#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
PRMT8	56341	broad.mit.edu	37	12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(91-93)Tcc>Ccc		protein arginine methyltransferase 8							41.0	51.0	47.0					12																	3649787		2199	4299	6498	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649787T>C	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.91T>C	12.37:g.3649787T>C	ENSP00000372067:p.Ser31Pro					PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	p.S31P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	481	+			31					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.91T>C	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834665	0.50951	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.30182	1.65;1.54	5.52	-6.61	0.01818	.	0.606566	0.17318	N	0.178612	T	0.16171	0.0389	L	0.43152	1.355	0.28544	N	0.911948	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09997	-1.0649	10	0.29301	T	0.29	.	3.8844	0.09091	0.1085:0.1587:0.4822:0.2506	.	22;31	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	P	22;31	ENSP00000414507:S22P;ENSP00000372067:S31P	ENSP00000372067:S31P	S	+	1	0	PRMT8	3520048	0.000000	0.05858	0.001000	0.08648	0.946000	0.59487	-0.825000	0.04433	-0.996000	0.03455	0.460000	0.39030	TCC		0.652	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		16	254	0	0	0	1	0	16	254				
COL6A6	131873	broad.mit.edu	37	3	130293015	130293015	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:130293015T>A	ENST00000358511.6	+	7	3224	c.3193T>A	c.(3193-3195)Ttt>Att	p.F1065I	COL6A6_ENST00000453409.2_Missense_Mutation_p.F1065I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1065	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AGAGATATCATTTCAGATTGA	0.478																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(3193-3195)Ttt>Att		collagen, type VI, alpha 6							74.0	72.0	72.0					3																	130293015		1916	4138	6054	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130293015T>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3193T>A	3.37:g.130293015T>A	ENSP00000351310:p.Phe1065Ile					COL6A6_ENST00000453409.2_Missense_Mutation_p.F1065I	p.F1065I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			7	3224	+			1065			Nonhelical region.|VWFA 6.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.3193T>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	T	0.922	-0.715405	0.03206	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.77750	-1.12;-1.12	5.15	-10.3	0.00346	von Willebrand factor, type A (3);	1.854400	0.02610	N	0.102058	T	0.62183	0.2407	L	0.32530	0.975	0.09310	N	1	B	0.18741	0.03	B	0.18871	0.023	T	0.52909	-0.8512	10	0.39692	T	0.17	.	5.7758	0.18279	0.2968:0.4686:0.0603:0.1743	.	1065	A6NMZ7	CO6A6_HUMAN	I	1065	ENSP00000351310:F1065I;ENSP00000399236:F1065I	ENSP00000351310:F1065I	F	+	1	0	COL6A6	131775705	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-3.371000	0.00494	-4.171000	0.00068	-3.121000	0.00061	TTT		0.478	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		155	191	0	0	0	1	0	155	191				
KRTAP4-8	728224	broad.mit.edu	37	17	39254126	39254126	+	Missense_Mutation	SNP	C	C	T	rs202107241		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:39254126C>T	ENST00000333822.4	-	1	267	c.211G>A	c.(211-213)Gtg>Atg	p.V71M		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	71	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						CAGCTGGACACACAGCAGCTG	0.667																																						ENST00000333822.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(211-213)Gtg>Atg		keratin associated protein 4-8							5.0	8.0	7.0					17																	39254126		619	1441	2060	SO:0001583	missense	728224					keratin filament		g.chr17:39254126C>T	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.211G>A	17.37:g.39254126C>T	ENSP00000328444:p.Val71Met						p.V71M	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	267	-			71			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.211G>A	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	8.585	0.883304	0.17467	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.01430	4.9	3.55	-7.1	0.01547	.	3.062900	0.01485	U	0.016837	T	0.03477	0.0100	M	0.81497	2.545	0.09310	N	1	P	0.40266	0.71	B	0.43623	0.425	T	0.15896	-1.0421	10	0.45353	T	0.12	.	7.8878	0.29661	0.0:0.5469:0.2514:0.2017	.	71	Q9BYQ9	KRA48_HUMAN	M	71	ENSP00000328444:V71M	ENSP00000414561:V71M	V	-	1	0	KRTAP4-8	36507652	0.000000	0.05858	0.019000	0.16419	0.121000	0.20230	-2.017000	0.01445	-1.974000	0.00998	-1.450000	0.01041	GTG		0.667	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		7	276	0	0	0	1	0	7	276				
LOC653786	653786	broad.mit.edu	37	16	22558314	22558314	+	RNA	SNP	G	G	A	rs201336667		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:22558314G>A	ENST00000550753.1	+	0	1296					NR_003676.2																						CTGAGACCACGAAGGACTTGG	0.443																																						ENST00000550753.1																			0																																																			0							g.chr16:22558314G>A																													16.37:g.22558314G>A								NR_003676.2						0	1296	+									RNA	SNP	ENST00000550753.1	37																																																																																						0.443	RP11-368J21.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409041.1			4	114	0	0	0	1	0	4	114				
MRC2	9902	broad.mit.edu	37	17	60754766	60754766	+	Silent	SNP	G	G	A	rs201376256		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:60754766G>A	ENST00000303375.5	+	12	2373	c.1971G>A	c.(1969-1971)ccG>ccA	p.P657P		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	657					collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CGGAGCTGCCGGGGCCAGATC	0.667																																						ENST00000303375.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(1969-1971)ccG>ccA		mannose receptor, C type 2		T		0,4378		0,0,2189	14.0	16.0	15.0		1971	-8.1	0.2	17		15	1,8567		0,1,4283	no	coding-synonymous	MRC2	NM_006039.3		0,1,6472	AA,AG,GG		0.0117,0.0,0.0077		657/1480	60754766	1,12945	2189	4284	6473	SO:0001819	synonymous_variant	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60754766G>A	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.1971G>A	17.37:g.60754766G>A							p.P657P	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN			12	2373	+			657					A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Silent	SNP	ENST00000303375.5	37	c.1971G>A	CCDS11634.1																																																																																				0.667	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			41	70	0	0	0	1	0	41	70				
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A	rs373469365	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353													G|||	3	0.000599042	0.0008	0.0	5008	,	,		15081	0.001		0.0	False		,,,				2504	0.001					ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2338-2340)ccG>ccA		RAN binding protein 2							98.0	103.0	101.0					2																	109371498		2198	4282	6480	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371498G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2340G>A	2.37:g.109371498G>A							p.P780P	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			16	2466	+			780					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.2340G>A	CCDS2079.1																																																																																				0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		7	1125	0	0	0	1	0	7	1125				
ZBTB10	65986	broad.mit.edu	37	8	81399879	81399879	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:81399879C>T	ENST00000430430.1	+	2	1613	c.834C>T	c.(832-834)acC>acT	p.T278T	Y_RNA_ENST00000605948.1_RNA|ZBTB10_ENST00000455036.3_Silent_p.T278T|ZBTB10_ENST00000426744.2_Silent_p.T278T|ZBTB10_ENST00000379091.4_Intron	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	278					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)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			GCCAAAAGACCCCTGCAGATG	0.582																																						ENST00000430430.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20						c.(832-834)acC>acT		zinc finger and BTB domain containing 10							36.0	39.0	38.0					8																	81399879		1933	4120	6053	SO:0001819	synonymous_variant	65986				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:81399879C>T	AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.834C>T	8.37:g.81399879C>T						ZBTB10_ENST00000455036.3_Silent_p.T278T|ZBTB10_ENST00000426744.2_Silent_p.T278T|ZBTB10_ENST00000379091.4_Intron	p.T278T	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)		2	1613	+	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		278					A4FVD0|Q86W96|Q8IXI9|Q96MH9	Silent	SNP	ENST00000430430.1	37	c.834C>T	CCDS47880.1																																																																																				0.582	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338055.2	NM_023929		9	188	0	0	0	1	0	9	188				
TTN	7273	broad.mit.edu	37	2	179483531	179483531	+	Silent	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:179483531G>T	ENST00000591111.1	-	201	42047	c.41823C>A	c.(41821-41823)ggC>ggA	p.G13941G	TTN_ENST00000342992.6_Silent_p.G13014G|TTN_ENST00000359218.5_Silent_p.G6642G|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.G15582G|TTN_ENST00000460472.2_Silent_p.G6517G|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000342175.6_Silent_p.G6709G			Q8WZ42	TITIN_HUMAN	titin	13941	Ig-like 95.				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)			TCAGAGGCTTGCCAACATCAA	0.413																																						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.(46744-46746)ggC>ggA		titin							72.0	73.0	73.0					2																	179483531		1939	4144	6083	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179483531G>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.41823C>A	2.37:g.179483531G>T						TTN_ENST00000359218.5_Silent_p.G6642G|TTN_ENST00000460472.2_Silent_p.G6517G|TTN_ENST00000342992.6_Silent_p.G13014G|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.G6709G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.G13941G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	p.G15582G	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)		251	46970	-			13941			Fibronectin type-III 13.		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	Silent	SNP	ENST00000591111.1	37	c.46746C>A																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		23	179	1	0	1.17739e-12	1	1.25715e-12	23	179				
PIGO	84720	broad.mit.edu	37	9	35090143	35090143	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:35090143G>A	ENST00000378617.3	-	9	3383	c.2989C>T	c.(2989-2991)Cgg>Tgg	p.R997W	PIGO_ENST00000341666.3_Missense_Mutation_p.R997W|PIGO_ENST00000298004.5_Missense_Mutation_p.R580W|PIGO_ENST00000361778.2_Missense_Mutation_p.R580W	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	997					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCCCGGAGCCGCATCTCCATC	0.577																																						ENST00000378617.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(2989-2991)Cgg>Tgg		phosphatidylinositol glycan anchor biosynthesis, class O							90.0	80.0	83.0					9																	35090143		2203	4300	6503	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35090143G>A	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2989C>T	9.37:g.35090143G>A	ENSP00000367880:p.Arg997Trp					PIGO_ENST00000341666.3_Missense_Mutation_p.R997W|PIGO_ENST00000298004.5_Missense_Mutation_p.R580W|PIGO_ENST00000361778.2_Missense_Mutation_p.R580W	p.R997W	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		9	3383	-			997					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.2989C>T	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550034	0.65311	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	5.41	1.4	0.22301	.	0.000000	0.85682	D	0.000000	D	0.90000	0.6878	M	0.74881	2.28	0.27067	N	0.963411	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85774	0.1357	10	0.62326	D	0.03	-19.4639	16.391	0.83537	0.0:0.0:0.2488:0.7512	.	580;997	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	W	580;997;997;580	ENSP00000298004:R580W;ENSP00000367880:R997W;ENSP00000339382:R997W;ENSP00000354678:R580W	ENSP00000298004:R580W	R	-	1	2	PIGO	35080143	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	2.059000	0.41384	0.086000	0.17137	-0.181000	0.13052	CGG		0.577	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		5	551	0	0	0	1	0	5	551				
F9	2158	broad.mit.edu	37	X	138643810	138643810	+	Silent	SNP	C	C	T	rs373107855		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chrX:138643810C>T	ENST00000218099.2	+	8	973	c.966C>T	c.(964-966)gaC>gaT	p.D322D	F9_ENST00000394090.2_Silent_p.D284D	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	322	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	TGGAACTGGACGAACCCTTAG	0.408																																						ENST00000218099.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35						c.(964-966)gaC>gaT		coagulation factor IX	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	C		0,3835		0,0,0,1632,571	214.0	181.0	192.0		966	-6.8	0.0	X		192	1,6727		0,0,1,2428,1871	no	coding-synonymous	F9	NM_000133.3		0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095		322/462	138643810	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138643810C>T	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.966C>T	X.37:g.138643810C>T						F9_ENST00000394090.2_Silent_p.D284D	p.D322D	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN			8	973	+	Acute lymphoblastic leukemia(192;0.000127)		322			Peptidase S1.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Silent	SNP	ENST00000218099.2	37	c.966C>T	CCDS14666.1																																																																																				0.408	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			302	35	0	0	0	1	0	302	35				
PLCB2	5330	broad.mit.edu	37	15	40591062	40591062	+	Missense_Mutation	SNP	G	G	A	rs201878648		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:40591062G>A	ENST00000260402.3	-	9	1036	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	PLCB2_ENST00000456256.2_Missense_Mutation_p.R263W|PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000557821.1_Missense_Mutation_p.R263W	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	263					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TGGTCAGGCCGTGCTGGCGGG	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		22310	0.001		0.0	False		,,,				2504	0.0					ENST00000260402.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.(787-789)Cgg>Tgg		phospholipase C, beta 2							71.0	79.0	76.0					15																	40591062		2036	4181	6217	SO:0001583	missense	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40591062G>A		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.787C>T	15.37:g.40591062G>A	ENSP00000260402:p.Arg263Trp					PLCB2_ENST00000557821.1_Missense_Mutation_p.R263W|PLCB2_ENST00000456256.2_Missense_Mutation_p.R263W	p.R263W	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	9	1036	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	263					A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.787C>T	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569821	0.65765	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.44083	0.93;0.93	4.23	4.23	0.50019	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.184362	0.43416	D	0.000566	T	0.54515	0.1863	L	0.53249	1.67	0.25021	N	0.99133	D;D;D	0.89917	0.999;1.0;0.997	P;D;P	0.66497	0.825;0.944;0.783	T	0.45934	-0.9227	10	0.87932	D	0	.	10.3919	0.44175	0.0:0.0:0.6601:0.3399	.	263;263;263	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	W	263	ENSP00000260402:R263W;ENSP00000411991:R263W	ENSP00000260402:R263W	R	-	1	2	PLCB2	38378354	1.000000	0.71417	0.897000	0.35233	0.995000	0.86356	3.917000	0.56424	2.350000	0.79820	0.561000	0.74099	CGG		0.577	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			22	248	0	0	0	1	0	22	248				
C10orf105	414152	broad.mit.edu	37	10	73472564	73472564	+	3'UTR	SNP	C	C	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:73472564C>A	ENST00000441508.2	-	0	3730				CDH23_ENST00000224721.6_Silent_p.I1126I|C10orf105_ENST00000398786.2_3'UTR	NM_001164375.2	NP_001157847.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)											GCCACAGCATCTTGCAGGCAG	0.642																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(3376-3378)atC>atA		cadherin-related 23							29.0	31.0	31.0					10																	73472564		2042	4183	6225	SO:0001624	3_prime_UTR_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73472564C>A	AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427	ENST00000441508.2:c.*3129G>T	10.37:g.73472564C>A						C10orf105_ENST00000398786.2_3'UTR|C10orf105_ENST00000441508.2_3'UTR	p.I1126I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			27	3383	+			1121			Cadherin 11.			Silent	SNP	ENST00000441508.2	37	c.3378C>A	CCDS44430.1																																																																																				0.642	C10orf105-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048551.2	NM_001164375		88	59	1	0	9.79205e-48	1	1.07323e-47	88	59				
CARD9	64170	broad.mit.edu	37	9	139266428	139266428	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:139266428G>A	ENST00000371732.5	-	2	268	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	CARD9_ENST00000315908.7_Missense_Mutation_p.R35W|CARD9_ENST00000371734.3_Missense_Mutation_p.R35W	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	35	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		TTGCACTGCCGCAGGTAAGGT	0.627																																						ENST00000371732.5																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15						c.(103-105)Cgg>Tgg		caspase recruitment domain family, member 9							156.0	126.0	136.0					9																	139266428		2203	4300	6503	SO:0001583	missense	64170				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	g.chr9:139266428G>A	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.103C>T	9.37:g.139266428G>A	ENSP00000360797:p.Arg35Trp					CARD9_ENST00000371734.3_Missense_Mutation_p.R35W|CARD9_ENST00000315908.7_Missense_Mutation_p.R35W	p.R35W	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)	2	268	-		Myeloproliferative disorder(178;0.0511)	35			CARD.		Q5SXM5|Q5SXM6|Q9H854	Missense_Mutation	SNP	ENST00000371732.5	37	c.103C>T	CCDS6997.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766339	0.69878	.	.	ENSG00000187796	ENST00000371734;ENST00000371732;ENST00000315908	T;T;T	0.24723	1.84;1.84;1.84	4.88	0.668	0.17912	DEATH-like (2);Caspase Recruitment (2);	0.000000	0.64402	D	0.000001	T	0.51278	0.1665	M	0.83384	2.64	0.47819	D	0.999526	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.57376	-0.7822	10	0.87932	D	0	-37.0311	13.7351	0.62813	0.0:0.0:0.4779:0.5221	.	35;35;35	Q9H257-2;Q5SXM5;Q9H257	.;.;CARD9_HUMAN	W	35	ENSP00000360799:R35W;ENSP00000360797:R35W;ENSP00000323719:R35W	ENSP00000323719:R35W	R	-	1	2	CARD9	138386249	0.553000	0.26513	0.960000	0.40013	0.840000	0.47671	0.760000	0.26475	-0.043000	0.13513	0.549000	0.68633	CGG		0.627	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	NM_052813		10	726	0	0	0	1	0	10	726				
BCRP7	100133163	broad.mit.edu	37	22	18846006	18846006	+	3'UTR	SNP	A	A	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr22:18846006A>G	ENST00000412938.1	+	0	3364																											GCGCAGGCCGACACTCACTGA	0.617																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846006A>G																												ENST00000412938.1:c.*3361A>G	22.37:g.18846006A>G														0	3364	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.617	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			7	248	0	0	0	1	0	7	248				
KLHL22	84861	broad.mit.edu	37	22	20800871	20800871	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr22:20800871G>A	ENST00000328879.4	-	6	1554	c.1398C>T	c.(1396-1398)taC>taT	p.Y466Y	KLHL22_ENST00000440659.2_Silent_p.Y323Y	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	466					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TGCCTGGATCGTAGCAGTGTG	0.612																																						ENST00000328879.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20						c.(1396-1398)taC>taT		kelch-like family member 22							245.0	189.0	208.0					22																	20800871		2203	4300	6503	SO:0001819	synonymous_variant	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20800871G>A		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.1398C>T	22.37:g.20800871G>A						KLHL22_ENST00000440659.2_Silent_p.Y323Y	p.Y466Y	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		6	1554	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	466					A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Silent	SNP	ENST00000328879.4	37	c.1398C>T	CCDS13780.1																																																																																				0.612	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		5	661	0	0	0	1	0	5	661				
DSG2	1829	broad.mit.edu	37	18	29126100	29126100	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr18:29126100G>A	ENST00000261590.8	+	15	2960	c.2751G>A	c.(2749-2751)gcG>gcA	p.A917A	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	917					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CTAGGCAGGCGCAAAAGGTAG	0.463																																						ENST00000261590.8																			0				breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49						c.(2749-2751)gcG>gcA		desmoglein 2							83.0	81.0	82.0					18																	29126100		1940	4131	6071	SO:0001819	synonymous_variant	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29126100G>A	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.2751G>A	18.37:g.29126100G>A						RP11-75N4.2_ENST00000583706.1_RNA	p.A917A	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		15	2960	+			917					Q4KKU6	Silent	SNP	ENST00000261590.8	37	c.2751G>A	CCDS42423.1																																																																																				0.463	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		6	967	0	0	0	1	0	6	967				
CYP2F1	1572	broad.mit.edu	37	19	41622456	41622456	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:41622456G>T	ENST00000331105.2	+	3	340	c.268G>T	c.(268-270)Gac>Tac	p.D90Y		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	90					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|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)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GGCCCTGGTGGACCAGGGAGA	0.597																																						ENST00000331105.2																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						c.(268-270)Gac>Tac		cytochrome P450, family 2, subfamily F, polypeptide 1							104.0	101.0	102.0					19																	41622456		2203	4300	6503	SO:0001583	missense	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41622456G>T	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.268G>T	19.37:g.41622456G>T	ENSP00000333534:p.Asp90Tyr						p.D90Y	NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN			3	340	+			90					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	ENST00000331105.2	37	c.268G>T	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455851	0.43634	.	.	ENSG00000197446	ENST00000331105	T	0.69926	-0.44	3.91	1.68	0.24146	.	0.188299	0.45361	N	0.000375	T	0.80031	0.4549	M	0.87456	2.885	0.34718	D	0.728485	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.82464	-0.0444	10	0.87932	D	0	.	7.1129	0.25401	0.0957:0.0:0.734:0.1703	.	90;90	Q32MN5;P24903	.;CP2F1_HUMAN	Y	90	ENSP00000333534:D90Y	ENSP00000333534:D90Y	D	+	1	0	CYP2F1	46314296	0.972000	0.33761	0.753000	0.31225	0.591000	0.36615	1.610000	0.36869	0.298000	0.22638	0.544000	0.68410	GAC		0.597	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			37	464	1	0	2.42023e-17	1	2.60944e-17	37	464				
TRIOBP	11078	broad.mit.edu	37	22	38120006	38120006	+	Silent	SNP	T	T	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr22:38120006T>C	ENST00000406386.3	+	7	1698	c.1443T>C	c.(1441-1443)tgT>tgC	p.C481C		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	481					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.C481C(3)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGTGCCCAGCGGG	0.592																																						ENST00000406386.3																			3	Substitution - coding silent(3)	p.C481C(3)	kidney(2)|large_intestine(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1441-1443)tgT>tgC		TRIO and F-actin binding protein							52.0	51.0	51.0					22																	38120006		1899	4072	5971	SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120006T>C	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1443T>C	22.37:g.38120006T>C						RP1-37E16.12_ENST00000455236.1_RNA	p.C481C	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1698	+	Melanoma(58;0.0574)		481					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.1443T>C	CCDS43015.1																																																																																				0.592	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			7	555	0	0	0	1	0	7	555				
PTPN13	5783	broad.mit.edu	37	4	87653817	87653817	+	Missense_Mutation	SNP	C	C	A	rs558463399		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:87653817C>A	ENST00000411767.2	+	12	1819	c.1756C>A	c.(1756-1758)Ctg>Atg	p.L586M	PTPN13_ENST00000427191.2_Missense_Mutation_p.L586M|PTPN13_ENST00000436978.1_Missense_Mutation_p.L586M|PTPN13_ENST00000316707.6_Missense_Mutation_p.L586M|PTPN13_ENST00000511467.1_Missense_Mutation_p.L586M			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	586	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AAGACTGGAACTGACCTGTGA	0.368																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(1756-1758)Ctg>Atg		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							128.0	121.0	123.0					4																	87653817		1905	4137	6042	SO:0001583	missense	0					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87653817C>A		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.1756C>A	4.37:g.87653817C>A	ENSP00000407249:p.Leu586Met					PTPN13_ENST00000511467.1_Missense_Mutation_p.L586M|PTPN13_ENST00000316707.6_Missense_Mutation_p.L586M|PTPN13_ENST00000411767.2_Missense_Mutation_p.L586M|PTPN13_ENST00000427191.2_Missense_Mutation_p.L586M	p.L586M	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	12	2236	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	586			FERM.		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.1756C>A	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993492	0.35131	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18	5.31	2.57	0.30868	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.196433	0.24962	N	0.034217	D	0.83027	0.5165	M	0.66939	2.045	0.52501	D	0.99995	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;0.999;1.0;1.0	T	0.80146	-0.1504	10	0.56958	D	0.05	.	5.0233	0.14372	0.1488:0.6263:0.0:0.2249	.	586;586;586;586	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	M	586;586;586;586;586;554	ENSP00000408368:L586M;ENSP00000394794:L586M;ENSP00000322675:L586M;ENSP00000407249:L586M;ENSP00000426626:L586M	ENSP00000322675:L586M	L	+	1	2	PTPN13	87872841	1.000000	0.71417	0.975000	0.42487	0.014000	0.08584	1.671000	0.37513	0.583000	0.29574	-0.251000	0.11542	CTG		0.368	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			29	244	1	0	2.08457e-15	1	2.24023e-15	29	244				
VPS13A	23230	broad.mit.edu	37	9	79966268	79966268	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:79966268G>A	ENST00000360280.3	+	53	7585	c.7325G>A	c.(7324-7326)gGt>gAt	p.G2442D	VPS13A_ENST00000376636.3_Missense_Mutation_p.G2403D|VPS13A_ENST00000376634.4_Missense_Mutation_p.G2442D|VPS13A_ENST00000357409.5_Missense_Mutation_p.G2442D	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2442					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTCCCTCCTGGTAAAGCCGTG	0.408																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(7324-7326)gGt>gAt		vacuolar protein sorting 13 homolog A (S. cerevisiae)							173.0	171.0	172.0					9																	79966268		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79966268G>A	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.7325G>A	9.37:g.79966268G>A	ENSP00000353422:p.Gly2442Asp					VPS13A_ENST00000376634.4_Missense_Mutation_p.G2442D|VPS13A_ENST00000376636.3_Missense_Mutation_p.G2403D|VPS13A_ENST00000357409.5_Missense_Mutation_p.G2442D	p.G2442D	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			53	7585	+			2442					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.7325G>A	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771926	0.69992	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.49	3.65	0.41850	Vacuolar protein sorting-associated protein (1);	0.131336	0.51477	D	0.000095	T	0.48021	0.1477	M	0.80183	2.485	0.80722	D	1	P;D;D;D	0.69078	0.925;0.997;0.996;0.996	P;D;D;D	0.69654	0.786;0.965;0.921;0.921	T	0.48581	-0.9023	10	0.18710	T	0.47	.	5.9851	0.19430	0.1934:0.0:0.659:0.1476	.	2403;2442;2442;2442	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	D	2442;2403;2442;2442	ENSP00000365821:G2442D;ENSP00000365823:G2403D;ENSP00000353422:G2442D;ENSP00000349985:G2442D	ENSP00000349985:G2442D	G	+	2	0	VPS13A	79156088	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.688000	0.68227	0.675000	0.31264	0.555000	0.69702	GGT		0.408	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		58	696	0	0	0	1	0	58	696				
HSD17B7	51478	broad.mit.edu	37	1	162769603	162769603	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:162769603G>A	ENST00000254521.3	+	5	573	c.518G>A	c.(517-519)aGt>aAt	p.S173N	HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000367917.3_Missense_Mutation_p.S173N	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	173					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)	p.S173N(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					TCATCTCGCAGTGCAAGGAAA	0.458																																						ENST00000367917.3																			4	Substitution - Missense(4)	p.S173N(4)	kidney(2)|endometrium(2)	endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(517-519)aGt>aAt		hydroxysteroid (17-beta) dehydrogenase 7	NADH(DB00157)						76.0	70.0	72.0					1																	162769603		2203	4300	6503	SO:0001583	missense	51478				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	g.chr1:162769603G>A	AF098786	CCDS1242.1	1q23	2011-09-14			ENSG00000132196	ENSG00000132196	1.1.1.270	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5215	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 37C, member 1"""	606756				10544267, 10419022, 19027726	Standard	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	P56937	OTTHUMG00000034420	ENST00000254521.3:c.518G>A	1.37:g.162769603G>A	ENSP00000254521:p.Ser173Asn					HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N	p.S173N			P56937	DHB7_HUMAN			5	586	+	all_hematologic(112;0.115)		173					Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	ENST00000254521.3	37	c.518G>A	CCDS1242.1	.	.	.	.	.	.	.	.	.	.	A	0.896	-0.723912	0.03158	.	.	ENSG00000132196	ENST00000367917;ENST00000254521;ENST00000413934	T;T;T	0.76578	2.88;-1.03;2.88	4.44	3.31	0.37934	NAD(P)-binding domain (1);	0.000000	0.85682	N	0.000000	T	0.27205	0.0667	N	0.04705	-0.18	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.06917	-1.0800	9	0.05833	T	0.94	-30.7352	7.9369	0.29935	0.8252:0.0:0.1748:0.0	.	173	P56937	DHB7_HUMAN	N	173;173;26	ENSP00000356894:S173N;ENSP00000254521:S173N;ENSP00000412146:S26N	ENSP00000254521:S173N	S	+	2	0	HSD17B7	161036227	1.000000	0.71417	0.991000	0.47740	0.478000	0.33099	4.183000	0.58317	0.241000	0.21283	-1.007000	0.02485	AGT		0.458	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1	NM_016371		6	476	0	0	0	1	0	6	476				
CES3	23491	broad.mit.edu	37	16	66998264	66998264	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:66998264G>A	ENST00000303334.4	+	5	636	c.565G>A	c.(565-567)Gga>Aga	p.G189R	RP11-361L15.4_ENST00000566869.1_RNA|CES3_ENST00000394037.1_Missense_Mutation_p.G189R	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	189						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		CCCCAGCACTGGAGATGAGCA	0.587																																						ENST00000303334.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24						c.(565-567)Gga>Aga		carboxylesterase 3							69.0	65.0	66.0					16																	66998264		2200	4300	6500	SO:0001583	missense	23491					endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66998264G>A	AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"""Carboxylesterases"""	1865	protein-coding gene	gene with protein product	"""esterase 31"", ""brain carboxylesterase BR3"""	605279	"""carboxylesterase 3 (brain)"""			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.565G>A	16.37:g.66998264G>A	ENSP00000304782:p.Gly189Arg					CES3_ENST00000394037.1_Missense_Mutation_p.G189R	p.G189R	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)	5	636	+		Ovarian(137;0.0563)	189					B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Missense_Mutation	SNP	ENST00000303334.4	37	c.565G>A	CCDS10826.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374177	0.82573	.	.	ENSG00000172828	ENST00000303334;ENST00000394037	T;T	0.70749	-0.51;-0.51	3.94	3.94	0.45596	Carboxylesterase, type B (1);	0.000000	0.42172	D	0.000752	D	0.82398	0.5028	M	0.81179	2.53	0.80722	D	1	D	0.60575	0.988	P	0.61722	0.893	D	0.85959	0.1469	10	0.87932	D	0	.	15.0602	0.71947	0.0:0.0:1.0:0.0	.	189	Q6UWW8	EST3_HUMAN	R	189	ENSP00000304782:G189R;ENSP00000377602:G189R	ENSP00000304782:G189R	G	+	1	0	CES3	65555765	1.000000	0.71417	0.956000	0.39512	0.104000	0.19210	8.154000	0.89641	2.154000	0.67381	0.514000	0.50259	GGA		0.587	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	NM_024922		126	93	0	0	0	1	0	126	93				
SCN5A	6331	broad.mit.edu	37	3	38592917	38592917	+	Missense_Mutation	SNP	G	G	A	rs199473289		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:38592917G>A	ENST00000333535.4	-	28	5095	c.4946C>T	c.(4945-4947)gCc>gTc	p.A1649V	SCN5A_ENST00000423572.2_Missense_Mutation_p.A1648V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A1631V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A1648V|SCN5A_ENST00000425664.1_Missense_Mutation_p.A1631V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A1595V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A1595V|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000413689.1_Missense_Mutation_p.A1649V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A1616V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A1595V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1649			A -> V (in BRGDA1). {ECO:0000269|PubMed:17081365}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CATCATGAGGGCAAAGAGCAG	0.582																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	GRCh37	CM067713	SCN5A	M		c.(4945-4947)gCc>gTc		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						144.0	141.0	142.0					3																	38592917		2203	4300	6503	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38592917G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4946C>T	3.37:g.38592917G>A	ENSP00000328968:p.Ala1649Val					SCN5A_ENST00000423572.2_Missense_Mutation_p.A1648V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A1616V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A1595V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A1595V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A1648V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A1631V|SCN5A_ENST00000425664.1_Missense_Mutation_p.A1631V|SCN5A_ENST00000333535.4_Missense_Mutation_p.A1649V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A1595V	p.A1649V	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	5139	-	Medulloblastoma(35;0.163)		1649		A -> V (in BRS1).			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.4946C>T	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596086	0.86953	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98732	-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1	4.54	4.54	0.55810	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99266	0.9744	M	0.89840	3.065	0.80722	D	1	D;D;D;D;D;P	0.89917	0.999;0.999;1.0;1.0;0.999;0.947	D;D;D;D;D;P	0.87578	0.981;0.996;0.994;0.998;0.99;0.715	D	0.99035	1.0822	10	0.87932	D	0	.	17.4903	0.87701	0.0:0.0:1.0:0.0	.	1595;1616;1631;1649;1648;1649	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	V	1631;1648;1649;1595;1648;1631;1649;1616;1595;1595	ENSP00000398962:A1631V;ENSP00000398266:A1648V;ENSP00000410257:A1649V;ENSP00000388797:A1595V;ENSP00000397915:A1648V;ENSP00000416634:A1631V;ENSP00000328968:A1649V;ENSP00000399524:A1616V;ENSP00000403355:A1595V;ENSP00000413996:A1595V	ENSP00000328968:A1649V	A	-	2	0	SCN5A	38567921	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.641000	0.98458	2.353000	0.79882	0.561000	0.74099	GCC		0.582	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		6	642	0	0	0	1	0	6	642				
KIAA1804	84451	broad.mit.edu	37	1	233489603	233489603	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:233489603G>A	ENST00000366624.3	+	3	1298	c.1037G>A	c.(1036-1038)gGc>gAc	p.G346D	MLK4_ENST00000366623.3_Missense_Mutation_p.G346D	NM_032435.2	NP_115811.2																					CCCTATCGGGGCATTGATGGC	0.517																																						ENST00000366624.3																			0											c.(1036-1038)gGc>gAc									111.0	103.0	106.0					1																	233489603		2203	4300	6503	SO:0001583	missense	0							g.chr1:233489603G>A																												ENST00000366624.3:c.1037G>A	1.37:g.233489603G>A	ENSP00000355583:p.Gly346Asp					MLK4_ENST00000366623.3_Missense_Mutation_p.G346D	p.G346D	NM_032435.2	NP_115811.2					3	1298	+									Missense_Mutation	SNP	ENST00000366624.3	37	c.1037G>A	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.817960	0.71028	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	D;D	0.90133	-2.62;-2.62	4.91	4.91	0.64330	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92034	0.7476	L	0.39085	1.19	0.80722	D	1	D;D	0.56287	0.975;0.963	D;P	0.63877	0.919;0.767	D	0.90114	0.4194	10	0.26408	T	0.33	.	18.301	0.90163	0.0:0.0:1.0:0.0	.	346;346	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	D	346	ENSP00000355582:G346D;ENSP00000355583:G346D	ENSP00000355582:G346D	G	+	2	0	RP5-862P8.2	231556226	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	9.648000	0.98483	2.538000	0.85594	0.563000	0.77884	GGC		0.517	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			33	879	0	0	0	1	0	33	879				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			0							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	211	0	0	0	1	0	4	211				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	T	C	rs189343211		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:39240627T>C	ENST00000391417.4	+	1	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	57	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S57P(4)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTGCTGCCAGTCTGTGTGCTG	0.667																																						ENST00000391417.4																			4	Substitution - Missense(4)	p.S57P(4)	urinary_tract(2)|kidney(2)	NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(169-171)Tct>Cct		keratin associated protein 4-7							18.0	28.0	25.0					17																	39240627		691	1590	2281	SO:0001583	missense	100132476							g.chr17:39240627T>C	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.169T>C	17.37:g.39240627T>C	ENSP00000375236:p.Ser57Pro						p.S57P	NM_033061.3	NP_149050.3					1	169	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.169T>C	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	0.387	-0.925721	0.02377	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.01272	5.07	3.6	-0.386	0.12466	.	1.254490	0.05892	N	0.628448	T	0.00695	0.0023	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.43572	-0.9383	9	0.02654	T	1	.	4.4551	0.11639	0.0:0.4346:0.1731:0.3923	.	57	Q9BYR0	KRA47_HUMAN	P	57	ENSP00000375236:S57P	ENSP00000375236:S57P	S	+	1	0	KRTAP4-9;KRTAP4-7	36494153	0.000000	0.05858	0.033000	0.17914	0.157000	0.22087	-0.806000	0.04525	0.004000	0.14682	0.374000	0.22700	TCT		0.667	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			11	350	0	0	0	1	0	11	350				
C10orf90	118611	broad.mit.edu	37	10	128193005	128193005	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:128193005C>G	ENST00000284694.7	-	3	884	c.764G>C	c.(763-765)aGg>aCg	p.R255T	C10orf90_ENST00000454341.1_Missense_Mutation_p.R255T|C10orf90_ENST00000392694.1_Missense_Mutation_p.R208T|C10orf90_ENST00000356858.3_Missense_Mutation_p.R208T|C10orf90_ENST00000544758.1_Missense_Mutation_p.R352T|C10orf90_ENST00000368674.1_5'UTR	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	255					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTGAGACACCCTGAGGTGGAC	0.522											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000284694.7																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(763-765)aGg>aCg		chromosome 10 open reading frame 90							91.0	98.0	95.0					10																	128193005		2203	4300	6503	SO:0001583	missense	118611							g.chr10:128193005C>G	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.764G>C	10.37:g.128193005C>G	ENSP00000284694:p.Arg255Thr		OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1563	C10orf90_ENST00000356858.3_Missense_Mutation_p.R208T|C10orf90_ENST00000454341.1_Missense_Mutation_p.R255T|C10orf90_ENST00000544758.1_Missense_Mutation_p.R352T|C10orf90_ENST00000392694.1_Missense_Mutation_p.R208T|C10orf90_ENST00000368674.1_5'UTR	p.R255T	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	3	884	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	255					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.764G>C	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485956	0.63962	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.28666	1.89;1.89;1.92;1.89;1.6	5.38	1.46	0.22682	.	0.499548	0.18438	N	0.141218	T	0.42854	0.1221	M	0.63843	1.955	0.09310	N	1	D;D;D;D;D	0.63880	0.98;0.993;0.977;0.98;0.98	P;P;P;P;P	0.59424	0.663;0.857;0.787;0.663;0.663	T	0.18461	-1.0336	10	0.87932	D	0	-9.3055	7.6307	0.28238	0.0:0.5722:0.0:0.4278	.	352;352;208;255;255	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	T	208;255;255;352;255;208;208	ENSP00000284694:R255T;ENSP00000398786:R255T;ENSP00000444369:R352T;ENSP00000405995:R255T;ENSP00000376459:R208T	ENSP00000284694:R255T	R	-	2	0	C10orf90	128182995	0.001000	0.12720	0.177000	0.23020	0.972000	0.66771	0.336000	0.19823	0.419000	0.25927	0.655000	0.94253	AGG		0.522	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		209	470	0	0	0	1	0	209	470				
FAM86C2P	645332	broad.mit.edu	37	11	67564228	67564228	+	RNA	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:67564228C>T	ENST00000528089.1	-	0	912							A6NEL3	F86C2_HUMAN	family with sequence similarity 86, member C2, pseudogene																		GAGGAGCCCGCTGGTGCTCCC	0.627																																						ENST00000528089.1																			0																																																			0							g.chr11:67564228C>T			11q13.2	2011-07-07			ENSG00000160172	ENSG00000160172			42392	pseudogene	pseudogene							Standard	NR_024249		Approved		uc001omt.4	A6NEL3	OTTHUMG00000167222		11.37:g.67564228C>T														0	912	-									RNA	SNP	ENST00000528089.1	37																																																																																						0.627	FAM86C2P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393796.1			11	312	0	0	0	1	0	11	312				
WNT5A	7474	broad.mit.edu	37	3	55508500	55508500	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:55508500G>A	ENST00000474267.1	-	5	1070	c.549C>T	c.(547-549)ggC>ggT	p.G183G	WNT5A_ENST00000264634.4_Silent_p.G183G|WNT5A_ENST00000497027.1_Silent_p.G168G			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	183					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CGATGTTGTCGCCGCAGCCGC	0.716																																						ENST00000474267.1																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13						c.(547-549)ggC>ggT		wingless-type MMTV integration site family, member 5A							7.0	11.0	10.0					3																	55508500		1904	4083	5987	SO:0001819	synonymous_variant	7474				activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:55508500G>A	L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12784	protein-coding gene	gene with protein product	"""WNT-5A protein"""	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.549C>T	3.37:g.55508500G>A						WNT5A_ENST00000264634.4_Silent_p.G183G|WNT5A_ENST00000497027.1_Silent_p.G168G	p.G183G			P41221	WNT5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)	5	1070	-			183					A8K4A4|Q6P278	Silent	SNP	ENST00000474267.1	37	c.549C>T	CCDS46850.1																																																																																				0.716	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350793.3	NM_003392		39	51	0	0	0	1	0	39	51				
XPOT	11260	broad.mit.edu	37	12	64812808	64812808	+	Silent	SNP	C	C	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:64812808C>G	ENST00000332707.5	+	6	952	c.423C>G	c.(421-423)ctC>ctG	p.L141L		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	141	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.L141L(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GAGTAGATCTCTACCTGCGAA	0.398																																						ENST00000332707.5																			1	Substitution - coding silent(1)	p.L141L(1)	kidney(1)	NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(421-423)ctC>ctG		exportin, tRNA							129.0	128.0	128.0					12																	64812808		2203	4300	6503	SO:0001819	synonymous_variant	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64812808C>G	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.423C>G	12.37:g.64812808C>G							p.L141L	NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	6	952	+			141			Necessary for interaction with Ran, nuclear localization and nuclear import.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Silent	SNP	ENST00000332707.5	37	c.423C>G	CCDS31852.1																																																																																				0.398	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		6	379	0	0	0	1	0	6	379				
