g.134073578_134073580delCTG	ENSP00000264360:p.Cys763del						p.LC758del	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	3100_3102	+			758			Cys-rich.		Q4W5F6|Q96SF0	In_Frame_Del	DEL	ENST00000264360.5	37	c.2274_2276delCTG	CCDS34063.1																																																																																				0.581	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		9	238						9	238	---	---	---	---
FAM198B	51313	broad.mit.edu	37	4	159091487	159091489	+	Intron	DEL	GCT	GCT	-	rs370831945		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr4:159091487_159091489delGCT	ENST00000296530.8	-	2	1532				FAM198B_ENST00000585682.1_Intron|RP11-597D13.9_ENST00000509463.1_RNA|RP11-597D13.9_ENST00000505532.1_RNA|RP11-597D13.9_ENST00000514381.1_RNA|FAM198B_ENST00000589306.1_Intron|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000393807.5_In_Frame_Del_p.307_308AA>A|FAM198B_ENST00000592057.1_3'UTR	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B							Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GGAAAGACACGCTGCTGCTGCTG	0.458																																						ENST00000393807.5																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						c.(919-924)gcg>gc		family with sequence similarity 198, member B																																				SO:0001627	intron_variant	51313					Golgi membrane|integral to membrane		g.chr4:159091487_159091489delGCT		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.910+128AGC>-	4.37:g.159091496_159091498delGCT						FAM198B_ENST00000585682.1_Intron|FAM198B_ENST00000296530.8_Intron|FAM198B_ENST00000592057.1_3'UTR|FAM198B_ENST00000589306.1_Intron	p.AA307del	NM_001031700.2	NP_001026870.2	Q6UWH4	F198B_HUMAN			3	1327_1329	-			307					Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	In_Frame_Del	DEL	ENST00000296530.8	37	c.921_923delAGC	CCDS3798.1																																																																																				0.458	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		7	339						7	339	---	---	---	---
UFSP2	55325	broad.mit.edu	37	4	186336369	186336370	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr4:186336369_186336370insT	ENST00000264689.6	-	6	739_740	c.623_624insA	c.(622-624)aatfs	p.N208fs	UFSP2_ENST00000502282.1_5'Flank|Y_RNA_ENST00000384502.1_RNA	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	208						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		TTGTTACAAGATTTTTTTTCCC	0.342																																						ENST00000264689.6																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(622-624)actfs		UFM1-specific peptidase 2																																				SO:0001589	frameshift_variant	55325					endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity	g.chr4:186336369_186336370insT	AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775			25640	protein-coding gene	gene with protein product		611482	"""chromosome 4 open reading frame 20"""	C4orf20		17182609	Standard	NM_018359		Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.624dupA	4.37:g.186336377_186336377dupT	ENSP00000264689:p.Asn208fs						p.T208fs	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)	6	739_740	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	208					Q6IA77|Q96FS3	Frame_Shift_Ins	INS	ENST00000264689.6	37	c.623_624insA	CCDS3842.1																																																																																				0.342	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360589.2	NM_018359		110	215						110	215	---	---	---	---
FRG1	2483	broad.mit.edu	37	4	190882978	190882980	+	Splice_Site	DEL	AAG	AAG	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr4:190882978_190882980delAAG	ENST00000226798.4	+	8	853_855	c.631_633delAAG	c.(631-633)aagdel	p.K212del		NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	212					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TCTTTACAGAAAGAAATTTCAGA	0.276																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.e8-1		FSHD region gene 1																																				SO:0001630	splice_region_variant	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190882978_190882980delAAG	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.630-1AAG>-	4.37:g.190882978_190882980delAAG							p.K212_splice	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	8	853_855	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	212					A8K775	Splice_Site	DEL	ENST00000226798.4	37	c.629_splice	CCDS34121.1																																																																																				0.276	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477	In_Frame_Del	7	912						7	912	---	---	---	---
SRFBP1	153443	broad.mit.edu	37	5	121356129	121356130	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:121356129_121356130insA	ENST00000339397.4	+	6	771_772	c.699_700insA	c.(700-702)aaafs	p.K234fs		NM_152546.2	NP_689759.2			serum response factor binding protein 1											central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		TAAGTCAAACCAAAAAAAACAA	0.401																																						ENST00000339397.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15						c.(697-702)acaaaafs		serum response factor binding protein 1																																				SO:0001589	frameshift_variant	153443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		g.chr5:121356129_121356130insA	AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"""BUD22 homolog (S. cerevisiae)"""	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.707dupA	5.37:g.121356137_121356137dupA	ENSP00000341324:p.Lys234fs						p.TK233fs	NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)	6	771_772	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	233						Frame_Shift_Ins	INS	ENST00000339397.4	37	c.699_700insA	CCDS43354.1																																																																																				0.401	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	NM_152546		10	561						10	561	---	---	---	---
TIMD4	91937	broad.mit.edu	37	5	156378745	156378747	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:156378745_156378747delTTG	ENST00000274532.2	-	3	511_513	c.455_457delCAA	c.(454-459)acaagc>agc	p.T152del	TIMD4_ENST00000407087.3_In_Frame_Del_p.T152del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	152	Thr-rich.					integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTGGGGCTTGTTGTTGTTGT	0.537																																						ENST00000274532.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37						c.(454-459)agc>a		T-cell immunoglobulin and mucin domain containing 4																																				SO:0001651	inframe_deletion	91937					integral to membrane		g.chr5:156378745_156378747delTTG	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.455_457delCAA	5.37:g.156378754_156378756delTTG	ENSP00000274532:p.Thr152del					TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del	p.TS152del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	511_513	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	152			Thr-rich.		B5MCL9	In_Frame_Del	DEL	ENST00000274532.2	37	c.455_457delCAA	CCDS4332.1																																																																																				0.537	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		11	1419						11	1419	---	---	---	---
HMMR	3161	broad.mit.edu	37	5	162917425	162917426	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr5:162917425_162917426insA	ENST00000358715.3	+	17	2025_2026	c.1989_1990insA	c.(1990-1992)aaafs	p.K664fs	HMMR_ENST00000353866.3_Frame_Shift_Ins_p.K649fs|HMMR_ENST00000393915.4_Frame_Shift_Ins_p.K665fs|RP11-80G7.1_ENST00000521666.1_RNA|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000432118.2_Frame_Shift_Ins_p.K578fs			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	664	Hyaluronic acid-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	GTCAGCTTGCTAAAAAAAAACA	0.307																																						ENST00000416990.2																			0				cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23						c.(1645-1650)gcaaaafs		hyaluronan-mediated motility receptor (RHAMM)																																				SO:0001589	frameshift_variant	3161					cell surface|cytoplasm	hyaluronic acid binding	g.chr5:162917425_162917426insA	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1998dupA	5.37:g.162917434_162917434dupA	ENSP00000351554:p.Lys664fs					RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000393915.4_Frame_Shift_Ins_p.AK664fs|HMMR_ENST00000358715.3_Frame_Shift_Ins_p.AK663fs|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.AK648fs|HMMR_ENST00000432118.2_Frame_Shift_Ins_p.AK577fs	p.AK549fs			O75330	HMMR_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	17	2144_2145	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	663					A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Frame_Shift_Ins	INS	ENST00000358715.3	37	c.1647_1648insA	CCDS4362.1																																																																																				0.307	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		8	566						8	566	---	---	---	---
RRP36	88745	broad.mit.edu	37	6	42989434	42989451	+	In_Frame_Del	DEL	CGGGGCCCGACGTCCCCG	CGGGGCCCGACGTCCCCG	-	rs564567932|rs202053592	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr6:42989434_42989451delCGGGGCCCGACGTCCCCG	ENST00000244496.5	+	1	52_69	c.42_59delCGGGGCCCGACGTCCCCG	c.(40-60)gccggggcccgacgtccccgc>gcc	p.GARRPR15del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	15					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						gggccggggccggggcccgacgtccccgcggggcccgg	0.784														43	0.00858626	0.0	0.0447	5008	,	,		9842	0.0089		0.002	False		,,,				2504	0.001					ENST00000244496.5																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						c.(40-60)gcc>gc		ribosomal RNA processing 36 homolog (S. cerevisiae)				3,1373		1,1,686						3.5	0.0		dbSNP_129	3	28,2930		7,14,1458	no	coding	RRP36	NM_033112.2		8,15,2144	A1A1,A1R,RR		0.9466,0.218,0.7153				31,4303				SO:0001651	inframe_deletion	88745				ribosomal small subunit biogenesis|rRNA processing	nucleolus		g.chr6:42989434_42989451delCGGGGCCCGACGTCCCCG	BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"""chromosome 6 open reading frame 153"""	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.42_59delCGGGGCCCGACGTCCCCG	6.37:g.42989434_42989451delCGGGGCCCGACGTCCCCG	ENSP00000244496:p.Gly15_Arg20del						p.AGARRPR14del	NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN			1	52_69	+			14					Q9BRF6|Q9P0C8	In_Frame_Del	DEL	ENST00000244496.5	37	c.42_59delCGGGGCCCGACGTCCCCG	CCDS34453.1																																																																																				0.784	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112		7	13						7	13	---	---	---	---
PHIP	55023	broad.mit.edu	37	6	79655961	79655961	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr6:79655961delT	ENST00000275034.4	-	38	4554	c.4387delA	c.(4387-4389)aggfs	p.R1463fs	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1463					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TTTAAGATCCTTTTTTTCCTT	0.358																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(4387-4389)ggfs		pleckstrin homology domain interacting protein							150.0	155.0	153.0					6																	79655961		2203	4300	6503	SO:0001589	frameshift_variant	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79655961delT	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4387delA	6.37:g.79655961delT	ENSP00000275034:p.Arg1463fs					PHIP_ENST00000479165.1_5'UTR	p.R1463fs	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	38	4554	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1463					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Frame_Shift_Del	DEL	ENST00000275034.4	37	c.4387delA	CCDS4987.1																																																																																				0.358	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			7	707						7	707	---	---	---	---
GABRR2	2570	broad.mit.edu	37	6	89975427	89975429	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr6:89975427_89975429delAAG	ENST00000402938.3	-	7	925_927	c.792_794delCTT	c.(790-795)ttcttg>ttg	p.F264del	GABRR2_ENST00000602399.1_In_Frame_Del_p.F289del	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	264					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TGTTTGGAGCAAGAAGAAGAAGA	0.517																																						ENST00000402938.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21						c.(790-795)ttg>tt		gamma-aminobutyric acid (GABA) A receptor, rho 2																																				SO:0001651	inframe_deletion	2570				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89975427_89975429delAAG		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4091	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 2"""	137162	"""gamma-aminobutyric acid (GABA) receptor, rho 2"""			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.792_794delCTT	6.37:g.89975436_89975438delAAG	ENSP00000386029:p.Phe264del					GABRR2_ENST00000602399.1_In_Frame_Del_p.FL289del	p.FL264del			P28476	GBRR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0158)	7	925_927	-		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)	289					A2BDE4|Q9H153	In_Frame_Del	DEL	ENST00000402938.3	37	c.792_794delCTT	CCDS5020.3																																																																																				0.517	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3			8	294						8	294	---	---	---	---
MAP3K5	4217	broad.mit.edu	37	6	136888858	136888859	+	Frame_Shift_Ins	INS	-	-	CTCA	rs139070587		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr6:136888858_136888859insCTCA	ENST00000359015.4	-	26	4031_4032	c.3671_3672insTGAG	c.(3670-3672)agcfs	p.-1224fs	MAP3K5_ENST00000355845.4_Frame_Shift_Ins_p.-471fs	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5						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)		AACTGAGCGTGCTCACGCCTGA	0.475																																						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.(3670-3672)aacfs		mitogen-activated protein kinase kinase kinase 5																																				SO:0001589	frameshift_variant	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.chr6:136888858_136888859insCTCA	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.3668_3671dupTGAG	6.37:g.136888859_136888862dupCTCA	ENSP00000351908:p.Ser1224fs					MAP3K5_ENST00000355845.4_Frame_Shift_Ins_p.N471fs	p.N1224fs	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	26	4031_4032	-	Colorectal(23;0.24)		1224					A6NIA0|B4DGB2|Q5THN3|Q99461	Frame_Shift_Ins	INS	ENST00000359015.4	37	c.3671_3672insTGAG	CCDS5179.1																																																																																				0.475	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			66	105						66	105	---	---	---	---
CARD11	84433	broad.mit.edu	37	7	2963941	2963943	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:2963941_2963943delGGA	ENST00000396946.4	-	15	2267_2269	c.1864_1866delTCC	c.(1864-1866)tccdel	p.S622del		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	622					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGGATTGGTGGGAGGAGGAGGAG	0.616			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(1864-1866)del		caspase recruitment domain family, member 11																																				SO:0001651	inframe_deletion	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2963941_2963943delGGA	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1864_1866delTCC	7.37:g.2963950_2963952delGGA	ENSP00000380150:p.Ser622del						p.S622del	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	15	2267_2269	-		Ovarian(82;0.0115)	622					A4D1Z7|Q2NKN7|Q548H3	In_Frame_Del	DEL	ENST00000396946.4	37	c.1864_1866delTCC	CCDS5336.2																																																																																				0.616	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		7	448						7	448	---	---	---	---
HOXA1	3198	broad.mit.edu	37	7	27135314	27135316	+	In_Frame_Del	DEL	CGA	CGA	-	rs368428758|rs10951154|rs544314279	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:27135314_27135316delCGA	ENST00000343060.4	-	1	277_279	c.216_218delTCG	c.(214-219)catcgc>cac	p.R73del	HOTAIRM1_ENST00000425358.2_RNA|HOXA1_ENST00000355633.5_In_Frame_Del_p.R73del|HOTAIRM1_ENST00000495032.1_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000434063.3_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	73	Poly-His.		H -> R (frequent polymorphism in individuals of European or African origin; dbSNP:rs10951154). {ECO:0000269|PubMed:11091361, ECO:0000269|PubMed:14702039}.		abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						Ctgggggtggcgatggtggtggt	0.65											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		37	0.00738818	0.0	0.0144	5008	,	,		11776	0.001		0.0209	False		,,,				2504	0.0051					ENST00000343060.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(214-219)cac>ca		homeobox A1																																				SO:0001651	inframe_deletion	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27135314_27135316delCGA		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.216_218delTCG	7.37:g.27135314_27135316delCGA	ENSP00000343246:p.Arg73del		OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	792	HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_In_Frame_Del_p.HR72del	p.HR72del	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN			1	277_279	-			72			Poly-His.		A4D184|B2R8U7|O43363	In_Frame_Del	DEL	ENST00000343060.4	37	c.216_218delTCG	CCDS5401.1																																																																																				0.650	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			11	373						11	373	---	---	---	---
OGDH	4967	broad.mit.edu	37	7	44684936	44684936	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:44684936delT	ENST00000222673.5	+	3	275	c.233delT	c.(232-234)attfs	p.I78fs	OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs|OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	78					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.R81fs*19(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	TCATGGGACATTTTTTTTCGC	0.577																																						ENST00000222673.5																			1	Deletion - Frameshift(1)	p.R81fs*19(1)	breast(1)	breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(232-234)atfs		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)						127.0	121.0	123.0					7																	44684936		2203	4300	6503	SO:0001589	frameshift_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44684936delT	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.233delT	7.37:g.44684936delT	ENSP00000222673:p.Ile78fs					OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs|OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs	p.I78fs	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			3	275	+			78					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Frame_Shift_Del	DEL	ENST00000222673.5	37	c.233delT	CCDS34627.1																																																																																				0.577	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			12	856						12	856	---	---	---	---
CCT6P3	643180	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621				SNORA22_ENST00000384614.1_RNA|SNORA15_ENST00000384334.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		CTTTCTGTAACTTTTTTTTTTT	0.317																																						ENST00000426828.1																			0																																																			0							g.chr7:64528813_64528814insT			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64528824_64528824dupT								NR_033416.1						0	621	+									RNA	INS	ENST00000426828.1	37																																																																																						0.317	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			7	92						7	92	---	---	---	---
DTX2	113878	broad.mit.edu	37	7	76112249	76112249	+	Frame_Shift_Del	DEL	A	A	-	rs147779783	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:76112249delA	ENST00000324432.5	+	5	1203	c.693delA	c.(691-693)ccafs	p.P231fs	DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	231					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						AGCACCCCCCACACAGGACCG	0.657																																						ENST00000324432.5																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						c.(691-693)ccfs		deltex homolog 2 (Drosophila)							125.0	130.0	128.0					7																	76112249		2203	4300	6503	SO:0001589	frameshift_variant	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76112249delA		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.693delA	7.37:g.76112249delA	ENSP00000322885:p.Pro231fs					DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs	p.P231fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN			5	1203	+			231					Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Frame_Shift_Del	DEL	ENST00000324432.5	37	c.693delA	CCDS5587.1																																																																																				0.657	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			8	1745						8	1745	---	---	---	---