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	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)			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						CTACCCCTAAAGGGACTGCTC	0.582																																						ENST00000445192.2																			0				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.(2128-2130)aaA>aaG		proteoglycan 4							162.0	175.0	171.0					1																	186276981		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276981A>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.2130A>G	1.37:g.186276981A>G						PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.K669K	p.K710K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	2175	+			710			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.2130A>G	CCDS1369.1																																																																																				0.582	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		11	1625	0	0	0	1	0	11	1625				
LRP2	4036	broad.mit.edu	37	2	170115538	170115538	+	Missense_Mutation	SNP	G	G	A	rs369600443		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:170115538G>A	ENST00000263816.3	-	17	2795	c.2510C>T	c.(2509-2511)gCc>gTc	p.A837V	LRP2_ENST00000443831.1_Missense_Mutation_p.A700V	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	837					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)			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)"""	CACTTACCCGGCAAAAGGATG	0.403													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15832	0.0		0.0	False		,,,				2504	0.0					ENST00000263816.3																			0				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.(2509-2511)gCc>gTc		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)						117.0	114.0	115.0					2																	170115538		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.chr2:170115538G>A		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.2510C>T	2.37:g.170115538G>A	ENSP00000263816:p.Ala837Val					LRP2_ENST00000443831.1_Missense_Mutation_p.A700V	p.A837V	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	17	2795	-			837					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.2510C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	9.483	1.098743	0.20552	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.91295	-2.82;-2.82	5.77	3.73	0.42828	Six-bladed beta-propeller, TolB-like (1);	0.770796	0.12440	N	0.468797	D	0.86239	0.5885	M	0.67953	2.075	0.27234	N	0.959321	B;B	0.29552	0.248;0.209	B;B	0.28553	0.091;0.035	T	0.75777	-0.3198	10	0.33141	T	0.24	.	1.5273	0.02528	0.4359:0.0:0.2681:0.296	.	700;837	E9PC35;P98164	.;LRP2_HUMAN	V	837;700	ENSP00000263816:A837V;ENSP00000409813:A700V	ENSP00000263816:A837V	A	-	2	0	LRP2	169823784	0.999000	0.42202	0.452000	0.26994	0.191000	0.23601	3.640000	0.54350	0.669000	0.31146	0.591000	0.81541	GCC		0.403	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		5	560	0	0	0	1	0	5	560				
PRCC	5546	broad.mit.edu	37	1	156756500	156756500	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:156756500G>A	ENST00000271526.4	+	3	889	c.617G>A	c.(616-618)cGc>cAc	p.R206H	PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Missense_Mutation_p.R206H	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	206					mitotic cell cycle checkpoint (GO:0007093)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)			PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCTTCTCCCGCAAACCCTCG	0.552			T	TFE3	papillary renal																																	ENST00000271526.4				Dom	yes		1	1q21.1	5546	T	papillary renal cell carcinoma (translocation-associated)			E	TFE3		papillary renal	PRCC/TFE3(25)	0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15						c.(616-618)cGc>cAc		papillary renal cell carcinoma (translocation-associated)							108.0	108.0	108.0					1																	156756500		2203	4300	6503	SO:0001583	missense	5546				cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	g.chr1:156756500G>A	X99720	CCDS1157.1	1q21.1	2008-02-05			ENSG00000143294	ENSG00000143294			9343	protein-coding gene	gene with protein product		179755				8872474	Standard	NM_005973		Approved	RCCP1	uc001fqa.3	Q92733	OTTHUMG00000041294	ENST00000271526.4:c.617G>A	1.37:g.156756500G>A	ENSP00000271526:p.Arg206His					PRCC_ENST00000353233.3_Missense_Mutation_p.R206H|PRCC_ENST00000491853.1_3'UTR	p.R206H	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN			3	889	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		206					A8K1F7|O00665|O00724|Q5SZ06	Missense_Mutation	SNP	ENST00000271526.4	37	c.617G>A	CCDS1157.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206513	0.79127	.	.	ENSG00000143294	ENST00000271526;ENST00000353233;ENST00000368201	T;T	0.52526	0.66;0.8	5.67	5.67	0.87782	.	0.059882	0.64402	D	0.000003	T	0.36331	0.0963	N	0.14661	0.345	0.40079	D	0.976116	D;D	0.76494	0.998;0.999	P;P	0.60117	0.818;0.869	T	0.42396	-0.9454	10	0.62326	D	0.03	-5.7113	11.7614	0.51905	0.0805:0.0:0.9195:0.0	.	206;206	A6NG79;Q92733	.;PRCC_HUMAN	H	206;206;150	ENSP00000271526:R206H;ENSP00000339300:R206H	ENSP00000271526:R206H	R	+	2	0	PRCC	155023124	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.489000	0.60309	2.670000	0.90874	0.655000	0.94253	CGC		0.552	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2	NM_005973		10	877	0	0	0	1	0	10	877				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			4	131	0	0	0	1	0	4	131				
DQX1	165545	broad.mit.edu	37	2	74754875	74754875	+	5'Flank	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:74754875G>A	ENST00000404568.3	-	0	0				HTRA2_ENST00000352222.3_5'Flank|HTRA2_ENST00000258080.3_5'Flank|DQX1_ENST00000393951.2_5'Flank|AUP1_ENST00000377526.3_Missense_Mutation_p.R277C	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1							nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GACTGGGGGCGCAATCTGGGG	0.512																																						ENST00000377526.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						c.(829-831)Cgc>Tgc		ancient ubiquitous protein 1							156.0	170.0	166.0					2																	74754875		1998	4164	6162	SO:0001631	upstream_gene_variant	550					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding	g.chr2:74754875G>A	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965		2.37:g.74754875G>A	Exception_encountered						p.R277C	NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN			8	1138	-			343					Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	c.829C>T	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903540	0.33628	.	.	ENSG00000115307	ENST00000377526;ENST00000258081;ENST00000412627	.	.	.	5.42	3.61	0.41365	.	0.363552	0.27284	N	0.020078	T	0.22589	0.0545	N	0.08118	0	0.36431	D	0.864931	D;D;P	0.58620	0.983;0.958;0.61	B;B;B	0.41299	0.353;0.197;0.169	T	0.31392	-0.9945	9	0.66056	D	0.02	-5.1007	10.3604	0.43989	0.1647:0.0:0.8353:0.0	.	334;343;277	E7EU18;Q9Y679;Q9Y679-2	.;AUP1_HUMAN;.	C	277;341;279	.	ENSP00000258081:R341C	R	-	1	0	AUP1	74608383	0.118000	0.22208	0.865000	0.33974	0.980000	0.70556	3.183000	0.50918	1.304000	0.44892	0.561000	0.74099	CGC		0.512	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		7	1041	0	0	0	1	0	7	1041				
PCDH10	57575	broad.mit.edu	37	4	134073206	134073206	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:134073206G>A	ENST00000264360.5	+	1	2737	c.1911G>A	c.(1909-1911)gaG>gaA	p.E637E	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	637	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(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)		GCACCGGGGAGCTGCGCACAG	0.677																																						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.(1909-1911)gaG>gaA		protocadherin 10							30.0	35.0	33.0					4																	134073206		2188	4281	6469	SO:0001819	synonymous_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073206G>A	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.1911G>A	4.37:g.134073206G>A							p.E637E	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2737	+			637			Cadherin 6.		Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.1911G>A	CCDS34063.1																																																																																				0.677	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		31	191	0	0	0	1	0	31	191				
B3GALTL	145173	broad.mit.edu	37	13	31858882	31858882	+	Silent	SNP	T	T	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:31858882T>A	ENST00000343307.4	+	11	1097	c.948T>A	c.(946-948)atT>atA	p.I316I	B3GALTL_ENST00000461652.2_3'UTR	NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	316					fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		ATTTGGGAATTCCTAATACAG	0.348																																						ENST00000343307.4																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(946-948)atT>atA		beta 1,3-galactosyltransferase-like							98.0	95.0	96.0					13																	31858882		2203	4300	6503	SO:0001819	synonymous_variant	145173				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr13:31858882T>A	AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"""Beta 3-glycosyltransferases"""	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.948T>A	13.37:g.31858882T>A						B3GALTL_ENST00000461652.2_3'UTR	p.I316I	NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)	11	1097	+		Lung SC(185;0.0257)	316					A8K5F8|Q5W0H2|Q6NUI3	Silent	SNP	ENST00000343307.4	37	c.948T>A	CCDS9341.1																																																																																				0.348	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044396.3	NM_194318		29	293	0	0	0	1	0	29	293				
CHD6	84181	broad.mit.edu	37	20	40049687	40049687	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:40049687T>C	ENST00000373233.3	-	31	5765	c.5588A>G	c.(5587-5589)cAc>cGc	p.H1863R		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1863					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				ctcatcACTGTGGTTCTGACT	0.433																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(5587-5589)cAc>cGc		chromodomain helicase DNA binding protein 6							87.0	91.0	90.0					20																	40049687		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40049687T>C	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.5588A>G	20.37:g.40049687T>C	ENSP00000362330:p.His1863Arg						p.H1863R	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			31	5765	-		Myeloproliferative disorder(115;0.00425)	1863					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.5588A>G	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	T	11.98	1.800657	0.31869	.	.	ENSG00000124177	ENST00000373233	D	0.85861	-2.04	5.47	3.09	0.35607	.	0.342208	0.25132	N	0.032892	T	0.73102	0.3544	L	0.27053	0.805	0.80722	D	1	B	0.20671	0.047	B	0.14023	0.01	T	0.66551	-0.5895	10	0.45353	T	0.12	-8.9998	6.7029	0.23234	0.0:0.0779:0.1533:0.7688	.	1863	Q8TD26	CHD6_HUMAN	R	1863	ENSP00000362330:H1863R	ENSP00000362330:H1863R	H	-	2	0	CHD6	39483101	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.274000	0.43390	0.924000	0.37069	0.533000	0.62120	CAC		0.433	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			189	225	0	0	0	1	0	189	225				
PRG4	10216	broad.mit.edu	37	1	186275982	186275982	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:186275982C>T	ENST00000445192.2	+	7	1176	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367484.3_Silent_p.T336T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	377	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)			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						CACCCACCACCCCCAAGGAGC	0.637																																						ENST00000445192.2																			0				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.(1129-1131)acC>acT		proteoglycan 4							171.0	164.0	166.0					1																	186275982		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186275982C>T	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.1131C>T	1.37:g.186275982C>T						PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367483.4_Silent_p.T336T	p.T377T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1176	+			377			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1131C>T	CCDS1369.1																																																																																				0.637	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		17	1568	0	0	0	1	0	17	1568				
HPD	3242	broad.mit.edu	37	12	122285009	122285009	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:122285009G>A	ENST00000289004.4	-	10	743	c.708C>T	c.(706-708)atC>atT	p.I236I	HPD_ENST00000543869.2_5'UTR|HPD_ENST00000543163.1_Silent_p.I197I	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	236					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TGGGCATCTTGATGGACTCTT	0.592																																						ENST00000543163.1																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18						c.(589-591)atC>atT		4-hydroxyphenylpyruvate dioxygenase	Nitisinone(DB00348)						146.0	138.0	141.0					12																	122285009		2203	4300	6503	SO:0001819	synonymous_variant	3242				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr12:122285009G>A	BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"""glyoxalase domain containing 3"""	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.708C>T	12.37:g.122285009G>A						HPD_ENST00000289004.4_Silent_p.I236I|HPD_ENST00000543869.2_5'UTR	p.I197I	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	11	1036	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		236					A8K461|B3KQ63|Q13234	Silent	SNP	ENST00000289004.4	37	c.591C>T	CCDS9224.1																																																																																				0.592	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	NM_002150		101	323	0	0	0	1	0	101	323				
PCDHB14	56122	broad.mit.edu	37	5	140603142	140603142	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:140603142G>T	ENST00000239449.4	+	1	65	c.65G>T	c.(64-66)gGa>gTa	p.G22V	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	22					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)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTTTGCTGGGATTGTCTCGG	0.478																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(64-66)gGa>gTa									101.0	99.0	100.0					5																	140603142		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140603142G>T	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.65G>T	5.37:g.140603142G>T	ENSP00000239449:p.Gly22Val					PCDHB14_ENST00000515856.2_Intron	p.G22V	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	65	+			22					B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.65G>T	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	8.281	0.815658	0.16607	.	.	ENSG00000120327	ENST00000239449	T	0.49432	0.78	4.93	3.12	0.35913	.	.	.	.	.	T	0.37128	0.0992	L	0.49256	1.55	0.09310	N	0.999999	B	0.19817	0.039	B	0.20955	0.032	T	0.24657	-1.0154	9	0.16420	T	0.52	.	6.4783	0.22049	0.1727:0.153:0.6742:0.0	.	22	Q9Y5E9	PCDBE_HUMAN	V	22	ENSP00000239449:G22V	ENSP00000239449:G22V	G	+	2	0	PCDHB14	140583326	0.548000	0.26473	0.999000	0.59377	0.750000	0.42670	0.400000	0.20932	1.209000	0.43321	-0.136000	0.14681	GGA		0.478	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		122	25	1	0	3.90656e-58	1	4.29592e-58	122	25				
ANO1	55107	broad.mit.edu	37	11	69972275	69972275	+	Silent	SNP	C	C	T	rs570844488		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:69972275C>T	ENST00000355303.5	+	10	1376	c.1071C>T	c.(1069-1071)tgC>tgT	p.C357C	ANO1_ENST00000316296.5_Silent_p.C329C|ANO1_ENST00000531349.1_Silent_p.C92C|ANO1_ENST00000538023.1_Silent_p.C357C|ANO1_ENST00000398543.2_Silent_p.C241C|ANO1_ENST00000530676.1_Silent_p.C241C	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	357					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	TGTACGGATGCGCCACCATGG	0.602																																						ENST00000355303.5																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.(1069-1071)tgC>tgT		anoctamin 1, calcium activated chloride channel							75.0	79.0	78.0					11																	69972275		2070	4203	6273	SO:0001819	synonymous_variant	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:69972275C>T	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1071C>T	11.37:g.69972275C>T						ANO1_ENST00000538023.1_Silent_p.C357C|ANO1_ENST00000316296.5_Silent_p.C329C|ANO1_ENST00000398543.2_Silent_p.C241C|ANO1_ENST00000530676.1_Silent_p.C241C|ANO1_ENST00000531349.1_Silent_p.C92C	p.C357C	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN			10	1376	+			357					A8KAM3|Q8IYY8|Q8N7V3	Silent	SNP	ENST00000355303.5	37	c.1071C>T	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	C	0.922	-0.715390	0.03206	.	.	ENSG00000131620	ENST00000530480	.	.	.	5.15	-7.75	0.01236	.	.	.	.	.	T	0.50446	0.1616	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57177	-0.7856	4	.	.	.	.	10.2927	0.43605	0.0:0.1776:0.187:0.6354	.	.	.	.	V	222	.	.	A	+	2	0	ANO1	69649923	0.322000	0.24634	0.410000	0.26471	0.220000	0.24768	-0.486000	0.06513	-1.962000	0.01014	-2.893000	0.00094	GCG		0.602	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		4	227	0	0	0	1	0	4	227				
TNFRSF19	55504	broad.mit.edu	37	13	24200926	24200926	+	Missense_Mutation	SNP	C	C	T	rs368876279		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:24200926C>T	ENST00000382258.4	+	5	644	c.440C>T	c.(439-441)cCg>cTg	p.P147L	TNFRSF19_ENST00000382263.3_Missense_Mutation_p.P147L|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.P15L|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.P147L	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	147					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		CCTTACGAACCGCACTGTGAG	0.463																																						ENST00000382263.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(439-441)cCg>cTg		tumor necrosis factor receptor superfamily, member 19		C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	99.0	85.0	90.0		440,44,440,440	5.5	0.9	13		90	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	TNFRSF19	NM_001204458.1,NM_001204459.1,NM_018647.3,NM_148957.3	98,98,98,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	147/418,15/286,147/424,147/418	24200926	1,13005	2203	4300	6503	SO:0001583	missense	55504				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity	g.chr13:24200926C>T	AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"""Tumor necrosis factor receptor superfamily"""	11915	protein-coding gene	gene with protein product	"""toxicity and JNK inducer"""	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.440C>T	13.37:g.24200926C>T	ENSP00000371693:p.Pro147Leu					TNFRSF19_ENST00000403372.2_Missense_Mutation_p.P15L|TNFRSF19_ENST00000382258.4_Missense_Mutation_p.P147L|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.P147L	p.P147L	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)	5	624	+		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	147					A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Missense_Mutation	SNP	ENST00000382258.4	37	c.440C>T	CCDS9302.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.474459	0.63737	0.0	1.16E-4	ENSG00000127863	ENST00000248484;ENST00000403372;ENST00000382258;ENST00000382263	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.52	5.52	0.82312	.	0.049178	0.85682	D	0.000000	T	0.49321	0.1550	M	0.74881	2.28	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.984;0.978	T	0.43065	-0.9414	10	0.48119	T	0.1	-16.8742	19.0446	0.93015	0.0:1.0:0.0:0.0	.	15;147;147	B4E2I6;Q9NS68;Q9NS68-2	.;TNR19_HUMAN;.	L	147;15;147;147	ENSP00000248484:P147L;ENSP00000385408:P15L;ENSP00000371693:P147L;ENSP00000371698:P147L	ENSP00000248484:P147L	P	+	2	0	TNFRSF19	23098926	1.000000	0.71417	0.926000	0.36857	0.092000	0.18411	6.410000	0.73294	2.608000	0.88229	0.585000	0.79938	CCG		0.463	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	NM_018647		93	244	0	0	0	1	0	93	244				
CNTROB	116840	broad.mit.edu	37	17	7842903	7842903	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:7842903C>T	ENST00000563694.1	+	8	1925	c.1000C>T	c.(1000-1002)Cgg>Tgg	p.R334W	CNTROB_ENST00000380262.3_Missense_Mutation_p.R334W|CNTROB_ENST00000565740.1_Missense_Mutation_p.R334W|CNTROB_ENST00000380255.3_Missense_Mutation_p.R334W	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	334					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GCAGGAAGAGCGGGATGCAGC	0.592																																						ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(1000-1002)Cgg>Tgg		centrobin, centrosomal BRCA2 interacting protein							82.0	77.0	79.0					17																	7842903		2203	4300	6503	SO:0001583	missense	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7842903C>T	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.1000C>T	17.37:g.7842903C>T	ENSP00000456335:p.Arg334Trp					CNTROB_ENST00000380255.3_Missense_Mutation_p.R334W|CNTROB_ENST00000565740.1_Missense_Mutation_p.R334W|CNTROB_ENST00000563694.1_Missense_Mutation_p.R334W	p.R334W	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			8	1925	+		Prostate(122;0.173)	334					A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	37	c.1000C>T	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277488	0.59758	.	.	ENSG00000170037	ENST00000380262;ENST00000380255	T;T	0.65732	-0.17;0.72	5.26	5.26	0.73747	.	0.141093	0.32952	N	0.005452	T	0.61800	0.2376	L	0.29908	0.895	0.39509	D	0.968331	D;B;B;D	0.76494	0.999;0.124;0.124;0.998	P;B;B;P	0.56916	0.809;0.027;0.027;0.809	T	0.65882	-0.6060	10	0.62326	D	0.03	-11.6849	9.9811	0.41813	0.0:0.9069:0.0:0.0931	.	334;334;334;334	Q8N137-4;Q8N137-3;Q8N137;Q8N137-2	.;.;CNTRB_HUMAN;.	W	334	ENSP00000369614:R334W;ENSP00000369605:R334W	ENSP00000369605:R334W	R	+	1	2	CNTROB	7783628	0.992000	0.36948	0.998000	0.56505	0.192000	0.23643	2.031000	0.41117	2.475000	0.83589	0.313000	0.20887	CGG		0.592	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		6	699	0	0	0	1	0	6	699				
MMRN1	22915	broad.mit.edu	37	4	90857205	90857205	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:90857205G>A	ENST00000394980.1	+	7	2693	c.2374G>A	c.(2374-2376)Gac>Aac	p.D792N	MMRN1_ENST00000508372.1_Missense_Mutation_p.D534N|MMRN1_ENST00000264790.2_Missense_Mutation_p.D792N|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	792					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TTTGGTCAATGACAATCAGAG	0.378																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(2374-2376)Gac>Aac		multimerin 1							54.0	54.0	54.0					4																	90857205		2203	4298	6501	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90857205G>A	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2374G>A	4.37:g.90857205G>A	ENSP00000378431:p.Asp792Asn					MMRN1_ENST00000264790.2_Missense_Mutation_p.D792N|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.D534N	p.D792N			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	7	2693	+		Hepatocellular(203;0.114)	792					Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.2374G>A	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	G	7.845	0.722719	0.15439	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.66280	0.14;0.14;-0.2	4.97	4.12	0.48240	.	0.395362	0.25598	N	0.029561	T	0.51024	0.1650	L	0.43152	1.355	0.80722	D	1	B	0.25521	0.128	B	0.19666	0.026	T	0.44498	-0.9324	10	0.19147	T	0.46	.	12.8581	0.57897	0.0787:0.0:0.9213:0.0	.	792	Q13201	MMRN1_HUMAN	N	792;792;534	ENSP00000378431:D792N;ENSP00000264790:D792N;ENSP00000426461:D534N	ENSP00000264790:D792N	D	+	1	0	MMRN1	91076228	0.832000	0.29368	0.981000	0.43875	0.275000	0.26752	1.431000	0.34925	1.375000	0.46248	0.650000	0.86243	GAC		0.378	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		10	306	0	0	0	1	0	10	306				
CTNNB1	1499	broad.mit.edu	37	3	41277224	41277224	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:41277224C>T	ENST00000349496.5	+	11	1973	c.1693C>T	c.(1693-1695)Cgc>Tgc	p.R565C	CTNNB1_ENST00000396183.3_Missense_Mutation_p.R565C|CTNNB1_ENST00000396185.3_Missense_Mutation_p.R565C|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R558C|CTNNB1_ENST00000405570.1_Missense_Mutation_p.R565C	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	565					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GGAGGGGGTCCGCATGGAAGA	0.403		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"""H, Mis, T"""	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""	CTNNB1/PLAG1(60)	0				NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(1693-1695)Cgc>Tgc		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						103.0	106.0	105.0					3																	41277224		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41277224C>T	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1693C>T	3.37:g.41277224C>T	ENSP00000344456:p.Arg565Cys					CTNNB1_ENST00000396185.3_Missense_Mutation_p.R565C|CTNNB1_ENST00000405570.1_Missense_Mutation_p.R565C|CTNNB1_ENST00000396183.3_Missense_Mutation_p.R565C|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R558C	p.R565C	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	11	1973	+			565					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.1693C>T	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	C	32	5.188262	0.94923	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	5.62	5.62	0.85841	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83326	0.5230	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	0.998;1.0	P;P	0.61328	0.817;0.887	D	0.87162	0.2215	10	0.87932	D	0	-16.2508	19.661	0.95871	0.0:1.0:0.0:0.0	.	493;565	B4DSW9;P35222	.;CTNB1_HUMAN	C	565;565;565;558;565	ENSP00000385604:R565C;ENSP00000379486:R565C;ENSP00000344456:R565C;ENSP00000411226:R558C;ENSP00000379488:R565C	ENSP00000344456:R565C	R	+	1	0	CTNNB1	41252228	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.771000	0.85420	2.659000	0.90383	0.655000	0.94253	CGC		0.403	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		8	632	0	0	0	1	0	8	632				
ZNF318	24149	broad.mit.edu	37	6	43316256	43316256	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:43316256G>A	ENST00000361428.2	-	6	2955	c.2878C>T	c.(2878-2880)Cgg>Tgg	p.R960W	ZNF318_ENST00000318149.3_Missense_Mutation_p.R960W	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	960					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GCCTCTTGCCGTAGCTCTGCA	0.468																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(2878-2880)Cgg>Tgg		zinc finger protein 318							229.0	199.0	209.0					6																	43316256		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43316256G>A	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.2878C>T	6.37:g.43316256G>A	ENSP00000354964:p.Arg960Trp					ZNF318_ENST00000318149.3_Missense_Mutation_p.R960W	p.R960W	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		6	2955	-			960					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.2878C>T	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181629	0.78677	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.38240	1.15;2.48	6.03	5.15	0.70609	.	0.216185	0.39759	N	0.001275	T	0.30448	0.0765	L	0.27053	0.805	0.31399	N	0.676859	D	0.89917	1.0	D	0.67231	0.95	T	0.29882	-0.9997	10	0.87932	D	0	-1.1854	10.7823	0.46384	0.0:0.1273:0.6091:0.2636	.	960	Q5VUA4	ZN318_HUMAN	W	960	ENSP00000323032:R960W;ENSP00000354964:R960W	ENSP00000323032:R960W	R	-	1	2	ZNF318	43424234	0.999000	0.42202	0.962000	0.40283	0.988000	0.76386	4.402000	0.59722	1.533000	0.49186	0.655000	0.94253	CGG		0.468	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		7	860	0	0	0	1	0	7	860				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		6	71	1	0	0.0293803	1	0.0295589	6	71				
HSPA12A	259217	broad.mit.edu	37	10	118460624	118460624	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:118460624C>T	ENST00000369209.3	-	4	375	c.271G>A	c.(271-273)Gac>Aac	p.D91N		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	91						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		ACACCAGGGTCACCTCCCTCC	0.527																																						ENST00000369209.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(271-273)Gac>Aac		heat shock 70kDa protein 12A							74.0	78.0	76.0					10																	118460624		2086	4220	6306	SO:0001583	missense	259217						ATP binding	g.chr10:118460624C>T	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.271G>A	10.37:g.118460624C>T	ENSP00000358211:p.Asp91Asn						p.D91N	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN		all cancers(201;0.0158)	4	375	-			91						Missense_Mutation	SNP	ENST00000369209.3	37	c.271G>A	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652948	0.88056	.	.	ENSG00000165868	ENST00000369209	T	0.44482	0.92	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.60157	0.2247	L	0.52573	1.65	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	T	0.51764	-0.8664	10	0.29301	T	0.29	.	19.6599	0.95861	0.0:1.0:0.0:0.0	.	91	O43301	HS12A_HUMAN	N	91	ENSP00000358211:D91N	ENSP00000358211:D91N	D	-	1	0	HSPA12A	118450614	1.000000	0.71417	0.935000	0.37517	0.783000	0.44284	7.726000	0.84824	2.652000	0.90054	0.655000	0.94253	GAC		0.527	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		27	607	0	0	0	1	0	27	607				
LRRC41	10489	broad.mit.edu	37	1	46745230	46745230	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:46745230C>T	ENST00000343304.6	-	8	2362	c.2077G>A	c.(2077-2079)Gag>Aag	p.E693K	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	693					protein ubiquitination (GO:0016567)	membrane (GO:0016020)		p.E693Q(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GCAACCATCTCAGGCAGAAAT	0.547																																						ENST00000343304.6																			1	Substitution - Missense(1)	p.E693Q(1)	lung(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(2077-2079)Gag>Aag		leucine rich repeat containing 41							102.0	116.0	111.0					1																	46745230		2203	4300	6503	SO:0001583	missense	10489							g.chr1:46745230C>T	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.2077G>A	1.37:g.46745230C>T	ENSP00000343298:p.Glu693Lys					LRRC41_ENST00000472710.1_5'UTR	p.E693K	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN			8	2362	-	Acute lymphoblastic leukemia(166;0.155)		693					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	ENST00000343304.6	37	c.2077G>A	CCDS533.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.758208	0.31137	.	.	ENSG00000132128	ENST00000343304	T	0.53206	0.63	4.57	3.57	0.40892	.	0.202217	0.34291	N	0.004100	T	0.26011	0.0634	N	0.08118	0	0.34421	D	0.697446	B;B	0.23891	0.093;0.009	B;B	0.17433	0.018;0.008	T	0.28902	-1.0029	10	0.23891	T	0.37	-1.5883	13.1628	0.59554	0.0:0.9094:0.0:0.0906	.	693;693	Q15345-3;Q15345	.;LRC41_HUMAN	K	693	ENSP00000343298:E693K	ENSP00000343298:E693K	E	-	1	0	LRRC41	46517817	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.622000	0.46427	2.368000	0.80403	0.561000	0.74099	GAG		0.547	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		7	509	0	0	0	1	0	7	509				
DOCK1	1793	broad.mit.edu	37	10	128923770	128923770	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:128923770G>A	ENST00000280333.6	+	26	2702	c.2593G>A	c.(2593-2595)Gat>Aat	p.D865N		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	865					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CATGATGACCGATCAGCTCAA	0.547																																						ENST00000280333.6																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(2593-2595)Gat>Aat		dedicator of cytokinesis 1							70.0	70.0	70.0					10																	128923770		2131	4246	6377	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:128923770G>A	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.2593G>A	10.37:g.128923770G>A	ENSP00000280333:p.Asp865Asn						p.D865N	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	26	2702	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	865					A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.2593G>A		.	.	.	.	.	.	.	.	.	.	G	20.1	3.941037	0.73557	.	.	ENSG00000150760	ENST00000280333	T	0.23754	1.89	4.88	4.88	0.63580	.	0.058840	0.64402	D	0.000004	T	0.31199	0.0789	M	0.78223	2.4	0.80722	D	1	B;P	0.39883	0.388;0.693	B;B	0.35770	0.067;0.21	T	0.22312	-1.0220	10	0.17832	T	0.49	.	18.4412	0.90667	0.0:0.0:1.0:0.0	.	865;865	B2RUU3;Q14185	.;DOCK1_HUMAN	N	865	ENSP00000280333:D865N	ENSP00000280333:D865N	D	+	1	0	DOCK1	128813760	1.000000	0.71417	0.703000	0.30354	0.981000	0.71138	9.618000	0.98365	2.399000	0.81585	0.557000	0.71058	GAT		0.547	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		5	258	0	0	0	1	0	5	258				
PTPRS	5802	broad.mit.edu	37	19	5218496	5218496	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:5218496G>A	ENST00000587303.1	-	24	4082	c.3983C>T	c.(3982-3984)gCc>gTc	p.A1328V	PTPRS_ENST00000262963.6_Missense_Mutation_p.A1324V|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000592099.1_Missense_Mutation_p.A897V|PTPRS_ENST00000348075.2_Missense_Mutation_p.A1306V|PTPRS_ENST00000353284.2_Missense_Mutation_p.A897V|PTPRS_ENST00000357368.4_Missense_Mutation_p.A1328V|PTPRS_ENST00000372412.4_Missense_Mutation_p.A1329V|PTPRS_ENST00000588012.1_Missense_Mutation_p.A1306V			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1328					cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GGCGAGGTCGGCATTGTTCAG	0.527																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(3985-3987)gCc>gTc		protein tyrosine phosphatase, receptor type, S							241.0	212.0	222.0					19																	5218496		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5218496G>A	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.3983C>T	19.37:g.5218496G>A	ENSP00000467537:p.Ala1328Val					PTPRS_ENST00000262963.6_Missense_Mutation_p.A1324V|PTPRS_ENST00000592099.1_Missense_Mutation_p.A897V|PTPRS_ENST00000587303.1_Missense_Mutation_p.A1328V|PTPRS_ENST00000348075.2_Missense_Mutation_p.A1306V|PTPRS_ENST00000357368.4_Missense_Mutation_p.A1328V|PTPRS_ENST00000353284.2_Missense_Mutation_p.A897V|PTPRS_ENST00000588012.1_Missense_Mutation_p.A1306V|PTPRS_ENST00000588552.1_5'UTR	p.A1329V			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	25	4219	-			1328					O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.3986C>T	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867332	0.72065	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.56776	0.59;0.58;0.56;0.44;0.53	4.3	4.3	0.51218	.	0.469026	0.18281	U	0.146037	T	0.67979	0.2951	L	0.52364	1.645	0.80722	D	1	P;P;D;B;D;D	0.89917	0.84;0.82;1.0;0.065;0.998;1.0	P;P;D;B;D;D	0.91635	0.709;0.535;0.999;0.059;0.968;0.997	T	0.70475	-0.4861	10	0.59425	D	0.04	.	16.9445	0.86227	0.0:0.0:1.0:0.0	.	910;897;901;1306;1328;923	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	V	923;1329;1328;1328;1319;1324;1306;910;901;897	ENSP00000361489:A1329V;ENSP00000349932:A1328V;ENSP00000262963:A1324V;ENSP00000269907:A1306V;ENSP00000327313:A897V	ENSP00000262963:A1324V	A	-	2	0	PTPRS	5169496	1.000000	0.71417	0.655000	0.29622	0.179000	0.23085	9.143000	0.94623	2.232000	0.73038	0.561000	0.74099	GCC		0.527	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			8	1295	0	0	0	1	0	8	1295				
GMPR	2766	broad.mit.edu	37	6	16254859	16254859	+	Missense_Mutation	SNP	G	G	T	rs370707259		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:16254859G>T	ENST00000259727.4	+	4	472	c.358G>T	c.(358-360)Gtg>Ttg	p.V120L		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	120					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				CCTGGAAGCTGTGCCACAGGT	0.448																																						ENST00000259727.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20						c.(358-360)Gtg>Ttg		guanosine monophosphate reductase							213.0	202.0	206.0					6																	16254859		2203	4300	6503	SO:0001583	missense	2766				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding	g.chr6:16254859G>T		CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.358G>T	6.37:g.16254859G>T	ENSP00000259727:p.Val120Leu						p.V120L	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN			4	472	+	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	120					Q96HQ6	Missense_Mutation	SNP	ENST00000259727.4	37	c.358G>T	CCDS4537.1	.	.	.	.	.	.	.	.	.	.	G	4.583	0.108402	0.08780	.	.	ENSG00000137198	ENST00000259727	T	0.17054	2.3	5.65	2.83	0.33086	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.181713	0.49305	N	0.000141	T	0.03564	0.0102	L	0.42245	1.32	0.46298	D	0.998973	B	0.11235	0.004	B	0.13407	0.009	T	0.32241	-0.9914	10	0.08599	T	0.76	-2.5539	4.6069	0.12382	0.2538:0.3194:0.4268:0.0	.	120	P36959	GMPR1_HUMAN	L	120	ENSP00000259727:V120L	ENSP00000259727:V120L	V	+	1	0	GMPR	16362838	0.999000	0.42202	0.342000	0.25602	0.606000	0.37113	3.281000	0.51685	0.293000	0.22520	-0.175000	0.13238	GTG		0.448	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2			318	410	1	0	2.17704e-151	1	2.41003e-151	318	410				
MAPRE3	22924	broad.mit.edu	37	2	27248501	27248501	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:27248501C>T	ENST00000233121.2	+	5	718	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	MAPRE3_ENST00000402218.1_Missense_Mutation_p.R159W|MAPRE3_ENST00000405074.3_Missense_Mutation_p.R159W			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	174					mitotic nuclear division (GO:0007067)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule plus-end binding (GO:1903033)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACCTCTGGCCGGCTGAGCAA	0.577																																						ENST00000233121.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13						c.(520-522)Cgg>Tgg		microtubule-associated protein, RP/EB family, member 3							62.0	60.0	61.0					2																	27248501		2203	4300	6503	SO:0001583	missense	22924				cell division|mitosis|positive regulation of transcription, DNA-dependent	cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm	microtubule binding|protein binding|small GTPase regulator activity	g.chr2:27248501C>T	Y11174	CCDS1731.1	2p23.3-p23.1	2008-06-04			ENSG00000084764	ENSG00000084764			6892	protein-coding gene	gene with protein product		605788				9233623	Standard	NM_012326		Approved	RP3, EB3	uc002rhw.3	Q9UPY8	OTTHUMG00000097067	ENST00000233121.2:c.520C>T	2.37:g.27248501C>T	ENSP00000233121:p.Arg174Trp					MAPRE3_ENST00000405074.3_Missense_Mutation_p.R159W|MAPRE3_ENST00000402218.1_Missense_Mutation_p.R159W	p.R174W			Q9UPY8	MARE3_HUMAN			5	718	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		174					B7WPK5|O00265|Q6FHB0|Q6FI15|Q9BZP7|Q9BZP8	Missense_Mutation	SNP	ENST00000233121.2	37	c.520C>T	CCDS1731.1	.	.	.	.	.	.	.	.	.	.	c	20.7	4.028586	0.75390	.	.	ENSG00000084764	ENST00000233121;ENST00000405074;ENST00000458529;ENST00000402218	T;T;T;T	0.48201	0.82;0.82;0.86;0.82	4.95	4.95	0.65309	.	0.309930	0.30260	N	0.010038	T	0.57344	0.2047	L	0.59436	1.845	0.58432	D	0.999999	D;B	0.64830	0.994;0.029	P;B	0.51999	0.687;0.008	T	0.62987	-0.6737	10	0.72032	D	0.01	-10.2383	16.97	0.86296	0.0:1.0:0.0:0.0	.	159;174	Q9UPY8-2;Q9UPY8	.;MARE3_HUMAN	W	174;159;174;159	ENSP00000233121:R174W;ENSP00000383915:R159W;ENSP00000391705:R174W;ENSP00000385715:R159W	ENSP00000233121:R174W	R	+	1	2	MAPRE3	27102005	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.666000	0.46799	2.310000	0.77875	0.556000	0.70494	CGG		0.577	MAPRE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214183.1	NM_012326		21	405	0	0	0	1	0	21	405				
TMEM74B	55321	broad.mit.edu	37	20	1161888	1161888	+	Silent	SNP	G	G	A	rs151290339		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:1161888G>A	ENST00000381894.3	-	2	1046	c.375C>T	c.(373-375)tcC>tcT	p.S125S	TMEM74B_ENST00000481747.1_5'Flank	NM_018354.1	NP_060824.1	Q9NUR3	TM74B_HUMAN	transmembrane protein 74B	125						integral component of membrane (GO:0016021)											AAACGAGGGCGGAAACAAAGC	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		18961	0.0		0.001	False		,,,				2504	0.0					ENST00000381894.3																			0											c.(373-375)tcC>tcT		transmembrane protein 74B		G		1,4405	2.1+/-5.4	0,1,2202	89.0	90.0	90.0		375	-3.3	1.0	20	dbSNP_134	90	0,8600		0,0,4300	no	coding-synonymous	C20orf46	NM_018354.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		125/257	1161888	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55321					integral to membrane	protein binding	g.chr20:1161888G>A	AK002052	CCDS13011.1	20p13	2011-11-23	2011-11-23	2011-11-23	ENSG00000125895	ENSG00000125895			15893	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 46"""	C20orf46			Standard	XM_005260748		Approved	FLJ11190	uc002weq.1	Q9NUR3	OTTHUMG00000031655	ENST00000381894.3:c.375C>T	20.37:g.1161888G>A							p.S125S	NM_018354.1	NP_060824.1	Q9NUR3	CT046_HUMAN			2	1046	-			125					D3DVW5	Silent	SNP	ENST00000381894.3	37	c.375C>T	CCDS13011.1																																																																																				0.617	TMEM74B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077496.2	NM_018354		5	553	0	0	0	1	0	5	553				
SMARCA2	6595	broad.mit.edu	37	9	2039779	2039779	+	Silent	SNP	G	G	A	rs376509101|rs62639301	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:2039779G>A	ENST00000382203.1	+	4	878	c.669G>A	c.(667-669)caG>caA	p.Q223Q	SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000349721.2_Silent_p.Q223Q|SMARCA2_ENST00000357248.2_Silent_p.Q223Q|RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000382194.1_Silent_p.Q223Q			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	223	Poly-Gln.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcaacagcagcagcagc	0.642																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(667-669)caG>caA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							10.0	13.0	12.0					9																	2039779		2187	4260	6447	SO:0001819	synonymous_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2039779G>A	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.669G>A	9.37:g.2039779G>A						SMARCA2_ENST00000357248.2_Silent_p.Q223Q|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000349721.2_Silent_p.Q223Q|SMARCA2_ENST00000382194.1_Silent_p.Q223Q	p.Q223Q			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	4	878	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	223			Poly-Gln.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	c.669G>A	CCDS34977.1																																																																																				0.642	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		5	168	0	0	0	1	0	5	168				
FFAR3	2865	broad.mit.edu	37	19	35849914	35849914	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:35849914G>A	ENST00000327809.4	+	2	323	c.122G>A	c.(121-123)gGc>gAc	p.G41D	FFAR3_ENST00000594310.1_Missense_Mutation_p.G41D	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	41					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GTCTTCGTGGGCAAGCTGCAG	0.637																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)	ENST00000327809.4																			0				endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17						c.(121-123)gGc>gAc		free fatty acid receptor 3							170.0	154.0	160.0					19																	35849914		2199	4295	6494	SO:0001583	missense	2865					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35849914G>A	AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"""GPCR / Class A : Fatty acid receptors"""	4499	protein-coding gene	gene with protein product		603821	"""G protein-coupled receptor 41"""	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.122G>A	19.37:g.35849914G>A	ENSP00000328230:p.Gly41Asp					FFAR3_ENST00000594310.1_Missense_Mutation_p.G41D	p.G41D	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		2	323	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		41					B2RWM8|Q14CM7	Missense_Mutation	SNP	ENST00000327809.4	37	c.122G>A	CCDS12459.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163154	0.38217	.	.	ENSG00000185897	ENST00000327809	T	0.37235	1.21	4.99	1.54	0.23209	GPCR, rhodopsin-like superfamily (1);	0.642786	0.15113	U	0.279845	T	0.33294	0.0858	M	0.64404	1.975	0.29428	N	0.860037	P	0.40360	0.714	B	0.40782	0.34	T	0.18587	-1.0332	10	0.35671	T	0.21	-10.7349	6.5349	0.22348	0.1713:0.1498:0.6788:0.0	.	41	O14843	FFAR3_HUMAN	D	41	ENSP00000328230:G41D	ENSP00000328230:G41D	G	+	2	0	FFAR3	40541754	0.000000	0.05858	0.992000	0.48379	0.704000	0.40688	-0.559000	0.05971	0.252000	0.21531	0.455000	0.32223	GGC		0.637	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304		5	621	0	0	0	1	0	5	621				
SLC27A3	11000	broad.mit.edu	37	1	153750295	153750295	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:153750295G>A	ENST00000368661.3	+	4	1301	c.1236G>A	c.(1234-1236)caG>caA	p.Q412Q	SLC27A3_ENST00000271857.2_Silent_p.Q493Q|SLC27A3_ENST00000484014.1_3'UTR	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	412					fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AAGATTGCCAGCAGCACAGGG	0.592																																						ENST00000271857.2																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						c.(1477-1479)caG>caA		solute carrier family 27 (fatty acid transporter), member 3							79.0	68.0	72.0					1																	153750295		2203	4300	6503	SO:0001819	synonymous_variant	11000				fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding	g.chr1:153750295G>A	BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.1236G>A	1.37:g.153750295G>A						SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000368661.3_Silent_p.Q412Q	p.Q493Q			Q5K4L6	S27A3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		4	2239	+	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		412					Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Silent	SNP	ENST00000368661.3	37	c.1479G>A	CCDS1053.1	.	.	.	.	.	.	.	.	.	.	G	9.000	0.979781	0.18812	.	.	ENSG00000143554	ENST00000458027	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	T	0.49372	0.1553	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50092	-0.8868	4	.	.	.	-15.1753	9.1178	0.36769	0.0974:0.0:0.9026:0.0	.	.	.	.	N	117	.	.	S	+	2	0	SLC27A3	152016919	0.000000	0.05858	1.000000	0.80357	0.950000	0.60333	0.692000	0.25482	2.553000	0.86117	0.491000	0.48974	AGC		0.592	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330		6	641	0	0	0	1	0	6	641				