DPY19L2P2	349152	broad.mit.edu	37	7	102878163	102878164	+	RNA	INS	-	-	TAAAATAAAA	rs59775517|rs544508444	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:102878163_102878164insTAAAATAAAA	ENST00000312132.4	-	0	2866							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										accccagaacttaaaataaaaa	0.351														408	0.0814696	0.034	0.1254	5008	,	,		21467	0.0923		0.0537	False		,,,				2504	0.1319					ENST00000312132.4																			0																																																			0							g.chr7:102878163_102878164insTAAAATAAAA	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102878164_102878173dupTAAAATAAAA														0	2866	-								Q8N9V4|Q8ND62	RNA	INS	ENST00000312132.4	37																																																																																						0.351	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		8	53						8	53	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149518533	149518533	+	RNA	DEL	C	C	-	rs11353848		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr7:149518533delC	ENST00000378016.2	+	0	12602							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)			GAGGAGCAGTCCCAGAGCCAG	0.711																																						ENST00000378016.2																			0													SCO-spondin				326,3200		64,198,1501	4.0	5.0	5.0			3.0	1.0	7	dbSNP_120	5	1295,6157		261,773,2692	no	frameshift	SSPO	NM_198455.2		325,971,4193	A1A1,A1R,RR		17.3779,9.2456,14.7659			149518533	1621,9357	1809	3718	5527			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149518533delC	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.149518533delC										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	12602	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	DEL	ENST00000378016.2	37																																																																																						0.711	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				13	14						13	14	---	---	---	---
NPM2	10361	broad.mit.edu	37	8	21892020	21892021	+	Splice_Site	INS	-	-	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr8:21892020_21892021insA	ENST00000397940.1	+	7	1546_1547		c.e7-1		snoU13_ENST00000459495.1_RNA|NPM2_ENST00000518119.1_Splice_Site|NPM2_ENST00000289820.6_Splice_Site|NPM2_ENST00000381530.5_Splice_Site|NPM2_ENST00000521157.1_Splice_Site			Q86SE8	NPM2_HUMAN	nucleophosmin/nucleoplasmin 2						chromatin remodeling (GO:0006338)|embryo development (GO:0009790)|oocyte differentiation (GO:0009994)|positive regulation of catalytic activity (GO:0043085)|positive regulation of DNA replication (GO:0045740)|positive regulation of meiosis (GO:0045836)|protein homooligomerization (GO:0051260)|regulation of exit from mitosis (GO:0007096)|single fertilization (GO:0007338)	cytoplasmic chromatin (GO:0000789)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleic acid binding (GO:0003676)			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		TTGGTTCCCAGAAAAAAAAGCT	0.406																																						ENST00000397940.1																			0				large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.e7-1		nucleophosmin/nucleoplasmin 2																																				SO:0001630	splice_region_variant	10361				chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization	cytoplasmic chromatin|nuclear chromatin	histone binding|nucleic acid binding	g.chr8:21892020_21892021insA	AY262113	CCDS6018.1, CCDS75703.1	8p21.3	2009-08-27	2009-08-27		ENSG00000158806	ENSG00000158806			7930	protein-coding gene	gene with protein product		608073				12714744	Standard	NM_182795		Approved		uc003xae.3	Q86SE8	OTTHUMG00000131129	ENST00000397940.1:c.532-1->A	8.37:g.21892028_21892028dupA						NPM2_ENST00000521157.1_Splice_Site|NPM2_ENST00000518119.1_Splice_Site|NPM2_ENST00000381530.5_Splice_Site|NPM2_ENST00000289820.6_Splice_Site				Q86SE8	NPM2_HUMAN		Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)	7	1546_1547	+								B3KSU0|D3DSQ8|Q6NVH6	Splice_Site	INS	ENST00000397940.1	37		CCDS6018.1																																																																																				0.406	NPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253810.2	NM_182795	Intron	7	938						7	938	---	---	---	---
CNTNAP3B	728577	broad.mit.edu	37	9	43844265	43844265	+	Frame_Shift_Del	DEL	G	G	-	rs200487787	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:43844265delG	ENST00000377564.3	+	10	1992	c.1599delG	c.(1597-1599)gcgfs	p.A533fs		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	533	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGCAGGGGGCGCTGGGGAGTT	0.542													g|G|-|deletion	1256	0.250799	0.2352	0.2061	5008	,	,		15575	0.3968		0.174	False		,,,				2504	0.2321					ENST00000377564.3																			0				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						c.(1597-1599)gcfs		contactin associated protein-like 3B																																				SO:0001589	frameshift_variant	728577				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr9:43844265delG	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.1599delG	9.37:g.43844265delG	ENSP00000366787:p.Ala533fs						p.A533fs	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN			10	1992	+			533			Laminin G-like 2.		B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Frame_Shift_Del	DEL	ENST00000377564.3	37	c.1599delG	CCDS55312.1																																																																																				0.542	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			7	72						7	72	---	---	---	---
C9orf43	257169	broad.mit.edu	37	9	116187646	116187648	+	In_Frame_Del	DEL	GCA	GCA	-	rs374165893|rs371732185		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr9:116187646_116187648delGCA	ENST00000288462.4	+	10	1334_1336	c.888_890delGCA	c.(886-891)cggcag>cgg	p.Q304del	C9orf43_ENST00000374165.1_In_Frame_Del_p.Q304del	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	304	Gln-rich.									breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						agcagcagcggcagcagcagcag	0.557																																						ENST00000288462.4																			0				breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						c.(886-891)cgg>cg		chromosome 9 open reading frame 43				2,231,68,3961		0,0,0,2,0,0,231,2,64,1832						-2.8	0.0			63	18,338,431,7463		2,0,0,14,0,0,338,9,413,3349	no	codingComplex	C9orf43	NM_152786.1		2,0,0,16,0,0,569,11,477,5181	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		9.5394,7.0624,8.6957				20,569,499,11424				SO:0001651	inframe_deletion	257169							g.chr9:116187646_116187648delGCA	BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.888_890delGCA	9.37:g.116187655_116187657delGCA	ENSP00000288462:p.Gln304del					C9orf43_ENST00000374165.1_In_Frame_Del_p.RQ296del	p.RQ296del	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN			10	1334_1336	+			296			Gln-rich.			In_Frame_Del	DEL	ENST00000288462.4	37	c.888_890delGCA	CCDS6796.1																																																																																				0.557	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786		7	326						7	326	---	---	---	---
RUFY2	55680	broad.mit.edu	37	10	70156583	70156583	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr10:70156583delT	ENST00000602465.1	-	4	452	c.352delA	c.(352-354)atgfs	p.M118fs	RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000454950.2_Frame_Shift_Del_p.M60fs|RUFY2_ENST00000388768.2_Frame_Shift_Del_p.M153fs|RUFY2_ENST00000342616.4_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000472394.2_5'UTR			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	167	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TAATCGGCCATTTTTTTTTGC	0.398																																						ENST00000388768.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						c.(457-459)tgfs		RUN and FYVE domain containing 2							81.0	80.0	81.0					10																	70156583		1832	4087	5919	SO:0001589	frameshift_variant	55680					nucleus	metal ion binding	g.chr10:70156583delT	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.352delA	10.37:g.70156583delT	ENSP00000473462:p.Met118fs					RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000454950.2_Frame_Shift_Del_p.M60fs|RUFY2_ENST00000602465.1_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000342616.4_Frame_Shift_Del_p.M118fs	p.M153fs	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN			4	783	-			167			RUN.		B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Frame_Shift_Del	DEL	ENST00000602465.1	37	c.457delA																																																																																					0.398	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987		7	240						7	240	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-	rs201441910		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	986	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(2941-2946)gct>g		zinc finger, MIZ-type containing 1				27,4237		10,7,2115						4.7	1.0			109	38,8216		16,6,4105	no	coding	ZMIZ1	NM_020338.3		26,13,6220	A1A1,A1R,RR		0.4604,0.6332,0.5193				65,12453				SO:0001651	inframe_deletion	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81070787_81070789delCTC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2942_2944delCTC	10.37:g.81070796_81070798delCTC	ENSP00000334474:p.Pro986del					ZMIZ1_ENST00000446377.2_Intron	p.AP981del	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		24	3514_3516	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		981			Pro-rich.		Q5JSH9|Q7Z7E6	In_Frame_Del	DEL	ENST00000334512.5	37	c.2942_2944delCTC	CCDS7357.1																																																																																				0.635	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		9	746						9	746	---	---	---	---
SCD	6319	broad.mit.edu	37	10	102107836	102107838	+	In_Frame_Del	DEL	ACC	ACC	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr10:102107836_102107838delACC	ENST00000370355.2	+	2	424_426	c.43_45delACC	c.(43-45)accdel	p.T19del	RP11-34D15.2_ENST00000429420.1_RNA	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	19					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		TAGCTCCTATACCACCACCACCA	0.581																																					Colon(67;260 1459 9574 11663)	ENST00000370355.2																			0				endometrium(1)|large_intestine(3)|lung(5)	9						c.(43-45)del		stearoyl-CoA desaturase (delta-9-desaturase)																																				SO:0001651	inframe_deletion	6319				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr10:102107836_102107838delACC	AF097514	CCDS7493.1	10q23-q24	2013-01-25			ENSG00000099194	ENSG00000099194	1.14.19.1	"""Fatty acid desaturases"""	10571	protein-coding gene	gene with protein product	"""acyl-CoA desaturase"", ""fatty acid desaturase"", ""delta-9-desaturase"""	604031	"""stearoyl-CoA desaturase opposite strand"""	SCDOS		7909540, 10229681	Standard	NM_005063		Approved	FADS5	uc001kqy.3	O00767	OTTHUMG00000018906	ENST00000370355.2:c.43_45delACC	10.37:g.102107845_102107847delACC	ENSP00000359380:p.Thr19del						p.T19del	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)	2	424_426	+		Colorectal(252;0.0323)	19					B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	In_Frame_Del	DEL	ENST00000370355.2	37	c.43_45delACC	CCDS7493.1																																																																																				0.581	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049857.2	NM_005063		9	889						9	889	---	---	---	---
TRIM51HP	440041	broad.mit.edu	37	11	55065032	55065032	+	RNA	DEL	T	T	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr11:55065032delT	ENST00000526016.1	-	0	393					NR_038174.2				tripartite motif-containing 51H, pseudogene																		AAAGACTGCATTTTTTTTTAG	0.398																																						ENST00000526016.1																			0																																																			0							g.chr11:55065032delT			11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55065032delT								NR_038174.2						0	393	-									RNA	DEL	ENST00000526016.1	37																																																																																						0.398	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000391438.1			11	217						11	217	---	---	---	---
RTN3	10313	broad.mit.edu	37	11	63525788	63525788	+	3'UTR	DEL	T	T	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr11:63525788delT	ENST00000377819.5	+	0	3368				RTN3_ENST00000339997.4_3'UTR|RTN3_ENST00000341307.2_3'UTR|RTN3_ENST00000354497.4_Frame_Shift_Del_p.A190fs|C11orf95_ENST00000433688.1_lincRNA|RTN3_ENST00000356000.3_3'UTR|RTN3_ENST00000540798.1_3'UTR|RTN3_ENST00000537981.1_3'UTR	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3						apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CATTCCAAGCTTTTTTTTTAA	0.348																																						ENST00000354497.4																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(568-570)gcfs		reticulon 3							48.0	49.0	49.0					11																	63525788		2201	4298	6499	SO:0001624	3_prime_UTR_variant	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63525788delT	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.*115T>-	11.37:g.63525788delT						RTN3_ENST00000537981.1_3'UTR|RTN3_ENST00000339997.4_3'UTR|RTN3_ENST00000540798.1_3'UTR|RTN3_ENST00000341307.2_3'UTR|RTN3_ENST00000356000.3_3'UTR|RTN3_ENST00000377819.5_3'UTR	p.A190fs	NM_001265591.1	NP_001252520.1	O95197	RTN3_HUMAN			4	634	+			0					B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Frame_Shift_Del	DEL	ENST00000377819.5	37	c.570delT	CCDS58141.1																																																																																				0.348	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		7	205						7	205	---	---	---	---
STRAP	11171	broad.mit.edu	37	12	16047015	16047015	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr12:16047015delA	ENST00000419869.2	+	5	751	c.438delA	c.(436-438)atafs	p.I146fs	STRAP_ENST00000538352.1_Frame_Shift_Del_p.I52fs|STRAP_ENST00000025399.6_Frame_Shift_Del_p.I159fs	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	146					maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|spliceosomal snRNP assembly (GO:0000387)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				CTTCTGGTATAAAAAAAGCTC	0.294																																						ENST00000419869.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15						c.(436-438)atfs		serine/threonine kinase receptor associated protein							103.0	116.0	112.0					12																	16047015		2203	4300	6503	SO:0001589	frameshift_variant	11171				mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding	g.chr12:16047015delA	AB024327	CCDS8676.1	12p13.1	2013-01-10			ENSG00000023734	ENSG00000023734		"""WD repeat domain containing"""	30796	protein-coding gene	gene with protein product	"""Unr-interacting protein"""	605986					Standard	NM_007178		Approved	UNRIP, pt-wd, MAWD	uc001rdc.4	Q9Y3F4	OTTHUMG00000168791	ENST00000419869.2:c.438delA	12.37:g.16047015delA	ENSP00000392270:p.Ile146fs					STRAP_ENST00000538352.1_Frame_Shift_Del_p.I52fs|STRAP_ENST00000025399.6_Frame_Shift_Del_p.I159fs	p.I146fs	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN			5	751	+		Hepatocellular(102;0.121)	146					B2R5S5|B4DNJ6|Q5TZT4|Q9NTK0|Q9UQC8	Frame_Shift_Del	DEL	ENST00000419869.2	37	c.438delA	CCDS8676.1																																																																																				0.294	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401114.1	NM_007178		7	804						7	804	---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56559127	56559128	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr12:56559127_56559128insG	ENST00000267064.4	-	26	3199_3200	c.3113_3114insC	c.(3112-3114)ccafs	p.P1038fs	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000394023.3_Frame_Shift_Ins_p.P1069fs|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.P1069fs|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.P1069fs	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1038	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGGGAACCCCTGGTGGGACTGC	0.584																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(3205-3207)cggfs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2																																				SO:0001589	frameshift_variant	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56559127_56559128insG	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3114dupC	12.37:g.56559129_56559129dupG	ENSP00000267064:p.Pro1038fs					RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.R1069fs|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.R1038fs|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.R1069fs	p.R1069fs	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		27	3311_3312	-			1038			Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Frame_Shift_Ins	INS	ENST00000267064.4	37	c.3206_3207insC	CCDS8907.1																																																																																				0.584	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			9	319						9	319	---	---	---	---
R3HDM2	22864	broad.mit.edu	37	12	57674205	57674207	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr12:57674205_57674207delTGC	ENST00000347140.3	-	14	1626_1628	c.1236_1238delGCA	c.(1234-1239)cagcaa>caa	p.412_413QQ>Q	R3HDM2_ENST00000403821.2_In_Frame_Del_p.412_413QQ>Q|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000441731.2_In_Frame_Del_p.73_74QQ>Q|R3HDM2_ENST00000358907.2_In_Frame_Del_p.412_413QQ>Q|R3HDM2_ENST00000413953.2_In_Frame_Del_p.139_140QQ>Q|R3HDM2_ENST00000402412.1_In_Frame_Del_p.426_427QQ>Q			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	412	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGCAGGAAGTtgctgctgctgct	0.576																																						ENST00000402412.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1276-1281)caa>ca		R3H domain containing 2																																				SO:0001651	inframe_deletion	22864					nucleus	nucleic acid binding	g.chr12:57674205_57674207delTGC	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1236_1238delGCA	12.37:g.57674214_57674216delTGC	ENSP00000317903:p.Gln413del					R3HDM2_ENST00000393811.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000413953.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000441731.2_In_Frame_Del_p.QQ73del|R3HDM2_ENST00000347140.3_In_Frame_Del_p.QQ412del|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000403821.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000358907.2_In_Frame_Del_p.QQ412del	p.QQ426del			Q9Y2K5	R3HD2_HUMAN			14	1668_1670	-			412			Gln-rich.		Q2M1T9|Q3ZCT5	In_Frame_Del	DEL	ENST00000347140.3	37	c.1278_1280delGCA	CCDS8937.2																																																																																				0.576	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		11	393						11	393	---	---	---	---
TMEM19	55266	broad.mit.edu	37	12	72094757	72094757	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr12:72094757delT	ENST00000266673.5	+	6	1587	c.993delT	c.(991-993)ggtfs	p.G331fs		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	331						integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CTGCTTGGGGTTTTTGGCCCA	0.433																																						ENST00000266673.5																			0				large_intestine(1)|lung(8)	9						c.(991-993)ggfs		transmembrane protein 19							199.0	184.0	189.0					12																	72094757		2203	4300	6503	SO:0001589	frameshift_variant	55266					integral to membrane		g.chr12:72094757delT	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.993delT	12.37:g.72094757delT	ENSP00000266673:p.Gly331fs						p.G331fs	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN		GBM - Glioblastoma multiforme(134;0.044)	6	1587	+		Breast(359;0.0889)	331					B2RDL2|Q53FY3|Q9NV41	Frame_Shift_Del	DEL	ENST00000266673.5	37	c.993delT	CCDS9002.1																																																																																				0.433	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	NM_018279		8	1062						8	1062	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23912863	23912864	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr13:23912863_23912864insT	ENST00000382292.3	-	9	5424_5425	c.5151_5152insA	c.(5149-5154)aaatccfs	p.S1718fs	SACS_ENST00000382298.3_Frame_Shift_Ins_p.S1718fs|SACS_ENST00000402364.1_Frame_Shift_Ins_p.S968fs			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1718					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GAAGAGCAGGATTTTTTTTTAA	0.361																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(5149-5154)aacctgfs		spastic ataxia of Charlevoix-Saguenay (sacsin)				8,4252		0,8,2122						-11.1	0.0			42	7,8237		0,7,4115	no	frameshift	SACS	NM_014363.4		0,15,6237	A1A1,A1R,RR		0.0849,0.1878,0.12				15,12489				SO:0001589	frameshift_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23912863_23912864insT	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.5152dupA	13.37:g.23912872_23912872dupT	ENSP00000371729:p.Ser1718fs					SACS_ENST00000402364.1_Frame_Shift_Ins_p.NL967fs|SACS_ENST00000382292.3_Frame_Shift_Ins_p.NL1717fs	p.NL1717fs	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	5739_5740	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1717					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Frame_Shift_Ins	INS	ENST00000382292.3	37	c.5151_5152insA	CCDS9300.2																																																																																				0.361	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		7	250						7	250	---	---	---	---