NOL4	8715	broad.mit.edu	37	18	31709908	31709908	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr18:31709908G>A	ENST00000261592.5	-	2	638	c.341C>T	c.(340-342)tCg>tTg	p.S114L	NOL4_ENST00000538587.1_Missense_Mutation_p.S40L|NOL4_ENST00000269185.4_5'UTR|NOL4_ENST00000535475.1_5'UTR|NOL4_ENST00000589544.1_Missense_Mutation_p.S114L	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	114						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CACATGCATCGAATAAATAAT	0.388																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(340-342)tCg>tTg		nucleolar protein 4							125.0	111.0	116.0					18																	31709908		2203	4300	6503	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31709908G>A	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.341C>T	18.37:g.31709908G>A	ENSP00000261592:p.Ser114Leu					NOL4_ENST00000538587.1_Missense_Mutation_p.S40L|NOL4_ENST00000589544.1_Missense_Mutation_p.S114L|NOL4_ENST00000535475.1_5'UTR|NOL4_ENST00000269185.4_5'UTR	p.S114L	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			2	638	-			114					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.341C>T	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	G	33	5.198531	0.94997	.	.	ENSG00000101746	ENST00000261592;ENST00000538587	D	0.82984	-1.67	5.72	5.72	0.89469	.	.	.	.	.	D	0.84826	0.5558	L	0.46157	1.445	0.80722	D	1	D;D;D	0.60575	0.988;0.988;0.988	P;P;P	0.50617	0.646;0.569;0.569	D	0.86139	0.1580	9	0.72032	D	0.01	-2.6538	18.866	0.92292	0.0:0.0:1.0:0.0	.	40;114;114	B4DSQ0;O94818;O94818-2	.;NOL4_HUMAN;.	L	114;40	ENSP00000261592:S114L	ENSP00000261592:S114L	S	-	2	0	NOL4	29963906	1.000000	0.71417	0.976000	0.42696	0.985000	0.73830	9.268000	0.95675	2.710000	0.92621	0.585000	0.79938	TCG		0.388	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		151	431	0	0	0	1	0	151	431				
SLC22A23	63027	broad.mit.edu	37	6	3284091	3284091	+	Silent	SNP	C	C	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:3284091C>G	ENST00000406686.3	-	9	1697	c.1698G>C	c.(1696-1698)gtG>gtC	p.V566V	PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000490273.1_Silent_p.V285V|SLC22A23_ENST00000436008.2_Silent_p.V574V|SLC22A23_ENST00000380302.4_Silent_p.V285V	NM_015482.1	NP_056297.1	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	566					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				CGCACCTTATCACCGTCGGGG	0.587																																						ENST00000436008.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14						c.(1720-1722)gtG>gtC		solute carrier family 22, member 23							70.0	64.0	66.0					6																	3284091		2203	4300	6503	SO:0001819	synonymous_variant	63027				ion transport	integral to membrane	transmembrane transporter activity	g.chr6:3284091C>G	AJ420525	CCDS34331.1, CCDS47363.1, CCDS75389.1	6p25.2	2013-05-22	2008-01-11	2008-01-11	ENSG00000137266	ENSG00000137266		"""Solute carriers"""	21106	protein-coding gene	gene with protein product		611697	"""chromosome 6 open reading frame 85"""	C6orf85		17714910	Standard	NM_015482		Approved	FLJ22174	uc003mvm.3	A1A5C7	OTTHUMG00000014144	ENST00000406686.3:c.1698G>C	6.37:g.3284091C>G						SLC22A23_ENST00000380302.4_Silent_p.V285V|SLC22A23_ENST00000490273.1_Silent_p.V285V|SLC22A23_ENST00000406686.3_Silent_p.V566V|PSMG4_ENST00000451246.2_Intron	p.V574V			A1A5C7	S22AN_HUMAN			10	2184	-	Ovarian(93;0.0493)	all_hematologic(90;0.0905)	566					A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73	Silent	SNP	ENST00000406686.3	37	c.1722G>C	CCDS47363.1																																																																																				0.587	SLC22A23-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353059.1	NM_021945		16	215	0	0	0	1	0	16	215				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000564451.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000567960.1_RNA								0	1866	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		8	462	0	0	0	1	0	8	462				
C1R	715	broad.mit.edu	37	12	7241475	7241475	+	Silent	SNP	C	C	T	rs570489350		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:7241475C>T	ENST00000542285.1	-	6	1022	c.873G>A	c.(871-873)tcG>tcA	p.S291S	C1R_ENST00000602298.1_5'Flank			P00736	C1R_HUMAN	complement component 1, r subcomponent	292	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGCTGTCCCCCGACTCATCTG	0.607																																						ENST00000542285.1																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16						c.(871-873)tcG>tcA		complement component 1, r subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						19.0	21.0	20.0					12																	7241475		1914	4113	6027	SO:0001819	synonymous_variant	715				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7241475C>T	M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"""Complement system"""	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.873G>A	12.37:g.7241475C>T							p.S291S			P00736	C1R_HUMAN			6	1022	-			292			CUB 2.		A6NJQ8|Q68D77|Q8J012	Silent	SNP	ENST00000542285.1	37	c.873G>A																																																																																					0.607	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001733		10	50	0	0	0	1	0	10	50				
SLC16A11	162515	broad.mit.edu	37	17	6945098	6945098	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:6945098G>A	ENST00000308009.1	-	4	1653	c.1316C>T	c.(1315-1317)cCa>cTa	p.P439L	SLC16A11_ENST00000447225.1_Missense_Mutation_p.P407L	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	439					lipid metabolic process (GO:0006629)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						AGGCGTGGCTGGAGGGGAGGC	0.642																																						ENST00000308009.1																			0				endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						c.(1315-1317)cCa>cTa		solute carrier family 16, member 11							24.0	32.0	29.0					17																	6945098		2200	4294	6494	SO:0001583	missense	162515					integral to membrane|plasma membrane	symporter activity	g.chr17:6945098G>A	AK074674	CCDS11086.1	17p13.2	2013-07-18	2013-07-18		ENSG00000174326	ENSG00000174326		"""Solute carriers"""	23093	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 11"""	615765	"""solute carrier family 16 (monocarboxylic acid transporters), member 11"""				Standard	NM_153357		Approved	FLJ90193, MCT11	uc002gei.1	Q8NCK7	OTTHUMG00000102087	ENST00000308009.1:c.1316C>T	17.37:g.6945098G>A	ENSP00000310490:p.Pro439Leu					SLC16A11_ENST00000447225.1_Missense_Mutation_p.P407L	p.P439L	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN			4	1653	-			439						Missense_Mutation	SNP	ENST00000308009.1	37	c.1316C>T	CCDS11086.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.598178	0.28445	.	.	ENSG00000174326	ENST00000308009;ENST00000447225	T;T	0.07114	3.22;3.23	5.12	3.12	0.35913	.	0.300428	0.30593	N	0.009284	T	0.06188	0.0160	L	0.36672	1.1	0.25669	N	0.985913	B	0.06786	0.001	B	0.06405	0.002	T	0.35748	-0.9776	10	0.25751	T	0.34	.	5.9864	0.19436	0.095:0.0:0.7042:0.2008	.	439	Q8NCK7	MOT11_HUMAN	L	439;407	ENSP00000310490:P439L;ENSP00000394449:P407L	ENSP00000310490:P439L	P	-	2	0	SLC16A11	6885822	0.958000	0.32768	0.072000	0.20136	0.838000	0.47535	2.862000	0.48388	0.702000	0.31825	0.650000	0.86243	CCA		0.642	SLC16A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219921.1	NM_153357		4	217	0	0	0	1	0	4	217				
TECTB	6975	broad.mit.edu	37	10	114063060	114063060	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:114063060C>T	ENST00000369422.3	+	10	980	c.980C>T	c.(979-981)gCc>gTc	p.A327V		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	327						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GGGATTTGTGCCGTGTTATAG	0.498																																						ENST00000369422.3																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(979-981)gCc>gTc		tectorin beta							223.0	187.0	199.0					10																	114063060		2203	4300	6503	SO:0001583	missense	6975					anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr10:114063060C>T	AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913			11721	protein-coding gene	gene with protein product		602653				9079715	Standard	NM_058222		Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.980C>T	10.37:g.114063060C>T	ENSP00000358430:p.Ala327Val						p.A327V	NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN		Epithelial(162;0.0143)|all cancers(201;0.0242)	10	980	+		Colorectal(252;0.198)	327					Q5VW53	Missense_Mutation	SNP	ENST00000369422.3	37	c.980C>T	CCDS7571.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.251165	0.39797	.	.	ENSG00000119913	ENST00000369422	T	0.75589	-0.95	5.78	1.76	0.24704	.	0.746210	0.13690	N	0.369629	T	0.54886	0.1886	N	0.24115	0.695	0.23411	N	0.99774	B	0.02656	0.0	B	0.01281	0.0	T	0.33317	-0.9873	10	0.16896	T	0.51	.	6.9036	0.24297	0.0:0.5419:0.3028:0.1552	.	327	Q96PL2	TECTB_HUMAN	V	327	ENSP00000358430:A327V	ENSP00000358430:A327V	A	+	2	0	TECTB	114053050	0.614000	0.27017	0.009000	0.14445	0.004000	0.04260	1.175000	0.31944	0.127000	0.18452	0.655000	0.94253	GCC		0.498	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1	NM_058222		6	865	0	0	0	1	0	6	865				
TPP2	7174	broad.mit.edu	37	13	103298740	103298740	+	Splice_Site	SNP	A	A	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:103298740A>C	ENST00000376065.4	+	20	2526	c.2490A>C	c.(2488-2490)caA>caC	p.Q830H	TPP2_ENST00000376052.3_Splice_Site_p.Q830H	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	830					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACTTTCATCAAGTAAGTGTTT	0.343																																						ENST00000376052.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52						c.e20+1		tripeptidyl peptidase II							101.0	90.0	94.0					13																	103298740		2203	4300	6503	SO:0001630	splice_region_variant	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103298740A>C	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.2490+1A>C	13.37:g.103298740A>C						TPP2_ENST00000376065.4_Splice_Site_p.Q830_splice	p.Q830_splice			P29144	TPP2_HUMAN			20	2506	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		830					Q5VZU8	Splice_Site	SNP	ENST00000376065.4	37	c.2490_splice	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	A	18.68	3.675990	0.67928	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.98	-0.152	0.13407	Peptidase S8A, tripeptidyl peptidase II (1);	0.000000	0.85682	D	0.000000	T	0.74023	0.3662	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.73672	-0.3909	9	0.72032	D	0.01	.	11.9267	0.52823	0.4853:0.0:0.5147:0.0	.	830	P29144	TPP2_HUMAN	H	830	.	ENSP00000365220:Q830H	Q	+	3	2	TPP2	102096741	0.999000	0.42202	0.996000	0.52242	0.993000	0.82548	0.595000	0.24029	-0.206000	0.10203	0.482000	0.46254	CAA		0.343	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2		Missense_Mutation	78	166	0	0	0	1	0	78	166				
FCGBP	8857	broad.mit.edu	37	19	40395919	40395919	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:40395919G>A	ENST00000221347.6	-	15	7485	c.7478C>T	c.(7477-7479)gCc>gTc	p.A2493V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2493	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.A2493V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCAGGACGGCAAACCGATG	0.627																																						ENST00000221347.6																			1	Substitution - Missense(1)	p.A2493V(1)	urinary_tract(1)	NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(7477-7479)gCc>gTc		Fc fragment of IgG binding protein							214.0	180.0	192.0					19																	40395919		2152	3957	6109	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40395919G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7478C>T	19.37:g.40395919G>A	ENSP00000221347:p.Ala2493Val						p.A2493V	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		15	7485	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2493			VWFD 6.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.7478C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698696	0.48307	.	.	ENSG00000090920	ENST00000221347	T	0.58210	0.35	2.91	2.91	0.33838	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.43055	0.1230	N	0.22421	0.69	0.09310	N	1	B	0.29188	0.236	B	0.37989	0.262	T	0.36212	-0.9757	9	0.23302	T	0.38	.	13.0539	0.58969	0.0:0.0:1.0:0.0	.	2493	Q9Y6R7	FCGBP_HUMAN	V	2493	ENSP00000221347:A2493V	ENSP00000221347:A2493V	A	-	2	0	FCGBP	45087759	0.000000	0.05858	0.012000	0.15200	0.130000	0.20726	0.716000	0.25836	1.649000	0.50652	0.298000	0.19748	GCC		0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		14	2030	0	0	0	1	0	14	2030				
PIK3CG	5294	broad.mit.edu	37	7	106508584	106508584	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:106508584C>T	ENST00000359195.3	+	2	888	c.578C>T	c.(577-579)cCc>cTc	p.P193L	PIK3CG_ENST00000440650.2_Missense_Mutation_p.P193L|PIK3CG_ENST00000496166.1_Missense_Mutation_p.P193L	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	193					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AGCCGCGACCCCAAGCTCTAC	0.617																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(577-579)cCc>cTc		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							71.0	75.0	74.0					7																	106508584		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508584C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.578C>T	7.37:g.106508584C>T	ENSP00000352121:p.Pro193Leu					PIK3CG_ENST00000496166.1_Missense_Mutation_p.P193L|PIK3CG_ENST00000440650.2_Missense_Mutation_p.P193L	p.P193L	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	888	+			193					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.578C>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	8.991	0.977776	0.18812	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.70399	-0.48;-0.48;-0.48	5.5	4.61	0.57282	.	0.266178	0.43747	D	0.000530	T	0.61627	0.2362	L	0.42245	1.32	0.58432	D	0.999997	B	0.11235	0.004	B	0.08055	0.003	T	0.57499	-0.7801	10	0.09843	T	0.71	-5.6703	16.5907	0.84764	0.0:0.8695:0.1305:0.0	.	193	P48736	PK3CG_HUMAN	L	193	ENSP00000392258:P193L;ENSP00000419260:P193L;ENSP00000352121:P193L	ENSP00000352121:P193L	P	+	2	0	PIK3CG	106295820	1.000000	0.71417	0.476000	0.27291	0.330000	0.28571	5.891000	0.69782	1.429000	0.47314	0.591000	0.81541	CCC		0.617	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			28	441	0	0	0	1	0	28	441				
ARID3B	10620	broad.mit.edu	37	15	74883672	74883672	+	Silent	SNP	T	T	C	rs199931788		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	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		5	425	0	0	0	1	0	5	425				
TRPM6	140803	broad.mit.edu	37	9	77354692	77354692	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:77354692G>A	ENST00000360774.1	-	34	5671	c.5434C>T	c.(5434-5436)Cgg>Tgg	p.R1812W	TRPM6_ENST00000361255.3_Missense_Mutation_p.R1807W|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1807W|TRPM6_ENST00000451710.3_Missense_Mutation_p.R1816W|TRPM6_ENST00000376871.3_Missense_Mutation_p.R649W|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1816W|TRPM6_ENST00000376872.3_Missense_Mutation_p.R767W	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1812	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGCCATGTCCGCACAACCTCA	0.488																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(5446-5448)Cgg>Tgg		transient receptor potential cation channel, subfamily M, member 6							147.0	146.0	146.0					9																	77354692		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77354692G>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.5434C>T	9.37:g.77354692G>A	ENSP00000354006:p.Arg1812Trp					TRPM6_ENST00000360774.1_Missense_Mutation_p.R1812W|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1807W|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1816W|TRPM6_ENST00000376872.3_Missense_Mutation_p.R767W|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1807W|TRPM6_ENST00000376871.3_Missense_Mutation_p.R649W	p.R1816W			Q9BX84	TRPM6_HUMAN			33	5683	-			1812			Alpha-type protein kinase.		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.5446C>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.782492	0.49891	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864	T;T;T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2;3.2;3.2	5.96	4.12	0.48240	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.422510	0.29410	N	0.012235	T	0.17831	0.0428	L	0.27053	0.805	0.27804	N	0.942373	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.996;0.995;0.995	D;D;D;P;B;B	0.74023	0.982;0.982;0.982;0.545;0.409;0.409	T	0.04191	-1.0970	10	0.72032	D	0.01	.	15.6115	0.76721	0.0:0.0:0.7486:0.2514	.	359;645;763;1812;1807;1807	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	W	1812;1816;767;649;1807;1807;358;1816	ENSP00000354006:R1812W;ENSP00000407341:R1816W;ENSP00000366068:R767W;ENSP00000366067:R649W;ENSP00000396672:R1807W;ENSP00000354962:R1807W;ENSP00000366060:R1816W	ENSP00000354006:R1812W	R	-	1	2	TRPM6	76544512	0.749000	0.28305	0.927000	0.36925	0.165000	0.22458	2.006000	0.40874	0.845000	0.35118	-0.953000	0.02652	CGG		0.488	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		6	817	0	0	0	1	0	6	817				
KDM6B	23135	broad.mit.edu	37	17	7750709	7750709	+	Missense_Mutation	SNP	G	G	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:7750709G>C	ENST00000448097.2	+	10	1527	c.1196G>C	c.(1195-1197)aGc>aCc	p.S399T	KDM6B_ENST00000254846.5_Missense_Mutation_p.S399T			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	399	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.S399T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ACCACCACcagcagcagcagt	0.672																																						ENST00000254846.5																			1	Substitution - Missense(1)	p.S399T(1)	lung(1)	central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(1195-1197)aGc>aCc		lysine (K)-specific demethylase 6B							45.0	54.0	51.0					17																	7750709		2203	4300	6503	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7750709G>C	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.1196G>C	17.37:g.7750709G>C	ENSP00000412513:p.Ser399Thr					KDM6B_ENST00000448097.2_Missense_Mutation_p.S399T	p.S399T	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			10	1585	+			399			Pro-rich.		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.1196G>C		.	.	.	.	.	.	.	.	.	.	G	4.000	-0.002662	0.07819	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.08458	3.09;3.09	2.79	0.726	0.18248	.	0.509864	0.16624	N	0.206341	T	0.03434	0.0099	N	0.08118	0	0.20196	N	0.999927	B	0.11235	0.004	B	0.13407	0.009	T	0.45205	-0.9277	10	0.05351	T	0.99	-5.8581	10.8708	0.46883	0.0:0.4056:0.5944:0.0	.	399	O15054-1	.	T	399	ENSP00000254846:S399T;ENSP00000412513:S399T	ENSP00000254846:S399T	S	+	2	0	KDM6B	7691434	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.396000	0.34531	0.250000	0.21479	-0.234000	0.12200	AGC		0.672	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		5	604	0	0	0	1	0	5	604				
RSPRY1	89970	broad.mit.edu	37	16	57243042	57243042	+	Silent	SNP	T	T	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:57243042T>C	ENST00000537866.1	+	4	1332	c.459T>C	c.(457-459)gaT>gaC	p.D153D	RSPRY1_ENST00000394420.4_Silent_p.D153D			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	153						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CACTGGAAGATCCACTGGGAC	0.338																																						ENST00000537866.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						c.(457-459)gaT>gaC		ring finger and SPRY domain containing 1							213.0	203.0	206.0					16																	57243042		2198	4300	6498	SO:0001819	synonymous_variant	89970					extracellular region	zinc ion binding	g.chr16:57243042T>C	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.459T>C	16.37:g.57243042T>C						RSPRY1_ENST00000394420.4_Silent_p.D153D	p.D153D			Q96DX4	RSPRY_HUMAN			4	1332	+			153					Q6UX21|Q8ND53	Silent	SNP	ENST00000537866.1	37	c.459T>C	CCDS10775.1																																																																																				0.338	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		87	752	0	0	0	1	0	87	752				
AGAP2-AS1	100130776	broad.mit.edu	37	12	58121196	58121196	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:58121196G>A	ENST00000542466.2	+	2	557	c.421G>A	c.(421-423)Gcg>Acg	p.A141T	RP11-571M6.8_ENST00000548410.2_RNA|AGAP2_ENST00000257897.3_Silent_p.R653R|AGAP2_ENST00000547588.1_Silent_p.R1009R					AGAP2 antisense RNA 1																		TTTCCCACACGCGGTTGGCCG	0.672																																						ENST00000542466.2																			0											c.(421-423)Gcg>Acg									57.0	47.0	50.0					12																	58121196		2203	4299	6502	SO:0001583	missense	0							g.chr12:58121196G>A	BC039697, BC069024		12q14.1	2013-05-30			ENSG00000255737	ENSG00000255737		"""Long non-coding RNAs"""	48633	non-coding RNA	RNA, long non-coding							Standard	NR_027032		Approved				OTTHUMG00000170286	ENST00000542466.2:c.421G>A	12.37:g.58121196G>A	ENSP00000437523:p.Ala141Thr					AGAP2_ENST00000257897.3_Silent_p.R653R|AGAP2_ENST00000547588.1_Silent_p.R1009R	p.A141T							2	557	+									Missense_Mutation	SNP	ENST00000542466.2	37	c.421G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.84|16.84	3.233844|3.233844	0.58886|0.58886	.|.	.|.	ENSG00000255737|ENSG00000135439	ENST00000542466|ENST00000328568	.|T	.|0.46451	.|0.87	5.0|5.0	2.18|2.18	0.27775|0.27775	.|.	.|0.269566	.|0.41823	.|D	.|0.000819	T|T	0.51143|0.51143	0.1657|0.1657	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	P|.	0.39624|.	0.681|.	B|.	0.26614|.	0.071|.	T|T	0.50346|0.50346	-0.8839|-0.8839	7|7	0.87932|0.72032	D|D	0|0.01	.|.	9.7483|9.7483	0.40459|0.40459	0.2232:0.0:0.7768:0.0|0.2232:0.0:0.7768:0.0	.|.	141|.	B7Z718|.	.|.	T|C	141|853	.|ENSP00000328160:R853C	ENSP00000437523:A141T|ENSP00000328160:R853C	A|R	+|-	1|1	0|0	RP11-571M6.6|AGAP2	56407463|56407463	0.913000|0.913000	0.31002|0.31002	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.232000|1.232000	0.32636|0.32636	0.245000|0.245000	0.21373|0.21373	0.655000|0.655000	0.94253|0.94253	GCG|CGT		0.672	AGAP2-AS1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000408368.1			56	9	0	0	0	1	0	56	9				
ATP8A2	51761	broad.mit.edu	37	13	26273464	26273464	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:26273464A>G	ENST00000381655.2	+	25	2507	c.2365A>G	c.(2365-2367)Aaa>Gaa	p.K789E	ATP8A2_ENST00000255283.8_Missense_Mutation_p.K749E|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	749					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ACTCTCGTGCAAAGCGGTCAT	0.532																																						ENST00000381655.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72						c.(2365-2367)Aaa>Gaa		ATPase, aminophospholipid transporter, class I, type 8A, member 2							66.0	66.0	66.0					13																	26273464		1956	4143	6099	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26273464A>G	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2365A>G	13.37:g.26273464A>G	ENSP00000371070:p.Lys789Glu					ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.K749E	p.K789E	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	25	2507	+		Breast(139;0.0201)|Lung SC(185;0.0225)	749					Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.2365A>G	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	A	18.37	3.608460	0.66558	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	D;D	0.84516	-1.86;-1.86	5.88	5.88	0.94601	HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90878	0.7134	M	0.64997	1.995	0.54753	D	0.999989	D;D;D	0.62365	0.976;0.97;0.991	D;P;D	0.68039	0.93;0.885;0.955	D	0.91720	0.5388	10	0.87932	D	0	.	16.2824	0.82697	1.0:0.0:0.0:0.0	.	749;569;749	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	E	789;749;569	ENSP00000371070:K789E;ENSP00000255283:K749E	ENSP00000255283:K749E	K	+	1	0	ATP8A2	25171464	1.000000	0.71417	0.241000	0.24154	0.172000	0.22775	9.334000	0.96470	2.250000	0.74265	0.533000	0.62120	AAA		0.532	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		14	288	0	0	0	1	0	14	288				
TRBV5-4	28611	broad.mit.edu	37	7	142168890	142168890	+	RNA	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:142168890C>T	ENST00000454561.2	-	0	155									T cell receptor beta variable 5-4																		GGGCTTGGTCCTCCTGGGGAA	0.592																																						ENST00000454561.2																			0																				25.0	26.0	26.0					7																	142168890		1957	4131	6088			0							g.chr7:142168890C>T	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168890C>T														0	155	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.592	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		6	160	0	0	0	1	0	6	160				
PXMP4	11264	broad.mit.edu	37	20	32295669	32295669	+	Missense_Mutation	SNP	G	G	A	rs376487621		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:32295669G>A	ENST00000409299.3	-	4	574	c.482C>T	c.(481-483)gCg>gTg	p.A161V	PXMP4_ENST00000344022.3_3'UTR|PXMP4_ENST00000217398.3_3'UTR	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	161						integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						CCACACCACCGCAGTGAGCAG	0.602																																						ENST00000409299.3																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						c.(481-483)gCg>gTg		peroxisomal membrane protein 4, 24kDa		G	VAL/ALA,	0,4406		0,0,2203	96.0	90.0	92.0		482,	-0.1	0.0	20		92	1,8599	1.2+/-3.3	0,1,4299	no	missense,utr-3	PXMP4	NM_007238.4,NM_183397.2	64,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,	161/213,	32295669	1,13005	2203	4300	6503	SO:0001583	missense	11264					integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity	g.chr20:32295669G>A	AF072864	CCDS13225.1, CCDS13226.1	20q11.22	2008-07-02	2002-08-29		ENSG00000101417	ENSG00000101417			15920	protein-coding gene	gene with protein product	"""24 kDa peroxisomal intrinsic membrane protein"""		"""peroxisomal membrane protein 4 (24kD)"""			10366717	Standard	NM_183397		Approved	PMP24	uc002wzv.3	Q9Y6I8	OTTHUMG00000032273	ENST00000409299.3:c.482C>T	20.37:g.32295669G>A	ENSP00000386385:p.Ala161Val					PXMP4_ENST00000344022.3_3'UTR|PXMP4_ENST00000217398.3_3'UTR	p.A161V	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN			4	574	-			161					A2A2I7|Q9H0T4	Missense_Mutation	SNP	ENST00000409299.3	37	c.482C>T	CCDS13225.1	.	.	.	.	.	.	.	.	.	.	g	15.78	2.934367	0.52866	0.0	1.16E-4	ENSG00000101417	ENST00000409299	T	0.52526	0.66	5.84	-0.0573	0.13802	.	0.250386	0.46758	D	0.000263	T	0.57873	0.2083	M	0.79011	2.435	0.80722	D	1	D	0.60160	0.987	P	0.48952	0.596	T	0.67795	-0.5578	10	0.38643	T	0.18	-5.9167	20.603	0.99464	0.0:0.6254:0.3746:0.0	.	161	Q9Y6I8	PXMP4_HUMAN	V	161	ENSP00000386385:A161V	ENSP00000386385:A161V	A	-	2	0	PXMP4	31759330	0.995000	0.38212	0.000000	0.03702	0.077000	0.17291	2.712000	0.47186	-0.204000	0.10235	0.638000	0.83543	GCG		0.602	PXMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078739.2	NM_007238		8	680	0	0	0	1	0	8	680				
TFAP2B	7021	broad.mit.edu	37	6	50807925	50807925	+	Missense_Mutation	SNP	G	G	A	rs140210899	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:50807925G>A	ENST00000393655.3	+	6	1166	c.997G>A	c.(997-999)Gcc>Acc	p.A333T	TFAP2B_ENST00000263046.4_Missense_Mutation_p.A342T	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	333					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GGAGTTTCCCGCCAAAGCCGT	0.488																																					Pancreas(116;1373 2332 5475 10752)	ENST00000263046.4																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40						c.(1024-1026)Gcc>Acc		transcription factor AP-2 beta (activating enhancer binding protein 2 beta)							119.0	128.0	125.0					6																	50807925		2203	4300	6503	SO:0001583	missense	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50807925G>A	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.997G>A	6.37:g.50807925G>A	ENSP00000377265:p.Ala333Thr					TFAP2B_ENST00000393655.3_Missense_Mutation_p.A333T	p.A342T			Q92481	AP2B_HUMAN			7	1190	+	Lung NSC(77;0.156)		333					Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	c.1024G>A	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744045	0.69418	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.96992	-4.2;-4.2	5.67	5.67	0.87782	Transcription factor AP-2, C-terminal (1);	0.051753	0.85682	D	0.000000	D	0.94915	0.8356	M	0.77820	2.39	0.80722	D	1	B	0.13145	0.007	B	0.08055	0.003	D	0.91532	0.5243	10	0.59425	D	0.04	-16.997	19.7769	0.96398	0.0:0.0:1.0:0.0	.	333	Q92481	AP2B_HUMAN	T	333;342	ENSP00000377265:A333T;ENSP00000263046:A342T	ENSP00000263046:A342T	A	+	1	0	TFAP2B	50915884	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	5.497000	0.66924	2.692000	0.91855	0.655000	0.94253	GCC		0.488	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		7	784	0	0	0	1	0	7	784				
VWA2	340706	broad.mit.edu	37	10	116045781	116045781	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:116045781C>T	ENST00000392982.3	+	11	1331	c.1081C>T	c.(1081-1083)Cgg>Tgg	p.R361W	VWA2_ENST00000603594.1_Missense_Mutation_p.R361W			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	361	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CGGCTTCCTGCGGGCCAAAGT	0.652																																						ENST00000603594.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.(1081-1083)Cgg>Tgg		von Willebrand factor A domain containing 2							72.0	76.0	74.0					10																	116045781		2203	4300	6503	SO:0001583	missense	340706					extracellular region		g.chr10:116045781C>T	AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.1081C>T	10.37:g.116045781C>T	ENSP00000376708:p.Arg361Trp					VWA2_ENST00000392982.3_Missense_Mutation_p.R361W	p.R361W	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN		Epithelial(162;0.036)|all cancers(201;0.0793)	11	1402	+			361			VWFA 2.		A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37	c.1081C>T		.	.	.	.	.	.	.	.	.	.	C	22.5	4.293428	0.80914	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	D	0.83755	-1.76	5.7	2.64	0.31445	von Willebrand factor, type A (3);	0.335009	0.31589	N	0.007382	D	0.88005	0.6321	M	0.79475	2.455	0.30867	N	0.732839	D;D;D	0.89917	1.0;1.0;1.0	D;D;P	0.65323	0.923;0.934;0.891	D	0.85094	0.0953	10	0.66056	D	0.02	.	7.4549	0.27261	0.1256:0.6853:0.1213:0.0679	.	57;361;361	Q5GFL6-3;Q5GFL6;Q5GFL6-2	.;VWA2_HUMAN;.	W	361	ENSP00000376708:R361W	ENSP00000298715:R361W	R	+	1	2	VWA2	116035771	1.000000	0.71417	0.986000	0.45419	0.895000	0.52256	3.791000	0.55469	0.729000	0.32403	0.563000	0.77884	CGG		0.652	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		6	968	0	0	0	1	0	6	968				
CDC42BPG	55561	broad.mit.edu	37	11	64595249	64595249	+	Missense_Mutation	SNP	G	G	A	rs201898811		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:64595249G>A	ENST00000342711.5	-	31	3973	c.3974C>T	c.(3973-3975)gCg>gTg	p.A1325V	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						GTAGGGGGCCGCATACCCTGC	0.602																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(3973-3975)gCg>gTg		CDC42 binding protein kinase gamma (DMPK-like)							79.0	67.0	71.0					11																	64595249		2201	4297	6498	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64595249G>A	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.3974C>T	11.37:g.64595249G>A	ENSP00000345133:p.Ala1325Val						p.A1325V	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			31	3973	-			1325			CNH.			Missense_Mutation	SNP	ENST00000342711.5	37	c.3974C>T	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.620063	0.28801	.	.	ENSG00000171219	ENST00000342711	T	0.04758	3.56	4.8	4.8	0.61643	Citron-like (2);	0.355464	0.20396	N	0.093156	T	0.05777	0.0151	L	0.44542	1.39	0.24273	N	0.995235	P	0.41475	0.751	B	0.38106	0.265	T	0.41538	-0.9503	10	0.15952	T	0.53	.	15.7563	0.78030	0.0:0.0:1.0:0.0	.	1325	Q6DT37	MRCKG_HUMAN	V	1325	ENSP00000345133:A1325V	ENSP00000345133:A1325V	A	-	2	0	CDC42BPG	64351825	0.460000	0.25776	0.964000	0.40570	0.774000	0.43823	1.409000	0.34680	2.398000	0.81561	0.462000	0.41574	GCG		0.602	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		4	177	0	0	0	1	0	4	177				
FAM209A	200232	broad.mit.edu	37	20	55100020	55100020	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:55100020C>T	ENST00000371328.3	+	1	479	c.156C>T	c.(154-156)acC>acT	p.T52T	GCNT7_ENST00000243913.4_Intron|FAM209A_ENST00000481560.1_3'UTR	NM_001012971.3	NP_001012989.2	Q5JX71	F209A_HUMAN	family with sequence similarity 209, member A	52						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											CAGAGCACACCCAAGGCTGGC	0.483																																						ENST00000371328.3																			0											c.(154-156)acC>acT		family with sequence similarity 209, member A							140.0	127.0	132.0					20																	55100020		2203	4300	6503	SO:0001819	synonymous_variant	200232							g.chr20:55100020C>T	AL109806	CCDS33493.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000124103	ENSG00000124103			16100	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 106"""	C20orf106			Standard	NM_001012971		Approved	dJ1153D9.3		Q5JX71	OTTHUMG00000032799	ENST00000371328.3:c.156C>T	20.37:g.55100020C>T						GCNT7_ENST00000243913.4_Intron|FAM209A_ENST00000481560.1_3'UTR	p.T52T	NM_001012971.3	NP_001012989.2					1	479	+								Q05C43	Silent	SNP	ENST00000371328.3	37	c.156C>T	CCDS33493.1																																																																																				0.483	FAM209A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079815.2			46	542	0	0	0	1	0	46	542				
CYP27A1	1593	broad.mit.edu	37	2	219674321	219674321	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:219674321G>A	ENST00000258415.4	+	2	704	c.277G>A	c.(277-279)Ggt>Agt	p.G93S		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	93					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	GGCCAAGTACGGTCCAATGTG	0.557																																						ENST00000258415.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26						c.(277-279)Ggt>Agt		cytochrome P450, family 27, subfamily A, polypeptide 1	Cholecalciferol(DB00169)						130.0	119.0	122.0					2																	219674321		2203	4300	6503	SO:0001583	missense	1593				bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding	g.chr2:219674321G>A	BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"""Cytochrome P450s"""	2605	protein-coding gene	gene with protein product	"""cerebrotendinous xanthomatosis"""	606530	"""cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"""	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.277G>A	2.37:g.219674321G>A	ENSP00000258415:p.Gly93Ser						p.G93S	NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	2	704	+		Renal(207;0.0474)	93					A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	ENST00000258415.4	37	c.277G>A	CCDS2423.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957299	0.92726	.	.	ENSG00000135929	ENST00000258415	T	0.78003	-1.14	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.90342	0.6978	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91625	0.5314	10	0.87932	D	0	-18.4401	18.7612	0.91851	0.0:0.0:1.0:0.0	.	93	Q02318	CP27A_HUMAN	S	93	ENSP00000258415:G93S	ENSP00000258415:G93S	G	+	1	0	CYP27A1	219382565	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	9.765000	0.98953	2.677000	0.91161	0.655000	0.94253	GGT		0.557	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4			21	433	0	0	0	1	0	21	433				
KRTAP4-11	653240	broad.mit.edu	37	17	39274343	39274343	+	Silent	SNP	A	A	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:39274343A>G	ENST00000391413.2	-	1	263	c.225T>C	c.(223-225)tgT>tgC	p.C75C		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	75	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCTGGGGCGACAGCAGCTGG	0.657																																						ENST00000391413.2																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(223-225)tgT>tgC		keratin associated protein 4-11																																				SO:0001819	synonymous_variant	653240					keratin filament		g.chr17:39274343A>G	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.225T>C	17.37:g.39274343A>G							p.C75C	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	263	-		Breast(137;0.000496)	75		Missing (in allele KAP4.14).	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Silent	SNP	ENST00000391413.2	37	c.225T>C	CCDS45675.1																																																																																				0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			6	419	0	0	0	1	0	6	419				
COLEC10	10584	broad.mit.edu	37	8	120118316	120118316	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:120118316C>T	ENST00000332843.2	+	6	761	c.720C>T	c.(718-720)agC>agT	p.S240S		NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	240	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GGGAACCCAGCGACCCCTATG	0.493																																						ENST00000332843.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(718-720)agC>agT		collectin sub-family member 10 (C-type lectin)							90.0	88.0	89.0					8																	120118316		2203	4300	6503	SO:0001819	synonymous_variant	10584					collagen|cytoplasm	mannose binding	g.chr8:120118316C>T	AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"""Collectins"""	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.720C>T	8.37:g.120118316C>T							p.S240S	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	STAD - Stomach adenocarcinoma(47;0.00113)		6	761	+	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		240			C-type lectin.		Q3SYH6|Q6UW19	Silent	SNP	ENST00000332843.2	37	c.720C>T	CCDS6327.1																																																																																				0.493	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381225.1			156	211	0	0	0	1	0	156	211				
ZAN	7455	broad.mit.edu	37	7	100350361	100350361	+	RNA	SNP	T	T	C	rs200387712		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:100350361T>C	ENST00000348028.3	+	0	2798				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_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)				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)			ACGGAAAAACTCACCATCCCC	0.502																																						ENST00000542585.1																			0				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	375.0	361.0					7																	100350361		1881	4106	5987			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350361T>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.100350361T>C						ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2781	+	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			.	.	.	.	.	.	.	.	.	.	c	5.922	0.354238	0.11182	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.61392	0.11;0.11;0.11	3.16	1.24	0.21308	.	1.200500	0.06499	N	0.736017	T	0.29028	0.0721	N	0.01874	-0.695	0.20403	N	0.999901	B;B	0.14805	0.011;0.01	B;B	0.16722	0.016;0.007	T	0.18777	-1.0326	10	0.30854	T	0.27	.	4.9933	0.14226	0.0:0.6075:0.1758:0.2167	.	878;878	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	878	ENSP00000445943:L878P;ENSP00000445091:L878P;ENSP00000444427:L878P	ENSP00000423579:L878P	L	+	2	0	ZAN	100188297	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.610000	0.05629	0.035000	0.15519	-0.124000	0.14976	CTC		0.502	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		7	725	0	0	0	1	0	7	725				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			6	226	1	0	0.0293803	1	0.0295589	6	226				
ADAMTSL3	57188	broad.mit.edu	37	15	84659900	84659900	+	Missense_Mutation	SNP	G	G	T	rs181714834	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:84659900G>T	ENST00000286744.5	+	23	4131	c.3907G>T	c.(3907-3909)Gtt>Ttt	p.V1303F	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.V1303F|AC027807.1_ENST00000408557.1_RNA	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1303	Ig-like C2-type 3.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCATCTGTCTGTTGTGGTTGG	0.468																																						ENST00000286744.5																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(3907-3909)Gtt>Ttt		ADAMTS-like 3							255.0	233.0	241.0					15																	84659900		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84659900G>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.3907G>T	15.37:g.84659900G>T	ENSP00000286744:p.Val1303Phe					ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.V1303F	p.V1303F	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		23	4131	+			1303			Ig-like C2-type 3.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.3907G>T	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	8.407	0.843177	0.16963	.	.	ENSG00000156218	ENST00000286744	T	0.68025	-0.3	5.34	2.3	0.28687	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.521289	0.14289	N	0.329059	T	0.71962	0.3402	M	0.72118	2.19	0.09310	N	1	P;P	0.41313	0.745;0.664	P;B	0.51266	0.664;0.168	T	0.62562	-0.6828	10	0.72032	D	0.01	.	7.3249	0.26549	0.2092:0.1221:0.6686:0.0	.	1303;1303	P82987-2;P82987	.;ATL3_HUMAN	F	1303	ENSP00000286744:V1303F	ENSP00000286744:V1303F	V	+	1	0	ADAMTSL3	82450904	0.000000	0.05858	0.001000	0.08648	0.086000	0.17979	0.126000	0.15769	0.638000	0.30545	-0.140000	0.14226	GTT		0.468	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		7	708	1	0	0.248553	1	0.249306	7	708				
TUBA3C	7278	broad.mit.edu	37	13	19752465	19752465	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:19752465G>A	ENST00000400113.3	-	3	400	c.296C>T	c.(295-297)gCg>gTg	p.A99V		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	99					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ATTATTGGCCGCATCTTCCTT	0.522																																						ENST00000400113.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(295-297)gCg>gTg		tubulin, alpha 3c							200.0	168.0	178.0					13																	19752465		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19752465G>A	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.296C>T	13.37:g.19752465G>A	ENSP00000382982:p.Ala99Val						p.A99V	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	3	400	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	99					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.296C>T	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	g	13.23	2.174721	0.38413	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.74002	-0.8	1.53	1.53	0.23141	.	0.000000	0.46758	U	0.000271	T	0.77698	0.4169	.	.	.	0.45718	D	0.998626	.	.	.	.	.	.	T	0.78838	-0.2046	7	0.87932	D	0	.	9.0464	0.36349	0.0:0.0:1.0:0.0	.	.	.	.	V	99	ENSP00000382982:A99V	ENSP00000354037:A99V	A	-	2	0	TUBA3C	18650465	1.000000	0.71417	0.979000	0.43373	0.934000	0.57294	7.934000	0.87649	1.161000	0.42604	0.423000	0.28283	GCG		0.522	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		7	923	0	0	0	1	0	7	923				
SEC24C	9632	broad.mit.edu	37	10	75527671	75527671	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:75527671T>A	ENST00000339365.2	+	16	2249	c.2087T>A	c.(2086-2088)cTc>cAc	p.L696H	SEC24C_ENST00000411652.2_Missense_Mutation_p.L577H|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.L696H|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000496827.1_3'UTR	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	696					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TGTGTAGATCTCTTTCTCTTC	0.522																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(2086-2088)cTc>cAc		SEC24 family member C							166.0	149.0	155.0					10																	75527671		2203	4300	6503	SO:0001583	missense	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75527671T>A	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2087T>A	10.37:g.75527671T>A	ENSP00000343405:p.Leu696His					SEC24C_ENST00000411652.2_Missense_Mutation_p.L577H|SEC24C_ENST00000345254.4_Missense_Mutation_p.L696H|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000496827.1_3'UTR	p.L696H	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			16	2249	+	Prostate(51;0.0112)		696					B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	c.2087T>A	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.983773	0.93044	.	.	ENSG00000176986	ENST00000345254;ENST00000339365;ENST00000411652	D;D;D	0.81579	-1.51;-1.51;-1.51	5.98	5.98	0.97165	Sec23/Sec24, trunk domain (1);	0.000000	0.85682	D	0.000000	D	0.92169	0.7517	M	0.93016	3.37	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	0.93828	0.7125	10	0.87932	D	0	-14.9084	16.4728	0.84119	0.0:0.0:0.0:1.0	.	577;696;696	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	H	696;696;577	ENSP00000321845:L696H;ENSP00000343405:L696H;ENSP00000402913:L577H	ENSP00000343405:L696H	L	+	2	0	SEC24C	75197677	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.296000	0.77279	0.482000	0.46254	CTC		0.522	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			12	771	0	0	0	1	0	12	771				
BMS1P20	96610	broad.mit.edu	37	22	22661312	22661312	+	RNA	SNP	T	T	C	rs3855711		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr22:22661312T>C	ENST00000426066.1	+	0	360					NR_027293.1				BMS1 pseudogene 20																		TGAATTTGTGTAGAACTTTGA	0.473																																						ENST00000426066.1																			0																																																			0							g.chr22:22661312T>C			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661312T>C								NR_027293.1						0	360	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.473	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			10	287	0	0	0	1	0	10	287				
HS3ST3B1	9953	broad.mit.edu	37	17	14205233	14205233	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:14205233G>A	ENST00000360954.2	+	1	834	c.398G>A	c.(397-399)gGg>gAg	p.G133E	RP11-214O1.2_ENST00000583262.1_lincRNA	NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1	133					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)			large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		AGTGGGTCTGGGAGCAAGCAG	0.682																																						ENST00000360954.2																			0				large_intestine(3)|lung(3)|skin(1)	7						c.(397-399)gGg>gAg		heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1							11.0	13.0	12.0					17																	14205233		2198	4278	6476	SO:0001583	missense	9953				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	g.chr17:14205233G>A	AF105377	CCDS11167.1	17p12	2007-04-02			ENSG00000125430	ENSG00000125430	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5198	protein-coding gene	gene with protein product		604058				9988767	Standard	NM_006041		Approved	3OST3B1, 30ST3B1	uc002goh.1	Q9Y662	OTTHUMG00000058810	ENST00000360954.2:c.398G>A	17.37:g.14205233G>A	ENSP00000354213:p.Gly133Glu						p.G133E	NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)	1	834	+			133					B3KN58|D3DTS6	Missense_Mutation	SNP	ENST00000360954.2	37	c.398G>A	CCDS11167.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384840	0.61956	.	.	ENSG00000125430	ENST00000360954	T	0.43294	0.95	4.26	3.21	0.36854	.	0.000000	0.64402	U	0.000001	T	0.32585	0.0834	L	0.50993	1.605	0.58432	D	0.999996	P	0.39480	0.675	B	0.28385	0.089	T	0.40098	-0.9581	10	0.42905	T	0.14	.	14.8206	0.70070	0.0:0.1448:0.8552:0.0	.	133	Q9Y662	HS3SB_HUMAN	E	133	ENSP00000354213:G133E	ENSP00000354213:G133E	G	+	2	0	HS3ST3B1	14145958	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	6.788000	0.75105	2.375000	0.81037	0.555000	0.69702	GGG		0.682	HS3ST3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129998.1	NM_006041		38	52	0	0	0	1	0	38	52				