RBM26	64062	broad.mit.edu	37	13	79918806	79918807	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr13:79918806_79918807insT	ENST00000438737.2	-	15	2621_2622	c.2181_2182insA	c.(2179-2184)aaacagfs	p.Q728fs	RBM26_ENST00000438724.1_Frame_Shift_Ins_p.Q704fs|RBM26_ENST00000267229.7_Frame_Shift_Ins_p.Q701fs			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	728					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GTACTTACCTGTTTTTTTTTCT	0.332																																						ENST00000438737.2																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(2179-2184)aaaggafs		RNA binding motif protein 26																																				SO:0001589	frameshift_variant	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79918806_79918807insT	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.2182dupA	13.37:g.79918815_79918815dupT	ENSP00000387531:p.Gln728fs					RBM26_ENST00000438724.1_Frame_Shift_Ins_p.G704fs|RBM26_ENST00000267229.7_Frame_Shift_Ins_p.G701fs	p.G728fs			Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	15	2621_2622	-		Acute lymphoblastic leukemia(28;0.0279)	728					B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Frame_Shift_Ins	INS	ENST00000438737.2	37	c.2181_2182insA																																																																																					0.332	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		11	187						11	187	---	---	---	---
TRAV9-2	28677	broad.mit.edu	37	14	22409533	22409539	+	RNA	DEL	CTCTCTC	CTCTCTC	-	rs374912343|rs371270332|rs2178778|rs587678559|rs201742006|rs367992314	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr14:22409533_22409539delCTCTCTC	ENST00000390441.2	+	0	102									T cell receptor alpha variable 9-2																		ctctctctctctctctctTTTTTTTTT	0.415																																						ENST00000390441.2																			0																																																			0							g.chr14:22409533_22409539delCTCTCTC	AE000659		14q11.2	2012-02-07			ENSG00000211793	ENSG00000211793		"""T cell receptors / TRA locus"""	12154	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170637		14.37:g.22409533_22409539delCTCTCTC														0	102	+									RNA	DEL	ENST00000390441.2	37																																																																																						0.415	TRAV9-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409885.1	NG_001332		9	34						9	34	---	---	---	---
IRF9	10379	broad.mit.edu	37	14	24633132	24633134	+	In_Frame_Del	DEL	AGC	AGC	-	rs199740615		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr14:24633132_24633134delAGC	ENST00000396864.3	+	5	828_830	c.541_543delAGC	c.(541-543)agcdel	p.S187del	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_In_Frame_Del_p.S85del	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	187	Poly-Ser.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		AGACATTGGGagcagcagcagca	0.567																																						ENST00000396864.3																			0				NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(541-543)del		interferon regulatory factor 9				167,4097		0,167,1965						-2.5	0.0			53	342,7912		0,342,3785	no	coding	IRF9	NM_006084.4		0,509,5750	A1A1,A1R,RR		4.1434,3.9165,4.0661				509,12009				SO:0001651	inframe_deletion	10379				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr14:24633132_24633134delAGC	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"""interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa"""	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.541_543delAGC	14.37:g.24633141_24633143delAGC	ENSP00000380073:p.Ser187del					RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_In_Frame_Del_p.S85del	p.S187del	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN		GBM - Glioblastoma multiforme(265;0.00853)	5	828_830	+			187			Poly-Ser.		D3DS61	In_Frame_Del	DEL	ENST00000396864.3	37	c.541_543delAGC	CCDS9615.1																																																																																				0.567	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2			8	309						8	309	---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72190482	72190484	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr14:72190482_72190484delTCC	ENST00000555818.1	+	16	4738_4740	c.4390_4392delTCC	c.(4390-4392)tccdel	p.S1468del	SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1468	Ser-rich.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ctcctcctcttcctcctcctcct	0.552																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(4390-4392)del		signal-induced proliferation-associated 1 like 1																																				SO:0001651	inframe_deletion	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72190482_72190484delTCC	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4390_4392delTCC	14.37:g.72190491_72190493delTCC	ENSP00000450832:p.Ser1468del					SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del	p.S1468del	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	16	4738_4740	+			1468			Ser-rich.		J3KP19|O95321|Q9UDU4|Q9UNU4	In_Frame_Del	DEL	ENST00000555818.1	37	c.4390_4392delTCC	CCDS9807.1																																																																																				0.552	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		8	712						8	712	---	---	---	---
SYNE3	161176	broad.mit.edu	37	14	95921888	95921890	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr14:95921888_95921890delCTC	ENST00000334258.5	-	5	975_977	c.961_963delGAG	c.(961-963)gagdel	p.E321del	SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	321					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CCCGCAGCCGCTCCTCCTCCTCC	0.616																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(961-963)del		spectrin repeat containing, nuclear envelope family member 3																																				SO:0001651	inframe_deletion	161176							g.chr14:95921888_95921890delCTC	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.961_963delGAG	14.37:g.95921897_95921899delCTC	ENSP00000334308:p.Glu321del					SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del	p.E321del	NM_152592.3	NP_689805.3					5	975_977	-								A6H8H3|Q86SX5|Q8N7G8	In_Frame_Del	DEL	ENST00000334258.5	37	c.961_963delGAG	CCDS9935.1																																																																																				0.616	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		10	635						10	635	---	---	---	---
IGHV4-31	28396	broad.mit.edu	37	14	106805656	106805656	+	RNA	DEL	G	G	-	rs112628447	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr14:106805656delG	ENST00000438142.2	-	0	60									immunoglobulin heavy variable 4-31																		TTCTTGCACAGGAGGTCCAGG	0.502													|||unknown(ALL_OTHER_Ns)	52	0.0103834	0.028	0.0014	5008	,	,		9918	0.0119		0.0	False		,,,				2504	0.002					ENST00000438142.2																			0																	219,3243		9,201,1521	47.0	65.0	59.0			0.1	0.0	14	dbSNP_132	61	427,7347		23,381,3483	no	intergenic				32,582,5004	A1A1,A1R,RR		5.4927,6.3258,5.7494			106805656	646,10590	1803	4060	5863			0							g.chr14:106805656delG	L10098		14q32.33	2012-02-08			ENSG00000231475	ENSG00000231475		"""Immunoglobulins / IGH locus"""	5649	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152097		14.37:g.106805656delG														0	60	-									RNA	DEL	ENST00000438142.2	37																																																																																						0.502	IGHV4-31-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325194.1	NG_001019		7	236						7	236	---	---	---	---
UBN1	29855	broad.mit.edu	37	16	4910691	4910693	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr16:4910691_4910693delAGA	ENST00000396658.4	+	6	1401_1403	c.698_700delAGA	c.(697-702)gagaag>gag	p.K238del	UBN1_ENST00000262376.6_In_Frame_Del_p.K238del|UBN1_ENST00000545171.1_In_Frame_Del_p.K238del|UBN1_ENST00000590769.1_In_Frame_Del_p.K238del	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	238	Lys-rich.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K234E(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GCCAGTAAGGAGAAGAAGAAGAA	0.453																																						ENST00000396658.4																			1	Substitution - Missense(1)	p.K234E(1)	large_intestine(1)	NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(697-702)gag>g		ubinuclein 1																																				SO:0001651	inframe_deletion	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4910691_4910693delAGA	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.698_700delAGA	16.37:g.4910700_4910702delAGA	ENSP00000379894:p.Lys238del					UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del|UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del|UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del	p.EK233del	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			6	1401_1403	+			233			Lys-rich.		B7Z6D3|D3DUE8|Q13079|Q9P1P7	In_Frame_Del	DEL	ENST00000396658.4	37	c.698_700delAGA	CCDS10525.1																																																																																				0.453	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		14	1246						14	1246	---	---	---	---
NPIPA1	9284	broad.mit.edu	37	16	15045758	15045759	+	Frame_Shift_Ins	INS	-	-	GT	rs573038613	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr16:15045758_15045759insGT	ENST00000328085.6	+	8	929_930	c.929_930insGT	c.(928-933)gagtgtfs	p.EC310fs	NPIPA1_ENST00000472413.1_3'UTR	NM_006985.2	NP_008916.2	Q9UND3	NPIA1_HUMAN	nuclear pore complex interacting protein family, member A1	310	Pro-rich.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	nuclear pore (GO:0005643)											ACACCTCCCGAGTGTCTGCTCA	0.559																																						ENST00000328085.6																			0											c.(928-930)gtgfs		nuclear pore complex interacting protein family, member A1																																				SO:0001589	frameshift_variant	9284							g.chr16:15045758_15045759insGT	AC002045	CCDS10557.1	16p13.11	2013-06-11	2013-06-11	2013-06-11	ENSG00000183426	ENSG00000183426			7909	protein-coding gene	gene with protein product		606406	"""nuclear pore complex interacting protein"""	NPIP		11586358, 18055785	Standard	NM_006985		Approved	morpheus	uc002dcy.4	Q9UND3	OTTHUMG00000090663	ENST00000328085.6:c.932_933dupGT	16.37:g.15045761_15045762dupGT	ENSP00000331843:p.Glu310fs					NPIPA1_ENST00000472413.1_3'UTR	p.V310fs	NM_006985.2	NP_008916.2					8	929_930	+								O15102	Frame_Shift_Ins	INS	ENST00000328085.6	37	c.929_930insGT	CCDS10557.1																																																																																				0.559	NPIPA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207326.2	NM_006985		7	620						7	620	---	---	---	---