KCNK3	3777	broad.mit.edu	37	2	26950643	26950643	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:26950643G>A	ENST00000302909.3	+	2	517	c.392G>A	c.(391-393)cGc>cAc	p.R131H		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	131					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	CTGGGCGAGCGCATCAACACC	0.652																																					GBM(80;1457 1631 27100 45946)	ENST00000302909.3																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(391-393)cGc>cAc		potassium channel, subfamily K, member 3							86.0	78.0	81.0					2																	26950643		2203	4300	6503	SO:0001583	missense	3777				synaptic transmission	integral to plasma membrane		g.chr2:26950643G>A	AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.392G>A	2.37:g.26950643G>A	ENSP00000306275:p.Arg131His						p.R131H	NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN			2	517	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		131					Q53SU2	Missense_Mutation	SNP	ENST00000302909.3	37	c.392G>A	CCDS1727.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844252	0.91197	.	.	ENSG00000171303	ENST00000538762;ENST00000302909	T	0.32272	1.46	5.27	5.27	0.74061	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.52141	0.1716	L	0.55017	1.72	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.52510	-0.8566	10	0.87932	D	0	.	16.7393	0.85455	0.0:0.0:1.0:0.0	.	131	O14649	KCNK3_HUMAN	H	8;131	ENSP00000306275:R131H	ENSP00000306275:R131H	R	+	2	0	KCNK3	26804147	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.790000	0.99075	2.619000	0.88677	0.561000	0.74099	CGC		0.652	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	NM_002246		6	556	0	0	0	1	0	6	556				
DGKB	1607	broad.mit.edu	37	7	14661065	14661065	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:14661065C>T	ENST00000403951.2	-	15	1644	c.1225G>A	c.(1225-1227)Gtg>Atg	p.V409M	DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Missense_Mutation_p.V401M|DGKB_ENST00000258767.5_Missense_Mutation_p.V409M|DGKB_ENST00000399322.3_Missense_Mutation_p.V409M|DGKB_ENST00000402815.1_Missense_Mutation_p.V408M|DGKB_ENST00000406247.3_Missense_Mutation_p.V409M|DGKB_ENST00000444700.2_Missense_Mutation_p.V390M			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	409					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TTGTCAATCACTTTGTTTGGC	0.313																																						ENST00000403951.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1225-1227)Gtg>Atg		diacylglycerol kinase, beta 90kDa	Phosphatidylserine(DB00144)						134.0	118.0	123.0					7																	14661065		1832	4081	5913	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14661065C>T	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1225G>A	7.37:g.14661065C>T	ENSP00000385780:p.Val409Met					DGKB_ENST00000399322.3_Missense_Mutation_p.V409M|DGKB_ENST00000402815.1_Missense_Mutation_p.V408M|DGKB_ENST00000444700.2_Missense_Mutation_p.V390M|DGKB_ENST00000406247.3_Missense_Mutation_p.V409M|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Missense_Mutation_p.V401M|DGKB_ENST00000258767.5_Missense_Mutation_p.V409M	p.V409M			Q9Y6T7	DGKB_HUMAN			15	1644	-			409					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.1225G>A	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.303842	0.23736	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.79940	-1.22;-1.22;-1.22;-1.23;-1.23;-1.21;-1.32	4.86	2.91	0.33838	.	1.575650	0.03746	N	0.255779	T	0.71584	0.3357	N	0.22421	0.69	0.23893	N	0.996546	B;B;B;B	0.24651	0.033;0.035;0.069;0.108	B;B;B;B	0.28916	0.029;0.096;0.022;0.029	T	0.58446	-0.7635	10	0.31617	T	0.26	.	7.5278	0.27666	0.2534:0.4877:0.259:0.0	.	408;390;409;409	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	M	409;409;409;408;401;390;409	ENSP00000385780:V409M;ENSP00000382260:V409M;ENSP00000258767:V409M;ENSP00000384909:V408M;ENSP00000385031:V401M;ENSP00000388451:V390M;ENSP00000386066:V409M	ENSP00000258767:V409M	V	-	1	0	DGKB	14627590	0.027000	0.19231	0.999000	0.59377	0.704000	0.40688	0.425000	0.21346	1.179000	0.42884	-0.678000	0.03780	GTG		0.313	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		17	159	0	0	0	1	0	17	159				
MYH14	79784	broad.mit.edu	37	19	50781417	50781417	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:50781417G>A	ENST00000596571.1	+	27	3780	c.3780G>A	c.(3778-3780)ctG>ctA	p.L1260L	MYH14_ENST00000601313.1_Silent_p.L1301L|MYH14_ENST00000425460.1_Silent_p.L1268L|MYH14_ENST00000440075.2_Silent_p.L1301L|MYH14_ENST00000376970.2_Silent_p.L1293L|MYH14_ENST00000598205.1_Silent_p.L1268L|MYH14_ENST00000262269.8_Silent_p.L1301L			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1260					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TGAGCAGCCTGCAGACTGCAC	0.677																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(3901-3903)ctG>ctA		myosin, heavy chain 14, non-muscle							23.0	28.0	26.0					19																	50781417		2052	4204	6256	SO:0001819	synonymous_variant	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50781417G>A	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.3780G>A	19.37:g.50781417G>A						MYH14_ENST00000598205.1_Silent_p.L1268L|MYH14_ENST00000596571.1_Silent_p.L1260L|MYH14_ENST00000601313.1_Silent_p.L1301L|MYH14_ENST00000376970.2_Silent_p.L1293L|MYH14_ENST00000262269.8_Silent_p.L1301L|MYH14_ENST00000425460.1_Silent_p.L1268L	p.L1301L			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	30	3950	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1260					B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	ENST00000596571.1	37	c.3903G>A	CCDS59411.1																																																																																				0.677	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		4	139	0	0	0	1	0	4	139				
KIAA1456	57604	broad.mit.edu	37	8	12870280	12870280	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:12870280G>A	ENST00000524591.2	+	4	731	c.242G>A	c.(241-243)cGg>cAg	p.R81Q	KIAA1456_ENST00000447063.2_Missense_Mutation_p.R81Q	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	81							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						GAGATTGCCCGGAATAGAGGA	0.483																																						ENST00000524591.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(241-243)cGg>cAg		KIAA1456							140.0	140.0	140.0					8																	12870280		1978	4167	6145	SO:0001583	missense	57604						methyltransferase activity	g.chr8:12870280G>A	BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"""chromosome 8 open reading frame 79"""	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.242G>A	8.37:g.12870280G>A	ENSP00000432695:p.Arg81Gln					KIAA1456_ENST00000447063.2_Missense_Mutation_p.R81Q	p.R81Q	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN			4	731	+			81					Q96AW6	Missense_Mutation	SNP	ENST00000524591.2	37	c.242G>A	CCDS47808.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435344	0.83885	.	.	ENSG00000250305	ENST00000447063;ENST00000524591;ENST00000532376	T;T	0.50548	0.74;0.74	5.73	2.91	0.33838	Methyltransferase type 11 (1);	.	.	.	.	T	0.39545	0.1082	L	0.28054	0.825	0.80722	D	1	D;D	0.63046	0.992;0.982	P;P	0.50490	0.642;0.639	T	0.21449	-1.0245	9	0.56958	D	0.05	.	6.7573	0.23520	0.2527:0.1282:0.6191:0.0	.	81;81	E9PK20;Q9P272	.;K1456_HUMAN	Q	81	ENSP00000443288:R81Q;ENSP00000432695:R81Q	ENSP00000443288:R81Q	R	+	2	0	AC135352.2	12914651	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.535000	0.53575	0.880000	0.35969	0.655000	0.94253	CGG		0.483	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383262.2	NM_001099677		5	420	0	0	0	1	0	5	420				
ADAMTS9	56999	broad.mit.edu	37	3	64667008	64667008	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:64667008T>C	ENST00000498707.1	-	3	890	c.548A>G	c.(547-549)tAt>tGt	p.Y183C	ADAMTS9_ENST00000459780.1_Missense_Mutation_p.Y183C|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.Y183C	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	183					glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTCAATAAAATAATCCCCATC	0.448																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(547-549)tAt>tGt		ADAM metallopeptidase with thrombospondin type 1 motif, 9							146.0	138.0	141.0					3																	64667008		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64667008T>C	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.548A>G	3.37:g.64667008T>C	ENSP00000418735:p.Tyr183Cys					ADAMTS9_ENST00000295903.4_Missense_Mutation_p.Y183C|ADAMTS9_ENST00000459780.1_Missense_Mutation_p.Y183C	p.Y183C	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	3	890	-		Lung NSC(201;0.00682)	183					A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.548A>G	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	T	18.65	3.670389	0.67814	.	.	ENSG00000163638	ENST00000295903;ENST00000498707;ENST00000459780	T;T;T	0.16457	2.34;2.34;2.34	6.04	6.04	0.98038	Peptidase M12B, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.55401	0.1918	H	0.94462	3.54	0.54753	D	0.999985	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.99;0.976;0.997	T	0.68659	-0.5350	10	0.87932	D	0	.	16.5763	0.84648	0.0:0.0:0.0:1.0	.	183;183;183;183	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	C	183	ENSP00000295903:Y183C;ENSP00000418735:Y183C;ENSP00000419217:Y183C	ENSP00000295903:Y183C	Y	-	2	0	ADAMTS9	64642048	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.282000	0.58971	2.317000	0.78254	0.459000	0.35465	TAT		0.448	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			21	257	0	0	0	1	0	21	257				
IFIT1	3434	broad.mit.edu	37	10	91162380	91162380	+	Silent	SNP	T	T	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:91162380T>A	ENST00000371804.3	+	2	515	c.348T>A	c.(346-348)acT>acA	p.T116T	IFIT1_ENST00000546318.1_Silent_p.T85T|LIPA_ENST00000371837.1_Intron	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	116					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						AAGCCCAGACTTACCTGGACA	0.493																																						ENST00000546318.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(253-255)acT>acA		interferon-induced protein with tetratricopeptide repeats 1							47.0	47.0	47.0					10																	91162380		2203	4300	6503	SO:0001819	synonymous_variant	3434				cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding	g.chr10:91162380T>A	M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"""Tetratricopeptide (TTC) repeat domain containing"""	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.348T>A	10.37:g.91162380T>A						IFIT1_ENST00000371804.3_Silent_p.T116T|LIPA_ENST00000371837.1_Intron	p.T85T	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN			2	1542	+			116					B3KS50|D3DR31|Q5T7J1|Q96QM5	Silent	SNP	ENST00000371804.3	37	c.255T>A	CCDS31243.1																																																																																				0.493	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	NM_001548		118	259	0	0	0	1	0	118	259				
SSTR1	6751	broad.mit.edu	37	14	38678919	38678919	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr14:38678919C>A	ENST00000267377.2	+	3	942	c.325C>A	c.(325-327)Ctc>Atc	p.L109I		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	109					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	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;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	GCTGCTCATGCTCAGCGTGCC	0.567																																						ENST00000267377.2																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(325-327)Ctc>Atc		somatostatin receptor 1	Octreotide(DB00104)						206.0	186.0	193.0					14																	38678919		2203	4300	6503	SO:0001583	missense	0				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	g.chr14:38678919C>A		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"""GPCR / Class A : Somatostatin receptors"""	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.325C>A	14.37:g.38678919C>A	ENSP00000267377:p.Leu109Ile						p.L109I	NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	942	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		109						Missense_Mutation	SNP	ENST00000267377.2	37	c.325C>A	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093515	0.56075	.	.	ENSG00000139874	ENST00000267377	T	0.41065	1.01	4.8	4.8	0.61643	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000141	T	0.55847	0.1946	L	0.43701	1.375	0.52501	D	0.999953	D	0.56287	0.975	D	0.63877	0.919	T	0.58624	-0.7604	10	0.72032	D	0.01	.	17.0253	0.86444	0.0:1.0:0.0:0.0	.	109	P30872	SSR1_HUMAN	I	109	ENSP00000267377:L109I	ENSP00000267377:L109I	L	+	1	0	SSTR1	37748670	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	1.936000	0.40183	2.505000	0.84491	0.655000	0.94253	CTC		0.567	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			5	520	1	0	0.0293803	1	0.0295589	5	520				
ZXDC	79364	broad.mit.edu	37	3	126194437	126194437	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:126194437G>A	ENST00000389709.3	-	1	325	c.272C>T	c.(271-273)gCc>gTc	p.A91V	ZXDC_ENST00000336332.5_Missense_Mutation_p.A91V	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	91					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CTGTGATCCGGCAGCCTCGGC	0.776																																						ENST00000389709.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(271-273)gCc>gTc		ZXD family zinc finger C							8.0	10.0	9.0					3																	126194437		1111	2637	3748	SO:0001583	missense	79364				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:126194437G>A	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.272C>T	3.37:g.126194437G>A	ENSP00000374359:p.Ala91Val					ZXDC_ENST00000336332.5_Missense_Mutation_p.A91V	p.A91V	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	325	-			91					C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Missense_Mutation	SNP	ENST00000389709.3	37	c.272C>T	CCDS43145.1	.	.	.	.	.	.	.	.	.	.	G	6.539	0.467617	0.12402	.	.	ENSG00000070476	ENST00000389709;ENST00000336332	T;T	0.29655	1.56;1.56	2.8	0.75	0.18387	.	6.749460	0.03419	U	0.206071	T	0.17280	0.0415	N	0.14661	0.345	0.09310	N	1	B;B	0.17465	0.022;0.013	B;B	0.17098	0.017;0.011	T	0.16100	-1.0414	10	0.30854	T	0.27	-0.4056	1.4972	0.02469	0.1375:0.2022:0.4341:0.2261	.	91;91	Q2QGD7-2;Q2QGD7	.;ZXDC_HUMAN	V	91	ENSP00000374359:A91V;ENSP00000337694:A91V	ENSP00000337694:A91V	A	-	2	0	ZXDC	127677127	0.021000	0.18746	0.001000	0.08648	0.027000	0.11550	1.823000	0.39062	0.006000	0.14734	0.436000	0.28706	GCC		0.776	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112		4	120	0	0	0	1	0	4	120				
KCNQ5	56479	broad.mit.edu	37	6	73751750	73751750	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:73751750G>A	ENST00000370398.1	+	3	690	c.581G>A	c.(580-582)aGa>aAa	p.R194K	KCNQ5_ENST00000370392.1_Missense_Mutation_p.R194K|KCNQ5_ENST00000342056.2_Missense_Mutation_p.R194K|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R194K|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R194K|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R194K|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R194K|KCNQ5_ENST00000414165.2_Missense_Mutation_p.R194K	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	194					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TGGCAAGGAAGACTGAGGTTT	0.428																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000342056.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(580-582)aGa>aAa		potassium voltage-gated channel, KQT-like subfamily, member 5							320.0	287.0	298.0					6																	73751750		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73751750G>A	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.581G>A	6.37:g.73751750G>A	ENSP00000359425:p.Arg194Lys					KCNQ5_ENST00000414165.2_Missense_Mutation_p.R194K|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R194K|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R194K|KCNQ5_ENST00000370392.1_Missense_Mutation_p.R194K|KCNQ5_ENST00000370398.1_Missense_Mutation_p.R194K|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R194K|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R194K	p.R194K	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	3	979	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	194					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.581G>A	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	G	33	5.258154	0.95368	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165;ENST00000443915;ENST00000441538	D;D;D;D;D;D;D;D;D;D	0.99552	-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-6.15;-4.38	6.17	5.3	0.74995	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99318	0.9761	L	0.52364	1.645	0.48696	D	0.999691	P;D;D;D;D;D	0.89917	0.953;0.999;0.998;0.997;1.0;0.997	P;D;D;D;D;D	0.83275	0.859;0.987;0.983;0.989;0.996;0.98	D	0.99338	1.0911	10	0.39692	T	0.17	.	16.9456	0.86229	0.0:0.0:0.8711:0.1289	.	194;194;194;194;194;194	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	K	194;194;194;194;194;194;194;194;194;32;31	ENSP00000345055:R194K;ENSP00000347326:R194K;ENSP00000359425:R194K;ENSP00000359419:R194K;ENSP00000385501:R194K;ENSP00000347853:R194K;ENSP00000384453:R194K;ENSP00000409861:R194K;ENSP00000414829:R32K;ENSP00000391971:R31K	ENSP00000345055:R194K	R	+	2	0	KCNQ5	73808471	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	1.602000	0.50124	0.655000	0.94253	AGA		0.428	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		54	858	0	0	0	1	0	54	858				
DCAF6	55827	broad.mit.edu	37	1	168034905	168034905	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:168034905G>A	ENST00000312263.6	+	16	2448	c.2244G>A	c.(2242-2244)cgG>cgA	p.R748R	DCAF6_ENST00000367843.3_Silent_p.R768R|DCAF6_ENST00000367840.3_Silent_p.R839R|DCAF6_ENST00000432587.2_Silent_p.R808R	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	748					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TCTGGGATCGGCACACTGCTG	0.413																																						ENST00000367840.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(2515-2517)cgG>cgA		DDB1 and CUL4 associated factor 6							75.0	72.0	73.0					1																	168034905		2203	4300	6503	SO:0001819	synonymous_variant	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:168034905G>A	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.2244G>A	1.37:g.168034905G>A						DCAF6_ENST00000312263.6_Silent_p.R748R|DCAF6_ENST00000432587.2_Silent_p.R808R|DCAF6_ENST00000367843.3_Silent_p.R768R	p.R839R	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN			19	2611	+			748					A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Silent	SNP	ENST00000312263.6	37	c.2517G>A	CCDS30933.1																																																																																				0.413	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442		5	397	0	0	0	1	0	5	397				
POLR3B	55703	broad.mit.edu	37	12	106826185	106826185	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:106826185G>A	ENST00000228347.4	+	15	1776	c.1554G>A	c.(1552-1554)ttG>ttA	p.L518L	POLR3B_ENST00000539066.1_Silent_p.L460L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	518					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CCAGTAACTTGGGAGTAGAAG	0.373																																						ENST00000228347.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(1552-1554)ttG>ttA		polymerase (RNA) III (DNA directed) polypeptide B							228.0	216.0	220.0					12																	106826185		2203	4300	6503	SO:0001819	synonymous_variant	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106826185G>A	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1554G>A	12.37:g.106826185G>A						POLR3B_ENST00000539066.1_Silent_p.L460L	p.L518L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			15	1776	+			518					A8K6H0|B3KV73|F5H1E6|Q9NW59	Silent	SNP	ENST00000228347.4	37	c.1554G>A	CCDS9105.1																																																																																				0.373	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		65	329	0	0	0	1	0	65	329				
PIK3CA	5290	broad.mit.edu	37	3	178951994	178951994	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:178951994G>A	ENST00000263967.3	+	21	3206	c.3049G>A	c.(3049-3051)Gat>Aat	p.D1017N	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1017	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|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)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|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 peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.D1017H(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ACAATCTTTTGATGACATTGC	0.393		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		4	Substitution - Missense(4)	p.D1017H(4)	central_nervous_system(2)|urinary_tract(1)|endometrium(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3049-3051)Gat>Aat		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							106.0	94.0	98.0					3																	178951994		1879	4117	5996	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178951994G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3049G>A	3.37:g.178951994G>A	ENSP00000263967:p.Asp1017Asn	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.D1017N	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3206	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1017			PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3049G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656347	0.88056	.	.	ENSG00000121879	ENST00000263967	T	0.80909	-1.43	6.07	6.07	0.98685	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.84674	0.5524	L	0.38733	1.17	0.80722	D	1	D	0.65815	0.995	P	0.60236	0.871	T	0.82768	-0.0294	10	0.41790	T	0.15	-22.9512	20.6525	0.99598	0.0:0.0:1.0:0.0	.	1017	P42336	PK3CA_HUMAN	N	1017	ENSP00000263967:D1017N	ENSP00000263967:D1017N	D	+	1	0	PIK3CA	180434688	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.301000	0.96167	2.890000	0.99128	0.585000	0.79938	GAT		0.393	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			174	243	0	0	0	1	0	174	243				
HEATR2	54919	broad.mit.edu	37	7	803512	803512	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:803512C>G	ENST00000297440.6	+	8	1704	c.1684C>G	c.(1684-1686)Cac>Gac	p.H562D	HEATR2_ENST00000313147.5_Missense_Mutation_p.H562D	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	562						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CTACCGCAAGCACATTGGTCC	0.607																																						ENST00000297440.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22						c.(1684-1686)Cac>Gac		HEAT repeat containing 2							151.0	128.0	136.0					7																	803512		2203	4300	6503	SO:0001583	missense	54919						protein binding	g.chr7:803512C>G	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.1684C>G	7.37:g.803512C>G	ENSP00000297440:p.His562Asp					HEATR2_ENST00000313147.5_Missense_Mutation_p.H562D	p.H562D	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	8	1704	+		Ovarian(82;0.0112)	562					Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	ENST00000297440.6	37	c.1684C>G	CCDS34580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.87|13.87	2.366824|2.366824	0.41902|0.41902	.|.	.|.	ENSG00000164818|ENSG00000164818	ENST00000440747|ENST00000297440;ENST00000313147;ENST00000537862	.|T;T	.|0.66280	.|-0.2;-0.2	5.03|5.03	3.23|3.23	0.37069|0.37069	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75376|0.75376	0.3841|0.3841	M|M	0.81239|0.81239	2.535|2.535	0.48975|0.48975	D|D	0.999731|0.999731	.|D;D	.|0.62365	.|0.973;0.991	.|P;P	.|0.60789	.|0.528;0.879	T|T	0.77349|0.77349	-0.2621|-0.2621	5|10	.|0.72032	.|D	.|0.01	-41.7014|-41.7014	11.5093|11.5093	0.50484|0.50484	0.0:0.8524:0.0:0.1476|0.0:0.8524:0.0:0.1476	.|.	.|562;308	.|Q86Y56;F5H8D4	.|HEAT2_HUMAN;.	G|D	363|562;562;308	.|ENSP00000297440:H562D;ENSP00000321451:H562D	.|ENSP00000297440:H562D	A|H	+|+	2|1	0|0	HEATR2|HEATR2	770038|770038	0.998000|0.998000	0.40836|0.40836	0.018000|0.018000	0.16275|0.16275	0.082000|0.082000	0.17680|0.17680	3.409000|3.409000	0.52657|0.52657	0.630000|0.630000	0.30394|0.30394	-0.254000|-0.254000	0.11334|0.11334	GCA|CAC		0.607	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		287	445	0	0	0	1	0	287	445				
KBTBD6	89890	broad.mit.edu	37	13	41705440	41705440	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:41705440G>T	ENST00000379485.1	-	1	1442	c.1208C>A	c.(1207-1209)aCa>aAa	p.T403K	KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	403								p.T403K(7)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CCAGAGGTCTGTCCTGGGCTG	0.507																																						ENST00000379485.1																			7	Substitution - Missense(7)	p.T403K(7)	prostate(2)|skin(2)|NS(1)|kidney(1)|endometrium(1)	NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(1207-1209)aCa>aAa		kelch repeat and BTB (POZ) domain containing 6							112.0	104.0	107.0					13																	41705440		2203	4300	6503	SO:0001583	missense	89890						protein binding	g.chr13:41705440G>T	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1208C>A	13.37:g.41705440G>T	ENSP00000368799:p.Thr403Lys					KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	p.T403K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1442	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	403					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.1208C>A	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	0.018	-1.482688	0.01027	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.64618	-0.11;-0.11	3.8	1.18	0.20946	Kelch-type beta propeller (1);	0.117488	0.53938	N	0.000042	T	0.17066	0.0410	N	0.00260	-1.75	0.27866	N	0.940205	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39313	-0.9620	10	0.02654	T	1	.	5.3509	0.16036	0.0:0.1047:0.1871:0.7082	.	337;403	F5GZN7;Q86V97	.;KBTB6_HUMAN	K	403;337	ENSP00000368799:T403K;ENSP00000444326:T337K	ENSP00000368799:T403K	T	-	2	0	KBTBD6	40603440	1.000000	0.71417	0.993000	0.49108	0.691000	0.40173	3.048000	0.49862	0.145000	0.18977	-0.521000	0.04368	ACA		0.507	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		13	1037	1	0	0.000422831	1	0.000431967	13	1037				
EGLN2	112398	broad.mit.edu	37	19	41307036	41307036	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:41307036C>T	ENST00000593726.1	+	1	1587	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	EGLN2_ENST00000594140.1_5'Flank|CTC-490E21.12_ENST00000601627.1_5'Flank|EGLN2_ENST00000406058.2_Missense_Mutation_p.R187W|EGLN2_ENST00000303961.4_Missense_Mutation_p.R187W|RAB4B-EGLN2_ENST00000594136.1_3'UTR			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	187					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|intracellular estrogen receptor signaling pathway (GO:0030520)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|positive regulation of protein catabolic process (GO:0045732)|regulation of cell growth (GO:0001558)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-proline 4-dioxygenase activity (GO:0031545)	p.R187W(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	GCCCTGCATGCGGTACTACGG	0.692																																						ENST00000593726.1																			1	Substitution - Missense(1)	p.R187W(1)	ovary(1)	breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						c.(559-561)Cgg>Tgg		egl-9 family hypoxia-inducible factor 2	Vitamin C(DB00126)						79.0	85.0	83.0					19																	41307036		2203	4299	6502	SO:0001583	missense	112398				cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity	g.chr19:41307036C>T	AJ310544	CCDS12567.1	19q13.2	2013-08-21	2013-08-21		ENSG00000269858	ENSG00000269858			14660	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 1"""	606424	"""EGL nine (C.elegans) homolog 2"", ""egl nine homolog 2 (C. elegans)"""				Standard	NM_080732		Approved	PHD1, HIFPH1	uc002oph.3	Q96KS0		ENST00000593726.1:c.559C>T	19.37:g.41307036C>T	ENSP00000469686:p.Arg187Trp					RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000406058.2_Missense_Mutation_p.R187W|EGLN2_ENST00000303961.4_Missense_Mutation_p.R187W	p.R187W			Q96KS0	EGLN2_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		1	1587	+			187					A8K5S0|Q8WWY4|Q9BV14	Missense_Mutation	SNP	ENST00000593726.1	37	c.559C>T	CCDS12567.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688087	0.68271	.	.	ENSG00000171570	ENST00000303961;ENST00000406058	T;T	0.26223	1.75;1.75	4.16	3.1	0.35709	.	0.145189	0.42294	D	0.000737	T	0.34135	0.0887	L	0.34521	1.04	0.41426	D	0.987835	D	0.76494	0.999	D	0.65684	0.937	T	0.06625	-1.0816	10	0.51188	T	0.08	-11.9768	10.1844	0.42988	0.4904:0.5096:0.0:0.0	.	187	Q96KS0	EGLN2_HUMAN	W	187	ENSP00000307080:R187W;ENSP00000385253:R187W	ENSP00000307080:R187W	R	+	1	2	EGLN2	45998876	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.109000	0.31135	1.078000	0.41014	0.591000	0.81541	CGG		0.692	EGLN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463218.1			6	835	0	0	0	1	0	6	835				
MVP	9961	broad.mit.edu	37	16	29848107	29848107	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:29848107G>T	ENST00000357402.5	+	7	875	c.737G>T	c.(736-738)gGg>gTg	p.G246V	MVP_ENST00000452209.2_Missense_Mutation_p.W60C|MVP_ENST00000395353.1_Missense_Mutation_p.G246V	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	246					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CGCCGCACTGGGGAGGAGTGG	0.647																																						ENST00000357402.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						c.(736-738)gGg>gTg		major vault protein							46.0	46.0	46.0					16																	29848107		2197	4300	6497	SO:0001583	missense	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29848107G>T	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.737G>T	16.37:g.29848107G>T	ENSP00000349977:p.Gly246Val					MVP_ENST00000452209.2_Missense_Mutation_p.W60C|MVP_ENST00000395353.1_Missense_Mutation_p.G246V	p.G246V	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN			7	875	+			246					Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	c.737G>T	CCDS10656.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.48|15.48	2.845998|2.845998	0.51164|0.51164	.|.	.|.	ENSG00000013364|ENSG00000013364	ENST00000357402;ENST00000395353|ENST00000452209	T;T|T	0.50277|0.64991	0.75;0.75|-0.13	5.47|5.47	4.51|4.51	0.55191|0.55191	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81331|0.81331	0.4800|0.4800	M|M	0.92833|0.92833	3.35|3.35	0.50039|0.50039	D|D	0.999845|0.999845	D|.	0.89917|.	1.0|.	D|.	0.78314|.	0.991|.	D|D	0.85667|0.85667	0.1292|0.1292	10|7	0.87932|0.87932	D|D	0|0	-13.119|-13.119	12.5533|12.5533	0.56240|0.56240	0.0817:0.0:0.9183:0.0|0.0817:0.0:0.9183:0.0	.|.	246|.	Q14764|.	MVP_HUMAN|.	V|C	246|60	ENSP00000349977:G246V;ENSP00000378760:G246V|ENSP00000387916:W60C	ENSP00000349977:G246V|ENSP00000387916:W60C	G|W	+|+	2|3	0|0	MVP|MVP	29755608|29755608	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.950000|0.950000	0.60333|0.60333	7.661000|7.661000	0.83786|0.83786	1.435000|1.435000	0.47434|0.47434	0.462000|0.462000	0.41574|0.41574	GGG|TGG		0.647	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		21	262	1	0	2.39556e-15	1	2.56612e-15	21	262				
TG	7038	broad.mit.edu	37	8	134125688	134125688	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:134125688G>A	ENST00000220616.4	+	44	7635	c.7595G>A	c.(7594-7596)cGg>cAg	p.R2532Q	TG_ENST00000519543.1_Missense_Mutation_p.R665Q|TG_ENST00000542445.1_Missense_Mutation_p.R902Q|TG_ENST00000377869.1_Missense_Mutation_p.R2475Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2532					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)		AGTCGAGGCCGGACCAGTAGC	0.483																																						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.(7594-7596)cGg>cAg		thyroglobulin							72.0	79.0	77.0					8																	134125688		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134125688G>A	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.7595G>A	8.37:g.134125688G>A	ENSP00000220616:p.Arg2532Gln					TG_ENST00000519543.1_Missense_Mutation_p.R665Q|TG_ENST00000377869.1_Missense_Mutation_p.R2475Q|TG_ENST00000542445.1_Missense_Mutation_p.R902Q	p.R2532Q	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)	44	7635	+	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)	2532					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.7595G>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686638	0.88639	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	4.83	4.83	0.62350	Carboxylesterase, type B (1);	0.497463	0.18205	N	0.148365	T	0.80336	0.4604	M	0.63428	1.95	0.37166	D	0.902838	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.77557	0.99;0.984;0.976	D	0.84497	0.0614	10	0.87932	D	0	.	17.2863	0.87142	0.0:0.0:1.0:0.0	.	665;902;2532	E7EVM0;F5GWW5;P01266	.;.;THYG_HUMAN	Q	2475;1338;2532;902;665	ENSP00000367100:R2475Q;ENSP00000220616:R2532Q;ENSP00000441693:R902Q;ENSP00000430430:R665Q	ENSP00000220616:R2532Q	R	+	2	0	TG	134194870	1.000000	0.71417	0.990000	0.47175	0.813000	0.45954	7.210000	0.77924	2.381000	0.81170	0.655000	0.94253	CGG		0.483	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		5	430	0	0	0	1	0	5	430				
TOP2B	7155	broad.mit.edu	37	3	25668727	25668727	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:25668727C>T	ENST00000264331.4	-	16	1966	c.1967G>A	c.(1966-1968)cGc>cAc	p.R656H	TOP2B_ENST00000435706.2_Missense_Mutation_p.R651H	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	656					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)	p.R651H(2)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	AAACAAGATGCGATGCCTTTC	0.353																																						ENST00000435706.2																			2	Substitution - Missense(2)	p.R651H(2)	large_intestine(2)	breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						c.(1951-1953)cGc>cAc		topoisomerase (DNA) II beta 180kDa							169.0	169.0	169.0					3																	25668727		1896	4110	6006	SO:0001583	missense	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25668727C>T	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.1967G>A	3.37:g.25668727C>T	ENSP00000264331:p.Arg656His					TOP2B_ENST00000264331.4_Missense_Mutation_p.R656H	p.R651H			Q02880	TOP2B_HUMAN			16	2153	-			656					Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37	c.1952G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.420360	0.96111	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.54479	0.57;0.57	5.47	5.47	0.80525	.	0.047426	0.85682	D	0.000000	T	0.79667	0.4485	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.83665	0.0163	10	0.72032	D	0.01	-11.4448	19.6613	0.95875	0.0:1.0:0.0:0.0	.	651	Q02880-2	.	H	651;656;651	ENSP00000396704:R651H;ENSP00000264331:R656H	ENSP00000264331:R656H	R	-	2	0	TOP2B	25643731	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.702000	0.84576	2.711000	0.92665	0.650000	0.86243	CGC		0.353	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				322	416	0	0	0	1	0	322	416				
ALG10B	144245	broad.mit.edu	37	12	38714204	38714204	+	Missense_Mutation	SNP	A	A	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:38714204A>T	ENST00000308742.4	+	3	927	c.611A>T	c.(610-612)aAg>aTg	p.K204M	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	204					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				ATTGCACAAAAGTTAACTGAG	0.388																																						ENST00000308742.4																			0				breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25						c.(610-612)aAg>aTg		ALG10B, alpha-1,2-glucosyltransferase							158.0	160.0	159.0					12																	38714204		2203	4299	6502	SO:0001583	missense	144245				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:38714204A>T	AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.611A>T	12.37:g.38714204A>T	ENSP00000310120:p.Lys204Met					ALG10B_ENST00000551464.1_Intron	p.K204M	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN			3	927	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	204					B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	c.611A>T	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	N	8.765	0.924554	0.18056	.	.	ENSG00000175548	ENST00000308742	T	0.57436	0.4	3.24	2.04	0.26737	.	0.095913	0.64402	D	0.000001	T	0.40767	0.1130	L	0.45285	1.41	0.41659	D	0.989174	P	0.35527	0.507	B	0.37550	0.253	T	0.13764	-1.0497	10	0.31617	T	0.26	.	7.0859	0.25257	0.8831:0.0:0.1169:0.0	.	204	Q5I7T1	AG10B_HUMAN	M	204	ENSP00000310120:K204M	ENSP00000310120:K204M	K	+	2	0	ALG10B	37000471	1.000000	0.71417	0.004000	0.12327	0.540000	0.34992	4.001000	0.57046	0.595000	0.29777	0.448000	0.29417	AAG		0.388	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		172	471	0	0	0	1	0	172	471				
RAB29	8934	broad.mit.edu	37	1	205741648	205741648	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:205741648G>A	ENST00000367139.3	-	3	475	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W	RAB7L1_ENST00000446390.2_Intron|RAB7L1_ENST00000437324.2_5'UTR|RAB7L1_ENST00000235932.4_Missense_Mutation_p.R58W|RAB7L1_ENST00000468887.1_Intron|RAB7L1_ENST00000414729.1_Missense_Mutation_p.R58W	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN		58					cell differentiation (GO:0030154)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|positive regulation of intracellular protein transport (GO:0090316)|protein transport (GO:0015031)|retrograde transport, plasma membrane to Golgi (GO:0035526)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AGCTGAAGCCGCACTATCTCG	0.373																																					Pancreas(25;658 872 27763 34889 38531)	ENST00000367139.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10						c.(172-174)Cgg>Tgg		RAB7, member RAS oncogene family-like 1							156.0	169.0	165.0					1																	205741648		2203	4300	6503	SO:0001583	missense	8934				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr1:205741648G>A																												ENST00000367139.3:c.172C>T	1.37:g.205741648G>A	ENSP00000356107:p.Arg58Trp					RAB7L1_ENST00000468887.1_Intron|RAB7L1_ENST00000437324.2_5'UTR|RAB7L1_ENST00000446390.2_Intron|RAB7L1_ENST00000414729.1_Missense_Mutation_p.R58W|RAB7L1_ENST00000235932.4_Missense_Mutation_p.R58W	p.R58W	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		3	475	-	Breast(84;0.0799)		58					B4E1K3|C9JE77	Missense_Mutation	SNP	ENST00000367139.3	37	c.172C>T	CCDS1459.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098539	0.56183	.	.	ENSG00000117280	ENST00000367139;ENST00000235932;ENST00000414729	T;T;T	0.77620	-1.11;-1.11;-1.11	5.29	3.31	0.37934	Small GTP-binding protein domain (1);	0.061028	0.64402	D	0.000015	D	0.89312	0.6679	M	0.91972	3.26	0.35934	D	0.83274	D	0.89917	1.0	D	0.85130	0.997	D	0.93256	0.6639	10	0.87932	D	0	-4.8893	12.3176	0.54966	0.0:0.0:0.5651:0.4349	.	58	O14966	RAB7L_HUMAN	W	58	ENSP00000356107:R58W;ENSP00000235932:R58W;ENSP00000402910:R58W	ENSP00000235932:R58W	R	-	1	2	RAB7L1	204008271	0.999000	0.42202	0.998000	0.56505	0.499000	0.33736	2.116000	0.41930	1.202000	0.43218	0.561000	0.74099	CGG		0.373	RAB7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087732.1			10	1700	0	0	0	1	0	10	1700				
MMS19	64210	broad.mit.edu	37	10	99219886	99219886	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:99219886G>A	ENST00000438925.2	-	26	2908	c.2573C>T	c.(2572-2574)gCc>gTc	p.A858V	MMS19_ENST00000370782.2_Missense_Mutation_p.A858V|MMS19_ENST00000327277.7_3'UTR|MMS19_ENST00000327238.10_Missense_Mutation_p.A760V|MMS19_ENST00000355839.6_Missense_Mutation_p.A815V	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	858					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		CCGCACTTCGGCATGGCCAGC	0.557								Direct reversal of damage																														ENST00000438925.2																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16						c.(2572-2574)gCc>gTc	Direct reversal of damage	MMS19 nucleotide excision repair homolog (S. cerevisiae)							95.0	83.0	87.0					10																	99219886		2203	4300	6503	SO:0001583	missense	64210				chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr10:99219886G>A	AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"""MET18 homolog (S. cerevisiae)"""	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.2573C>T	10.37:g.99219886G>A	ENSP00000412698:p.Ala858Val					MMS19_ENST00000370782.2_Missense_Mutation_p.A858V|MMS19_ENST00000355839.6_Missense_Mutation_p.A815V|MMS19_ENST00000327277.7_3'UTR|MMS19_ENST00000327238.10_Missense_Mutation_p.A760V	p.A858V	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)	26	2908	-		Colorectal(252;0.0846)	858					B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Missense_Mutation	SNP	ENST00000438925.2	37	c.2573C>T	CCDS7464.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.060836|5.060836	0.93846|0.93846	.|.	.|.	ENSG00000155229|ENSG00000155229	ENST00000438925;ENST00000370782;ENST00000327238;ENST00000422291;ENST00000355839|ENST00000434538	T;T;T;T|.	0.36157|.	1.27;1.27;1.27;1.27|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81936|0.81936	0.4928|0.4928	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	D;D;D;P;D|.	0.89917|.	1.0;1.0;1.0;0.803;1.0|.	D;D;D;P;D|.	0.91635|.	0.983;0.999;0.999;0.54;0.983|.	T|T	0.81703|0.81703	-0.0812|-0.0812	10|5	0.30078|.	T|.	0.28|.	.|.	19.7171|19.7171	0.96127|0.96127	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	879;760;815;858;815|.	B4DQX2;Q96T76-5;F8W9Y2;Q96T76;B4E2I3|.	.;.;.;MMS19_HUMAN;.|.	V|S	858;858;760;837;815|433	ENSP00000412698:A858V;ENSP00000359818:A858V;ENSP00000320059:A760V;ENSP00000348097:A815V|.	ENSP00000320059:A760V|.	A|P	-|-	2|1	0|0	MMS19|MMS19	99209876|99209876	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.919000|0.919000	0.55068|0.55068	9.249000|9.249000	0.95470|0.95470	2.665000|2.665000	0.90641|0.90641	0.591000|0.591000	0.81541|0.81541	GCC|CCG		0.557	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049706.2			6	504	0	0	0	1	0	6	504				
LOC220729	220729	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C	rs371325185	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398													g|||	29	0.00579073	0.0008	0.0072	5008	,	,		22210	0.002		0.0109	False		,,,				2504	0.0102					ENST00000418868.1																			0																																																			0							g.chr3:197348739G>C																													3.37:g.197348739G>C								NR_003266.2						0	520	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.398	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			8	521	0	0	0	1	0	8	521				
DST	667	broad.mit.edu	37	6	56472575	56472575	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:56472575C>T	ENST00000361203.3	-	36	6225	c.6218G>A	c.(6217-6219)tGt>tAt	p.C2073Y	DST_ENST00000370754.5_Missense_Mutation_p.C2251Y|DST_ENST00000446842.2_Missense_Mutation_p.C1747Y|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.C2073Y|DST_ENST00000370769.4_Missense_Mutation_p.C2073Y			Q03001	DYST_HUMAN	dystonin	2073					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGGTTCTCCACAGTGACATTT	0.338																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(6751-6753)tGt>tAt		dystonin							105.0	106.0	105.0					6																	56472575		1868	4111	5979	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56472575C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.6218G>A	6.37:g.56472575C>T	ENSP00000354508:p.Cys2073Tyr					DST_ENST00000370769.4_Missense_Mutation_p.C2073Y|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.C2073Y|DST_ENST00000446842.2_Missense_Mutation_p.C1747Y|DST_ENST00000361203.3_Missense_Mutation_p.C2073Y	p.C2251Y			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		39	6751	-	Lung NSC(77;0.103)		2073					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.6752G>A		.	.	.	.	.	.	.	.	.	.	C	0.067	-1.209747	0.01555	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;T;T;T	0.80738	0.07;0.07;1.02;-1.41;0.04;-0.19	5.59	-2.76	0.05896	.	1.653060	0.03229	N	0.178654	T	0.27731	0.0682	.	.	.	0.25284	N	0.98942	B	0.02656	0.0	B	0.06405	0.002	T	0.39251	-0.9623	8	0.02654	T	1	.	5.2208	0.15368	0.2727:0.1757:0.0:0.5516	.	1747	Q03001-9	.	Y	2251;2073;1747;2073;2073;1747	ENSP00000359790:C2251Y;ENSP00000359805:C2073Y;ENSP00000393645:C1747Y;ENSP00000307959:C2073Y;ENSP00000354508:C2073Y;ENSP00000404924:C1747Y	ENSP00000307959:C2073Y	C	-	2	0	DST	56580534	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.874000	0.04210	-0.181000	0.10619	0.563000	0.77884	TGT		0.338	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		198	272	0	0	0	1	0	198	272				
SH2D4B	387694	broad.mit.edu	37	10	82331253	82331253	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:82331253C>T	ENST00000470604.2	+	3	411	c.411C>T	c.(409-411)atC>atT	p.I137I	SH2D4B_ENST00000339284.2_Silent_p.I138I|SH2D4B_ENST00000313455.4_Silent_p.I89I			Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	137	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			AAGCCCGGATCTTGGCGGAGA	0.557																																						ENST00000339284.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13						c.(412-414)atC>atT		SH2 domain containing 4B							77.0	72.0	73.0					10																	82331253		2203	4300	6503	SO:0001819	synonymous_variant	387694							g.chr10:82331253C>T		CCDS7370.1, CCDS44449.1	10q23.1	2013-02-14			ENSG00000178217	ENSG00000178217		"""SH2 domain containing"""	31440	protein-coding gene	gene with protein product							Standard	NM_207372		Approved		uc001kck.1	Q5SQS7	OTTHUMG00000018617	ENST00000470604.2:c.411C>T	10.37:g.82331253C>T						SH2D4B_ENST00000313455.4_Silent_p.I89I|SH2D4B_ENST00000470604.2_Silent_p.I137I	p.I138I	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	Colorectal(32;0.229)		3	844	+			137			Glu-rich.		Q5SQS5|Q6ZVW9|Q6ZVZ3	Silent	SNP	ENST00000470604.2	37	c.414C>T																																																																																					0.557	SH2D4B-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_351984		66	465	0	0	0	1	0	66	465				
TPTE	7179	broad.mit.edu	37	21	10916473	10916473	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	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_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Missense_Mutation_p.K353N	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_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Missense_Mutation_p.K353N	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			6	431	1	0	0.00116845	1	0.00119002	6	431				
DISP1	84976	broad.mit.edu	37	1	223176649	223176649	+	Missense_Mutation	SNP	C	C	T	rs148231227		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:223176649C>T	ENST00000284476.6	+	8	2074	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	637	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.A637V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GGGGTTTATGCGGGGACAGCT	0.448													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21104	0.0		0.0	False		,,,				2504	0.0					ENST00000284476.6																			1	Substitution - Missense(1)	p.A637V(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(1909-1911)gCg>gTg		dispatched homolog 1 (Drosophila)							117.0	107.0	111.0					1																	223176649		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223176649C>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1910C>T	1.37:g.223176649C>T	ENSP00000284476:p.Ala637Val						p.A637V	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	2074	+			637			SSD.		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.1910C>T	CCDS1536.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.67	2.902435	0.52227	.	.	ENSG00000154309	ENST00000284476	D	0.90900	-2.75	5.91	5.91	0.95273	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.95284	0.8470	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.94353	0.7581	10	0.49607	T	0.09	-33.4464	20.2983	0.98569	0.0:1.0:0.0:0.0	.	637	Q96F81	DISP1_HUMAN	V	637	ENSP00000284476:A637V	ENSP00000284476:A637V	A	+	2	0	DISP1	221243272	1.000000	0.71417	0.564000	0.28396	0.121000	0.20230	7.818000	0.86416	2.802000	0.96397	0.655000	0.94253	GCG		0.448	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		10	1250	0	0	0	1	0	10	1250				
TXNDC2	84203	broad.mit.edu	37	18	9887074	9887074	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr18:9887074G>A	ENST00000306084.6	+	2	797	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	TXNDC2_ENST00000357775.5_Missense_Mutation_p.E133K|TXNDC2_ENST00000536353.2_Intron	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	200	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)			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						GTCCTCAGAAGAAGCCATCCA	0.577																																						ENST00000306084.6																			0				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.(598-600)Gaa>Aaa		thioredoxin domain containing 2 (spermatozoa)							152.0	154.0	153.0					18																	9887074		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.chr18:9887074G>A	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.598G>A	18.37:g.9887074G>A	ENSP00000304908:p.Glu200Lys					TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.E133K	p.E200K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	797	+			200			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.598G>A	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	g	1.272	-0.612710	0.03690	.	.	ENSG00000168454	ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.16457	2.34;2.34	3.48	-6.08	0.02151	.	1.613580	0.03995	N	0.295530	T	0.05456	0.0144	N	0.02539	-0.55	0.09310	N	1	B	0.18013	0.025	B	0.11329	0.006	T	0.34204	-0.9838	9	.	.	.	-1.8327	6.0796	0.19935	0.4735:0.3503:0.1761:0.0	.	200	Q86VQ3	TXND2_HUMAN	K	133;200;200	ENSP00000350419:E133K;ENSP00000304908:E200K	.	E	+	1	0	TXNDC2	9877074	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.583000	0.00904	-0.859000	0.04105	-0.300000	0.09419	GAA		0.577	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			9	1537	0	0	0	1	0	9	1537				
TRBV5-4	28611	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:142168862A>G	ENST00000454561.2	-	0	183									T cell receptor beta variable 5-4																		TGGGCCAGGCAGCACTGCACC	0.597																																						ENST00000454561.2																			0																				28.0	28.0	28.0					7																	142168862		1933	4131	6064			0							g.chr7:142168862A>G	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168862A>G														0	183	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.597	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		6	208	0	0	0	1	0	6	208				
SFMBT2	57713	broad.mit.edu	37	10	7218087	7218087	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:7218087G>A	ENST00000361972.4	-	17	1939	c.1849C>T	c.(1849-1851)Cgg>Tgg	p.R617W	SFMBT2_ENST00000397167.1_Missense_Mutation_p.R617W	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	617					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.R617G(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TCAGATGTCCGTACGATTTTG	0.468																																						ENST00000361972.4																			1	Substitution - Missense(1)	p.R617G(1)	breast(1)	NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.(1849-1851)Cgg>Tgg		Scm-like with four mbt domains 2							108.0	107.0	107.0					10																	7218087		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7218087G>A	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1849C>T	10.37:g.7218087G>A	ENSP00000355109:p.Arg617Trp					SFMBT2_ENST00000397167.1_Missense_Mutation_p.R617W	p.R617W	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN			17	1939	-			617					A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.1849C>T	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648095	0.67358	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.47528	0.84;0.84	5.96	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.68522	0.3010	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72868	-0.4162	10	0.72032	D	0.01	.	16.3303	0.83006	0.0:0.0:0.8669:0.1331	.	617	Q5VUG0	SMBT2_HUMAN	W	617	ENSP00000355109:R617W;ENSP00000380353:R617W	ENSP00000355109:R617W	R	-	1	2	SFMBT2	7258093	1.000000	0.71417	0.041000	0.18516	0.283000	0.27025	5.140000	0.64807	1.468000	0.48064	0.655000	0.94253	CGG		0.468	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		8	848	0	0	0	1	0	8	848				
TMEM255A	55026	broad.mit.edu	37	X	119425154	119425154	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chrX:119425154C>T	ENST00000309720.5	-	4	429	c.306G>A	c.(304-306)gcG>gcA	p.A102A	TMEM255A_ENST00000371369.4_Silent_p.A102A|TMEM255A_ENST00000440464.1_Silent_p.A102A	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	102						integral component of membrane (GO:0016021)											AACAAAAAGCCGCAATCACAC	0.468																																						ENST00000371369.4																			0											c.(304-306)gcG>gcA		transmembrane protein 255A							84.0	60.0	68.0					X																	119425154		2203	4300	6503	SO:0001819	synonymous_variant	55026							g.chrX:119425154C>T	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member A"""	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.306G>A	X.37:g.119425154C>T						TMEM255A_ENST00000440464.1_Silent_p.A102A|TMEM255A_ENST00000309720.5_Silent_p.A102A	p.A102A	NM_001104544.1	NP_001098014.1					4	532	-								A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Silent	SNP	ENST00000309720.5	37	c.306G>A	CCDS14597.1																																																																																				0.468	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938		68	14	0	0	0	1	0	68	14				
TCHH	7062	broad.mit.edu	37	1	152082377	152082377	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:152082377G>A	ENST00000368804.1	-	2	3315	c.3316C>T	c.(3316-3318)Cgg>Tgg	p.R1106W		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1106	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCTCTCCCGCTCCTGGCGC	0.617																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(3316-3318)Cgg>Tgg		trichohyalin							91.0	94.0	93.0					1																	152082377		1973	4135	6108	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082377G>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3316C>T	1.37:g.152082377G>A	ENSP00000357794:p.Arg1106Trp						p.R1106W	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3315	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1106			10 X 30 AA tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.3316C>T	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	G	6.458	0.452668	0.12283	.	.	ENSG00000159450	ENST00000368804	T	0.12569	2.67	3.07	1.05	0.20165	.	.	.	.	.	T	0.02533	0.0077	L	0.27053	0.805	0.09310	N	1	D	0.63880	0.993	B	0.41135	0.348	T	0.34054	-0.9844	9	0.59425	D	0.04	.	1.5685	0.02609	0.1306:0.2115:0.4418:0.216	.	1106	Q07283	TRHY_HUMAN	W	1106	ENSP00000357794:R1106W	ENSP00000357794:R1106W	R	-	1	2	TCHH	150349001	0.000000	0.05858	0.002000	0.10522	0.028000	0.11728	0.401000	0.20948	0.038000	0.15604	0.462000	0.41574	CGG		0.617	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		8	1264	0	0	0	1	0	8	1264				
PCDHA12	56137	broad.mit.edu	37	5	140256419	140256419	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:140256419G>A	ENST00000398631.2	+	1	1362	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	454	Cadherin 4. {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(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCGCCTGCGTTCGCGCAGC	0.652																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1360-1362)gcG>gcA									107.0	108.0	108.0					5																	140256419		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140256419G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1362G>A	5.37:g.140256419G>A						PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron	p.A454A	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1362	+								O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.1362G>A	CCDS47285.1																																																																																				0.652	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		374	89	0	0	0	1	0	374	89				
PRG4	10216	broad.mit.edu	37	1	186276565	186276565	+	Missense_Mutation	SNP	A	A	G	rs558640103	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:186276565A>G	ENST00000445192.2	+	7	1759	c.1714A>G	c.(1714-1716)Acc>Gcc	p.T572A	PRG4_ENST00000367485.4_Missense_Mutation_p.T479A|PRG4_ENST00000367486.3_Missense_Mutation_p.T529A|PRG4_ENST00000367483.4_Missense_Mutation_p.T531A|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	572	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.T572A(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						TGCACCCACCACCCCCAAGAA	0.642													-|||	2	0.000399361	0.0008	0.0	5008	,	,		7951	0.0		0.001	False		,,,				2504	0.0					ENST00000445192.2																			1	Substitution - Missense(1)	p.T572A(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.(1714-1716)Acc>Gcc		proteoglycan 4							99.0	99.0	99.0					1																	186276565		2203	4297	6500	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276565A>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.1714A>G	1.37:g.186276565A>G	ENSP00000399679:p.Thr572Ala					PRG4_ENST00000367485.4_Missense_Mutation_p.T479A|PRG4_ENST00000367486.3_Missense_Mutation_p.T529A|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.T531A	p.T572A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1759	+			572			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.1714A>G	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	a	6.012	0.370698	0.11409	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05513	3.43;3.54;3.44;3.54	3.96	1.21	0.21127	.	.	.	.	.	T	0.06096	0.0158	L	0.49126	1.545	0.09310	N	1	B;B;B;B	0.18013	0.025;0.025;0.015;0.025	B;B;B;B	0.19666	0.026;0.026;0.011;0.026	T	0.42292	-0.9460	8	.	.	.	.	3.8704	0.09035	0.6441:0.2029:0.1531:0.0	.	438;479;572;531	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	A	529;438;531;479;572	ENSP00000356456:T529A;ENSP00000356453:T531A;ENSP00000356455:T479A;ENSP00000399679:T572A	.	T	+	1	0	PRG4	184543188	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.247000	0.18179	0.012000	0.14892	-0.559000	0.04183	ACC		0.642	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		15	914	0	0	0	1	0	15	914				
EGLN3	112399	broad.mit.edu	37	14	34419830	34419830	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr14:34419830G>A	ENST00000250457.3	-	1	457	c.129C>T	c.(127-129)gtC>gtT	p.V43V	EGLN3_ENST00000553215.1_Intron|EGLN3_ENST00000547327.2_Silent_p.V43V	NM_022073.3	NP_071356.1	Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	43					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein hydroxylation (GO:0018126)|regulation of cell proliferation (GO:0042127)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	CGCGCTCCAGGACGCAGTCGC	0.692																																					Esophageal Squamous(161;245 1904 13895 22565 30076)	ENST00000547327.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15						c.(127-129)gtC>gtT		egl-9 family hypoxia-inducible factor 3	Vitamin C(DB00126)						39.0	45.0	43.0					14																	34419830		2202	4298	6500	SO:0001819	synonymous_variant	112399				apoptosis	cytoplasm|nucleus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding	g.chr14:34419830G>A	AJ310545	CCDS9646.1	14q12	2013-08-21	2013-08-21		ENSG00000129521	ENSG00000129521			14661	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 3"""	606426	"""EGL nine (C.elegans) homolog 3"", ""egl nine homolog 3 (C. elegans)"""				Standard	NM_022073		Approved	PHD3, HIFPH3	uc001wsa.4	Q9H6Z9	OTTHUMG00000029498	ENST00000250457.3:c.129C>T	14.37:g.34419830G>A						EGLN3_ENST00000250457.3_Silent_p.V43V|EGLN3_ENST00000553215.1_Intron	p.V43V			Q9H6Z9	EGLN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	1	457	-	Breast(36;0.0303)|Hepatocellular(127;0.133)		43					Q2TA79|Q3B8N4|Q6P1R2	Silent	SNP	ENST00000250457.3	37	c.129C>T	CCDS9646.1																																																																																				0.692	EGLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276647.1			22	136	0	0	0	1	0	22	136				
ASXL3	80816	broad.mit.edu	37	18	31241680	31241680	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr18:31241680C>T	ENST00000269197.5	+	5	456	c.456C>T	c.(454-456)caC>caT	p.H152H		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	152					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCCAGCAGCACACCAAAAAGG	0.408																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(454-456)caC>caT		additional sex combs like 3 (Drosophila)							73.0	69.0	70.0					18																	31241680		1924	4147	6071	SO:0001819	synonymous_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31241680C>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.456C>T	18.37:g.31241680C>T							p.H152H	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			5	456	+			152					Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	c.456C>T	CCDS45847.1																																																																																				0.408	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			11	179	0	0	0	1	0	11	179				
SNHG1	23642	broad.mit.edu	37	11	62620497	62620497	+	RNA	SNP	C	C	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:62620497C>G	ENST00000384756.1	-	0	10				SNHG1_ENST00000364799.1_RNA|SNHG1_ENST00000516331.1_RNA|SNHG1_ENST00000384693.1_RNA|SNHG1_ENST00000383926.1_RNA|SNHG1_ENST00000363981.1_RNA|SNHG1_ENST00000365607.1_RNA|SNHG1_ENST00000384147.1_RNA|SNHG1_ENST00000384706.1_RNA	NR_000008.2				small nucleolar RNA host gene 1 (non-protein coding)																		GTGAAAGTTTCTTCATTGGGA	0.453																																						ENST00000384756.1																			0																				89.0	77.0	81.0					11																	62620497		874	1990	2864			0							g.chr11:62620497C>G	L36588		11q12.3	2013-07-02	2008-08-14		ENSG00000255717	ENSG00000255717		"""Long non-coding RNAs"", ""-"""	32688	non-coding RNA	RNA, long non-coding	"""U22 snoRNA host gene"", ""non-protein coding RNA 57"", ""long intergenic non-protein coding RNA 57"""	603222				8559254, 23801869	Standard	NR_003098		Approved	UHG, NCRNA00057, LINC00057	uc001nvt.3		OTTHUMG00000167743		11.37:g.62620497C>G								NR_000008.2						0	10	-									RNA	SNP	ENST00000384756.1	37																																																																																						0.453	SNHG1-208	KNOWN	basic	snoRNA	processed_transcript		NR_003098		32	306	0	0	0	1	0	32	306				
NRAP	4892	broad.mit.edu	37	10	115364582	115364582	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:115364582C>T	ENST00000359988.3	-	35	4257	c.4013G>A	c.(4012-4014)gGc>gAc	p.G1338D	NRAP_ENST00000369358.4_Missense_Mutation_p.G1346D|NRAP_ENST00000369360.3_Missense_Mutation_p.G1311D|NRAP_ENST00000360478.3_Missense_Mutation_p.G1303D	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CTGCAGCTGGCCCATGCGCCG	0.592																																						ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(4036-4038)gGc>gAc		nebulin-related anchoring protein							78.0	81.0	80.0					10																	115364582		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115364582C>T		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.4013G>A	10.37:g.115364582C>T	ENSP00000353078:p.Gly1338Asp					NRAP_ENST00000360478.3_Missense_Mutation_p.G1303D|NRAP_ENST00000369360.3_Missense_Mutation_p.G1311D|NRAP_ENST00000359988.3_Missense_Mutation_p.G1338D	p.G1346D			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	35	4281	-		Colorectal(252;0.0233)|Breast(234;0.188)	1338						Missense_Mutation	SNP	ENST00000359988.3	37	c.4037G>A	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210899	0.79240	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.68	5.68	0.88126	.	0.051170	0.85682	D	0.000000	T	0.52917	0.1764	M	0.69358	2.11	0.51767	D	0.999938	B;D;D;D	0.67145	0.012;0.996;0.995;0.992	B;D;D;D	0.73380	0.004;0.955;0.98;0.955	T	0.51180	-0.8738	10	0.54805	T	0.06	.	14.2644	0.66107	0.0:0.734:0.266:0.0	.	496;1338;1303;1338	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	D	1346;1311;1338;1303;496	ENSP00000358365:G1346D;ENSP00000358367:G1311D;ENSP00000353078:G1338D;ENSP00000353666:G1303D	ENSP00000353078:G1338D	G	-	2	0	NRAP	115354572	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.780000	0.38634	2.691000	0.91804	0.650000	0.86243	GGC		0.592	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		6	930	0	0	0	1	0	6	930				
GRINA	2907	broad.mit.edu	37	8	145066693	145066693	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:145066693A>G	ENST00000313269.5	+	6	1161	c.883A>G	c.(883-885)Atc>Gtc	p.I295V	GRINA_ENST00000395068.4_Missense_Mutation_p.I295V	NM_000837.1	NP_000828.1	Q7Z429	LFG1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	295						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTGCTCTTCATCTTCGCCAT	0.617																																						ENST00000313269.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9						c.(883-885)Atc>Gtc		glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)							123.0	95.0	105.0					8																	145066693		2203	4300	6503	SO:0001583	missense	2907					integral to membrane		g.chr8:145066693A>G	NM_001009184	CCDS34961.1	8q24.3	2010-03-18	2008-04-01						4589	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 3"""	138251		NMDARA1		1719427, 8406459	Standard	XM_005250899		Approved	HNRGW, TMBIM3, LFG1	uc003zao.1	Q7Z429		ENST00000313269.5:c.883A>G	8.37:g.145066693A>G	ENSP00000314380:p.Ile295Val					GRINA_ENST00000395068.4_Missense_Mutation_p.I295V	p.I295V	NM_000837.1	NP_000828.1	Q7Z429	GRINA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		6	1161	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		295					B3KXM7|O43836|Q8IVW7	Missense_Mutation	SNP	ENST00000313269.5	37	c.883A>G	CCDS34961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.48|10.48	1.363144|1.363144	0.24684|0.24684	.|.	.|.	ENSG00000178719|ENSG00000178719	ENST00000533044;ENST00000527194|ENST00000313269;ENST00000395068;ENST00000537637	.|T;T	.|0.41065	.|1.01;1.01	5.4|5.4	-5.08|-5.08	0.02929|0.02929	.|.	.|0.457240	.|0.23293	.|N	.|0.049778	T|T	0.15176|0.15176	0.0366|0.0366	N|N	0.12569|0.12569	0.235|0.235	0.22581|0.22581	N|N	0.998961|0.998961	.|B	.|0.19331	.|0.035	.|B	.|0.15870	.|0.014	T|T	0.29488|0.29488	-1.0010|-1.0010	5|10	.|0.10377	.|T	.|0.69	-14.2202|-14.2202	6.2907|6.2907	0.21059|0.21059	0.282:0.402:0.316:0.0|0.282:0.402:0.316:0.0	.|.	.|295	.|Q7Z429	.|GRINA_HUMAN	R|V	117;107|295;295;276	.|ENSP00000314380:I295V;ENSP00000378507:I295V	.|ENSP00000314380:I295V	H|I	+|+	2|1	0|0	GRINA|GRINA	145138681|145138681	0.000000|0.000000	0.05858|0.05858	0.104000|0.104000	0.21259|0.21259	0.997000|0.997000	0.91878|0.91878	-2.043000|-2.043000	0.01413|0.01413	-0.933000|-0.933000	0.03737|0.03737	0.529000|0.529000	0.55759|0.55759	CAT|ATC		0.617	GRINA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384048.1	NM_001009184		78	122	0	0	0	1	0	78	122				
LOC220729	220729	broad.mit.edu	37	3	197348634	197348634	+	RNA	SNP	G	G	C	rs370500896	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:197348634G>C	ENST00000418868.1	-	0	625					NR_003266.2																						CAGCAGCACCGATGGGCCTGC	0.542													G|||	18	0.00359425	0.0	0.0	5008	,	,		22692	0.0		0.001	False		,,,				2504	0.0174					ENST00000418868.1																			0																																																			0							g.chr3:197348634G>C																													3.37:g.197348634G>C								NR_003266.2						0	625	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.542	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			14	373	0	0	0	1	0	14	373				
DCLK2	166614	broad.mit.edu	37	4	151023709	151023709	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:151023709G>A	ENST00000296550.7	+	2	1255	c.501G>A	c.(499-501)gtG>gtA	p.V167V	DCLK2_ENST00000302176.8_Silent_p.V167V|DCLK2_ENST00000506325.1_Silent_p.V167V	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	167					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ACTGGTCTGTGAACATCAAGG	0.403																																					GBM(195;186 2215 13375 16801 37459)	ENST00000296550.7																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26						c.(499-501)gtG>gtA		doublecortin-like kinase 2							60.0	63.0	62.0					4																	151023709		2203	4300	6503	SO:0001819	synonymous_variant	166614				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity	g.chr4:151023709G>A	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.501G>A	4.37:g.151023709G>A						DCLK2_ENST00000302176.8_Silent_p.V167V|DCLK2_ENST00000506325.1_Silent_p.V167V	p.V167V	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN			2	1255	+	all_hematologic(180;0.151)		167					C9J5Q9|Q59GC8|Q8N399	Silent	SNP	ENST00000296550.7	37	c.501G>A	CCDS34076.1																																																																																				0.403	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	NM_001040260		26	176	0	0	0	1	0	26	176				
PODN	127435	broad.mit.edu	37	1	53543466	53543466	+	Missense_Mutation	SNP	C	C	G	rs371289481		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:53543466C>G	ENST00000312553.5	+	7	999	c.992C>G	c.(991-993)aCc>aGc	p.T331S	RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000371500.3_Missense_Mutation_p.T312S|PODN_ENST00000395871.2_Missense_Mutation_p.T189S	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	283					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GACAACGAGACCTTCTGGTGA	0.642																																						ENST00000371500.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(934-936)aCc>aGc		podocan							85.0	90.0	88.0					1																	53543466		2203	4300	6503	SO:0001583	missense	127435				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	g.chr1:53543466C>G	AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.992C>G	1.37:g.53543466C>G	ENSP00000308315:p.Thr331Ser					PODN_ENST00000312553.5_Missense_Mutation_p.T331S|PODN_ENST00000395871.2_Missense_Mutation_p.T189S|RP11-334A14.5_ENST00000447867.1_RNA	p.T312S	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN			9	1276	+			283					B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	37	c.935C>G	CCDS573.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232191	0.79688	.	.	ENSG00000174348	ENST00000371500;ENST00000395871;ENST00000312553	T;T;T	0.55234	0.53;0.53;0.53	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.57330	0.2046	N	0.12961	0.28	0.50813	D	0.999894	P;D;B	0.71674	0.532;0.998;0.332	B;D;P	0.81914	0.413;0.995;0.493	T	0.61192	-0.7112	10	0.40728	T	0.16	.	18.0832	0.89449	0.0:1.0:0.0:0.0	.	189;312;331	Q7Z5L7-4;Q7Z5L7-2;Q7Z5L7-3	.;.;.	S	312;189;331	ENSP00000360555:T312S;ENSP00000379212:T189S;ENSP00000308315:T331S	ENSP00000308315:T331S	T	+	2	0	PODN	53316054	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.125000	0.77193	2.477000	0.83638	0.561000	0.74099	ACC		0.642	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		47	240	0	0	0	1	0	47	240				
PIP4K2A	5305	broad.mit.edu	37	10	22862387	22862387	+	Splice_Site	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:22862387C>T	ENST00000376573.4	-	5	721		c.e5-1		PIP4K2A_ENST00000422321.1_Splice_Site|PIP4K2A_ENST00000545335.1_Splice_Site|PIP4K2A_ENST00000323883.7_Splice_Site	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha						megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CCACTATGTACTGCATAGGAG	0.373																																						ENST00000376573.4																			0				endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						c.e5-1		phosphatidylinositol-5-phosphate 4-kinase, type II, alpha							83.0	72.0	76.0					10																	22862387		2203	4300	6503	SO:0001630	splice_region_variant	5305						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding	g.chr10:22862387C>T	S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"""phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"""	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.493-1G>A	10.37:g.22862387C>T						PIP4K2A_ENST00000422321.1_Splice_Site|PIP4K2A_ENST00000323883.7_Splice_Site|PIP4K2A_ENST00000545335.1_Splice_Site		NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN			5	721	-								B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Splice_Site	SNP	ENST00000376573.4	37		CCDS7141.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485406	0.84854	.	.	ENSG00000150867	ENST00000376573;ENST00000323883;ENST00000545335;ENST00000422321;ENST00000376565	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7578	0.96301	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PIP4K2A	22902393	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.388000	0.79795	2.748000	0.94277	0.655000	0.94253	.		0.373	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1	NM_005028	Intron	87	216	0	0	0	1	0	87	216				
ARID5B	84159	broad.mit.edu	37	10	63851964	63851964	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:63851964G>A	ENST00000279873.7	+	10	3152	c.2742G>A	c.(2740-2742)ccG>ccA	p.P914P	ARID5B_ENST00000309334.5_Silent_p.P671P	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	914					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CCAAGAACCCGCACAAACCTA	0.572																																						ENST00000279873.7																			0				NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(2740-2742)ccG>ccA		AT rich interactive domain 5B (MRF1-like)							78.0	80.0	79.0					10																	63851964		2203	4300	6503	SO:0001819	synonymous_variant	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63851964G>A	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.2742G>A	10.37:g.63851964G>A						ARID5B_ENST00000309334.5_Silent_p.P671P	p.P914P	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN			10	3152	+	Prostate(12;0.016)|all_hematologic(501;0.215)		914					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Silent	SNP	ENST00000279873.7	37	c.2742G>A	CCDS31208.1																																																																																				0.572	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		8	1064	0	0	0	1	0	8	1064				
PRG4	10216	broad.mit.edu	37	1	186276564	186276564	+	Silent	SNP	C	C	T	rs534202903		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:186276564C>T	ENST00000445192.2	+	7	1758	c.1713C>T	c.(1711-1713)acC>acT	p.T571T	PRG4_ENST00000367485.4_Silent_p.T478T|PRG4_ENST00000367486.3_Silent_p.T528T|PRG4_ENST00000367483.4_Silent_p.T530T|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	571	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.T571T(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						CTGCACCCACCACCCCCAAGA	0.642													-|||	1	0.000199681	0.0	0.0	5008	,	,		7966	0.0		0.001	False		,,,				2504	0.0					ENST00000445192.2																			1	Substitution - coding silent(1)	p.T571T(1)	prostate(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.(1711-1713)acC>acT		proteoglycan 4							99.0	98.0	98.0					1																	186276564		2203	4297	6500	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276564C>T	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.1713C>T	1.37:g.186276564C>T						PRG4_ENST00000367485.4_Silent_p.T478T|PRG4_ENST00000367486.3_Silent_p.T528T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T530T	p.T571T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1758	+			571			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1713C>T	CCDS1369.1																																																																																				0.642	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		14	963	0	0	0	1	0	14	963				
ABCA13	154664	broad.mit.edu	37	7	48313734	48313734	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:48313734G>A	ENST00000435803.1	+	17	4495	c.4471G>A	c.(4471-4473)Gct>Act	p.A1491T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1491					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GATTTTATTAGCTCTTTTAAA	0.294																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(4471-4473)Gct>Act		ATP-binding cassette, sub-family A (ABC1), member 13							25.0	25.0	25.0					7																	48313734		1799	4053	5852	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48313734G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.4471G>A	7.37:g.48313734G>A	ENSP00000411096:p.Ala1491Thr						p.A1491T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	4495	+			1491					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.4471G>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	2.525	-0.309902	0.05458	.	.	ENSG00000179869	ENST00000435803	D	0.84589	-1.87	5.44	2.11	0.27256	.	0.308537	0.22285	N	0.062075	T	0.57373	0.2049	N	0.01800	-0.715	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.31138	-0.9954	9	.	.	.	.	3.223	0.06723	0.6327:0.0:0.1574:0.2098	.	1491	Q86UQ4	ABCAD_HUMAN	T	1491	ENSP00000411096:A1491T	.	A	+	1	0	ABCA13	48284280	0.195000	0.23338	1.000000	0.80357	0.964000	0.63967	1.733000	0.38156	0.211000	0.20683	0.563000	0.77884	GCT		0.294	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		48	76	0	0	0	1	0	48	76				
GOLT1A	127845	broad.mit.edu	37	1	204170871	204170871	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:204170871C>T	ENST00000308302.3	-	3	371	c.186G>A	c.(184-186)cgG>cgA	p.R62R	GOLT1A_ENST00000475517.1_5'Flank	NM_198447.1	NP_940849.1			golgi transport 1A									p.R62R(1)		kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			TGAGTTTGTGCCGTTGGAAGA	0.567																																						ENST00000308302.3																			1	Substitution - coding silent(1)	p.R62R(1)	urinary_tract(1)	kidney(1)|lung(2)|urinary_tract(1)	4						c.(184-186)cgG>cgA		golgi transport 1A							140.0	147.0	145.0					1																	204170871		2203	4300	6503	SO:0001819	synonymous_variant	127845				protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		g.chr1:204170871C>T	BC058832	CCDS1443.1	1q32.1	2010-06-24	2010-06-24		ENSG00000174567	ENSG00000174567			24766	protein-coding gene	gene with protein product			"""golgi transport 1 homolog A (S. cerevisiae)"""			12477932	Standard	NM_198447		Approved	FLJ42654, CGI-141, YMR292W, GOT1, MGC62027	uc001has.1	Q6ZVE7	OTTHUMG00000036056	ENST00000308302.3:c.186G>A	1.37:g.204170871C>T							p.R62R	NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)		3	371	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		62						Silent	SNP	ENST00000308302.3	37	c.186G>A	CCDS1443.1																																																																																				0.567	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1	NM_198447		7	1135	0	0	0	1	0	7	1135				
AKAP9	10142	broad.mit.edu	37	7	91674456	91674456	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:91674456C>A	ENST00000359028.2	+	22	5558	c.5333C>A	c.(5332-5334)tCt>tAt	p.S1778Y	AKAP9_ENST00000356239.3_Missense_Mutation_p.S1766Y|AKAP9_ENST00000358100.2_Missense_Mutation_p.S1778Y			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1778					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGCCAGTCATCTGCCAGCCTA	0.418			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(5332-5334)tCt>tAt		A kinase (PRKA) anchor protein 9							116.0	115.0	116.0					7																	91674456		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91674456C>A	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.5333C>A	7.37:g.91674456C>A	ENSP00000351922:p.Ser1778Tyr					AKAP9_ENST00000358100.2_Missense_Mutation_p.S1778Y|AKAP9_ENST00000356239.3_Missense_Mutation_p.S1766Y	p.S1778Y			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		22	5558	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1778					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.5333C>A		.	.	.	.	.	.	.	.	.	.	C	9.196	1.027183	0.19512	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120	T;T;T	0.03580	3.88;3.88;3.88	4.64	2.78	0.32641	.	0.383860	0.19323	N	0.117094	T	0.08891	0.0220	M	0.61703	1.905	0.09310	N	1	P;P;P	0.51351	0.906;0.944;0.944	P;P;P	0.51135	0.459;0.66;0.66	T	0.06534	-1.0821	10	0.87932	D	0	.	10.2829	0.43550	0.0:0.79:0.1354:0.0746	.	1778;1766;1766	Q99996;Q99996-2;Q99996-3	AKAP9_HUMAN;.;.	Y	1766;1778;1778;1778	ENSP00000348573:S1766Y;ENSP00000351922:S1778Y;ENSP00000350813:S1778Y	ENSP00000348573:S1766Y	S	+	2	0	AKAP9	91512392	0.042000	0.20092	0.035000	0.18076	0.487000	0.33371	1.006000	0.29847	0.657000	0.30906	0.650000	0.86243	TCT		0.418	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		252	306	1	0	6.46175e-136	1	7.12947e-136	252	306				
MCPH1	79648	broad.mit.edu	37	8	6301971	6301971	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:6301971G>T	ENST00000344683.5	+	8	804	c.728G>T	c.(727-729)gGa>gTa	p.G243V	MCPH1_ENST00000522905.1_Missense_Mutation_p.G195V|MCPH1_ENST00000519480.1_Missense_Mutation_p.G243V	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	243					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GGAAACTCAGGATGTGGAAAT	0.338																																					Colon(95;1448 1467 8277 34473 35819)	ENST00000344683.5																		AGPAT5/MCPH1(2)	0				central_nervous_system(1)|large_intestine(4)|skin(1)	6						c.(727-729)gGa>gTa		microcephalin 1							130.0	122.0	124.0					8																	6301971		1865	4104	5969	SO:0001583	missense	79648					microtubule organizing center		g.chr8:6301971G>T	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.728G>T	8.37:g.6301971G>T	ENSP00000342924:p.Gly243Val					MCPH1_ENST00000519480.1_Missense_Mutation_p.G243V|MCPH1_ENST00000522905.1_Missense_Mutation_p.G195V	p.G243V	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	8	804	+		Hepatocellular(245;0.0663)	243					B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Missense_Mutation	SNP	ENST00000344683.5	37	c.728G>T	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968033	0.53507	.	.	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	T;T;T	0.12361	2.69;2.69;2.69	4.15	-5.5	0.02576	.	2.693600	0.00817	N	0.001556	T	0.18923	0.0454	M	0.65975	2.015	0.09310	N	1	P;P;P	0.42518	0.782;0.754;0.627	B;P;B	0.47603	0.42;0.551;0.343	T	0.37820	-0.9689	10	0.56958	D	0.05	-0.9339	1.6608	0.02792	0.4421:0.2628:0.1627:0.1323	.	195;243;243	E9PH63;Q8NEM0;E9PGU5	.;MCPH1_HUMAN;.	V	243;243;195	ENSP00000342924:G243V;ENSP00000430962:G243V;ENSP00000430768:G195V	ENSP00000342924:G243V	G	+	2	0	MCPH1	6289379	0.000000	0.05858	0.000000	0.03702	0.479000	0.33129	-0.868000	0.04236	-1.093000	0.03058	-0.835000	0.03068	GGA		0.338	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		86	320	1	0	1.56177e-18	1	1.68937e-18	86	320				
DAP3	7818	broad.mit.edu	37	1	155686900	155686900	+	Missense_Mutation	SNP	G	G	A	rs149919712		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:155686900G>A	ENST00000368336.5	+	3	273	c.149G>A	c.(148-150)cGc>cAc	p.R50H	DAP3_ENST00000421487.2_Missense_Mutation_p.R50H|DAP3_ENST00000471642.2_Intron|DAP3_ENST00000465375.1_Missense_Mutation_p.R50H|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000343043.3_Missense_Mutation_p.R50H|DAP3_ENST00000535183.1_Intron|DAP3_ENST00000496863.1_3'UTR	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	50					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GCTATTTCCCGCACCAATGAG	0.473																																						ENST00000368336.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(148-150)cGc>cAc		death associated protein 3		G	HIS/ARG,HIS/ARG,,HIS/ARG,HIS/ARG	0,4406		0,0,2203	95.0	96.0	96.0		149,149,,149,149	4.3	1.0	1	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,intron,missense,missense	DAP3	NM_001199849.1,NM_001199850.1,NM_001199851.1,NM_004632.3,NM_033657.2	29,29,,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,,benign,benign	50/399,50/365,,50/399,50/399	155686900	1,13005	2203	4300	6503	SO:0001583	missense	7818				induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding	g.chr1:155686900G>A	X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.149G>A	1.37:g.155686900G>A	ENSP00000357320:p.Arg50His					DAP3_ENST00000535183.1_Intron|DAP3_ENST00000421487.2_Missense_Mutation_p.R50H|DAP3_ENST00000343043.3_Missense_Mutation_p.R50H|DAP3_ENST00000471214.1_3'UTR|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron	p.R50H	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN			3	273	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		50					B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Missense_Mutation	SNP	ENST00000368336.5	37	c.149G>A	CCDS1120.1	.	.	.	.	.	.	.	.	.	.	g	13.92	2.380775	0.42207	0.0	1.16E-4	ENSG00000132676	ENST00000368336;ENST00000343043;ENST00000421487	T;T;T	0.51574	0.7;0.7;0.73	5.2	4.27	0.50696	.	0.376195	0.29389	N	0.012299	T	0.28466	0.0704	M	0.67397	2.05	0.49389	D	0.999788	B;B;B	0.33883	0.111;0.111;0.43	B;B;B	0.21917	0.008;0.008;0.037	T	0.37753	-0.9692	10	0.62326	D	0.03	-1.3092	10.2787	0.43526	0.1459:0.0:0.8541:0.0	.	50;50;50	B4DY62;E7EM60;P51398	.;.;RT29_HUMAN	H	50	ENSP00000357320:R50H;ENSP00000341692:R50H;ENSP00000412605:R50H	ENSP00000341692:R50H	R	+	2	0	DAP3	153953524	0.564000	0.26602	0.971000	0.41717	0.650000	0.38633	2.796000	0.47869	2.698000	0.92095	0.591000	0.81541	CGC		0.473	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086042.1	NM_004632		8	1101	0	0	0	1	0	8	1101				
TTN	7273	broad.mit.edu	37	2	179546424	179546424	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:179546424G>A	ENST00000591111.1	-	134	32409	c.32185C>T	c.(32185-32187)Cca>Tca	p.P10729S	TTN_ENST00000342992.6_Missense_Mutation_p.P9802S|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P11046S|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	11690	Glu-rich.|Pro-rich.				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)			GTGGGAACTGGTTCTTCTGGG	0.383																																						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.(33136-33138)Cca>Tca		titin							144.0	137.0	139.0					2																	179546424		1812	4082	5894	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179546424G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.32185C>T	2.37:g.179546424G>A	ENSP00000465570:p.Pro10729Ser					TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P9802S|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P10729S|TTN-AS1_ENST00000589830.1_RNA	p.P11046S	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)		136	33360	-			10729			Glu-rich.|Pro-rich.		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.33136C>T		.	.	.	.	.	.	.	.	.	.	G	14.13	2.444945	0.43429	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	T;T	0.80994	-1.44;-0.02	5.53	5.53	0.82687	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	D	0.83622	0.5294	N	0.24115	0.695	0.80722	D	1	P;D	0.89917	0.856;1.0	P;D	0.71870	0.505;0.975	D	0.85682	0.1301	9	0.87932	D	0	.	18.0105	0.89221	0.0:0.0:1.0:0.0	.	10729;10465	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	S	9802;660	ENSP00000343764:P9802S;ENSP00000401501:P660S	ENSP00000343764:P9802S	P	-	1	0	TTN	179254669	0.514000	0.26202	0.997000	0.53966	0.978000	0.69477	2.942000	0.49018	2.775000	0.95449	0.585000	0.79938	CCA		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		27	465	0	0	0	1	0	27	465				
FXR1	8087	broad.mit.edu	37	3	180688069	180688069	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:180688069G>A	ENST00000357559.4	+	15	1910	c.1526G>A	c.(1525-1527)cGa>cAa	p.R509Q	FXR1_ENST00000491062.1_Missense_Mutation_p.R460Q|FXR1_ENST00000305586.7_Missense_Mutation_p.R424Q|FXR1_ENST00000468861.1_Missense_Mutation_p.R424Q|FXR1_ENST00000480918.1_Missense_Mutation_p.R496Q|FXR1_ENST00000445140.2_Missense_Mutation_p.R509Q	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	509	Poly-Arg.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TCTCGTAGACGAAGGACTGAT	0.443																																						ENST00000357559.4																			0				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26						c.(1525-1527)cGa>cAa		fragile X mental retardation, autosomal homolog 1							134.0	115.0	122.0					3																	180688069		2203	4300	6503	SO:0001583	missense	0				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180688069G>A	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.1526G>A	3.37:g.180688069G>A	ENSP00000350170:p.Arg509Gln					FXR1_ENST00000305586.7_Missense_Mutation_p.R424Q|FXR1_ENST00000445140.2_Missense_Mutation_p.R509Q|FXR1_ENST00000468861.1_Missense_Mutation_p.R424Q|FXR1_ENST00000491062.1_Missense_Mutation_p.R460Q|FXR1_ENST00000480918.1_Missense_Mutation_p.R496Q	p.R509Q	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		15	1910	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		509			Poly-Arg.		A8K9B8|Q7Z450|Q8N6R8	Missense_Mutation	SNP	ENST00000357559.4	37	c.1526G>A	CCDS3238.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.769247|5.769247	0.96914|0.96914	.|.	.|.	ENSG00000114416|ENSG00000114416	ENST00000482125|ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000480918	.|T;T;T;T;T;T	.|0.46063	.|1.26;1.13;0.89;0.88;0.88;1.01	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65015|0.65015	0.2651|0.2651	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999;1.0;0.997	.|D;D;D;D;D;D	.|0.87578	.|0.994;0.996;0.996;0.99;0.998;0.953	T|T	0.62393|0.62393	-0.6864|-0.6864	5|10	.|0.52906	.|T	.|0.07	-5.2416|-5.2416	20.3011|20.3011	0.98612|0.98612	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|496;460;424;453;509;509	.|B4DXZ6;E9PFF5;E7EU85;E7ERF5;P51114-2;P51114	.|.;.;.;.;.;FXR1_HUMAN	K|Q	110|509;424;460;424;509;496	.|ENSP00000350170:R509Q;ENSP00000307633:R424Q;ENSP00000420643:R460Q;ENSP00000420515:R424Q;ENSP00000388828:R509Q;ENSP00000418097:R496Q	.|ENSP00000307633:R424Q	E|R	+|+	1|2	0|0	FXR1|FXR1	182170763|182170763	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.476000|9.476000	0.97823|0.97823	2.804000|2.804000	0.96469|0.96469	0.650000|0.650000	0.86243|0.86243	GAA|CGA		0.443	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			26	418	0	0	0	1	0	26	418				
NPR2	4882	broad.mit.edu	37	9	35800075	35800075	+	Silent	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:35800075G>T	ENST00000342694.2	+	4	1299	c.1044G>T	c.(1042-1044)ctG>ctT	p.L348L		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	348					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CTGAAGTCCTGAATGAGACAA	0.502																																						ENST00000342694.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(1042-1044)ctG>ctT		natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)						161.0	157.0	158.0					9																	35800075		2203	4300	6503	SO:0001819	synonymous_variant	4882				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	g.chr9:35800075G>T	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.1044G>T	9.37:g.35800075G>T							p.L348L	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		4	1299	+	all_epithelial(49;0.161)		348					B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Silent	SNP	ENST00000342694.2	37	c.1044G>T	CCDS6590.1																																																																																				0.502	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			55	897	1	0	6.08268e-21	1	6.6012e-21	55	897				
THBD	7056	broad.mit.edu	37	20	23029062	23029062	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:23029062G>A	ENST00000377103.2	-	1	1316	c.1080C>T	c.(1078-1080)ggC>ggT	p.G360G		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	360	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|female pregnancy (GO:0007565)|leukocyte migration (GO:0050900)|negative regulation of blood coagulation (GO:0030195)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|response to cAMP (GO:0051591)|response to lipopolysaccharide (GO:0032496)|response to X-ray (GO:0010165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)	CCACACACTCGCCGTCCACCA	0.617																																						ENST00000377103.2																			0				endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7						c.(1078-1080)ggC>ggT		thrombomodulin	Drotrecogin alfa(DB00055)						69.0	57.0	61.0					20																	23029062		2203	4300	6503	SO:0001819	synonymous_variant	7056				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity	g.chr20:23029062G>A		CCDS13148.1	20p11.21	2014-09-17			ENSG00000178726	ENSG00000178726		"""CD molecules"""	11784	protein-coding gene	gene with protein product		188040					Standard	NM_000361		Approved	CD141	uc002wss.3	P07204	OTTHUMG00000032053	ENST00000377103.2:c.1080C>T	20.37:g.23029062G>A							p.G360G	NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN			1	1316	-	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		360			EGF-like 3; calcium-binding (Potential).		Q8IV29|Q9UC32	Silent	SNP	ENST00000377103.2	37	c.1080C>T	CCDS13148.1																																																																																				0.617	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078307.2			68	350	0	0	0	1	0	68	350				