TNRC6A	27327	broad.mit.edu	37	16	24807240	24807240	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr16:24807240delA	ENST00000395799.3	+	9	3670	c.3541delA	c.(3541-3543)aaafs	p.K1182fs	TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1182	Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCTGAGTGGCAAAAAAAGGAG	0.398																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(3541-3543)aafs		trinucleotide repeat containing 6A							243.0	224.0	231.0					16																	24807240		2197	4300	6497	SO:0001589	frameshift_variant	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24807240delA	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.3541delA	16.37:g.24807240delA	ENSP00000379144:p.Lys1182fs					TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs	p.K1182fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	9	3670	+			1182			Sufficient for interaction with EIF2C1 and EIF2C4.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Frame_Shift_Del	DEL	ENST00000395799.3	37	c.3541delA	CCDS10624.2																																																																																				0.398	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		11	1012						11	1012	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72821594	72821596	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr16:72821594_72821596delGCC	ENST00000268489.5	-	10	11251_11253	c.10579_10581delGGC	c.(10579-10581)ggcdel	p.G3527del	RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_In_Frame_Del_p.G2613del|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3527	Poly-Gly.		G -> GGG.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGTGGTACGAgccgccgccgccg	0.69																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10579-10581)del		zinc finger homeobox 3																																				SO:0001651	inframe_deletion	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821594_72821596delGCC	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10579_10581delGGC	16.37:g.72821603_72821605delGCC	ENSP00000268489:p.Gly3527del					AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_In_Frame_Del_p.G2613del	p.G3527del	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11251_11253	-		Ovarian(137;0.13)	3527		G -> GGG.	Poly-Gly.		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	ENST00000268489.5	37	c.10579_10581delGGC	CCDS10908.1																																																																																				0.690	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		13	418						13	418	---	---	---	---
TRPV2	51393	broad.mit.edu	37	17	16335490	16335492	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr17:16335490_16335492delTGC	ENST00000338560.7	+	12	2264_2266	c.1865_1867delTGC	c.(1864-1869)gtgctg>gtg	p.L627del	TRPV2_ENST00000577397.1_In_Frame_Del_p.L197del|TRPV2_ENST00000583241.1_3'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	627					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CGCGGCATGGTGCTGCTGCTGCT	0.596																																						ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(1864-1869)gtg>g		transient receptor potential cation channel, subfamily V, member 2																																				SO:0001651	inframe_deletion	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16335490_16335492delTGC	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.1865_1867delTGC	17.37:g.16335499_16335501delTGC	ENSP00000342222:p.Leu627del					TRPV2_ENST00000577397.1_In_Frame_Del_p.VL192del|TRPV2_ENST00000583241.1_3'UTR	p.VL622del	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	12	2264_2266	+			622					A6NML2|A8K0Z0|Q9Y670	In_Frame_Del	DEL	ENST00000338560.7	37	c.1865_1867delTGC	CCDS32576.1																																																																																				0.596	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		10	285						10	285	---	---	---	---
HOXB2	3212	broad.mit.edu	37	17	46622130	46622132	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr17:46622130_46622132delAGG	ENST00000330070.4	-	1	1309_1311	c.142_144delCCT	c.(142-144)cctdel	p.P48del	HOXB-AS1_ENST00000508688.1_RNA|HOXB2_ENST00000504772.3_5'Flank|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000435312.1_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	48					anterior/posterior pattern specification (GO:0009952)|blood circulation (GO:0008015)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|neural nucleus development (GO:0048857)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						TTTGCTCGAAAGGAGGAGGAGGA	0.596																																						ENST00000330070.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						c.(142-144)del		homeobox B2																																				SO:0001651	inframe_deletion	3212				blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46622130_46622132delAGG		CCDS11527.1	17q21.32	2012-02-22	2005-12-22		ENSG00000173917	ENSG00000173917		"""Homeoboxes / ANTP class : HOXL subclass"""	5113	protein-coding gene	gene with protein product		142967	"""homeo box B2"""	HOX2, HOX2H		1973146, 1358459	Standard	XM_005257276		Approved		uc002inm.3	P14652	OTTHUMG00000159930	ENST00000330070.4:c.142_144delCCT	17.37:g.46622139_46622141delAGG	ENSP00000331741:p.Pro48del					HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000504972.3_RNA	p.P48del	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN			1	1309_1311	-			48					P10913|P17485	In_Frame_Del	DEL	ENST00000330070.4	37	c.142_144delCCT	CCDS11527.1																																																																																				0.596	HOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358384.2			7	357						7	357	---	---	---	---
COIL	8161	broad.mit.edu	37	17	55028016	55028016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr17:55028016delT	ENST00000240316.4	-	2	621	c.587delA	c.(586-588)aagfs	p.K196fs		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	196	Lys-rich (basic).					Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					ATTCTTAGCCTTTTTTTTATA	0.393																																						ENST00000240316.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15						c.(586-588)agfs		coilin							141.0	132.0	135.0					17																	55028016		2203	4300	6503	SO:0001589	frameshift_variant	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55028016delT	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.587delA	17.37:g.55028016delT	ENSP00000240316:p.Lys196fs						p.K196fs	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN			2	621	-	Breast(9;6.15e-08)		196			Lys-rich (basic).		B2R931	Frame_Shift_Del	DEL	ENST00000240316.4	37	c.587delA	CCDS11592.1																																																																																				0.393	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			10	616						10	616	---	---	---	---
RNF43	54894	broad.mit.edu	37	17	56492756	56492757	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr17:56492756_56492757delCA	ENST00000584437.1	-	1	2137_2138	c.182_183delTG	c.(181-183)ctgfs	p.L61fs	RNF43_ENST00000581868.1_Intron|RNF43_ENST00000500597.2_Frame_Shift_Del_p.L61fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.L61fs|RNF43_ENST00000577716.1_Frame_Shift_Del_p.L61fs|RNF43_ENST00000580014.1_5'Flank|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Frame_Shift_Del_p.L61fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	61					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAGTGAGATTCAGTTTTCCTGT	0.426																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(181-183)cfs		ring finger protein 43																																				SO:0001589	frameshift_variant	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56492756_56492757delCA		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.182_183delTG	17.37:g.56492756_56492757delCA	ENSP00000463069:p.Leu61fs					RNF43_ENST00000583753.1_Frame_Shift_Del_p.L61fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Frame_Shift_Del_p.L61fs|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000500597.2_Frame_Shift_Del_p.L61fs|RNF43_ENST00000407977.2_Frame_Shift_Del_p.L61fs	p.L61fs			Q68DV7	RNF43_HUMAN			1	2137_2138	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		61					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Frame_Shift_Del	DEL	ENST00000584437.1	37	c.182_183delTG	CCDS11607.1																																																																																				0.426	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		308	29						308	29	---	---	---	---
TRAPPC8	22878	broad.mit.edu	37	18	29453417	29453418	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr18:29453417_29453418insA	ENST00000283351.4	-	14	2372_2373	c.2037_2038insT	c.(2035-2040)tttggcfs	p.G680fs	TRAPPC8_ENST00000582539.1_Frame_Shift_Ins_p.G626fs	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	680					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTGTCATGGCCAAAAAAAACCC	0.356																																						ENST00000283351.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2035-2040)ttgccafs		trafficking protein particle complex 8																																				SO:0001589	frameshift_variant	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29453417_29453418insA	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.2038dupT	18.37:g.29453425_29453425dupA	ENSP00000283351:p.Gly680fs					TRAPPC8_ENST00000582539.1_Frame_Shift_Ins_p.LP625fs	p.LP679fs	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN			14	2372_2373	-			679					A0JP15|B3KME5|Q9H0L2	Frame_Shift_Ins	INS	ENST00000283351.4	37	c.2037_2038insT	CCDS11901.1																																																																																				0.356	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		7	176						7	176	---	---	---	---