ZNF780A	284323	broad.mit.edu	37	19	40580666	40580666	+	Silent	SNP	T	T	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:40580666T>C	ENST00000595687.2	-	6	1892	c.1683A>G	c.(1681-1683)gaA>gaG	p.E561E	ZNF780A_ENST00000455521.1_Silent_p.E562E|ZNF780A_ENST00000340963.5_Silent_p.E561E|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Silent_p.E562E|ZNF780A_ENST00000450241.2_Silent_p.E527E	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	561					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTTTCCCACATTCCTTACATT	0.388																																						ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1579-1581)gaA>gaG		zinc finger protein 780A							130.0	132.0	131.0					19																	40580666		2203	4300	6503	SO:0001819	synonymous_variant	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580666T>C	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1683A>G	19.37:g.40580666T>C						ZNF780A_ENST00000595687.2_Silent_p.E561E|ZNF780A_ENST00000594395.1_Silent_p.E562E|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Silent_p.E562E|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Silent_p.E561E	p.E527E			O75290	Z780A_HUMAN			6	1892	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		561					E9PB48|Q6ZN87	Silent	SNP	ENST00000595687.2	37	c.1581A>G	CCDS33026.2																																																																																				0.388	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		5	804	0	0	0	1	0	5	804				
TRPS1	7227	broad.mit.edu	37	8	116599641	116599641	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:116599641G>A	ENST00000220888.5	-	4	2407	c.2248C>T	c.(2248-2250)Cta>Tta	p.L750L	TRPS1_ENST00000519076.1_Silent_p.L504L|TRPS1_ENST00000395715.3_Silent_p.L763L|TRPS1_ENST00000519674.1_Silent_p.L750L|TRPS1_ENST00000520276.1_Silent_p.L754L			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	750	Mediates interaction with GLI3.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TCTGGAGTTAGCAGATTGTAG	0.498									Langer-Giedion syndrome																													ENST00000395715.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(2287-2289)Cta>Tta		trichorhinophalangeal syndrome I							195.0	201.0	199.0					8																	116599641		1946	4144	6090	SO:0001819	synonymous_variant	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116599641G>A	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2248C>T	8.37:g.116599641G>A						TRPS1_ENST00000520276.1_Silent_p.L754L|TRPS1_ENST00000220888.5_Silent_p.L750L|TRPS1_ENST00000519674.1_Silent_p.L750L|TRPS1_ENST00000519076.1_Silent_p.L504L	p.L763L	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		5	2864	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		750			Mediates interaction with GLI3.		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Silent	SNP	ENST00000220888.5	37	c.2287C>T																																																																																					0.498	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		164	1068	0	0	0	1	0	164	1068				
PRG4	10216	broad.mit.edu	37	1	186276075	186276075	+	Silent	SNP	T	T	C	rs540749159	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:186276075T>C	ENST00000445192.2	+	7	1269	c.1224T>C	c.(1222-1224)acT>acC	p.T408T	PRG4_ENST00000367485.4_Silent_p.T315T|PRG4_ENST00000367486.3_Silent_p.T365T|PRG4_ENST00000367483.4_Silent_p.T367T|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	408	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.T408T(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						CACCCACCACTCCCAAGGAGC	0.662													-|||	16	0.00319489	0.0053	0.0014	5008	,	,		9339	0.001		0.003	False		,,,				2504	0.0041					ENST00000445192.2																			1	Substitution - coding silent(1)	p.T408T(1)	kidney(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.(1222-1224)acT>acC		proteoglycan 4																																				SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276075T>C	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.1224T>C	1.37:g.186276075T>C						PRG4_ENST00000367485.4_Silent_p.T315T|PRG4_ENST00000367486.3_Silent_p.T365T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T367T	p.T408T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1269	+			408			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1224T>C	CCDS1369.1																																																																																				0.662	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		37	1213	0	0	0	1	0	37	1213				
RHOA	387	broad.mit.edu	37	3	49395482	49395482	+	IGR	SNP	G	G	C	rs201944086	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:49395482G>C	ENST00000418115.1	-	0	2031				GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419783.1_Missense_Mutation_p.P77R|GPX1_ENST00000419349.1_Missense_Mutation_p.P77R	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A						actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CTGGTTGCACGGGAAGCCGAG	0.726																																						ENST00000419783.1																			0				breast(1)|large_intestine(2)|lung(1)	4						c.(229-231)cCg>cGg		glutathione peroxidase 1	Glutathione(DB00143)						11.0	14.0	13.0					3																	49395482		1848	4061	5909	SO:0001628	intergenic_variant	2876				anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding	g.chr3:49395482G>C	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838		3.37:g.49395482G>C						GPX1_ENST00000419349.1_Missense_Mutation_p.P77R|GPX1_ENST00000496791.1_5'UTR	p.P77R	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	551	-			77					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.230C>G	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	G	36	5.745728	0.96882	.	.	ENSG00000233276	ENST00000419783;ENST00000419349	T;T	0.25085	1.82;1.82	5.88	5.88	0.94601	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.63070	0.2480	M	0.93150	3.385	0.80722	D	1	D;D	0.71674	0.998;0.988	D;P	0.68483	0.958;0.891	T	0.72279	-0.4340	10	0.87932	D	0	.	18.8152	0.92075	0.0:0.0:1.0:0.0	.	77;77	E9PAS1;P07203	.;GPX1_HUMAN	R	77	ENSP00000407375:P77R;ENSP00000391316:P77R	ENSP00000391316:P77R	P	-	2	0	GPX1	49370486	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.875000	0.87205	2.788000	0.95919	0.555000	0.69702	CCG		0.726	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		7	151	0	0	0	1	0	7	151				
NSL1	25936	broad.mit.edu	37	1	212911779	212911779	+	Missense_Mutation	SNP	G	G	A	rs147647532	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:212911779G>A	ENST00000366977.3	-	6	835	c.817C>T	c.(817-819)Cgg>Tgg	p.R273W	NSL1_ENST00000422588.2_3'UTR|NSL1_ENST00000366978.1_Intron|NSL1_ENST00000366975.6_Missense_Mutation_p.R232W	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	273					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		TTCTTTGGCCGCAATGGATAC	0.388													G|||	2	0.000399361	0.0008	0.0	5008	,	,		16960	0.0		0.001	False		,,,				2504	0.0					ENST00000366977.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9						c.(817-819)Cgg>Tgg		NSL1, MIS12 kinetochore complex component		G	,TRP/ARG	0,4406		0,0,2203	124.0	125.0	125.0		,817	4.6	0.9	1	dbSNP_134	125	1,8599	1.2+/-3.3	0,1,4299	yes	utr-3,missense	NSL1	NM_001042549.1,NM_015471.3	,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,probably-damaging	,273/282	212911779	1,13005	2203	4300	6503	SO:0001583	missense	25936				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr1:212911779G>A	AF255793	CCDS1509.1, CCDS73025.1	1q41	2013-07-03	2013-07-03	2006-11-07	ENSG00000117697	ENSG00000117697			24548	protein-coding gene	gene with protein product		609174	"""chromosome 1 open reading frame 48"", ""NSL1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C1orf48		20819937	Standard	NM_015471		Approved	DC8, DKFZP566O1646, MIS14	uc001hjn.3	Q96IY1	OTTHUMG00000036806	ENST00000366977.3:c.817C>T	1.37:g.212911779G>A	ENSP00000355944:p.Arg273Trp					NSL1_ENST00000366975.6_Missense_Mutation_p.R232W|NSL1_ENST00000366978.1_Intron|NSL1_ENST00000422588.2_3'UTR	p.R273W	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)	6	835	-			273					E7ETD5|Q5SY75|Q9H2M5|Q9NRN8|Q9Y415	Missense_Mutation	SNP	ENST00000366977.3	37	c.817C>T	CCDS1509.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.87	3.906807	0.72868	0.0	1.16E-4	ENSG00000117697	ENST00000366977;ENST00000366975	T;T	0.40225	1.06;1.04	5.51	4.59	0.56863	.	0.640836	0.15946	N	0.236960	T	0.61098	0.2320	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.65573	0.869;0.936	T	0.63559	-0.6610	10	0.87932	D	0	-7.7411	13.4969	0.61432	0.0:0.0:0.8436:0.1564	.	232;273	B4E071;Q96IY1	.;NSL1_HUMAN	W	273;232	ENSP00000355944:R273W;ENSP00000355942:R232W	ENSP00000355942:R232W	R	-	1	2	NSL1	210978402	0.903000	0.30736	0.875000	0.34327	0.896000	0.52359	1.110000	0.31147	1.447000	0.47661	0.650000	0.86243	CGG		0.388	NSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089398.2	NM_015471		7	1222	0	0	0	1	0	7	1222				
TP53INP1	94241	broad.mit.edu	37	8	95942776	95942776	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:95942776G>A	ENST00000342697.4	-	4	1061	c.654C>T	c.(652-654)tgC>tgT	p.C218C	NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000378776.4_Silent_p.C163C|TP53INP1_ENST00000448464.2_3'UTR	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	218					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)	p.C218C(2)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GCCGAGGGTGGCAATCCCTGG	0.468																																						ENST00000342697.4																			2	Substitution - coding silent(2)	p.C218C(2)	prostate(1)|kidney(1)	kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9						c.(652-654)tgC>tgT		tumor protein p53 inducible nuclear protein 1							199.0	207.0	204.0					8																	95942776		2203	4300	6503	SO:0001819	synonymous_variant	0				apoptosis	PML body		g.chr8:95942776G>A	AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.654C>T	8.37:g.95942776G>A						TP53INP1_ENST00000448464.2_3'UTR|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000378776.4_Silent_p.C163C	p.C218C	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN			4	1061	-	Breast(36;8.75e-07)		218					B2RCE5|Q969R9	Silent	SNP	ENST00000342697.4	37	c.654C>T	CCDS6265.1																																																																																				0.468	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379818.1			6	926	0	0	0	1	0	6	926				
SHANK1	50944	broad.mit.edu	37	19	51219944	51219944	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:51219944C>T	ENST00000293441.1	-	1	251	c.233G>A	c.(232-234)gGc>gAc	p.G78D	SHANK1_ENST00000359082.3_Missense_Mutation_p.G78D|SHANK1_ENST00000391814.1_Missense_Mutation_p.G78D	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	78					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GTCCGGGATGCCAATCCTGAA	0.632																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(232-234)gGc>gAc		SH3 and multiple ankyrin repeat domains 1							97.0	81.0	87.0					19																	51219944		2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51219944C>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.233G>A	19.37:g.51219944C>T	ENSP00000293441:p.Gly78Asp					SHANK1_ENST00000391814.1_Missense_Mutation_p.G78D|SHANK1_ENST00000359082.3_Missense_Mutation_p.G78D	p.G78D	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	1	251	-		all_neural(266;0.057)	78					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.233G>A	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754283	0.49362	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.39406	1.19;1.17;1.08	3.14	3.14	0.36123	.	0.578214	0.13868	U	0.357234	T	0.59376	0.2189	M	0.63843	1.955	0.51482	D	0.999926	D	0.89917	1.0	D	0.69654	0.965	T	0.59354	-0.7470	10	0.46703	T	0.11	.	13.4057	0.60911	0.0:1.0:0.0:0.0	.	78	Q9Y566	SHAN1_HUMAN	D	78	ENSP00000293441:G78D;ENSP00000351984:G78D;ENSP00000375690:G78D	ENSP00000293441:G78D	G	-	2	0	SHANK1	55911756	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.514000	0.60482	1.475000	0.48197	0.298000	0.19748	GGC		0.632	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		6	493	0	0	0	1	0	6	493				
NBPF10	100132406	broad.mit.edu	37	1	145324377	145324377	+	Missense_Mutation	SNP	C	C	A	rs77113202		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:145324377C>A	ENST00000342960.5	+	28	3607	c.3572C>A	c.(3571-3573)gCg>gAg	p.A1191E	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	778						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAGGTAGTAGCGCCTGAAGTC	0.483																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(3571-3573)gCg>gAg		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145324377C>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3572C>A	1.37:g.145324377C>A	ENSP00000345684:p.Ala1191Glu					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.A1191E	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	28	3607	+	all_hematologic(923;0.032)		1191					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.3572C>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.756002	0.00085	.	.	ENSG00000163386	ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00144	0.0004	N	0.00162	-1.95	0.09310	N	1	.	.	.	.	.	.	T	0.40534	-0.9558	5	0.02654	T	1	.	.	.	.	.	.	.	.	E	1191	ENSP00000345684:A1191E	ENSP00000345684:A1191E	A	+	2	0	NBPF10	144035734	0.004000	0.15560	0.001000	0.08648	0.000000	0.00434	0.161000	0.16481	-1.406000	0.02045	0.000000	0.15137	GCG		0.483	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		7	707	1	0	2.0095e-06	1	2.09165e-06	7	707				
SPATA18	132671	broad.mit.edu	37	4	52938112	52938112	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:52938112C>T	ENST00000295213.4	+	6	922	c.548C>T	c.(547-549)gCc>gTc	p.A183V	SPATA18_ENST00000419395.2_Missense_Mutation_p.A151V|SPATA18_ENST00000506829.1_3'UTR	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	183					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CAGGAGGATGCCCGCCACAGA	0.547																																						ENST00000295213.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(547-549)gCc>gTc		spermatogenesis associated 18							51.0	51.0	51.0					4																	52938112		2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52938112C>T	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.548C>T	4.37:g.52938112C>T	ENSP00000295213:p.Ala183Val					SPATA18_ENST00000506829.1_3'UTR|SPATA18_ENST00000419395.2_Missense_Mutation_p.A151V	p.A183V	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		6	922	+			183					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.548C>T	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.037735	0.54896	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	D;T	0.88509	-2.39;4.19	5.12	4.27	0.50696	.	0.926222	0.09388	N	0.809019	D	0.89996	0.6877	M	0.62723	1.935	0.09310	N	1	P;P;P	0.49559	0.72;0.72;0.925	B;B;P	0.49752	0.346;0.346;0.621	T	0.79325	-0.1850	10	0.30078	T	0.28	-3.0099	11.5713	0.50834	0.0:0.8206:0.1794:0.0	.	151;183;183	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	V	183;151	ENSP00000295213:A183V;ENSP00000415309:A151V	ENSP00000295213:A183V	A	+	2	0	SPATA18	52632869	0.035000	0.19736	0.026000	0.17262	0.030000	0.12068	1.814000	0.38972	1.360000	0.45960	0.650000	0.86243	GCC		0.547	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		4	185	0	0	0	1	0	4	185				
RMDN3	55177	broad.mit.edu	37	15	41043687	41043687	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:41043687G>T	ENST00000260385.6	-	3	1528	c.461C>A	c.(460-462)tCc>tAc	p.S154Y	RMDN3_ENST00000338376.3_Missense_Mutation_p.S154Y|RMDN3_ENST00000558560.1_5'UTR			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	154					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											GACAGAGCTGGAGCCAGTGGA	0.587																																						ENST00000260385.6																			0											c.(460-462)tCc>tAc		regulator of microtubule dynamics 3							87.0	87.0	87.0					15																	41043687		2203	4300	6503	SO:0001583	missense	55177							g.chr15:41043687G>T	AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"""family with sequence similarity 82, member A2"""	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.461C>A	15.37:g.41043687G>T	ENSP00000260385:p.Ser154Tyr					RMDN3_ENST00000558560.1_5'UTR|RMDN3_ENST00000338376.3_Missense_Mutation_p.S154Y	p.S154Y							3	1528	-								A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Missense_Mutation	SNP	ENST00000260385.6	37	c.461C>A	CCDS10063.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557716	0.86231	.	.	ENSG00000137824	ENST00000260385;ENST00000338376;ENST00000426872	T;T	0.44083	0.93;0.93	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.64962	0.2646	M	0.71581	2.175	0.51482	D	0.999929	D	0.89917	1.0	D	0.70935	0.971	T	0.68303	-0.5444	10	0.72032	D	0.01	-10.391	18.4611	0.90738	0.0:0.0:1.0:0.0	.	154	Q96TC7	RMD3_HUMAN	Y	154;154;91	ENSP00000260385:S154Y;ENSP00000342493:S154Y	ENSP00000260385:S154Y	S	-	2	0	FAM82A2	38830979	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.601000	0.82783	2.457000	0.83068	0.555000	0.69702	TCC		0.587	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1	NM_018145		351	68	1	0	5.12724e-156	1	5.69502e-156	351	68				
SMAD3	4088	broad.mit.edu	37	15	67482873	67482873	+	Nonstop_Mutation	SNP	A	A	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:67482873A>T	ENST00000327367.4	+	9	1587	c.1277A>T	c.(1276-1278)tAg>tTg	p.*426L	SMAD3_ENST00000439724.3_Nonstop_Mutation_p.*382L|SMAD3_ENST00000540846.2_Nonstop_Mutation_p.*321L|SMAD3_ENST00000537194.2_Nonstop_Mutation_p.*231L	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	0					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|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)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		AGTGTGTCTTAGAGACATCAA	0.537																																						ENST00000327367.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1276-1278)tAg>tTg		SMAD family member 3							51.0	44.0	46.0					15																	67482873		2201	4299	6500	SO:0001578	stop_lost	4088				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	g.chr15:67482873A>T	BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"""SMADs"""	6769	protein-coding gene	gene with protein product		603109	"""MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)"""	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.1277A>T	15.37:g.67482873A>T	ENSP00000332973:p.*426Leuext*6					SMAD3_ENST00000439724.3_Nonstop_Mutation_p.*382L|SMAD3_ENST00000540846.2_Nonstop_Mutation_p.*321L|SMAD3_ENST00000537194.2_Nonstop_Mutation_p.*231L	p.*426L	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)	9	1587	+			0					A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Nonstop_Mutation	SNP	ENST00000327367.4	37	c.1277A>T	CCDS10222.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.119602	0.77323	.	.	ENSG00000166949	ENST00000327367;ENST00000535241;ENST00000540846;ENST00000439724;ENST00000537194	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.22171	N	0.999318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6743	0.68967	1.0:0.0:0.0:0.0	.	.	.	.	L	426;426;321;382;231	.	.	X	+	2	0	SMAD3	65269927	1.000000	0.71417	0.994000	0.49952	0.924000	0.55760	9.224000	0.95209	1.880000	0.54463	0.459000	0.35465	TAG		0.537	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2	NM_005902		89	23	0	0	0	1	0	89	23				
ABCB11	8647	broad.mit.edu	37	2	169847419	169847419	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:169847419G>A	ENST00000263817.6	-	9	924	c.800C>T	c.(799-801)aCg>aTg	p.T267M		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	267	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CTCATAGTCCGTAAACTTGGA	0.403																																						ENST00000263817.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57						c.(799-801)aCg>aTg		ATP-binding cassette, sub-family B (MDR/TAP), member 11	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						118.0	115.0	116.0					2																	169847419		1861	4111	5972	SO:0001583	missense	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169847419G>A	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.800C>T	2.37:g.169847419G>A	ENSP00000263817:p.Thr267Met						p.T267M	NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN			9	924	-			267			ABC transmembrane type-1 1.		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.800C>T	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428609	0.83667	.	.	ENSG00000073734	ENST00000263817	D	0.90563	-2.69	5.4	5.4	0.78164	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96408	0.8828	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96809	0.9595	10	0.87932	D	0	1.906	19.5349	0.95247	0.0:0.0:1.0:0.0	.	267	O95342	ABCBB_HUMAN	M	267	ENSP00000263817:T267M	ENSP00000263817:T267M	T	-	2	0	ABCB11	169555665	1.000000	0.71417	0.982000	0.44146	0.806000	0.45545	9.779000	0.99018	2.687000	0.91594	0.563000	0.77884	ACG		0.403	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		5	595	0	0	0	1	0	5	595				
THBS1	7057	broad.mit.edu	37	15	39885651	39885651	+	Missense_Mutation	SNP	G	G	A	rs566389840		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:39885651G>A	ENST00000260356.5	+	19	3214	c.3049G>A	c.(3049-3051)Gaa>Aaa	p.E1017K	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1017	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CATCAACACCGAAAGGGACGA	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20601	0.0		0.0	False		,,,				2504	0.0					ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(3049-3051)Gaa>Aaa		thrombospondin 1	Becaplermin(DB00102)						205.0	208.0	207.0					15																	39885651		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39885651G>A		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3049G>A	15.37:g.39885651G>A	ENSP00000260356:p.Glu1017Lys						p.E1017K	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	19	3214	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	1017			TSP C-terminal.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.3049G>A	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364802	0.82463	.	.	ENSG00000137801	ENST00000260356	D	0.95171	-3.63	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.36628	N	0.002492	D	0.91566	0.7336	L	0.35854	1.095	0.80722	D	1	P;D	0.53619	0.911;0.961	B;B	0.40228	0.255;0.323	D	0.91634	0.5321	10	0.46703	T	0.11	-23.8437	19.9729	0.97289	0.0:0.0:1.0:0.0	.	932;1017	B4E3J7;P07996	.;TSP1_HUMAN	K	1017	ENSP00000260356:E1017K	ENSP00000260356:E1017K	E	+	1	0	THBS1	37672943	1.000000	0.71417	0.827000	0.32855	0.987000	0.75469	9.864000	0.99589	2.714000	0.92807	0.655000	0.94253	GAA		0.493	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		6	755	0	0	0	1	0	6	755				
GRIA4	2893	broad.mit.edu	37	11	105483022	105483022	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:105483022C>T	ENST00000530497.1	+	2	108	c.108C>T	c.(106-108)aaC>aaT	p.N36N	GRIA4_ENST00000393127.2_Silent_p.N36N|GRIA4_ENST00000525187.1_Silent_p.N36N|GRIA4_ENST00000428631.2_Silent_p.N36N|GRIA4_ENST00000527669.1_Silent_p.N36N|GRIA4_ENST00000393125.2_Silent_p.N36N|GRIA4_ENST00000282499.5_Silent_p.N36N			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	36					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	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)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	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(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		TCATCCGAAACACAGATCAGG	0.418																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(106-108)aaC>aaT		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						134.0	116.0	122.0					11																	105483022		2202	4299	6501	SO:0001819	synonymous_variant	0				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105483022C>T	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.108C>T	11.37:g.105483022C>T						GRIA4_ENST00000527669.1_Silent_p.N36N|GRIA4_ENST00000393125.2_Silent_p.N36N|GRIA4_ENST00000428631.2_Silent_p.N36N|GRIA4_ENST00000282499.5_Silent_p.N36N|GRIA4_ENST00000525187.1_Silent_p.N36N|GRIA4_ENST00000530497.1_Silent_p.N36N	p.N36N	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	3	554	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	36					Q86XE8	Silent	SNP	ENST00000530497.1	37	c.108C>T	CCDS8333.1																																																																																				0.418	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			20	315	0	0	0	1	0	20	315				
TCHH	7062	broad.mit.edu	37	1	152082220	152082220	+	Missense_Mutation	SNP	G	G	C	rs113946258	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:152082220G>C	ENST00000368804.1	-	2	3472	c.3473C>G	c.(3472-3474)cCg>cGg	p.P1158R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1158	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCTTCTCCGGTTCCTCTCT	0.592																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(3472-3474)cCg>cGg		trichohyalin							71.0	70.0	70.0					1																	152082220		1986	4171	6157	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082220G>C	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3473C>G	1.37:g.152082220G>C	ENSP00000357794:p.Pro1158Arg						p.P1158R	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3472	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1158			10 X 30 AA tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.3473C>G	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	g	1.340	-0.594289	0.03771	.	.	ENSG00000159450	ENST00000368804	T	0.04603	3.59	1.86	-3.72	0.04411	.	.	.	.	.	T	0.00412	0.0013	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45716	-0.9242	9	0.16420	T	0.52	.	1.558	0.02589	0.2814:0.2588:0.3346:0.1252	.	1158	Q07283	TRHY_HUMAN	R	1158	ENSP00000357794:P1158R	ENSP00000357794:P1158R	P	-	2	0	TCHH	150348844	0.000000	0.05858	0.024000	0.17045	0.006000	0.05464	-6.257000	0.00073	-1.230000	0.02561	-1.439000	0.01073	CCG		0.592	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		6	722	0	0	0	1	0	6	722				
NELFE	7936	broad.mit.edu	37	6	31922199	31922199	+	Missense_Mutation	SNP	G	G	A	rs542263058		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:31922199G>A	ENST00000375429.3	-	8	989	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W	NELFE_ENST00000375425.5_Missense_Mutation_p.R262W|MIR1236_ENST00000408340.1_RNA|NELFE_ENST00000444811.2_Missense_Mutation_p.R225W	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	255					gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										GGGGCTCGCCGTTCAGGGAAT	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20535	0.0		0.0	False		,,,				2504	0.0					ENST00000375429.3																			0											c.(763-765)Cgg>Tgg		negative elongation factor complex member E							93.0	86.0	88.0					6																	31922199		2203	4300	6503	SO:0001583	missense	7936							g.chr6:31922199G>A	M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"""RNA binding motif (RRM) containing"""	13974	protein-coding gene	gene with protein product		154040	"""RD RNA-binding protein"", ""RD RNA binding protein"""	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.763C>T	6.37:g.31922199G>A	ENSP00000364578:p.Arg255Trp					NELFE_ENST00000444811.2_Missense_Mutation_p.R225W|NELFE_ENST00000375425.5_Missense_Mutation_p.R262W	p.R255W	NM_002904.5	NP_002895.3					8	989	-								A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Missense_Mutation	SNP	ENST00000375429.3	37	c.763C>T	CCDS4730.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811057	0.70797	.	.	ENSG00000204356	ENST00000375429;ENST00000375425;ENST00000444811;ENST00000441998;ENST00000454913;ENST00000436289	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.42	4.36	0.52297	Nucleotide-binding, alpha-beta plait (1);	0.112301	0.64402	D	0.000012	T	0.38161	0.1030	L	0.38175	1.15	0.45194	D	0.998201	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.56474	0.799;0.799;0.799	T	0.27806	-1.0063	10	0.66056	D	0.02	-11.4519	13.973	0.64252	0.0885:0.0:0.9115:0.0	.	225;250;255	B4DUN1;E9PCL7;P18615	.;.;NELFE_HUMAN	W	255;262;225;250;255;250	ENSP00000364578:R255W;ENSP00000364574:R262W;ENSP00000388400:R225W;ENSP00000397914:R250W;ENSP00000409389:R255W	ENSP00000364574:R262W	R	-	1	2	RDBP	32030178	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	4.032000	0.57274	2.549000	0.85964	0.655000	0.94253	CGG		0.468	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076047.4			5	521	0	0	0	1	0	5	521				
MYO1G	64005	broad.mit.edu	37	7	45005372	45005372	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:45005372G>A	ENST00000258787.7	-	17	2381	c.2245C>T	c.(2245-2247)Cgg>Tgg	p.R749W		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	749						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						AGGTGAGCCCGCACCTTGTGT	0.682																																						ENST00000258787.7																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						c.(2245-2247)Cgg>Tgg		myosin IG							49.0	49.0	49.0					7																	45005372		2202	4300	6502	SO:0001583	missense	64005					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr7:45005372G>A	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.2245C>T	7.37:g.45005372G>A	ENSP00000258787:p.Arg749Trp						p.R749W	NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN			17	2381	-			749					Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	c.2245C>T	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.847487	0.71603	.	.	ENSG00000136286	ENST00000258787	T	0.77620	-1.11	4.22	4.22	0.49857	.	0.511740	0.14505	U	0.315482	D	0.86514	0.5951	M	0.78344	2.41	0.36113	D	0.844913	D	0.89917	1.0	D	0.73708	0.981	D	0.88899	0.3351	10	0.87932	D	0	.	9.9996	0.41920	0.0:0.0:0.6808:0.3192	.	749	B0I1T2	MYO1G_HUMAN	W	749	ENSP00000258787:R749W	ENSP00000258787:R749W	R	-	1	2	MYO1G	44971897	0.997000	0.39634	0.814000	0.32528	0.885000	0.51271	3.511000	0.53400	2.050000	0.60909	0.462000	0.41574	CGG		0.682	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			5	435	0	0	0	1	0	5	435				
INA	9118	broad.mit.edu	37	10	105048170	105048170	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:105048170C>T	ENST00000369849.4	+	3	1293	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	415	Tail.				cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TTAAGCATTTCGGGGCTGAAT	0.453																																						ENST00000369849.4																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13						c.(1243-1245)tCg>tTg		internexin neuronal intermediate filament protein, alpha							120.0	115.0	116.0					10																	105048170		2203	4300	6503	SO:0001583	missense	9118				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton	g.chr10:105048170C>T	S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"""Intermediate filaments type IV"""	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.1244C>T	10.37:g.105048170C>T	ENSP00000358865:p.Ser415Leu						p.S415L	NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN		Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	3	1293	+			415			Tail.		B1AQK0|Q9BRC5	Missense_Mutation	SNP	ENST00000369849.4	37	c.1244C>T	CCDS7545.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605805	0.46527	.	.	ENSG00000148798	ENST00000369849	D	0.84146	-1.81	5.17	3.31	0.37934	.	0.415688	0.24316	N	0.039593	T	0.70937	0.3281	N	0.19112	0.55	0.36157	D	0.847835	B	0.27264	0.173	B	0.18561	0.022	T	0.69698	-0.5075	10	0.72032	D	0.01	.	5.7714	0.18255	0.1578:0.6812:0.0:0.161	.	415	Q16352	AINX_HUMAN	L	415	ENSP00000358865:S415L	ENSP00000358865:S415L	S	+	2	0	INA	105038160	0.998000	0.40836	0.995000	0.50966	0.970000	0.65996	1.820000	0.39032	0.756000	0.33013	0.555000	0.69702	TCG		0.453	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	NM_032727		352	700	0	0	0	1	0	352	700				
COMT	1312	broad.mit.edu	37	22	19956208	19956208	+	Silent	SNP	C	C	T	rs201893998		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr22:19956208C>T	ENST00000361682.6	+	6	1147	c.765C>T	c.(763-765)gaC>gaT	p.D255D	COMT_ENST00000406520.3_Silent_p.D255D|COMT_ENST00000403710.1_Silent_p.D255D|COMT_ENST00000449653.1_Silent_p.D205D|COMT_ENST00000407537.1_Silent_p.D205D	NM_000754.3	NP_000745.1	P21964	COMT_HUMAN	catechol-O-methyltransferase	255					cellular response to phosphate starvation (GO:0016036)|dopamine catabolic process (GO:0042420)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|learning (GO:0007612)|methylation (GO:0032259)|multicellular organismal reproductive process (GO:0048609)|negative regulation of dopamine metabolic process (GO:0045963)|negative regulation of smooth muscle cell proliferation (GO:0048662)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|positive regulation of homocysteine metabolic process (GO:0050668)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	catechol O-methyltransferase activity (GO:0016206)|magnesium ion binding (GO:0000287)|O-methyltransferase activity (GO:0008171)			kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Methyldopa(DB00968)|Micafungin(DB01141)|S-Adenosylmethionine(DB00118)|Testosterone Propionate(DB01420)|Tolcapone(DB00323)	AGGTGGTGGACGGCCTGGAGA	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15485	0.0		0.0	False		,,,				2504	0.0					ENST00000361682.6																			0				kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5						c.(763-765)gaC>gaT		catechol-O-methyltransferase	Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)						75.0	63.0	67.0					22																	19956208		2203	4300	6503	SO:0001819	synonymous_variant	1312				neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding	g.chr22:19956208C>T		CCDS13770.1, CCDS46663.1	22q11.21	2012-10-02			ENSG00000093010	ENSG00000093010	2.1.1.6		2228	protein-coding gene	gene with protein product		116790				1572656	Standard	NM_000754		Approved		uc002zqu.3	P21964	OTTHUMG00000150529	ENST00000361682.6:c.765C>T	22.37:g.19956208C>T						COMT_ENST00000407537.1_Silent_p.D205D|COMT_ENST00000406520.3_Silent_p.D255D|COMT_ENST00000449653.1_Silent_p.D205D|COMT_ENST00000403710.1_Silent_p.D255D	p.D255D	NM_000754.3	NP_000745.1	P21964	COMT_HUMAN			6	1147	+	Colorectal(54;0.0993)		255					A8MPV9|Q6IB07|Q6ICE6|Q9BWC7	Silent	SNP	ENST00000361682.6	37	c.765C>T	CCDS13770.1																																																																																				0.647	COMT-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318936.2	NM_000754		6	288	0	0	0	1	0	6	288				
KCNC1	3746	broad.mit.edu	37	11	17794108	17794108	+	Silent	SNP	G	G	A	rs370905066		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:17794108G>A	ENST00000379472.3	+	2	1497	c.1467G>A	c.(1465-1467)ccG>ccA	p.P489P	KCNC1_ENST00000265969.6_Silent_p.P489P	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	489					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	ACACATGTCCGCTGGCCCAGG	0.478																																						ENST00000379472.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1465-1467)ccG>ccA		potassium voltage-gated channel, Shaw-related subfamily, member 1		G	,	0,4400		0,0,2200	53.0	58.0	56.0		1467,1467	5.2	1.0	11		56	2,8584	2.2+/-6.3	0,2,4291	no	coding-synonymous,coding-synonymous	KCNC1	NM_001112741.1,NM_004976.4	,	0,2,6491	AA,AG,GG		0.0233,0.0,0.0154	,	489/586,489/512	17794108	2,12984	2200	4293	6493	SO:0001819	synonymous_variant	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17794108G>A	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.1467G>A	11.37:g.17794108G>A						KCNC1_ENST00000265969.6_Silent_p.P489P	p.P489P	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN			2	1497	+			489					K4DI87	Silent	SNP	ENST00000379472.3	37	c.1467G>A	CCDS7827.1																																																																																				0.478	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		5	376	0	0	0	1	0	5	376				
LRG1	116844	broad.mit.edu	37	19	4538264	4538264	+	Silent	SNP	G	G	A	rs142530537		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:4538264G>A	ENST00000306390.6	-	2	1192	c.732C>T	c.(730-732)aaC>aaT	p.N244N	LRG1_ENST00000586883.1_5'Flank|CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	244					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTGTTGCCGTTCAGGAAGA	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		18865	0.001		0.0	False		,,,				2504	0.0					ENST00000306390.6																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(730-732)aaC>aaT		leucine-rich alpha-2-glycoprotein 1		G		0,4406		0,0,2203	163.0	178.0	173.0		732	-10.5	0.0	19	dbSNP_134	173	3,8597		0,3,4297	no	coding-synonymous	LRG1	NM_052972.2		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		244/348	4538264	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	116844					extracellular region|membrane		g.chr19:4538264G>A		CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.732C>T	19.37:g.4538264G>A						CTB-50L17.14_ENST00000586020.1_Intron	p.N244N	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1192	-		Hepatocellular(1079;0.137)	244					Q8N4F5|Q96QZ4	Silent	SNP	ENST00000306390.6	37	c.732C>T	CCDS12130.1																																																																																				0.592	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458654.2	NM_052972		9	1597	0	0	0	1	0	9	1597				
PKHD1	5314	broad.mit.edu	37	6	51618013	51618013	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:51618013C>T	ENST00000371117.3	-	57	9211	c.8936G>A	c.(8935-8937)cGa>cAa	p.R2979Q	PKHD1_ENST00000340994.4_Missense_Mutation_p.R2979Q	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2979					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAATTCTTCTCGGCTGGACTT	0.443																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(8935-8937)cGa>cAa		polycystic kidney and hepatic disease 1 (autosomal recessive)							86.0	88.0	87.0					6																	51618013		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51618013C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8936G>A	6.37:g.51618013C>T	ENSP00000360158:p.Arg2979Gln					PKHD1_ENST00000340994.4_Missense_Mutation_p.R2979Q	p.R2979Q	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			57	9211	-	Lung NSC(77;0.0605)		2979					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.8936G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	2.637	-0.284992	0.05605	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.81739	-1.53;-1.53	5.97	3.22	0.36961	.	0.741936	0.12773	N	0.440333	T	0.35278	0.0926	N	0.14661	0.345	0.09310	N	1	P;B;P	0.41784	0.652;0.096;0.762	B;B;B	0.32149	0.068;0.028;0.141	T	0.23404	-1.0189	10	0.10902	T	0.67	.	8.1549	0.31162	0.1351:0.7287:0.0:0.1363	.	2979;2979;2979	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	Q	2979	ENSP00000360158:R2979Q;ENSP00000341097:R2979Q	ENSP00000341097:R2979Q	R	-	2	0	PKHD1	51725972	0.011000	0.17503	0.005000	0.12908	0.115000	0.19883	2.559000	0.45888	0.410000	0.25675	-0.150000	0.13652	CGA		0.443	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		213	305	0	0	0	1	0	213	305				
CCT3	7203	broad.mit.edu	37	1	156287015	156287015	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:156287015G>A	ENST00000295688.3	-	10	1196	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W	CCT3_ENST00000368261.3_Missense_Mutation_p.R261W|CCT3_ENST00000368259.2_Missense_Mutation_p.R268W|CCT3_ENST00000472765.2_Missense_Mutation_p.R261W	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	306					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					ATATTGGCCCGCATAAGGTAG	0.438																																						ENST00000295688.3																			0				endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(916-918)Cgg>Tgg		chaperonin containing TCP1, subunit 3 (gamma)							156.0	149.0	152.0					1																	156287015		2203	4300	6503	SO:0001583	missense	7203				'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding	g.chr1:156287015G>A	BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"""Heat Shock Proteins / Chaperonins"""	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.916C>T	1.37:g.156287015G>A	ENSP00000295688:p.Arg306Trp					CCT3_ENST00000472765.2_Missense_Mutation_p.R261W|CCT3_ENST00000368259.2_Missense_Mutation_p.R268W|CCT3_ENST00000368261.3_Missense_Mutation_p.R261W	p.R306W	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN			10	1196	-	Hepatocellular(266;0.158)		306					A6NE14|Q5SZY1|Q9BR64	Missense_Mutation	SNP	ENST00000295688.3	37	c.916C>T	CCDS1140.2	.	.	.	.	.	.	.	.	.	.	G	16.09	3.024561	0.54683	.	.	ENSG00000163468	ENST00000295688;ENST00000368259;ENST00000368261;ENST00000472765	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	6.14	4.24	0.50183	.	0.127553	0.51477	N	0.000084	T	0.36853	0.0982	L	0.31371	0.925	0.43830	D	0.996403	B;B;B	0.23490	0.008;0.019;0.086	B;B;B	0.20184	0.008;0.007;0.028	T	0.40156	-0.9578	10	0.87932	D	0	-7.3889	9.5181	0.39117	0.0:0.1396:0.5712:0.2892	.	268;305;306	P49368-2;E9PAQ6;P49368	.;.;TCPG_HUMAN	W	306;268;261;261	ENSP00000295688:R306W;ENSP00000357242:R268W;ENSP00000357244:R261W;ENSP00000431543:R261W	ENSP00000295688:R306W	R	-	1	2	CCT3	154553639	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.121000	0.41977	0.888000	0.36160	-0.185000	0.12909	CGG		0.438	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3	NM_005998		7	816	0	0	0	1	0	7	816				
SMG1P5	595101	broad.mit.edu	37	16	30309813	30309813	+	RNA	SNP	C	C	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:30309813C>A	ENST00000411546.3	-	0	1014					NR_002453.4																						TTTGCTAAAACTCCACTTGAA	0.428																																						ENST00000411546.3																			0																																																			0							g.chr16:30309813C>A																													16.37:g.30309813C>A								NR_002453.4						0	1014	-									RNA	SNP	ENST00000411546.3	37																																																																																						0.428	RP11-347C12.2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000434110.1			6	80	1	0	1.06961e-07	1	1.12394e-07	6	80				
DLX3	1747	broad.mit.edu	37	17	48072343	48072343	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:48072343C>T	ENST00000434704.2	-	1	245	c.20G>A	c.(19-21)cGc>cAc	p.R7H	DLX3_ENST00000512495.2_5'Flank|RP11-1094H24.3_ENST00000511867.1_lincRNA	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	7					blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GCTGAGCTTGCGATCGAAGGA	0.647																																						ENST00000434704.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						c.(19-21)cGc>cAc		distal-less homeobox 3							40.0	37.0	38.0					17																	48072343		2203	4300	6503	SO:0001583	missense	1747					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:48072343C>T		CCDS11556.1	17q21.33	2011-06-20	2005-12-22			ENSG00000064195		"""Homeoboxes / ANTP class : NKL subclass"""	2916	protein-coding gene	gene with protein product		600525	"""distal-less homeo box 3"""			7613049	Standard	NM_005220		Approved		uc002ipy.3	O60479		ENST00000434704.2:c.20G>A	17.37:g.48072343C>T	ENSP00000389870:p.Arg7His						p.R7H	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN			1	245	-			7					B3KQL6	Missense_Mutation	SNP	ENST00000434704.2	37	c.20G>A	CCDS11556.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318814	0.81469	.	.	ENSG00000064195	ENST00000434704	D	0.92149	-2.98	4.65	4.65	0.58169	.	0.064462	0.56097	D	0.000028	D	0.88819	0.6540	L	0.42245	1.32	0.80722	D	1	D	0.61080	0.989	P	0.46320	0.512	D	0.88470	0.3061	10	0.59425	D	0.04	-24.048	8.6145	0.33822	0.0:0.8977:0.0:0.1023	.	7	O60479	DLX3_HUMAN	H	7	ENSP00000389870:R7H	ENSP00000389870:R7H	R	-	2	0	DLX3	45427342	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.671000	0.25172	2.426000	0.82243	0.491000	0.48974	CGC		0.647	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366307.1			4	205	0	0	0	1	0	4	205				
IMPDH1	3614	broad.mit.edu	37	7	128035019	128035019	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:128035019G>A	ENST00000480861.1	-	11	1281	c.1204C>T	c.(1204-1206)Cgg>Tgg	p.R402W	IMPDH1_ENST00000348127.6_Missense_Mutation_p.R456W|IMPDH1_ENST00000338791.6_Missense_Mutation_p.R492W|IMPDH1_ENST00000470772.1_Missense_Mutation_p.R406W|IMPDH1_ENST00000354269.5_Missense_Mutation_p.R482W|IMPDH1_ENST00000496200.1_Missense_Mutation_p.R382W|IMPDH1_ENST00000343214.4_Missense_Mutation_p.R382W|IMPDH1_ENST00000378717.4_Missense_Mutation_p.R423W|IMPDH1_ENST00000419067.2_Missense_Mutation_p.R459W	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						TTCTTGAGCCGCACCCCGTCT	0.617																																						ENST00000338791.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						c.(1474-1476)Cgg>Tgg		IMP (inosine 5'-monophosphate) dehydrogenase 1	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)						58.0	68.0	64.0					7																	128035019		2203	4300	6503	SO:0001583	missense	3614				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding	g.chr7:128035019G>A		CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"""retinitis pigmentosa 10 (autosomal dominant)"", ""IMP (inosine monophosphate) dehydrogenase 1"""	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.1204C>T	7.37:g.128035019G>A	ENSP00000420185:p.Arg402Trp					IMPDH1_ENST00000378717.4_Missense_Mutation_p.R423W|IMPDH1_ENST00000419067.2_Missense_Mutation_p.R459W|IMPDH1_ENST00000354269.5_Missense_Mutation_p.R482W|IMPDH1_ENST00000348127.6_Missense_Mutation_p.R456W|IMPDH1_ENST00000496200.1_Missense_Mutation_p.R382W|IMPDH1_ENST00000343214.4_Missense_Mutation_p.R382W|IMPDH1_ENST00000480861.1_Missense_Mutation_p.R402W|IMPDH1_ENST00000470772.1_Missense_Mutation_p.R406W	p.R492W	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN			14	1824	-			407						Missense_Mutation	SNP	ENST00000480861.1	37	c.1474C>T	CCDS55161.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577928	0.45902	.	.	ENSG00000106348	ENST00000419067;ENST00000338791;ENST00000496200;ENST00000354269;ENST00000378717;ENST00000348127;ENST00000343214;ENST00000470772;ENST00000480861	T;T;T;T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	4.56	1.1	0.20463	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.90116	0.6912	M	0.91768	3.24	0.58432	D	0.999995	D;D;D;D;D;D;D;D	0.89917	1.0;0.998;0.998;1.0;1.0;1.0;1.0;0.998	D;D;D;D;D;D;D;D	0.81914	0.972;0.981;0.97;0.989;0.995;0.991;0.993;0.968	D	0.89758	0.3945	10	0.87932	D	0	-12.0627	11.6853	0.51483	0.0:0.0:0.3774:0.6226	.	459;402;407;423;482;456;492;382	C9JV30;B4DE09;P20839;E7EQS0;Q5H9Q6;P20839-3;A4D0Z6;P20839-2	.;.;IMDH1_HUMAN;.;.;.;.;.	W	459;492;382;482;423;456;382;406;402	ENSP00000399400:R459W;ENSP00000345096:R492W;ENSP00000420803:R382W;ENSP00000346219:R482W;ENSP00000367989:R423W;ENSP00000265385:R456W;ENSP00000342438:R382W;ENSP00000417296:R406W;ENSP00000420185:R402W	ENSP00000345096:R492W	R	-	1	2	IMPDH1	127822255	0.861000	0.29849	0.997000	0.53966	0.983000	0.72400	1.127000	0.31357	0.002000	0.14630	-0.397000	0.06425	CGG		0.617	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349462.1	NM_000883		6	554	0	0	0	1	0	6	554				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	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.S168S(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	0.537			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.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(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.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>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.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR	p.S168S	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	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		15	368	0	0	0	1	0	15	368				