HMHA1	23526	broad.mit.edu	37	19	1073174	1073175	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:1073174_1073175insC	ENST00000313093.2	+	3	679_680	c.448_449insC	c.(448-450)gccfs	p.A150fs	HMHA1_ENST00000536472.1_5'UTR|HMHA1_ENST00000539243.2_Frame_Shift_Ins_p.A166fs|HMHA1_ENST00000590214.1_Frame_Shift_Ins_p.A177fs|HMHA1_ENST00000543365.1_Frame_Shift_Ins_p.A33fs|HMHA1_ENST00000586866.1_Frame_Shift_Ins_p.A154fs|HMHA1_ENST00000592335.1_Frame_Shift_Ins_p.P31fs	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	150					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCCCGCGGGCCCACGAGTGC	0.658																																						ENST00000313093.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.(448-450)ccafs		histocompatibility (minor) HA-1																																				SO:0001589	frameshift_variant	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1073174_1073175insC	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.451dupC	19.37:g.1073177_1073177dupC	ENSP00000316772:p.Ala150fs					HMHA1_ENST00000539243.2_Frame_Shift_Ins_p.P166fs|HMHA1_ENST00000536472.1_5'UTR|HMHA1_ENST00000590214.1_Frame_Shift_Ins_p.P177fs|HMHA1_ENST00000592335.1_Frame_Shift_Ins_p.H31fs|HMHA1_ENST00000543365.1_Frame_Shift_Ins_p.P33fs|HMHA1_ENST00000586866.1_Frame_Shift_Ins_p.P154fs	p.P150fs	NM_012292.3	NP_036424.2	Q92619	HMHA1_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)	3	679_680	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	150					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Frame_Shift_Ins	INS	ENST00000313093.2	37	c.448_449insC	CCDS32863.1																																																																																				0.658	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			8	443						8	443	---	---	---	---
LILRB2	10288	broad.mit.edu	37	19	54780707	54780709	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr19:54780707_54780709delGAG	ENST00000391749.4	-	10	1706_1708	c.1435_1437delCTC	c.(1435-1437)ctcdel	p.L479del	LILRB2_ENST00000391748.1_In_Frame_Del_p.L478del|LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	479					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)	p.L479L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ggatgaggaagaggaggaggagg	0.611																																						ENST00000391748.1																			1	Substitution - coding silent(1)	p.L479L(1)	lung(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1432-1434)del		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2																																				SO:0001651	inframe_deletion	0				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54780707_54780709delGAG	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1435_1437delCTC	19.37:g.54780716_54780718delGAG	ENSP00000375629:p.Leu479del					LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000391749.4_In_Frame_Del_p.L479del|LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del	p.L478del	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	10	1559_1561	-	Ovarian(34;0.19)		479					A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	In_Frame_Del	DEL	ENST00000391749.4	37	c.1432_1434delCTC	CCDS12886.1																																																																																				0.611	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			7	451						7	451	---	---	---	---
CSRP2BP	57325	broad.mit.edu	37	20	18142695	18142695	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr20:18142695delA	ENST00000435364.3	+	5	1255	c.914delA	c.(913-915)gaafs	p.E305fs	CSRP2BP_ENST00000377681.3_Frame_Shift_Del_p.E304fs|CSRP2BP_ENST00000489634.2_Frame_Shift_Del_p.E177fs	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	305					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GTGATTCTGGAAAAAGGCGAA	0.537																																						ENST00000278816.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						c.(913-915)gafs		CSRP2 binding protein							118.0	134.0	129.0					20																	18142695		2203	4300	6503	SO:0001589	frameshift_variant	57325				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity	g.chr20:18142695delA	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.914delA	20.37:g.18142695delA	ENSP00000392318:p.Glu305fs					CSRP2BP_ENST00000489634.2_Frame_Shift_Del_p.E177fs|CSRP2BP_ENST00000435364.2_Frame_Shift_Del_p.E305fs|CSRP2BP_ENST00000377681.2_Frame_Shift_Del_p.E304fs	p.E305fs			Q9H8E8	CSR2B_HUMAN			6	1564	+			305					A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Frame_Shift_Del	DEL	ENST00000435364.3	37	c.914delA	CCDS13133.1																																																																																				0.537	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		9	1144						9	1144	---	---	---	---
ADNP	23394	broad.mit.edu	37	20	49508203	49508204	+	Frame_Shift_Ins	INS	-	-	T	rs6096163		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr20:49508203_49508204insT	ENST00000396029.3	-	5	3614_3615	c.3047_3048insA	c.(3046-3048)aagfs	p.K1016fs	ADNP_ENST00000396032.3_Frame_Shift_Ins_p.K1016fs|ADNP_ENST00000349014.3_Frame_Shift_Ins_p.K1016fs|ADNP_ENST00000371602.4_Frame_Shift_Ins_p.K1016fs	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	1016					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						GCATGGTAGCCTTTTTTTTGGC	0.46																																						ENST00000396029.3																			0				NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						c.(3046-3048)agcfs		activity-dependent neuroprotector homeobox																																				SO:0001589	frameshift_variant	23394					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:49508203_49508204insT	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.3048dupA	20.37:g.49508211_49508211dupT	ENSP00000379346:p.Lys1016fs					ADNP_ENST00000396032.3_Frame_Shift_Ins_p.S1016fs|ADNP_ENST00000349014.3_Frame_Shift_Ins_p.S1016fs|ADNP_ENST00000371602.4_Frame_Shift_Ins_p.S1016fs	p.S1016fs	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN			5	3614_3615	-			1016					E1P5Y2|O94881|Q5BKU2|Q9UG34	Frame_Shift_Ins	INS	ENST00000396029.3	37	c.3047_3048insA	CCDS13433.1																																																																																				0.460	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		13	792						13	792	---	---	---	---
SCAF4	57466	broad.mit.edu	37	21	33044257	33044259	+	In_Frame_Del	DEL	GCT	GCT	-	rs369631764		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr21:33044257_33044259delGCT	ENST00000286835.7	-	20	3279_3281	c.2897_2899delAGC	c.(2896-2901)cagcca>cca	p.Q966del	SCAF4_ENST00000399804.1_In_Frame_Del_p.Q944del|SCAF4_ENST00000434667.3_In_Frame_Del_p.Q951del	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	966	Poly-Gln.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GATGGTGgtggctgctgctgctg	0.581																																						ENST00000286835.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2896-2901)cca>c		SR-related CTD-associated factor 4																																				SO:0001651	inframe_deletion	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33044257_33044259delGCT	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.2897_2899delAGC	21.37:g.33044266_33044268delGCT	ENSP00000286835:p.Gln966del					SCAF4_ENST00000399804.1_In_Frame_Del_p.QP944del|SCAF4_ENST00000434667.3_In_Frame_Del_p.QP951del	p.QP966del	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN			20	3279_3281	-			966			Poly-Gln.		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	In_Frame_Del	DEL	ENST00000286835.7	37	c.2897_2899delAGC	CCDS33537.1																																																																																				0.581	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		16	432						16	432	---	---	---	---
PTTG1IP	754	broad.mit.edu	37	21	46276194	46276196	+	In_Frame_Del	DEL	GCA	GCA	-	rs375347383		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr21:46276194_46276196delGCA	ENST00000330938.3	-	4	581_583	c.361_363delTGC	c.(361-363)tgcdel	p.C121del	PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del|PTTG1IP_ENST00000445724.2_Intron	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	121	Poly-Cys.				multicellular organismal development (GO:0007275)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)			ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		TCTTCCTCCTGCAGCAGCAGCAG	0.616																																						ENST00000330938.3																			0				ovary(1)|prostate(1)	2						c.(361-363)del		pituitary tumor-transforming 1 interacting protein																																				SO:0001651	inframe_deletion	754				protein import into nucleus	cytoplasm|integral to membrane|nucleus		g.chr21:46276194_46276196delGCA	AF149785	CCDS13715.1, CCDS68221.1	21q22.3	2008-07-04			ENSG00000183255	ENSG00000183255			13524	protein-coding gene	gene with protein product		603784		C21orf3, C21orf1		9570958, 10830953	Standard	NM_004339		Approved	PBF	uc002zgb.2	P53801	OTTHUMG00000090254	ENST00000330938.3:c.361_363delTGC	21.37:g.46276203_46276205delGCA	ENSP00000328325:p.Cys121del					PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del	p.C121del	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN		Colorectal(79;0.0659)	4	581_583	-			121			Poly-Cys.		B2RDP7|D3DSL9|Q9NS09	In_Frame_Del	DEL	ENST00000330938.3	37	c.361_363delTGC	CCDS13715.1																																																																																				0.616	PTTG1IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206553.1			10	279						10	279	---	---	---	---
EIF4ENIF1	56478	broad.mit.edu	37	22	31884692	31884693	+	Frame_Shift_Ins	INS	-	-	TCTCCTA	rs148554829|rs3834682	byFrequency	TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr22:31884692_31884693insTCTCCTA	ENST00000397525.1	-	2	235_236	c.12_13insTAGGAGA	c.(10-15)agaagtfs	p.S5fs	EIF4ENIF1_ENST00000397523.1_Frame_Shift_Ins_p.S5fs|EIF4ENIF1_ENST00000344710.5_Frame_Shift_Ins_p.S5fs|EIF4ENIF1_ENST00000330125.5_Frame_Shift_Ins_p.S5fs	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	5						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCACCCATACTTCTCCTATCCA	0.455																																						ENST00000397525.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(10-15)aggtatfs		eukaryotic translation initiation factor 4E nuclear import factor 1																																				SO:0001589	frameshift_variant	56478					nucleus	protein binding|protein transporter activity	g.chr22:31884692_31884693insTCTCCTA	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.6_12dupTAGGAGA	22.37:g.31884693_31884699dupTCTCCTA	ENSP00000380659:p.Ser5fs					EIF4ENIF1_ENST00000330125.5_Frame_Shift_Ins_p.RY4fs|EIF4ENIF1_ENST00000397523.1_Frame_Shift_Ins_p.RY4fs|EIF4ENIF1_ENST00000344710.5_Frame_Shift_Ins_p.RY4fs	p.RY4fs	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN			2	235_236	-			4					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Frame_Shift_Ins	INS	ENST00000397525.1	37	c.12_13insTAGGAGA	CCDS13898.1																																																																																				0.455	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		52	213						52	213	---	---	---	---