HIST1H1E	3008	broad.mit.edu	37	6	26156692	26156692	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:26156692G>A	ENST00000304218.3	+	1	134	c.74G>A	c.(73-75)cGc>cAc	p.R25H	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	25					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.R25P(1)		NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AAGAAGGCCCGCAAGTCTGCA	0.647																																						ENST00000304218.3																			1	Substitution - Missense(1)	p.R25P(1)	lung(1)	NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						c.(73-75)cGc>cAc		histone cluster 1, H1e							32.0	41.0	38.0					6																	26156692		2185	4281	6466	SO:0001583	missense	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26156692G>A	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.74G>A	6.37:g.26156692G>A	ENSP00000307705:p.Arg25His						p.R25H	NM_005321.2	NP_005312.1	P10412	H14_HUMAN			1	134	+			25					Q4VB25	Missense_Mutation	SNP	ENST00000304218.3	37	c.74G>A	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	11.37	1.618776	0.28801	.	.	ENSG00000168298	ENST00000304218	T	0.09163	3.01	5.49	4.39	0.52855	.	0.297668	0.33980	N	0.004377	T	0.01870	0.0059	N	0.08118	0	0.32768	N	0.504197	B	0.09022	0.002	B	0.01281	0.0	T	0.36407	-0.9749	10	0.66056	D	0.02	-2.4329	4.5977	0.12338	0.2792:0.0:0.7208:0.0	.	25	P10412	H14_HUMAN	H	25	ENSP00000307705:R25H	ENSP00000307705:R25H	R	+	2	0	HIST1H1E	26264671	0.008000	0.16893	1.000000	0.80357	0.089000	0.18198	1.543000	0.36147	2.727000	0.93392	0.655000	0.94253	CGC		0.647	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		7	540	0	0	0	1	0	7	540				
FHOD3	80206	broad.mit.edu	37	18	34310682	34310682	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr18:34310682G>A	ENST00000359247.4	+	16	2915	c.2915G>A	c.(2914-2916)gGt>gAt	p.G972D	FHOD3_ENST00000590592.1_Missense_Mutation_p.G1164D|FHOD3_ENST00000257209.4_Missense_Mutation_p.G989D|FHOD3_ENST00000445677.1_Missense_Mutation_p.G951D|FHOD3_ENST00000591635.1_Missense_Mutation_p.G185D|FHOD3_ENST00000592128.1_5'UTR	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	972	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ATCAATATTGGTCTGACGGTG	0.428																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(2965-2967)gGt>gAt		formin homology 2 domain containing 3							136.0	122.0	127.0					18																	34310682		2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34310682G>A	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.2915G>A	18.37:g.34310682G>A	ENSP00000352186:p.Gly972Asp					FHOD3_ENST00000591635.1_Missense_Mutation_p.G185D|FHOD3_ENST00000445677.1_Missense_Mutation_p.G951D|FHOD3_ENST00000592128.1_5'UTR|FHOD3_ENST00000590592.1_Missense_Mutation_p.G1164D|FHOD3_ENST00000359247.4_Missense_Mutation_p.G972D	p.G989D	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			17	3088	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	972			FH2.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.2966G>A		.	.	.	.	.	.	.	.	.	.	G	25.9	4.680469	0.88542	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.17213	2.29;2.29;2.29	5.33	5.33	0.75918	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.47469	0.1447	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.97110	1.0;1.0;0.976	T	0.52208	-0.8606	10	0.72032	D	0.01	.	17.6127	0.88059	0.0:0.0:1.0:0.0	.	951;972;989	Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;FHOD3_HUMAN;.	D	989;972;951	ENSP00000257209:G989D;ENSP00000352186:G972D;ENSP00000411430:G951D	ENSP00000257209:G989D	G	+	2	0	FHOD3	32564680	1.000000	0.71417	0.457000	0.27056	0.991000	0.79684	9.756000	0.98918	2.479000	0.83701	0.557000	0.71058	GGT		0.428	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		6	691	0	0	0	1	0	6	691				
TCF7	6932	broad.mit.edu	37	5	133478560	133478560	+	Missense_Mutation	SNP	A	A	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:133478560A>T	ENST00000321584.4	+	7	1100	c.904A>T	c.(904-906)Atc>Ttc	p.I302F	TCF7_ENST00000432532.2_Missense_Mutation_p.I187F|TCF7_ENST00000395029.1_Missense_Mutation_p.I302F|TCF7_ENST00000342854.5_Missense_Mutation_p.I302F|TCF7_ENST00000321603.6_Missense_Mutation_p.I302F|TCF7_ENST00000378564.1_Missense_Mutation_p.I302F|TCF7_ENST00000518915.1_Missense_Mutation_p.I187F|TCF7_ENST00000520958.1_Missense_Mutation_p.I187F|TCF7_ENST00000378560.4_Missense_Mutation_p.I187F|TCF7_ENST00000395023.1_Missense_Mutation_p.I187F			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	302					alpha-beta T cell differentiation (GO:0046632)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cellular response to interleukin-4 (GO:0071353)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|generation of neurons (GO:0048699)|immune response (GO:0006955)|neural tube development (GO:0021915)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor V(D)J recombination (GO:0033153)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CATCAACCAGATCCTGGGCCG	0.587																																						ENST00000395029.1																			0				kidney(2)|large_intestine(7)|lung(2)|skin(1)	12						c.(904-906)Atc>Ttc		transcription factor 7 (T-cell specific, HMG-box)							119.0	106.0	110.0					5																	133478560		2203	4300	6503	SO:0001583	missense	6932				cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding	g.chr5:133478560A>T	Z47362	CCDS4169.1, CCDS4170.1, CCDS43362.1, CCDS47263.1, CCDS47263.2	5q31	2008-02-05			ENSG00000081059	ENSG00000081059			11639	protein-coding gene	gene with protein product		189908					Standard	NM_003202		Approved	TCF-1	uc003kyt.3	P36402	OTTHUMG00000129124	ENST00000321584.4:c.904A>T	5.37:g.133478560A>T	ENSP00000326540:p.Ile302Phe					TCF7_ENST00000378564.1_Missense_Mutation_p.I302F|TCF7_ENST00000518915.1_Missense_Mutation_p.I187F|TCF7_ENST00000520958.1_Missense_Mutation_p.I187F|TCF7_ENST00000378560.4_Missense_Mutation_p.I187F|TCF7_ENST00000321584.4_Missense_Mutation_p.I302F|TCF7_ENST00000432532.2_Missense_Mutation_p.I187F|TCF7_ENST00000342854.5_Missense_Mutation_p.I302F|TCF7_ENST00000395023.1_Missense_Mutation_p.I187F|TCF7_ENST00000321603.6_Missense_Mutation_p.I302F	p.I302F			P36402	TCF7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		7	1099	+		Breast(839;0.058)	302					B3KSH3|Q86WR9|Q9UKI4	Missense_Mutation	SNP	ENST00000321584.4	37	c.904A>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	23.8|23.8|23.8	4.461467|4.461467|4.461467	0.84317|0.84317|0.84317	.|.|.	.|.|.	ENSG00000081059|ENSG00000081059|ENSG00000081059	ENST00000517855|ENST00000342854;ENST00000361590;ENST00000321603;ENST00000321584;ENST00000378564;ENST00000395029;ENST00000378560;ENST00000432532;ENST00000520958;ENST00000518915;ENST00000395023;ENST00000517799|ENST00000520699	.|D;D;D;D;D;D;D;D;D;D;D|.	.|0.98178|.	.|-4.77;-4.77;-4.77;-4.77;-4.77;-4.77;-4.77;-4.77;-4.77;-4.77;-4.77|.	5.82|5.82|5.82	5.82|5.82|5.82	0.92795|0.92795|0.92795	.|High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	D|D|D	0.83344|0.83344|0.83344	0.5234|0.5234|0.5234	M|M|M	0.88570|0.88570|0.88570	2.965|2.965|2.965	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;D;D;D;D|.	.|0.89917|.	.|0.999;0.997;1.0;0.987;1.0;0.999|.	.|D;D;D;D;D;D|.	.|0.91635|.	.|0.993;0.991;0.999;0.979;0.998;0.994|.	D|D|D	0.86089|0.86089|0.86089	0.1549|0.1549|0.1549	5|10|5	.|0.87932|.	.|D|.	.|0|.	.|.|.	16.1728|16.1728|16.1728	0.81831|0.81831|0.81831	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|116;302;302;100;302;302|.	.|B3KSI6;P36402-9;B7WNT5;B3KQ75;P36402;P36402-5|.	.|.;.;.;.;TCF7_HUMAN;.|.	V|F|S	90|302;302;302;302;302;302;187;187;187;187;187;80|26	.|ENSP00000340347:I302F;ENSP00000326654:I302F;ENSP00000326540:I302F;ENSP00000367827:I302F;ENSP00000378472:I302F;ENSP00000367822:I187F;ENSP00000397946:I187F;ENSP00000429547:I187F;ENSP00000430179:I187F;ENSP00000378469:I187F;ENSP00000427968:I80F|.	.|ENSP00000326540:I302F|.	D|I|R	+|+|+	2|1|3	0|0|2	TCF7|TCF7|TCF7	133506459|133506459|133506459	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.832000|0.832000|0.832000	0.47134|0.47134|0.47134	9.339000|9.339000|9.339000	0.96797|0.96797|0.96797	2.228000|2.228000|2.228000	0.72767|0.72767|0.72767	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAT|ATC|AGA		0.587	TCF7-201	KNOWN	basic	protein_coding	protein_coding		NM_201634		23	208	0	0	0	1	0	23	208				
SEMG1	6406	broad.mit.edu	37	20	43836069	43836069	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:43836069A>G	ENST00000372781.3	+	2	188	c.131A>G	c.(130-132)aAg>aGg	p.K44R	SEMG1_ENST00000244069.6_Missense_Mutation_p.K44R	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	44					insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CACGGACAAAAGGGCCAGCAC	0.388																																						ENST00000372781.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32						c.(130-132)aAg>aGg		semenogelin I							114.0	118.0	117.0					20																	43836069		2203	4300	6503	SO:0001583	missense	6406							g.chr20:43836069A>G		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.131A>G	20.37:g.43836069A>G	ENSP00000361867:p.Lys44Arg					SEMG1_ENST00000244069.6_Missense_Mutation_p.K44R	p.K44R	NM_003007.3	NP_002998.1					2	188	+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37	c.131A>G	CCDS13345.1	.	.	.	.	.	.	.	.	.	.	A	7.527	0.657848	0.14645	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.06608	3.28;3.28	2.05	0.853	0.19001	.	.	.	.	.	T	0.05686	0.0149	L	0.45581	1.43	0.09310	N	1	B;B;B	0.27910	0.058;0.193;0.071	B;B;B	0.22152	0.022;0.036;0.038	T	0.36553	-0.9743	9	0.45353	T	0.12	.	4.1025	0.10020	0.8112:0.0:0.1888:0.0	.	44;44;44	P04279-2;P04279;E7EPD3	.;SEMG1_HUMAN;.	R	44	ENSP00000244069:K44R;ENSP00000361867:K44R	ENSP00000244069:K44R	K	+	2	0	SEMG1	43269483	0.001000	0.12720	0.000000	0.03702	0.077000	0.17291	0.868000	0.27982	0.196000	0.20367	0.377000	0.23210	AAG		0.388	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		5	740	0	0	0	1	0	5	740				
CELF4	56853	broad.mit.edu	37	18	34855150	34855150	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr18:34855150G>A	ENST00000591282.1	-	4	504	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	RP11-797E24.3_ENST00000586610.1_RNA|CELF4_ENST00000334919.5_Missense_Mutation_p.R159C|CELF4_ENST00000412753.1_Missense_Mutation_p.R169C|CELF4_ENST00000588597.1_Missense_Mutation_p.R158C|CELF4_ENST00000361795.5_Missense_Mutation_p.R168C|CELF4_ENST00000601019.1_Missense_Mutation_p.R168C|CELF4_ENST00000603232.1_Missense_Mutation_p.R169C|CELF4_ENST00000591287.1_Missense_Mutation_p.R168C|CELF4_ENST00000420428.2_Missense_Mutation_p.R169C|RP11-797E24.3_ENST00000588766.1_RNA			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	169	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.|Sufficient for RNA-binding and MSE- dependent splicing activity.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						AAAAGGCGGCGCACGTCGTCC	0.622																																						ENST00000420428.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						c.(505-507)Cgc>Tgc		CUGBP, Elav-like family member 4							69.0	71.0	71.0					18																	34855150		2203	4300	6503	SO:0001583	missense	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:34855150G>A	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.505C>T	18.37:g.34855150G>A	ENSP00000464794:p.Arg169Cys					CELF4_ENST00000412753.1_Missense_Mutation_p.R169C|CELF4_ENST00000603232.1_Missense_Mutation_p.R169C|CELF4_ENST00000588597.1_Missense_Mutation_p.R158C|CELF4_ENST00000591282.1_Missense_Mutation_p.R169C|CELF4_ENST00000591287.1_Missense_Mutation_p.R168C|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000334919.5_Missense_Mutation_p.R159C|CELF4_ENST00000361795.5_Missense_Mutation_p.R168C|RP11-797E24.3_ENST00000586610.1_RNA|CELF4_ENST00000601019.1_Missense_Mutation_p.R168C	p.R169C	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN			4	900	-			169			RRM 2.|Sufficient for RNA-binding and MSE- dependent splicing activity.		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	ENST00000591282.1	37	c.505C>T	CCDS32818.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246354	0.80024	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919;ENST00000361683	T;T;T	0.19669	2.3;2.13;2.13	4.38	2.49	0.30216	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.115249	0.64402	D	0.000010	T	0.49270	0.1547	M	0.89414	3.03	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.957;0.999;0.995;0.936;0.986	T	0.54721	-0.8251	10	0.87932	D	0	-7.9084	10.8412	0.46718	0.0:0.1421:0.7101:0.1477	.	168;158;159;168;169	Q9BZC1-3;B4DHA8;Q9BZC1-5;Q9BZC1-2;Q9BZC1	.;.;.;.;CELF4_HUMAN	C	169;169;168;159;52	ENSP00000355089:R169C;ENSP00000406823:R169C;ENSP00000335631:R159C	ENSP00000335631:R159C	R	-	1	0	CELF4	33109148	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	6.432000	0.73400	0.533000	0.28675	-0.176000	0.13171	CGC		0.622	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		6	918	0	0	0	1	0	6	918				
SLC9B1	150159	broad.mit.edu	37	4	103826768	103826768	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:103826768C>T	ENST00000296422.7	-	11	1376	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q	SLC9B1_ENST00000394789.3_Missense_Mutation_p.R412Q|SLC9B1_ENST00000512651.2_Intron	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	412					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										GGTTAAAATTCGAACACATAA	0.338																																						ENST00000296422.7																			0											c.(1234-1236)cGa>cAa		solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1							44.0	48.0	47.0					4																	103826768		2200	4294	6494	SO:0001583	missense	150159					integral to membrane	solute:hydrogen antiporter activity	g.chr4:103826768C>T	AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"""Solute carriers"""	24244	protein-coding gene	gene with protein product		611527	"""Na+/H+ exchanger domain containing 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"""	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.1235G>A	4.37:g.103826768C>T	ENSP00000296422:p.Arg412Gln					SLC9B1_ENST00000394789.3_Missense_Mutation_p.R412Q|SLC9B1_ENST00000512651.2_Intron	p.R412Q	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN			11	1376	-			412					A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Missense_Mutation	SNP	ENST00000296422.7	37	c.1235G>A	CCDS34041.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654826	0.67472	.	.	ENSG00000164037	ENST00000394789;ENST00000296422	T;T	0.24538	1.85;1.85	3.47	3.47	0.39725	.	0.000000	0.64402	D	0.000002	T	0.54711	0.1875	M	0.86740	2.835	0.43824	D	0.996397	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.969;0.988;0.995	T	0.65865	-0.6064	10	0.87932	D	0	-27.7024	14.2383	0.65941	0.0:1.0:0.0:0.0	.	180;412;412	Q4ZJI4-2;Q4ZJI4;Q4ZJI4-3	.;SL9B1_HUMAN;.	Q	412	ENSP00000378269:R412Q;ENSP00000296422:R412Q	ENSP00000296422:R412Q	R	-	2	0	SLC9B1	104046217	1.000000	0.71417	0.655000	0.29622	0.664000	0.39144	5.152000	0.64882	1.919000	0.55581	0.484000	0.47621	CGA		0.338	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173		5	437	0	0	0	1	0	5	437				
PTGS2	5743	broad.mit.edu	37	1	186645692	186645692	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:186645692G>A	ENST00000367468.5	-	7	1013	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	293					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	TTGTGTTCCCGCAGCCAGATT	0.507																																						ENST00000367468.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(877-879)Cgg>Tgg		prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)						142.0	131.0	135.0					1																	186645692		2203	4300	6503	SO:0001583	missense	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186645692G>A	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.877C>T	1.37:g.186645692G>A	ENSP00000356438:p.Arg293Trp					PTGS2_ENST00000490885.2_5'UTR	p.R293W	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN			7	1013	-			293					A8K802|Q16876	Missense_Mutation	SNP	ENST00000367468.5	37	c.877C>T	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661102	0.67700	.	.	ENSG00000073756	ENST00000367468	D	0.81499	-1.5	5.51	4.6	0.57074	.	0.000000	0.85682	D	0.000000	D	0.92825	0.7718	H	0.96720	3.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94695	0.7877	10	0.87932	D	0	-21.2931	13.7625	0.62975	0.0:0.0:0.6055:0.3945	.	293;293	Q8IZA9;P35354	.;PGH2_HUMAN	W	293	ENSP00000356438:R293W	ENSP00000356438:R293W	R	-	1	2	PTGS2	184912315	0.980000	0.34600	0.944000	0.38274	0.794000	0.44872	1.795000	0.38784	1.321000	0.45227	-0.158000	0.13435	CGG		0.507	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		8	993	0	0	0	1	0	8	993				
TXNDC2	84203	broad.mit.edu	37	18	9886894	9886894	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	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_ENST00000536353.2_Missense_Mutation_p.K73E|TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000426718.3_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	1290	0	0	0	1	0	7	1290				
RD3	343035	broad.mit.edu	37	1	211652533	211652533	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:211652533G>A	ENST00000367002.4	-	3	1596	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	RD3_ENST00000484910.1_5'UTR	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	145					response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		CCGCGGGGCCGCAGGCTCCAC	0.682																																						ENST00000367002.4																			0				central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10						c.(433-435)Cgg>Tgg		retinal degeneration 3							23.0	22.0	23.0					1																	211652533		2200	4296	6496	SO:0001583	missense	343035				response to stimulus|visual perception			g.chr1:211652533G>A	AY191519	CCDS1498.1	1q32.3	2008-02-05	2006-11-13	2006-11-13	ENSG00000198570	ENSG00000198570			19689	protein-coding gene	gene with protein product		180040	"""chromosome 1 open reading frame 36"""	C1orf36		12914764	Standard	NM_183059		Approved	LCA12	uc001hin.2	Q7Z3Z2	OTTHUMG00000037002	ENST00000367002.4:c.433C>T	1.37:g.211652533G>A	ENSP00000355969:p.Arg145Trp					RD3_ENST00000484910.1_5'UTR	p.R145W	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)	3	1596	-			145					A8K595	Missense_Mutation	SNP	ENST00000367002.4	37	c.433C>T	CCDS1498.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997699	0.54147	.	.	ENSG00000198570	ENST00000367002	T	0.13089	2.62	4.33	0.889	0.19212	.	0.310531	0.32608	N	0.005867	T	0.15739	0.0379	M	0.68952	2.095	0.33741	D	0.619458	B	0.25007	0.116	B	0.19391	0.025	T	0.21348	-1.0248	10	0.87932	D	0	-17.1619	12.376	0.55281	0.0:0.0:0.301:0.699	.	145	Q7Z3Z2	RD3_HUMAN	W	145	ENSP00000355969:R145W	ENSP00000355969:R145W	R	-	1	2	RD3	209719156	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	2.776000	0.47709	0.337000	0.23665	0.555000	0.69702	CGG		0.682	RD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089837.1	NM_183059		4	206	0	0	0	1	0	4	206				
AKNA	80709	broad.mit.edu	37	9	117099537	117099537	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:117099537G>A	ENST00000307564.4	-	22	4278	c.4117C>T	c.(4117-4119)Ccg>Tcg	p.P1373S	AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374088.3_Missense_Mutation_p.P1373S|AKNA_ENST00000374075.5_Missense_Mutation_p.P1292S|AKNA_ENST00000223791.3_Missense_Mutation_p.P833S|AKNA_ENST00000374079.4_Missense_Mutation_p.P318S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1373					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	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)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GCTGTGGGCGGCCACTTGGCA	0.652																																						ENST00000307564.4																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						c.(4117-4119)Ccg>Tcg		AT-hook transcription factor							43.0	46.0	45.0					9																	117099537		2203	4299	6502	SO:0001583	missense	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117099537G>A	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.4117C>T	9.37:g.117099537G>A	ENSP00000303769:p.Pro1373Ser					AKNA_ENST00000223791.3_Missense_Mutation_p.P833S|AKNA_ENST00000374088.3_Missense_Mutation_p.P1373S|AKNA_ENST00000374079.4_Missense_Mutation_p.P318S|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374075.5_Missense_Mutation_p.P1292S	p.P1373S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN			22	4278	-			1373					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	c.4117C>T	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701037	0.30142	.	.	ENSG00000106948	ENST00000307564;ENST00000374079;ENST00000374088;ENST00000223791;ENST00000374075	T;T;T;T;T	0.48522	2.14;0.81;2.14;1.88;2.12	3.92	1.73	0.24493	.	.	.	.	.	T	0.32346	0.0826	L	0.27053	0.805	0.09310	N	1	B;B	0.16396	0.01;0.017	B;B	0.15052	0.005;0.012	T	0.21724	-1.0237	9	0.42905	T	0.14	3.4487	7.9837	0.30198	0.0:0.0:0.4496:0.5504	.	1373;1292	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	S	1373;318;1373;833;1292	ENSP00000303769:P1373S;ENSP00000363192:P318S;ENSP00000363201:P1373S;ENSP00000223791:P833S;ENSP00000363188:P1292S	ENSP00000223791:P833S	P	-	1	0	AKNA	116139358	0.292000	0.24362	0.038000	0.18304	0.023000	0.10783	0.861000	0.27885	0.616000	0.30141	0.462000	0.41574	CCG		0.652	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		5	382	0	0	0	1	0	5	382				
LOC645752	645752	broad.mit.edu	37	15	78212618	78212618	+	lincRNA	SNP	A	A	G	rs201050938	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:78212618A>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TGTAACCGCCACTGGAGGACC	0.562																																						ENST00000565869.1																			0																																																			0							g.chr15:78212618A>G																													15.37:g.78212618A>G						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	155	0	0	0	1	0	6	155				
PRG4	10216	broad.mit.edu	37	1	186276451	186276451	+	Missense_Mutation	SNP	A	A	C	rs549460989	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:186276451A>C	ENST00000445192.2	+	7	1645	c.1600A>C	c.(1600-1602)Acc>Ccc	p.T534P	PRG4_ENST00000367485.4_Missense_Mutation_p.T441P|PRG4_ENST00000367486.3_Missense_Mutation_p.T491P|PRG4_ENST00000367483.4_Missense_Mutation_p.T493P|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	534	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)			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						ACCCACCACTACCAAGGAGCC	0.632													-|||	19	0.00379393	0.0023	0.0043	5008	,	,		6988	0.004		0.005	False		,,,				2504	0.0041					ENST00000445192.2																			0				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.(1600-1602)Acc>Ccc		proteoglycan 4							135.0	121.0	126.0					1																	186276451		2203	4298	6501	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276451A>C	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.1600A>C	1.37:g.186276451A>C	ENSP00000399679:p.Thr534Pro					PRG4_ENST00000367485.4_Missense_Mutation_p.T441P|PRG4_ENST00000367486.3_Missense_Mutation_p.T491P|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.T493P	p.T534P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1645	+			534			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.1600A>C	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	a	3.488	-0.104447	0.06967	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05382	3.47;3.58;3.45;3.54	2.94	-5.88	0.02290	.	.	.	.	.	T	0.02380	0.0073	N	0.02916	-0.46	0.09310	N	0.999996	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	0.46048	-0.9219	8	.	.	.	.	11.4218	0.49987	0.2019:0.69:0.0:0.1082	.	400;441;534;493	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	P	491;400;493;441;534	ENSP00000356456:T491P;ENSP00000356453:T493P;ENSP00000356455:T441P;ENSP00000399679:T534P	.	T	+	1	0	PRG4	184543074	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-3.298000	0.00193	0.000000	0.15137	ACC		0.632	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		17	1289	0	0	0	1	0	17	1289				
ANK3	288	broad.mit.edu	37	10	61834899	61834899	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:61834899G>A	ENST00000280772.2	-	37	5931	c.5740C>T	c.(5740-5742)Cgg>Tgg	p.R1914W	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1914					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCGGTCATCCGCATTAGGTCC	0.438																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(5740-5742)Cgg>Tgg		ankyrin 3, node of Ranvier (ankyrin G)							132.0	117.0	122.0					10																	61834899		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61834899G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.5740C>T	10.37:g.61834899G>A	ENSP00000280772:p.Arg1914Trp					ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	p.R1914W	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	5931	-			1914					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.5740C>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012675	0.75161	.	.	ENSG00000151150	ENST00000280772	T	0.69806	-0.43	5.59	2.34	0.29019	.	0.000000	0.38381	N	0.001719	T	0.77685	0.4167	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80790	-0.1225	10	0.87932	D	0	.	13.3221	0.60438	0.0:0.0:0.4595:0.5405	.	1914	Q12955	ANK3_HUMAN	W	1914	ENSP00000280772:R1914W	ENSP00000280772:R1914W	R	-	1	2	ANK3	61504905	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.526000	0.45607	1.309000	0.44985	0.655000	0.94253	CGG		0.438	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		28	364	0	0	0	1	0	28	364				
OR5L1	219437	broad.mit.edu	37	11	55579038	55579038	+	Silent	SNP	T	T	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:55579038T>A	ENST00000333973.2	+	1	185	c.96T>A	c.(94-96)ctT>ctA	p.L32L		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	32						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(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGCTGTTCCTTCTCATCTATG	0.512																																						ENST00000333973.2																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(94-96)ctT>ctA		olfactory receptor, family 5, subfamily L, member 1							263.0	237.0	246.0					11																	55579038		2200	4296	6496	SO:0001819	synonymous_variant	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579038T>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.96T>A	11.37:g.55579038T>A							p.L32L	NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN			1	185	+		all_epithelial(135;0.208)	32					B2RNK6|Q6IFD0	Silent	SNP	ENST00000333973.2	37	c.96T>A	CCDS31509.1																																																																																				0.512	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		90	869	0	0	0	1	0	90	869				
SEC24C	9632	broad.mit.edu	37	10	75527672	75527672	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:75527672C>T	ENST00000339365.2	+	16	2250	c.2088C>T	c.(2086-2088)ctC>ctT	p.L696L	SEC24C_ENST00000411652.2_Silent_p.L577L|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000345254.4_Silent_p.L696L|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000496827.1_3'UTR	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	696					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GTGTAGATCTCTTTCTCTTCC	0.522																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(2086-2088)ctC>ctT		SEC24 family member C							165.0	149.0	155.0					10																	75527672		2203	4300	6503	SO:0001819	synonymous_variant	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75527672C>T	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2088C>T	10.37:g.75527672C>T						SEC24C_ENST00000411652.2_Silent_p.L577L|SEC24C_ENST00000345254.4_Silent_p.L696L|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000496827.1_3'UTR	p.L696L	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			16	2250	+	Prostate(51;0.0112)		696					B4DZT4|Q8WV25	Silent	SNP	ENST00000339365.2	37	c.2088C>T	CCDS7332.1																																																																																				0.522	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			11	765	0	0	0	1	0	11	765				
COG2	22796	broad.mit.edu	37	1	230805103	230805103	+	Splice_Site	SNP	G	G	A	rs147719039		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:230805103G>A	ENST00000366669.4	+	7	711	c.596G>A	c.(595-597)cGt>cAt	p.R199H	COG2_ENST00000534989.1_Splice_Site_p.R140H|COG2_ENST00000366668.3_Splice_Site_p.R199H|COG2_ENST00000535166.1_Splice_Site_p.R83H	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	199					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)	p.R199H(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TTCTTGCAGCGTATAGCTGGC	0.418																																						ENST00000534989.1																			1	Substitution - Missense(1)	p.R199H(1)	large_intestine(1)	NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27						c.e7-1		component of oligomeric golgi complex 2		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	109.0	107.0	107.0		596,596	5.5	1.0	1	dbSNP_134	107	0,8600		0,0,4300	no	missense-near-splice,missense-near-splice	COG2	NM_001145036.1,NM_007357.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	199/738,199/739	230805103	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	22796				Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	g.chr1:230805103G>A	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.595-1G>A	1.37:g.230805103G>A						COG2_ENST00000366668.3_Splice_Site_p.R199_splice|COG2_ENST00000494371.1_3'UTR|COG2_ENST00000535166.1_Splice_Site_p.R83_splice|COG2_ENST00000366669.4_Splice_Site_p.R199_splice	p.R140_splice			Q14746	COG2_HUMAN			7	754	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	199					Q86U99	Splice_Site	SNP	ENST00000366669.4	37	c.417_splice	CCDS1584.1	.	.	.	.	.	.	.	.	.	.	G	33	5.222944	0.95139	2.27E-4	0.0	ENSG00000135775	ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.61874	0.2382	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.66991	-0.5783	10	0.87932	D	0	-13.1793	19.2959	0.94122	0.0:0.0:1.0:0.0	.	199;199	Q86U99;Q14746	.;COG2_HUMAN	H	199;83;199;140	ENSP00000355629:R199H;ENSP00000445724:R83H;ENSP00000355628:R199H;ENSP00000440349:R140H	ENSP00000355628:R199H	R	+	2	0	COG2	228871726	1.000000	0.71417	0.987000	0.45799	0.862000	0.49288	9.579000	0.98204	2.564000	0.86499	0.655000	0.94253	CGT		0.418	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357	Missense_Mutation	6	864	0	0	0	1	0	6	864				
FAM135B	51059	broad.mit.edu	37	8	139145029	139145029	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:139145029G>T	ENST00000395297.1	-	20	4198	c.4028C>A	c.(4027-4029)gCa>gAa	p.A1343E		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1343										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GATCATTTCTGCATAAACTGG	0.493										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(4027-4029)gCa>gAa		family with sequence similarity 135, member B							148.0	153.0	152.0					8																	139145029		1951	4145	6096	SO:0001583	missense	51059							g.chr8:139145029G>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.4028C>A	8.37:g.139145029G>T	ENSP00000378710:p.Ala1343Glu	HNSCC(54;0.14)					p.A1343E	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		20	4198	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1343					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.4028C>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700513	0.88924	.	.	ENSG00000147724	ENST00000395297	T	0.14391	2.51	5.74	4.68	0.58851	.	0.120568	0.56097	D	0.000029	T	0.30262	0.0759	L	0.50333	1.59	0.38581	D	0.950185	D	0.89917	1.0	D	0.69307	0.963	T	0.02358	-1.1171	10	0.66056	D	0.02	-19.3604	14.7346	0.69406	0.0813:0.0:0.9187:0.0	.	1343	Q49AJ0	F135B_HUMAN	E	1343	ENSP00000378710:A1343E	ENSP00000378710:A1343E	A	-	2	0	FAM135B	139214211	1.000000	0.71417	0.833000	0.33012	0.994000	0.84299	6.617000	0.74210	2.723000	0.93209	0.655000	0.94253	GCA		0.493	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		65	917	1	0	2.93687e-30	1	3.19771e-30	65	917				
UBAP2	55833	broad.mit.edu	37	9	33948659	33948659	+	De_novo_Start_OutOfFrame	SNP	T	T	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:33948659T>C	ENST00000379225.1	-	0	305				UBAP2_ENST00000360802.1_Intron|UBAP2_ENST00000379239.4_Intron|UBAP2_ENST00000418786.2_Intron|UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000379238.1_Intron|UBAP2_ENST00000449054.1_Intron					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ACATATCAAGTATTTTCACAA	0.294																																						ENST00000379225.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32								ubiquitin associated protein 2																																						55833							g.chr9:33948659T>C	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379225.1:c.-119A>G	9.37:g.33948659T>C						UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000379238.1_Intron|UBAP2_ENST00000360802.1_Intron|UBAP2_ENST00000449054.1_Intron|UBAP2_ENST00000379239.4_Intron|UBAP2_ENST00000418786.2_Intron				Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	0	305	-									Translation_Start_Site	SNP	ENST00000379225.1	37																																																																																						0.294	UBAP2-008	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000207580.1	NM_018449		94	109	0	0	0	1	0	94	109				
COL1A2	1278	broad.mit.edu	37	7	94042405	94042405	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:94042405G>A	ENST00000297268.6	+	26	1985	c.1514G>A	c.(1513-1515)gGc>gAc	p.G505D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	505					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTGATCCTGGCAAAAACGGT	0.398										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(1513-1515)gGc>gAc		collagen, type I, alpha 2	Collagenase(DB00048)						278.0	248.0	258.0					7																	94042405		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94042405G>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1514G>A	7.37:g.94042405G>A	ENSP00000297268:p.Gly505Asp	HNSCC(75;0.22)					p.G505D	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		26	1985	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		505					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.1514G>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743563	0.69418	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99619	-6.28	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.99832	0.9924	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96962	0.9702	10	0.87932	D	0	.	20.2246	0.98337	0.0:0.0:1.0:0.0	.	505	P08123	CO1A2_HUMAN	D	505;506	ENSP00000297268:G505D	ENSP00000297268:G505D	G	+	2	0	COL1A2	93880341	1.000000	0.71417	1.000000	0.80357	0.475000	0.33008	9.817000	0.99352	2.861000	0.98227	0.655000	0.94253	GGC		0.398	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		6	891	0	0	0	1	0	6	891				
ENDOV	284131	broad.mit.edu	37	17	78409975	78409975	+	3'UTR	SNP	A	A	G	rs12939348	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:78409975A>G	ENST00000518137.1	+	0	909				ENDOV_ENST00000517795.1_3'UTR|ENDOV_ENST00000518907.1_Missense_Mutation_p.I59V|ENDOV_ENST00000520367.1_3'UTR|ENDOV_ENST00000520284.1_Missense_Mutation_p.I59V|ENDOV_ENST00000518901.1_3'UTR	NM_173627.3	NP_775898.2	Q8N8Q3	ENDOV_HUMAN	endonuclease V						DNA repair (GO:0006281)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|endoribonuclease activity, producing 5'-phosphomonoesters (GO:0016891)|magnesium ion binding (GO:0000287)|single-stranded RNA binding (GO:0003727)|structure-specific DNA binding (GO:0043566)			endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						tcctcgtctcattcctgatcG	0.532								Direct reversal of damage																														ENST00000520284.1																			0				endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						c.(175-177)Att>Gtt	Direct reversal of damage	endonuclease V							107.0	88.0	94.0					17																	78409975		1568	3582	5150	SO:0001624	3_prime_UTR_variant	284131				DNA repair		endodeoxyribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding	g.chr17:78409975A>G		CCDS54172.1, CCDS54173.1, CCDS54174.1	17q25.3	2011-05-05			ENSG00000173818	ENSG00000173818			26640	protein-coding gene	gene with protein product						12853604	Standard	NM_001164638		Approved	FLJ35220	uc021ueo.1	Q8N8Q3	OTTHUMG00000164638	ENST00000518137.1:c.*32A>G	17.37:g.78409975A>G						ENDOV_ENST00000518907.1_Missense_Mutation_p.I59V|ENDOV_ENST00000517795.1_3'UTR|ENDOV_ENST00000520367.1_3'UTR|ENDOV_ENST00000518137.1_3'UTR|ENDOV_ENST00000518901.1_3'UTR	p.I59V			Q8N8Q3	ENDOV_HUMAN			6	593	+			0					I3L3S4|Q6P2G2|Q86X99|Q8NAK0	Missense_Mutation	SNP	ENST00000518137.1	37	c.175A>G	CCDS54172.1																																																																																				0.532	ENDOV-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379487.1	NM_173627		5	203	0	0	0	1	0	5	203				
OR6F1	343169	broad.mit.edu	37	1	247875338	247875338	+	Silent	SNP	C	C	T	rs376931741	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:247875338C>T	ENST00000302084.2	-	1	767	c.720G>A	c.(718-720)acG>acA	p.T240T	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GCGAGGAGCACGTGGAGAAGG	0.527													C|||	4	0.000798722	0.003	0.0	5008	,	,		22682	0.0		0.0	False		,,,				2504	0.0					ENST00000302084.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47						c.(718-720)acG>acA		olfactory receptor, family 6, subfamily F, member 1		C		5,4401	9.9+/-24.2	0,5,2198	116.0	106.0	109.0		720	-7.4	0.0	1		109	0,8600		0,0,4300	no	coding-synonymous	OR6F1	NM_001005286.1		0,5,6498	TT,TC,CC		0.0,0.1135,0.0384		240/309	247875338	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875338C>T	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.720G>A	1.37:g.247875338C>T						RP11-634B7.4_ENST00000449298.1_RNA	p.T240T	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	767	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		240					B2RNV6|Q6IF02|Q96R39	Silent	SNP	ENST00000302084.2	37	c.720G>A	CCDS31095.1																																																																																				0.527	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		85	905	0	0	0	1	0	85	905				
TCERG1L	256536	broad.mit.edu	37	10	132915167	132915167	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:132915167C>T	ENST00000368642.4	-	9	1375	c.1290G>A	c.(1288-1290)gaG>gaA	p.E430E		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	430										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TCTTTGCCTCCTCTGGCTTGG	0.582																																						ENST00000368642.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1288-1290)gaG>gaA		transcription elongation regulator 1-like							101.0	81.0	88.0					10																	132915167		2203	4297	6500	SO:0001819	synonymous_variant	256536							g.chr10:132915167C>T	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.1290G>A	10.37:g.132915167C>T							p.E430E	NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)	9	1375	-		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)	430					Q5VWI2|Q86XM8	Silent	SNP	ENST00000368642.4	37	c.1290G>A	CCDS7662.2																																																																																				0.582	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		27	68	0	0	0	1	0	27	68				
ASPM	259266	broad.mit.edu	37	1	197097650	197097650	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:197097650G>A	ENST00000367409.4	-	10	3162	c.2906C>T	c.(2905-2907)gCc>gTc	p.A969V	ASPM_ENST00000367408.1_Missense_Mutation_p.A219V|ASPM_ENST00000294732.7_Missense_Mutation_p.A969V	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	969	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CAAGTCTACGGCAAGATTTGT	0.383																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(2905-2907)gCc>gTc		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							121.0	116.0	118.0					1																	197097650		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197097650G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.2906C>T	1.37:g.197097650G>A	ENSP00000356379:p.Ala969Val					ASPM_ENST00000294732.7_Missense_Mutation_p.A969V|ASPM_ENST00000367408.1_Missense_Mutation_p.A219V	p.A969V	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			10	3162	-			969			CH 1.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.2906C>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	35	5.594647	0.96602	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.59638	0.25;0.25;0.25	5.77	5.77	0.91146	Calponin homology domain (4);	0.074702	0.56097	D	0.000036	T	0.74906	0.3778	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.73436	-0.3983	10	0.54805	T	0.06	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	969;969	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	V	969;969;219	ENSP00000356379:A969V;ENSP00000294732:A969V;ENSP00000356378:A219V	ENSP00000294732:A969V	A	-	2	0	ASPM	195364273	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.311000	0.96282	2.885000	0.99019	0.655000	0.94253	GCC		0.383	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		6	934	0	0	0	1	0	6	934				
CTC1	80169	broad.mit.edu	37	17	8135782	8135782	+	Missense_Mutation	SNP	G	G	A	rs200222583		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:8135782G>A	ENST00000315684.8	-	12	1964	c.1957C>T	c.(1957-1959)Cgg>Tgg	p.R653W		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	653					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CTCTCTGCCCGCACCAGGCAG	0.547																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(1957-1959)Cgg>Tgg		CTS telomere maintenance complex component 1		G	TRP/ARG	1,3823		0,1,1911	100.0	101.0	100.0		1957	2.9	1.0	17		100	0,8268		0,0,4134	yes	missense	CTC1	NM_025099.5	101	0,1,6045	AA,AG,GG		0.0,0.0262,0.0083	probably-damaging	653/1218	8135782	1,12091	1912	4134	6046	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8135782G>A	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1957C>T	17.37:g.8135782G>A	ENSP00000313759:p.Arg653Trp						p.R653W	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			12	1964	-			653					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.1957C>T	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	G	8.701	0.909645	0.17833	2.62E-4	0.0	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.84370	-1.84;-1.84	4.87	2.86	0.33363	.	0.447163	0.22531	N	0.058857	D	0.90490	0.7021	M	0.68317	2.08	0.33598	D	0.601972	D	0.89917	1.0	D	0.91635	0.999	D	0.92332	0.5874	10	0.72032	D	0.01	-25.5812	12.7044	0.57051	0.0:0.0:0.7046:0.2954	.	653	Q2NKJ3	CTC1_HUMAN	W	653;618	ENSP00000313759:R653W;ENSP00000396018:R618W	ENSP00000313759:R653W	R	-	1	2	CTC1	8076507	0.014000	0.17966	0.955000	0.39395	0.173000	0.22820	0.832000	0.27490	0.351000	0.24027	-0.808000	0.03180	CGG		0.547	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		7	747	0	0	0	1	0	7	747				
MAGI1	9223	broad.mit.edu	37	3	65425588	65425588	+	Silent	SNP	C	C	T	rs374381483|rs139785185		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:65425588C>T	ENST00000497477.2	-	9	1235	c.1236G>A	c.(1234-1236)caG>caA	p.Q412Q	MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Silent_p.Q412Q|MAGI1_ENST00000330909.8_Silent_p.Q412Q|MAGI1_ENST00000483466.1_Silent_p.Q412Q			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	412	Poly-Gln.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		gctgctgctgctgttgctgct	0.537											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(1234-1236)caG>caA		membrane associated guanylate kinase, WW and PDZ domain containing 1		C	,,	0,4386		0,0,2193	59.0	59.0	59.0		1236,1236,1236	-0.3	0.1	3	dbSNP_134	59	6,8526		0,6,4260	no	coding-synonymous,coding-synonymous,coding-synonymous	MAGI1	NM_001033057.1,NM_004742.2,NM_015520.1	,,	0,6,6453	TT,TC,CC		0.0703,0.0,0.0464	,,	412/1463,412/1257,412/1288	65425588	6,12912	2193	4266	6459	SO:0001819	synonymous_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65425588C>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1236G>A	3.37:g.65425588C>T			OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1084	MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Silent_p.Q412Q|MAGI1_ENST00000497477.2_Silent_p.Q412Q|MAGI1_ENST00000402939.2_Silent_p.Q412Q	p.Q412Q	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	9	1235	-		Lung NSC(201;0.0016)	412			Poly-Gln.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37	c.1236G>A		.	.	.	.	.	.	.	.	.	.	C	1.644	-0.515844	0.04200	0.0	7.03E-4	ENSG00000151276	ENST00000460329	.	.	.	2.7	-0.305	0.12784	.	.	.	.	.	T	0.50222	0.1603	.	.	.	0.47511	D	0.999444	.	.	.	.	.	.	T	0.34675	-0.9819	4	.	.	.	.	4.9509	0.14013	0.0:0.4601:0.2291:0.3109	.	.	.	.	N	293	.	.	S	-	2	0	MAGI1	65400628	0.923000	0.31300	0.067000	0.19924	0.012000	0.07955	0.342000	0.19926	-0.240000	0.09696	-0.808000	0.03180	AGC		0.537	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		6	575	0	0	0	1	0	6	575				
CPA6	57094	broad.mit.edu	37	8	68423884	68423884	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:68423884G>A	ENST00000297770.4	-	4	539	c.324C>T	c.(322-324)ctC>ctT	p.L108L	CPA6_ENST00000518549.1_Silent_p.L108L|CPA6_ENST00000297769.4_5'UTR	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	108						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.L108L(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GATCTTCTATGAGGACCCTGA	0.383																																						ENST00000297770.4																			1	Substitution - coding silent(1)	p.L108L(1)	lung(1)	NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26						c.(322-324)ctC>ctT		carboxypeptidase A6							140.0	143.0	142.0					8																	68423884		2203	4300	6503	SO:0001819	synonymous_variant	57094				proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr8:68423884G>A	AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.324C>T	8.37:g.68423884G>A						CPA6_ENST00000297769.4_5'UTR|CPA6_ENST00000518549.1_Silent_p.L108L	p.L108L	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)		4	539	-			108					Q8NEX8|Q8TDE8|Q9NRI9	Silent	SNP	ENST00000297770.4	37	c.324C>T	CCDS6200.1																																																																																				0.383	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2	NM_020361		325	461	0	0	0	1	0	325	461				