BIK	638	broad.mit.edu	37	22	43525245	43525247	+	In_Frame_Del	DEL	GCT	GCT	-	rs542081559		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chr22:43525245_43525247delGCT	ENST00000216115.2	+	5	480_482	c.417_419delGCT	c.(415-420)gcgctg>gcg	p.L144del		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	144	Leucine-zipper. {ECO:0000255}.				apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|male gonad development (GO:0008584)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				tgctgctggcgctgctgctgctg	0.724																																						ENST00000216115.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5						c.(415-420)gcg>gc		BCL2-interacting killer (apoptosis-inducing)				9,134,3841		1,0,7,18,98,1868						-8.8	0.0			26	9,256,7523		1,0,7,46,164,3676	no	codingComplex	BIK	NM_001197.4		2,0,14,64,262,5544	A1A1,A1A2,A1R,A2A2,A2R,RR		3.4027,3.5894,3.4659				18,390,11364				SO:0001651	inframe_deletion	638				apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane		g.chr22:43525245_43525247delGCT	U34584	CCDS14044.1	22q13.31	2014-03-07			ENSG00000100290	ENSG00000100290			1051	protein-coding gene	gene with protein product		603392				7478623, 10591208	Standard	NM_001197		Approved	NBK	uc003bdk.3	Q13323	OTTHUMG00000150703	ENST00000216115.2:c.417_419delGCT	22.37:g.43525254_43525256delGCT	ENSP00000216115:p.Leu144del						p.AL139del	NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN			5	480_482	+		Ovarian(80;0.0694)	139			Leucine-zipper (Potential).		Q16582|Q6FH93	In_Frame_Del	DEL	ENST00000216115.2	37	c.417_419delGCT	CCDS14044.1																																																																																				0.724	BIK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319676.1	NM_001197		7	354						7	354	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			10	33						10	33	---	---	---	---
ARMCX3	51566	broad.mit.edu	37	X	100880152	100880154	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chrX:100880152_100880154delTGA	ENST00000341189.4	+	5	1049_1051	c.183_185delTGA	c.(181-186)tctgat>tct	p.D66del	ARMCX3_ENST00000471229.2_In_Frame_Del_p.D66del|RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3-AS1_ENST00000454228.1_RNA|ARMCX3_ENST00000537169.1_In_Frame_Del_p.D66del	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	66					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						ATGACTGGTCTGATGATGATGAT	0.517																																						ENST00000341189.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(181-186)tct>tc		armadillo repeat containing, X-linked 3																																				SO:0001651	inframe_deletion	51566					integral to membrane	binding	g.chrX:100880152_100880154delTGA	AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"""Armadillo repeat containing"""	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.183_185delTGA	X.37:g.100880161_100880163delTGA	ENSP00000340672:p.Asp66del					ARMCX3_ENST00000537169.1_In_Frame_Del_p.SD61del|ARMCX3_ENST00000471229.2_In_Frame_Del_p.SD61del	p.SD61del	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN			5	1049_1051	+			61					Q53HC6|Q7LCF5|Q9NPE4	In_Frame_Del	DEL	ENST00000341189.4	37	c.183_185delTGA	CCDS14489.1																																																																																				0.517	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	NM_016607		8	557						8	557	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140994639	140994641	+	In_Frame_Del	DEL	CTC	CTC	-	rs372076984|rs144357389		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chrX:140994639_140994641delCTC	ENST00000285879.4	+	4	1735_1737	c.1449_1451delCTC	c.(1447-1452)agctcc>agc	p.483_484SS>S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	483										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCTCCTCCTCCTCC	0.473										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1447-1452)agc>ag		melanoma antigen family C, 1																																				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994639_140994641delCTC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1449_1451delCTC	X.37:g.140994648_140994650delCTC	ENSP00000285879:p.Ser489del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.SS487del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1735_1737	+	Acute lymphoblastic leukemia(192;6.56e-05)		487					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.1449_1451delCTC	CCDS35417.1																																																																																				0.473	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		9	765						9	765	---	---	---	---
MAMLD1	10046	broad.mit.edu	37	X	149639325	149639327	+	In_Frame_Del	DEL	CAG	CAG	-	rs374739932|rs374561693		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chrX:149639325_149639327delCAG	ENST00000370401.2	+	4	1790_1792	c.1480_1482delCAG	c.(1480-1482)cagdel	p.Q502del	MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	502	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532																																						ENST00000370401.2																			3	Substitution - coding silent(3)	p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)	kidney(3)	breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1480-1482)del		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639325_149639327delCAG	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1480_1482delCAG	X.37:g.149639334_149639336delCAG	ENSP00000359428:p.Gln502del					MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000455522.2_5'UTR	p.Q502del			Q13495	MAMD1_HUMAN			4	1790_1792	+	Acute lymphoblastic leukemia(192;6.56e-05)		502			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1480_1482delCAG	CCDS14693.2																																																																																				0.532	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		10	159						10	159	---	---	---	---
MAMLD1	10046	broad.mit.edu	37	X	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chrX:149639633_149639635delGCA	ENST00000370401.2	+	4	2098_2100	c.1788_1790delGCA	c.(1786-1791)ctgcag>ctg	p.Q606del	MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.Q87del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q606del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q581del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	606	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.611																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1786-1791)ctg>ct		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639633_149639635delGCA	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1788_1790delGCA	X.37:g.149639642_149639644delGCA	ENSP00000359428:p.Gln606del					MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del	p.LQ596del			Q13495	MAMD1_HUMAN			4	2098_2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		596			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1788_1790delGCA	CCDS14693.2																																																																																				0.611	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		9	226						9	226	---	---	---	---
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433																																						ENST00000370357.4																			2	Substitution - coding silent(2)	p.A229A(2)	lung(2)	breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(685-687)del		PAS domain containing 1																																				SO:0001651	inframe_deletion	139135					nucleus	signal transducer activity	g.chrX:150817142_150817144delGCT	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.685_687delGCT	X.37:g.150817151_150817153delGCT	ENSP00000359382:p.Ala236del						p.A236del	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			9	930_932	+	Acute lymphoblastic leukemia(192;6.56e-05)		236			Poly-Ala.		Q3MNE0|Q69HD7|Q8N7X9	In_Frame_Del	DEL	ENST00000370357.4	37	c.685_687delGCT	CCDS35431.1																																																																																				0.433	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		7	379						7	379	---	---	---	---
PLXNA3	55558	broad.mit.edu	37	X	153688564	153688565	+	Frame_Shift_Ins	INS	-	-	G	rs375310385		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chrX:153688564_153688565insG	ENST00000369682.3	+	2	216_217	c.41_42insG	c.(40-45)gtggggfs	p.VG14fs		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	14					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)	p.A17fs*39(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCCTTGCCGTGGGGGGGGCCC	0.683																																						ENST00000369682.3																			1	Insertion - Frameshift(1)	p.A17fs*39(1)	ovary(1)	breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(40-42)gggfs		plexin A3																																				SO:0001589	frameshift_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153688564_153688565insG	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.49dupG	X.37:g.153688572_153688572dupG	ENSP00000358696:p.Val14fs						p.G14fs	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			2	216_217	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		14					Q5HY36	Frame_Shift_Ins	INS	ENST00000369682.3	37	c.41_42insG	CCDS14752.1																																																																																				0.683	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		7	268						7	268	---	---	---	---
RNA5-8SP6	100873336	broad.mit.edu	37	Y	10037863	10037863	+	RNA	DEL	C	C	-	rs373540942		TCGA-FB-AAPP-01A-12D-A40W-08	TCGA-FB-AAPP-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d00f80a5-fa4b-4d37-a76b-42a7154ad590	beda0a75-c66e-4fd5-a31b-fe48334234e1	g.chrY:10037863delC	ENST00000515896.1	+	0	100									RNA, 5.8S ribosomal pseudogene 6																		ATCGACACTTCGAACGCACTT	0.552																																						ENST00000515896.1																			0																																																			0							g.chrY:10037863delC			Yp11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000251705	ENSG00000251705			41960	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 6"""	RN5-8S6			Standard	NG_033474		Approved						Y.37:g.10037863delC														0	100	+									RNA	DEL	ENST00000515896.1	37																																																																																						0.552	RNA5-8SP6-201	KNOWN	basic	rRNA	rRNA				7	39						7	39	---	---	---	---