CHD9	80205	broad.mit.edu	37	16	53260337	53260337	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:53260337G>T	ENST00000398510.3	+	4	2043	c.1956G>T	c.(1954-1956)aaG>aaT	p.K652N	CHD9_ENST00000566029.1_Missense_Mutation_p.K652N|CHD9_ENST00000447540.1_Missense_Mutation_p.K652N|CHD9_ENST00000564845.1_Missense_Mutation_p.K652N			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	652	Lys-rich.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TAGAAGGGAAGCAATCTGAAG	0.299																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(1954-1956)aaG>aaT		chromodomain helicase DNA binding protein 9							82.0	81.0	81.0					16																	53260337		1794	4065	5859	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53260337G>T	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.1956G>T	16.37:g.53260337G>T	ENSP00000381522:p.Lys652Asn					CHD9_ENST00000398510.3_Missense_Mutation_p.K652N|CHD9_ENST00000564845.1_Missense_Mutation_p.K652N|CHD9_ENST00000447540.1_Missense_Mutation_p.K652N	p.K652N			Q3L8U1	CHD9_HUMAN			5	2165	+		all_cancers(37;0.0212)	652			Lys-rich.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.1956G>T		.	.	.	.	.	.	.	.	.	.	G	15.74	2.922549	0.52653	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	T;T	0.65549	-0.16;-0.16	5.39	-1.02	0.10135	.	0.093708	0.45867	D	0.000338	T	0.60090	0.2242	L	0.61218	1.895	0.36326	D	0.858544	B;P;P;P	0.44429	0.086;0.458;0.745;0.835	B;P;B;B	0.45577	0.031;0.486;0.247;0.429	T	0.63761	-0.6564	10	0.39692	T	0.17	-15.4851	12.4209	0.55520	0.4653:0.0:0.5347:0.0	.	178;652;652;652	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	N	652;652;178	ENSP00000396345:K652N;ENSP00000381522:K652N	ENSP00000219084:K178N	K	+	3	2	CHD9	51817838	0.679000	0.27596	0.982000	0.44146	0.992000	0.81027	-0.077000	0.11394	-0.501000	0.06605	-0.302000	0.09304	AAG		0.299	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		4	217	1	0	1	1	1	4	217				
L3MBTL2	83746	broad.mit.edu	37	22	41621925	41621925	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr22:41621925T>C	ENST00000216237.5	+	12	1642	c.1484T>C	c.(1483-1485)aTt>aCt	p.I495T		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	495					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAGAATGACATTGAGCTCACA	0.602																																						ENST00000216237.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1483-1485)aTt>aCt		l(3)mbt-like 2 (Drosophila)							91.0	67.0	75.0					22																	41621925		2203	4300	6503	SO:0001583	missense	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41621925T>C	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.1484T>C	22.37:g.41621925T>C	ENSP00000216237:p.Ile495Thr						p.I495T	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN			12	1642	+			495					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	c.1484T>C	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.501313	0.85176	.	.	ENSG00000100395	ENST00000216237	T	0.43688	0.94	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.66479	0.2793	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.997;0.998	T	0.69143	-0.5223	10	0.40728	T	0.16	.	14.782	0.69774	0.0:0.0:0.0:1.0	.	495;495	Q969R5-3;Q969R5	.;LMBL2_HUMAN	T	495	ENSP00000216237:I495T	ENSP00000216237:I495T	I	+	2	0	L3MBTL2	39951871	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.840000	0.86819	1.897000	0.54924	0.459000	0.35465	ATT		0.602	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		100	157	0	0	0	1	0	100	157				
SPTBN1	6711	broad.mit.edu	37	2	54855304	54855304	+	Missense_Mutation	SNP	T	T	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:54855304T>G	ENST00000356805.4	+	13	1996	c.1715T>G	c.(1714-1716)cTg>cGg	p.L572R	SPTBN1_ENST00000333896.5_Missense_Mutation_p.L559R	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	572					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)			AAGCACACCCTGGTTGAAGCA	0.517																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(1675-1677)cTg>cGg		spectrin, beta, non-erythrocytic 1							166.0	138.0	148.0					2																	54855304		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54855304T>G		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.1715T>G	2.37:g.54855304T>G	ENSP00000349259:p.Leu572Arg					SPTBN1_ENST00000356805.4_Missense_Mutation_p.L572R	p.L559R	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		12	2061	+			572					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.1676T>G	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.001376	0.93227	.	.	ENSG00000115306	ENST00000356805;ENST00000389980;ENST00000333896	T;T;T	0.48201	0.82;0.82;0.82	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000001	T	0.71039	0.3293	M	0.80422	2.495	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	T	0.75611	-0.3258	10	0.87932	D	0	.	16.0165	0.80443	0.0:0.0:0.0:1.0	.	559;572	Q01082-3;Q01082	.;SPTB2_HUMAN	R	572;572;559	ENSP00000349259:L572R;ENSP00000374630:L572R;ENSP00000334156:L559R	ENSP00000334156:L559R	L	+	2	0	SPTBN1	54708808	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.984000	0.88150	2.190000	0.69967	0.519000	0.50382	CTG		0.517	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			90	153	0	0	0	1	0	90	153				
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433																																						ENST00000341068.3																			5	Substitution - Missense(5)	p.T537A(5)	lung(3)|kidney(1)|endometrium(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(1609-1611)Act>Gct		anaphase promoting complex subunit 1							109.0	106.0	107.0					2																	112608394		2203	4300	6503	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112608394T>C	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1609A>G	2.37:g.112608394T>C	ENSP00000339109:p.Thr537Ala						p.T537A	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			14	2381	-			537					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.1609A>G	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.716|4.716	0.133071|0.133071	0.09032|0.09032	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.57|4.57	3.37|3.37	0.38596|0.38596	.|.	0.273018|.	0.23039|.	U|.	0.052629|.	T|T	0.55305|0.55305	0.1912|0.1912	L|L	0.45352|0.45352	1.415|1.415	0.37887|0.37887	D|D	0.930579|0.930579	B|.	0.14438|.	0.01|.	B|.	0.18263|.	0.021|.	T|T	0.53535|0.53535	-0.8425|-0.8425	9|5	0.08837|.	T|.	0.75|.	-8.0757|-8.0757	10.3103|10.3103	0.43704|0.43704	0.1479:0.0:0.0:0.8521|0.1479:0.0:0.0:0.8521	.|.	537|.	Q9H1A4|.	APC1_HUMAN|.	A|C	537|71	.|.	ENSP00000339109:T537A|.	T|Y	-|-	1|2	0|0	ANAPC1|ANAPC1	112324865|112324865	1.000000|1.000000	0.71417|0.71417	0.138000|0.138000	0.22173|0.22173	0.127000|0.127000	0.20565|0.20565	3.555000|3.555000	0.53727|0.53727	0.570000|0.570000	0.29347|0.29347	0.369000|0.369000	0.22263|0.22263	ACT|TAC		0.433	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		5	520	0	0	0	1	0	5	520				
PSD	5662	broad.mit.edu	37	10	104176584	104176584	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:104176584C>T	ENST00000020673.5	-	2	738	c.212G>A	c.(211-213)cGt>cAt	p.R71H	PSD_ENST00000406432.1_Missense_Mutation_p.R71H|FBXL15_ENST00000224862.3_5'Flank|PSD_ENST00000492902.2_5'UTR	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	71	Pro-rich.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GGGGGGGCCACGCAGAGGTGT	0.672																																						ENST00000020673.5																			0				breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(211-213)cGt>cAt		pleckstrin and Sec7 domain containing							39.0	43.0	42.0					10																	104176584		2197	4288	6485	SO:0001583	missense	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104176584C>T	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.212G>A	10.37:g.104176584C>T	ENSP00000020673:p.Arg71His					PSD_ENST00000492902.2_5'UTR|PSD_ENST00000406432.1_Missense_Mutation_p.R71H	p.R71H	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	2	738	-			71			Pro-rich.		B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	c.212G>A	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452370	0.63290	.	.	ENSG00000059915	ENST00000020673;ENST00000406432	T;T	0.26810	1.71;1.71	5.08	3.14	0.36123	.	0.205230	0.27876	N	0.017489	T	0.17280	0.0415	N	0.08118	0	0.27662	N	0.947057	D	0.54047	0.964	P	0.47744	0.556	T	0.05500	-1.0881	10	0.66056	D	0.02	.	10.5792	0.45246	0.1505:0.7046:0.1449:0.0	.	71	A5PKW4	PSD1_HUMAN	H	71	ENSP00000020673:R71H;ENSP00000384830:R71H	ENSP00000020673:R71H	R	-	2	0	PSD	104166574	1.000000	0.71417	0.880000	0.34516	0.986000	0.74619	3.738000	0.55067	0.495000	0.27882	0.561000	0.74099	CGT		0.672	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			183	531	0	0	0	1	0	183	531				
MUC17	140453	broad.mit.edu	37	7	100683689	100683689	+	Missense_Mutation	SNP	C	C	T	rs540856466	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:100683689C>T	ENST00000306151.4	+	3	9056	c.8992C>T	c.(8992-8994)Ccg>Tcg	p.P2998S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2998	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)					CAGCACCATGCCGGTGGCCAG	0.507													C|||	2	0.000399361	0.0	0.0029	5008	,	,		25028	0.0		0.0	False		,,,				2504	0.0					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.(8992-8994)Ccg>Tcg		mucin 17, cell surface associated							250.0	262.0	258.0					7																	100683689		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683689C>T	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.8992C>T	7.37:g.100683689C>T	ENSP00000302716:p.Pro2998Ser						p.P2998S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	9056	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2998			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8992C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.230	-1.021399	0.02061	.	.	ENSG00000169876	ENST00000306151	T	0.06608	3.28	.	.	.	.	.	.	.	.	T	0.05686	0.0149	N	0.17082	0.46	0.09310	N	1	D	0.57571	0.98	P	0.59424	0.857	T	0.06935	-1.0799	7	0.09084	T	0.74	.	.	.	.	.	2998	Q685J3	MUC17_HUMAN	S	2998	ENSP00000302716:P2998S	ENSP00000302716:P2998S	P	+	1	0	MUC17	100470409	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-4.091000	0.00297	-1.495000	0.01831	-1.492000	0.00969	CCG		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		10	1947	0	0	0	1	0	10	1947				
RSPO4	343637	broad.mit.edu	37	20	944604	944604	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:944604C>T	ENST00000217260.4	-	4	665	c.569G>A	c.(568-570)tGt>tAt	p.C190Y	RSPO4_ENST00000400634.2_Intron	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	190	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	heparin binding (GO:0008201)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						CTGGATGGGACATTTCCTTGA	0.672																																						ENST00000217260.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(568-570)tGt>tAt		R-spondin 4							48.0	54.0	52.0					20																	944604		2011	4180	6191	SO:0001583	missense	343637				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr20:944604C>T	AK122609	CCDS42845.1, CCDS42846.1	20p13	2014-01-30	2011-06-29	2005-08-08	ENSG00000101282	ENSG00000101282		"""Endogenous ligands"""	16175	protein-coding gene	gene with protein product		610573	"""chromosome 20 open reading frame 182"", ""R-spondin family, member 4"""	C20orf182		15469841	Standard	NM_001029871		Approved	dJ824F16.3	uc002wej.3	Q2I0M5	OTTHUMG00000031651	ENST00000217260.4:c.569G>A	20.37:g.944604C>T	ENSP00000217260:p.Cys190Tyr					RSPO4_ENST00000400634.2_Intron	p.C190Y	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN			4	665	-			190			TSP type-1.		A2A2I6|Q9UGB2	Missense_Mutation	SNP	ENST00000217260.4	37	c.569G>A	CCDS42846.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674741	0.67928	.	.	ENSG00000101282	ENST00000217260	D	0.93426	-3.22	4.44	4.44	0.53790	.	0.143259	0.46758	D	0.000279	D	0.96716	0.8928	M	0.92507	3.315	0.80722	D	1	D	0.58620	0.983	P	0.56700	0.804	D	0.97849	1.0273	10	0.87932	D	0	-21.0985	16.0364	0.80631	0.0:1.0:0.0:0.0	.	190	Q2I0M5	RSPO4_HUMAN	Y	190	ENSP00000217260:C190Y	ENSP00000217260:C190Y	C	-	2	0	RSPO4	892604	1.000000	0.71417	0.959000	0.39883	0.814000	0.46013	5.886000	0.69743	2.206000	0.71126	0.298000	0.19748	TGT		0.672	RSPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077492.3	XM_297816		55	382	0	0	0	1	0	55	382				
DENND4B	9909	broad.mit.edu	37	1	153905124	153905124	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:153905124G>T	ENST00000361217.4	-	23	4171	c.3753C>A	c.(3751-3753)caC>caA	p.H1251Q	DENND4B_ENST00000474386.1_5'UTR	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1251					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTACCCCCATGTGCCCGTTGC	0.632																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(3751-3753)caC>caA		DENN/MADD domain containing 4B							44.0	50.0	48.0					1																	153905124		2002	4167	6169	SO:0001583	missense	9909							g.chr1:153905124G>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.3753C>A	1.37:g.153905124G>T	ENSP00000354597:p.His1251Gln					DENND4B_ENST00000474386.1_5'UTR	p.H1251Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		23	4171	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		1251					Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.3753C>A	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	G	1.146	-0.648022	0.03506	.	.	ENSG00000198837	ENST00000361217	T	0.06142	3.34	5.31	0.252	0.15545	.	0.526818	0.20690	N	0.087470	T	0.00754	0.0025	N	0.03608	-0.345	0.20821	N	0.999842	B	0.19817	0.039	B	0.14023	0.01	T	0.46247	-0.9205	10	0.27082	T	0.32	-26.6206	7.4632	0.27306	0.4697:0.0:0.5303:0.0	.	1251	O75064	DEN4B_HUMAN	Q	1251	ENSP00000354597:H1251Q	ENSP00000354597:H1251Q	H	-	3	2	DENND4B	152171748	0.914000	0.31030	0.062000	0.19696	0.334000	0.28698	1.260000	0.32968	-0.097000	0.12307	-0.252000	0.11476	CAC		0.632	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		10	493	1	0	2.27111e-07	1	2.37892e-07	10	493				
WNT3A	89780	broad.mit.edu	37	1	228238532	228238532	+	Silent	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:228238532G>T	ENST00000284523.1	+	3	567	c.489G>T	c.(487-489)ggG>ggT	p.G163G	WNT3A_ENST00000366753.2_Silent_p.G163G	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	163					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				AGTTTGGTGGGATGGTGTCTC	0.667																																						ENST00000284523.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12						c.(487-489)ggG>ggT		wingless-type MMTV integration site family, member 3A							107.0	102.0	104.0					1																	228238532		2203	4300	6503	SO:0001819	synonymous_variant	89780				axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity	g.chr1:228238532G>T	AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.489G>T	1.37:g.228238532G>T						WNT3A_ENST00000366753.2_Silent_p.G163G	p.G163G	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN			3	567	+		Prostate(94;0.0405)	163					Q3SY79|Q3SY80|Q969P2	Silent	SNP	ENST00000284523.1	37	c.489G>T	CCDS1564.1																																																																																				0.667	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1	NM_033131		16	513	1	0	4.7546e-09	1	5.04415e-09	16	513				
SLC6A18	348932	broad.mit.edu	37	5	1244416	1244416	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:1244416C>T	ENST00000324642.3	+	10	1547	c.1424C>T	c.(1423-1425)gCc>gTc	p.A475V	SLC6A18_ENST00000296821.4_Missense_Mutation_p.A373V	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	475					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GACAATTTTGCCGCTTCCCCG	0.582																																						ENST00000324642.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.(1423-1425)gCc>gTc		solute carrier family 6 (neutral amino acid transporter), member 18							147.0	147.0	147.0					5																	1244416		2203	4300	6503	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1244416C>T	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1424C>T	5.37:g.1244416C>T	ENSP00000323549:p.Ala475Val					SLC6A18_ENST00000296821.4_Missense_Mutation_p.A373V	p.A475V	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		10	1547	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		475						Missense_Mutation	SNP	ENST00000324642.3	37	c.1424C>T	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975383	0.34848	.	.	ENSG00000164363	ENST00000324642;ENST00000296821	T;T	0.76578	-1.03;-1.03	4.87	-1.66	0.08265	.	0.373560	0.27126	N	0.020814	T	0.58177	0.2104	N	0.21617	0.685	0.09310	N	1	B	0.16802	0.019	B	0.15052	0.012	T	0.49341	-0.8950	10	0.87932	D	0	.	5.9492	0.19235	0.0:0.3423:0.141:0.5167	.	475	Q96N87	S6A18_HUMAN	V	475;373	ENSP00000323549:A475V;ENSP00000296821:A373V	ENSP00000296821:A373V	A	+	2	0	SLC6A18	1297416	0.226000	0.23696	0.000000	0.03702	0.001000	0.01503	0.643000	0.24750	-0.361000	0.08125	-1.036000	0.02392	GCC		0.582	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		8	1324	0	0	0	1	0	8	1324				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		59	16	0	0	0	1	0	59	16				
RAB11FIP5	26056	broad.mit.edu	37	2	73316366	73316366	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:73316366C>T	ENST00000258098.6	-	2	749	c.509G>A	c.(508-510)cGc>cAc	p.R170H	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	170					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CAGGTTGTTGCGCGTGAACTG	0.532																																						ENST00000258098.6																			0				biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						c.(508-510)cGc>cAc		RAB11 family interacting protein 5 (class I)							328.0	319.0	322.0					2																	73316366		2203	4300	6503	SO:0001583	missense	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73316366C>T	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.509G>A	2.37:g.73316366C>T	ENSP00000258098:p.Arg170His					RAB11FIP5_ENST00000493523.2_5'UTR	p.R170H	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN			2	749	-			170					O94939|Q9P0M1	Missense_Mutation	SNP	ENST00000258098.6	37	c.509G>A	CCDS1923.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822055	0.90873	.	.	ENSG00000135631	ENST00000258098	T	0.33216	1.42	4.6	4.6	0.57074	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.57213	0.2038	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.60672	-0.7217	10	0.54805	T	0.06	-18.9627	16.5264	0.84332	0.0:1.0:0.0:0.0	.	170;170	Q9BXF6;Q2Z1P3	RFIP5_HUMAN;.	H	170	ENSP00000258098:R170H	ENSP00000258098:R170H	R	-	2	0	RAB11FIP5	73169874	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	5.936000	0.70153	2.570000	0.86706	0.561000	0.74099	CGC		0.532	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		11	1439	0	0	0	1	0	11	1439				
ABCB1	5243	broad.mit.edu	37	7	87229495	87229495	+	Missense_Mutation	SNP	A	A	C	rs373703839		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:87229495A>C	ENST00000265724.3	-	3	423	c.6T>G	c.(4-6)gaT>gaG	p.D2E	ABCB1_ENST00000543898.1_Missense_Mutation_p.D2E	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	2					drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	CCCCTTCAAGATCCATTCCGA	0.458																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(4-6)gaT>gaG		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						80.0	76.0	78.0					7																	87229495		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87229495A>C	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.6T>G	7.37:g.87229495A>C	ENSP00000265724:p.Asp2Glu					ABCB1_ENST00000543898.1_Missense_Mutation_p.D2E	p.D2E	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			3	423	-	Esophageal squamous(14;0.00164)		2					A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.6T>G	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	A	7.979	0.750747	0.15778	.	.	ENSG00000085563	ENST00000265724;ENST00000543898;ENST00000416177;ENST00000394661	D;D;T	0.87966	-2.21;-2.32;1.9	3.89	-4.18	0.03846	.	1.413240	0.05199	N	0.504565	T	0.68284	0.2984	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.12156	0.0;0.007	T	0.54309	-0.8313	10	0.21540	T	0.41	-8.3796	1.998	0.03461	0.2186:0.4511:0.178:0.1522	.	2;2	B5AK60;P08183	.;MDR1_HUMAN	E	2	ENSP00000265724:D2E;ENSP00000444095:D2E;ENSP00000399419:D2E	ENSP00000265724:D2E	D	-	3	2	ABCB1	87067431	0.221000	0.23642	0.014000	0.15608	0.035000	0.12851	0.083000	0.14871	-0.773000	0.04596	0.533000	0.62120	GAT		0.458	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		14	139	0	0	0	1	0	14	139				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		18	447	0	0	0	1	0	18	447				
BMS1P20	96610	broad.mit.edu	37	22	22661272	22661272	+	RNA	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr22:22661272C>T	ENST00000426066.1	+	0	360					NR_027293.1				BMS1 pseudogene 20																		CTGGGATGTACGTCTGCGTTG	0.488																																						ENST00000426066.1																			0																																																			0							g.chr22:22661272C>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661272C>T								NR_027293.1						0	360	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.488	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			7	314	0	0	0	1	0	7	314				
FOXD4	2298	broad.mit.edu	37	9	118035	118035	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:118035C>T	ENST00000382500.2	-	1	382	c.85G>A	c.(85-87)Gtc>Atc	p.V29I		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	29					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TCTCCCAGGACATCGATTTTA	0.652																																						ENST00000382500.2																			0				endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14						c.(85-87)Gtc>Atc		forkhead box D4							49.0	60.0	56.0					9																	118035		2203	4300	6503	SO:0001583	missense	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:118035C>T	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.85G>A	9.37:g.118035C>T	ENSP00000371940:p.Val29Ile						p.V29I	NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	382	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	29					B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Missense_Mutation	SNP	ENST00000382500.2	37	c.85G>A	CCDS34975.1	.	.	.	.	.	.	.	.	.	.	.	5.226	0.227116	0.09916	.	.	ENSG00000170122	ENST00000382500	D	0.94723	-3.5	2.31	-0.482	0.12078	.	0.426697	0.13546	N	0.379836	D	0.82628	0.5078	N	0.04880	-0.145	0.23401	N	0.997757	B	0.06786	0.001	B	0.04013	0.001	T	0.69892	-0.5022	10	0.16420	T	0.52	.	5.686	0.17803	0.0:0.3505:0.0:0.6495	.	29	Q12950	FOXD4_HUMAN	I	29	ENSP00000371940:V29I	ENSP00000371940:V29I	V	-	1	0	FOXD4	108035	0.591000	0.26824	0.516000	0.27786	0.010000	0.07245	0.815000	0.27253	-0.311000	0.08754	-1.320000	0.01293	GTC		0.652	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		31	666	0	0	0	1	0	31	666				
PDZD2	23037	broad.mit.edu	37	5	32088593	32088593	+	Missense_Mutation	SNP	C	C	T	rs200564667		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:32088593C>T	ENST00000438447.1	+	20	5427	c.5039C>T	c.(5038-5040)gCg>gTg	p.A1680V	PDZD2_ENST00000282493.3_Missense_Mutation_p.A1680V			O15018	PDZD2_HUMAN	PDZ domain containing 2	1680					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAAACTCATGCGGACATAAGC	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		21045	0.0		0.0	False		,,,				2504	0.001					ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(5038-5040)gCg>gTg		PDZ domain containing 2		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	84.0	84.0	84.0		5039	-7.7	0.0	5		84	0,8600		0,0,4300	no	missense	PDZD2	NM_178140.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	1680/2840	32088593	1,13005	2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32088593C>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.5039C>T	5.37:g.32088593C>T	ENSP00000402033:p.Ala1680Val					PDZD2_ENST00000282493.3_Missense_Mutation_p.A1680V	p.A1680V			O15018	PDZD2_HUMAN			20	5427	+			1680					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.5039C>T	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.314406	0.23908	2.27E-4	0.0	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.06068	3.35;3.35	5.16	-7.73	0.01245	.	1.746680	0.02740	N	0.116181	T	0.04363	0.0120	L	0.42245	1.32	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41770	-0.9490	10	0.11485	T	0.65	.	1.9039	0.03273	0.1904:0.299:0.101:0.4097	.	1680	O15018	PDZD2_HUMAN	V	1680;1481;1680	ENSP00000402033:A1680V;ENSP00000282493:A1680V	ENSP00000282493:A1680V	A	+	2	0	PDZD2	32124350	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.537000	0.02206	-2.104000	0.00843	-2.244000	0.00286	GCG		0.537	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			8	992	0	0	0	1	0	8	992				
FBXW10	10517	broad.mit.edu	37	17	18653098	18653098	+	Missense_Mutation	SNP	G	G	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:18653098G>C	ENST00000395665.4	+	3	955	c.734G>C	c.(733-735)gGa>gCa	p.G245A	FBXW10_ENST00000301938.4_Missense_Mutation_p.G245A|FBXW10_ENST00000395667.1_Missense_Mutation_p.G245A|FBXW10_ENST00000308799.4_Missense_Mutation_p.G245A			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	245								p.G245A(6)		NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCTGGAAAAGGAGACATAACC	0.468																																						ENST00000308799.4																			6	Substitution - Missense(6)	p.G245A(6)	endometrium(6)	NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(733-735)gGa>gCa		F-box and WD repeat domain containing 10							231.0	173.0	193.0					17																	18653098		2203	4300	6503	SO:0001583	missense	10517							g.chr17:18653098G>C	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.734G>C	17.37:g.18653098G>C	ENSP00000379025:p.Gly245Ala					FBXW10_ENST00000395667.1_Missense_Mutation_p.G245A|FBXW10_ENST00000301938.4_Missense_Mutation_p.G245A|FBXW10_ENST00000395665.4_Missense_Mutation_p.G245A	p.G245A			Q5XX13	FBW10_HUMAN			3	953	+			245					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	c.734G>C	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.343101	0.01277	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	2.49	-4.98	0.03019	.	1.434070	0.05440	N	0.547512	T	0.12987	0.0315	N	0.16307	0.4	0.09310	N	1	B;B;B;B	0.09022	0.001;0.001;0.002;0.001	B;B;B;B	0.08055	0.003;0.003;0.001;0.003	T	0.28522	-1.0041	10	0.06236	T	0.91	.	4.4282	0.11515	0.0:0.2164:0.3696:0.414	.	245;245;245;245	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	A	245	ENSP00000379026:G245A;ENSP00000310382:G245A;ENSP00000306937:G245A;ENSP00000379025:G245A	ENSP00000306937:G245A	G	+	2	0	FBXW10	18593823	0.000000	0.05858	0.000000	0.03702	0.372000	0.29890	-0.502000	0.06390	-0.939000	0.03709	-0.750000	0.03501	GGA		0.468	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		5	793	0	0	0	1	0	5	793				
FAM131B	9715	broad.mit.edu	37	7	143053772	143053772	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:143053772G>A	ENST00000409408.1	-	6	2578	c.870C>T	c.(868-870)tgC>tgT	p.C290C	FAM131B_ENST00000409578.1_Silent_p.C306C|FAM131B_ENST00000409346.1_Silent_p.C290C|FAM131B_ENST00000443739.2_Silent_p.C318C|FAM131B_ENST00000409222.3_Silent_p.C290C			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	290										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					CCAGGTCCCGGCATCCCGCAT	0.622																																						ENST00000409408.1																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						c.(868-870)tgC>tgT		family with sequence similarity 131, member B							163.0	169.0	167.0					7																	143053772		2203	4300	6503	SO:0001819	synonymous_variant	9715							g.chr7:143053772G>A	BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.870C>T	7.37:g.143053772G>A						FAM131B_ENST00000409578.1_Silent_p.C306C|FAM131B_ENST00000409346.1_Silent_p.C290C|FAM131B_ENST00000409222.3_Silent_p.C290C|FAM131B_ENST00000443739.2_Silent_p.C318C	p.C290C			Q86XD5	F131B_HUMAN			6	2578	-	Melanoma(164;0.205)		290					A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Silent	SNP	ENST00000409408.1	37	c.870C>T	CCDS5882.1																																																																																				0.622	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328057.1	NM_014690		7	1204	0	0	0	1	0	7	1204				
DPEP2	64174	broad.mit.edu	37	16	68024785	68024785	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:68024785G>A	ENST00000572888.1	-	6	1498	c.848C>T	c.(847-849)tCg>tTg	p.S283L	DPEP2_ENST00000412757.2_Missense_Mutation_p.S283L|DPEP2_ENST00000393847.1_Missense_Mutation_p.S283L			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	283					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CCGGGCAGCCGAGTGGGAGAA	0.572																																						ENST00000412757.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17						c.(847-849)tCg>tTg		dipeptidase 2							118.0	118.0	118.0					16																	68024785		2198	4300	6498	SO:0001583	missense	64174				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68024785G>A	AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.848C>T	16.37:g.68024785G>A	ENSP00000458977:p.Ser283Leu					DPEP2_ENST00000393847.1_Missense_Mutation_p.S283L|DPEP2_ENST00000572888.1_Missense_Mutation_p.S283L	p.S283L			Q9H4A9	DPEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)	8	1513	-		Ovarian(137;0.192)	283					B2RCF8|Q6UX92|Q8TC95	Missense_Mutation	SNP	ENST00000572888.1	37	c.848C>T	CCDS10857.1	.	.	.	.	.	.	.	.	.	.	G	35	5.509483	0.96386	.	.	ENSG00000167261	ENST00000393847;ENST00000412757;ENST00000322384	T;T	0.39997	1.05;1.05	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.75649	0.3878	H	0.96518	3.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.83339	-0.0009	10	0.87932	D	0	-10.9443	16.3962	0.83605	0.0:0.0:1.0:0.0	.	283;196	Q9H4A9;Q9H4A9-2	DPEP2_HUMAN;.	L	283;283;196	ENSP00000377430:S283L;ENSP00000412549:S283L	ENSP00000314702:S196L	S	-	2	0	DPEP2	66582286	1.000000	0.71417	0.986000	0.45419	0.994000	0.84299	8.928000	0.92853	2.822000	0.97130	0.650000	0.86243	TCG		0.572	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1	NM_022355		61	683	0	0	0	1	0	61	683				
BRINP3	339479	broad.mit.edu	37	1	190067701	190067701	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:190067701C>T	ENST00000367462.3	-	8	1979	c.1748G>A	c.(1747-1749)aGc>aAc	p.S583N	BRINP3_ENST00000534846.1_Missense_Mutation_p.S481N	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	583					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											CATAAACCAGCTCTCAGAGTG	0.468																																						ENST00000367462.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(1747-1749)aGc>aAc									108.0	113.0	112.0					1																	190067701		2203	4300	6503	SO:0001583	missense	0					extracellular region		g.chr1:190067701C>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1748G>A	1.37:g.190067701C>T	ENSP00000356432:p.Ser583Asn					FAM5C_ENST00000534846.1_Missense_Mutation_p.S481N|FAM5C_ENST00000484105.1_5'UTR	p.S583N	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			8	1979	-	Prostate(682;0.198)		583					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1748G>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858923	0.71834	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.25912	2.02;1.77	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.51719	0.1691	M	0.70275	2.135	0.58432	D	0.999999	D;D	0.61080	0.989;0.981	D;D	0.70487	0.969;0.932	T	0.50448	-0.8827	10	0.72032	D	0.01	-2.16	17.5848	0.87978	0.0:1.0:0.0:0.0	.	481;583	B7Z260;Q76B58	.;FAM5C_HUMAN	N	583;481	ENSP00000356432:S583N;ENSP00000438022:S481N	ENSP00000356432:S583N	S	-	2	0	FAM5C	188334324	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.734000	0.84928	2.755000	0.94549	0.591000	0.81541	AGC		0.468	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		344	1051	0	0	0	1	0	344	1051				
SCN4A	6329	broad.mit.edu	37	17	62045516	62045516	+	Silent	SNP	G	G	A	rs201411232		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:62045516G>A	ENST00000435607.1	-	6	979	c.903C>T	c.(901-903)taC>taT	p.Y301Y	SCN4A_ENST00000578147.1_Silent_p.Y301Y	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	301					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGTCATTGCCGTACCACGTGT	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		20556	0.0		0.001	False		,,,				2504	0.0					ENST00000578147.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(901-903)taC>taT		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						289.0	283.0	285.0					17																	62045516		2178	4279	6457	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62045516G>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.903C>T	17.37:g.62045516G>A						SCN4A_ENST00000435607.1_Silent_p.Y301Y	p.Y301Y			P35499	SCN4A_HUMAN			6	979	-			301					Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.903C>T	CCDS45761.1																																																																																				0.552	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		6	704	0	0	0	1	0	6	704				
NOL8	55035	broad.mit.edu	37	9	95077502	95077502	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:95077502C>T	ENST00000535387.1	-	6	1404	c.1405G>A	c.(1405-1407)Gaa>Aaa	p.E469K	NOL8_ENST00000545558.1_Missense_Mutation_p.E469K|NOL8_ENST00000442668.2_Missense_Mutation_p.E469K|NOL8_ENST00000542053.1_Missense_Mutation_p.E401K|NOL8_ENST00000358855.4_Missense_Mutation_p.E401K					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TCACCTCCTTCAGAGTCAGCT	0.443																																						ENST00000545558.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						c.(1405-1407)Gaa>Aaa		nucleolar protein 8							63.0	59.0	60.0					9																	95077502		1910	4144	6054	SO:0001583	missense	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95077502C>T	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.1405G>A	9.37:g.95077502C>T	ENSP00000441300:p.Glu469Lys					NOL8_ENST00000542053.1_Missense_Mutation_p.E401K|NOL8_ENST00000442668.2_Missense_Mutation_p.E469K|NOL8_ENST00000535387.1_Missense_Mutation_p.E469K|NOL8_ENST00000358855.4_Missense_Mutation_p.E401K	p.E469K			Q76FK4	NOL8_HUMAN			7	1897	-			469						Missense_Mutation	SNP	ENST00000535387.1	37	c.1405G>A	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774843	0.31411	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670	T;T;T;T;T;T	0.19669	2.41;2.42;2.41;2.62;2.42;2.13	5.69	4.79	0.61399	.	0.395189	0.30593	N	0.009286	T	0.23370	0.0565	L	0.38175	1.15	0.30787	N	0.741381	D	0.53619	0.961	P	0.47206	0.541	T	0.10894	-1.0610	10	0.72032	D	0.01	-10.2418	13.4958	0.61426	0.2841:0.7158:0.0:0.0	.	469	Q76FK4	NOL8_HUMAN	K	469;471;401;469;469;401;469	ENSP00000401177:E469K;ENSP00000351723:E401K;ENSP00000441140:E469K;ENSP00000441300:E469K;ENSP00000440709:E401K;ENSP00000414112:E469K	ENSP00000351723:E401K	E	-	1	0	NOL8	94117323	0.003000	0.15002	0.016000	0.15963	0.385000	0.30292	0.380000	0.20602	1.385000	0.46445	0.655000	0.94253	GAA		0.443	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		111	158	0	0	0	1	0	111	158				
COL12A1	1303	broad.mit.edu	37	6	75884785	75884785	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:75884785G>A	ENST00000322507.8	-	13	2988	c.2679C>T	c.(2677-2679)gaC>gaT	p.D893D	COL12A1_ENST00000483888.2_Silent_p.D893D|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Silent_p.D893D	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	893	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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						CAAAGAGGGCGTCTCCAGCCC	0.468																																						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.(2677-2679)gaC>gaT		collagen, type XII, alpha 1							190.0	186.0	187.0					6																	75884785		1983	4159	6142	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.chr6:75884785G>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.2679C>T	6.37:g.75884785G>A						COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Silent_p.D893D|COL12A1_ENST00000416123.2_Silent_p.D893D	p.D893D	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			13	2988	-			893			Fibronectin type-III 5.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.2679C>T	CCDS43482.1																																																																																				0.468	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		62	782	0	0	0	1	0	62	782				
NLRP2	55655	broad.mit.edu	37	19	55494011	55494011	+	Silent	SNP	C	C	T	rs139643111		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:55494011C>T	ENST00000543010.1	+	6	1088	c.945C>T	c.(943-945)ccC>ccT	p.P315P	NLRP2_ENST00000538819.1_Silent_p.P291P|NLRP2_ENST00000339757.7_Silent_p.P293P|NLRP2_ENST00000537859.1_Silent_p.P293P|NLRP2_ENST00000263437.6_Silent_p.P312P|NLRP2_ENST00000448584.2_Silent_p.P315P|NLRP2_ENST00000427260.2_Silent_p.P292P|NLRP2_ENST00000391721.4_Silent_p.P291P	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	315	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGCCGGTGCCCGTCCTCCTGG	0.637																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(943-945)ccC>ccT		NLR family, pyrin domain containing 2		C	,,,	0,4406		0,0,2203	47.0	43.0	44.0		945,879,876,945	-3.1	0.0	19	dbSNP_134	44	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NLRP2	NM_001174081.1,NM_001174082.1,NM_001174083.1,NM_017852.3	,,,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,,,	315/1063,293/1041,292/1040,315/1063	55494011	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494011C>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.945C>T	19.37:g.55494011C>T						NLRP2_ENST00000263437.6_Silent_p.P312P|NLRP2_ENST00000537859.1_Silent_p.P293P|NLRP2_ENST00000339757.7_Silent_p.P293P|NLRP2_ENST00000427260.2_Silent_p.P292P|NLRP2_ENST00000391721.4_Silent_p.P291P|NLRP2_ENST00000448584.2_Silent_p.P315P|NLRP2_ENST00000538819.1_Silent_p.P291P	p.P315P	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	1088	+			315			NACHT.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	c.945C>T	CCDS12913.1																																																																																				0.637	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		23	379	0	0	0	1	0	23	379				
OR10K2	391107	broad.mit.edu	37	1	158390071	158390071	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:158390071G>A	ENST00000314902.2	-	1	585	c.586C>T	c.(586-588)Cag>Tag	p.Q196*		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	196						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)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					ATGACAATCTGACTAAAGTGG	0.438																																						ENST00000314902.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(586-588)Cag>Tag		olfactory receptor, family 10, subfamily K, member 2							151.0	133.0	139.0					1																	158390071		2203	4300	6503	SO:0001587	stop_gained	391107				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158390071G>A	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.586C>T	1.37:g.158390071G>A	ENSP00000324251:p.Gln196*						p.Q196*	NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN			1	585	-	all_hematologic(112;0.0378)		196						Nonsense_Mutation	SNP	ENST00000314902.2	37	c.586C>T	CCDS30896.1	.	.	.	.	.	.	.	.	.	.	g	6.590	0.477260	0.12521	.	.	ENSG00000180708	ENST00000314902	.	.	.	4.13	2.14	0.27477	.	0.000000	0.44688	D	0.000432	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	3.8166	0.08818	0.0921:0.1662:0.5698:0.1718	.	.	.	.	X	196	.	ENSP00000324251:Q196X	Q	-	1	0	OR10K2	156656695	0.011000	0.17503	0.079000	0.20413	0.006000	0.05464	0.554000	0.23407	0.445000	0.26639	-0.532000	0.04303	CAG		0.438	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		191	605	0	0	0	1	0	191	605				
ANKRD20A5P	440482	broad.mit.edu	37	18	14184029	14184029	+	RNA	SNP	T	T	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr18:14184029T>C	ENST00000581935.1	+	0	718							A0PJZ0	A20A5_HUMAN	ankyrin repeat domain 20 family, member A5, pseudogene											lung(3)	3						TCCATTATGCTGTGTATAGTG	0.438																																						ENST00000581935.1																			0				lung(3)	3															96.0	101.0	100.0					18																	14184029		2196	4287	6483			0							g.chr18:14184029T>C	BC022023		18p11.21	2011-06-01	2011-06-01	2011-06-01	ENSG00000186481	ENSG00000186481			33833	pseudogene	pseudogene			"""ankyrin repeat domain 20 family, member A5"""	ANKRD20A5			Standard	NR_040113		Approved	MGC26718	uc010xag.2	A0PJZ0	OTTHUMG00000157172		18.37:g.14184029T>C														0	718	+								Q4G1B6	RNA	SNP	ENST00000581935.1	37																																																																																						0.438	ANKRD20A5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000442833.1			13	1442	0	0	0	1	0	13	1442				
SLITRK6	84189	broad.mit.edu	37	13	86370131	86370131	+	Silent	SNP	A	A	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:86370131A>T	ENST00000400286.2	-	2	1111	c.513T>A	c.(511-513)gcT>gcA	p.A171A		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	171					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GACTCTCAATAGCATTGTCAT	0.368																																						ENST00000400286.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(511-513)gcT>gcA		SLIT and NTRK-like family, member 6							129.0	121.0	124.0					13																	86370131		1864	4091	5955	SO:0001819	synonymous_variant	84189					integral to membrane		g.chr13:86370131A>T	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.513T>A	13.37:g.86370131A>T							p.A171A	NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	1111	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		171					A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Silent	SNP	ENST00000400286.2	37	c.513T>A	CCDS41903.1																																																																																				0.368	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		270	663	0	0	0	1	0	270	663				
MEGF6	1953	broad.mit.edu	37	1	3407102	3407102	+	Missense_Mutation	SNP	G	G	A	rs199963086		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:3407102G>A	ENST00000356575.4	-	37	4842	c.4616C>T	c.(4615-4617)gCg>gTg	p.A1539V	RP11-168F9.2_ENST00000606489.1_lincRNA|MEGF6_ENST00000294599.4_Missense_Mutation_p.A1227V	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1539						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CTAGTGCCTCGCTGGTCCACC	0.672													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14542	0.0		0.0	False		,,,				2504	0.0				Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(4615-4617)gCg>gTg		multiple EGF-like-domains 6							29.0	37.0	35.0					1																	3407102		1971	4145	6116	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3407102G>A	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.4616C>T	1.37:g.3407102G>A	ENSP00000348982:p.Ala1539Val					MEGF6_ENST00000294599.4_Missense_Mutation_p.A1227V	p.A1539V	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	37	4842	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	1539					Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.4616C>T	CCDS41237.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	8.095	0.775361	0.16051	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.87809	-2.3;-1.88	3.16	-0.829	0.10796	.	.	.	.	.	T	0.72095	0.3418	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.59867	-0.7373	9	0.87932	D	0	.	2.7367	0.05242	0.4:0.0:0.3355:0.2644	.	1539;1227	O75095;O75095-2	MEGF6_HUMAN;.	V	1227;1539	ENSP00000294599:A1227V;ENSP00000348982:A1539V	ENSP00000294599:A1227V	A	-	2	0	MEGF6	3396962	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.748000	0.04818	-0.156000	0.11079	-0.229000	0.12294	GCG		0.672	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		9	121	0	0	0	1	0	9	121				
KIF9	64147	broad.mit.edu	37	3	47308515	47308515	+	Missense_Mutation	SNP	T	T	G	rs199777466		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:47308515T>G	ENST00000265529.3	-	8	1399	c.719A>C	c.(718-720)aAa>aCa	p.K240T	KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000444589.2_Missense_Mutation_p.K240T|KIF9_ENST00000352910.4_Missense_Mutation_p.K147T|KIF9_ENST00000335044.2_Missense_Mutation_p.K240T|KIF9_ENST00000452770.2_Missense_Mutation_p.K240T			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	240	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CAAGTTAATTTTGGAAGTGAT	0.483																																					Colon(44;962 1147 15977 24541)	ENST00000335044.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34						c.(718-720)aAa>aCa		kinesin family member 9							104.0	103.0	103.0					3																	47308515		2203	4300	6503	SO:0001583	missense	64147				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr3:47308515T>G	AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.719A>C	3.37:g.47308515T>G	ENSP00000265529:p.Lys240Thr					KIF9_ENST00000444589.2_Missense_Mutation_p.K240T|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000452770.2_Missense_Mutation_p.K240T|KIF9_ENST00000352910.4_Missense_Mutation_p.K147T|KIF9_ENST00000265529.3_Missense_Mutation_p.K240T	p.K240T	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	7	1076	-		Acute lymphoblastic leukemia(5;0.164)	240			Kinesin-motor.		Q86Z28|Q9H8A4	Missense_Mutation	SNP	ENST00000265529.3	37	c.719A>C	CCDS2752.1	.	.	.	.	.	.	.	.	.	.	T	32	5.115449	0.94339	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000444589;ENST00000452770;ENST00000352910	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	5.93	5.93	0.95920	Kinesin, motor domain (5);Kinesin, motor region, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.87684	0.6239	M	0.74647	2.275	0.48571	D	0.999679	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.88949	0.3385	10	0.87932	D	0	.	15.2111	0.73225	0.0:0.0:0.0:1.0	.	240;240	Q9HAQ2-2;Q9HAQ2	.;KIF9_HUMAN	T	240;240;240;240;147	ENSP00000333942:K240T;ENSP00000265529:K240T;ENSP00000414987:K240T;ENSP00000391100:K240T;ENSP00000292334:K147T	ENSP00000265529:K240T	K	-	2	0	KIF9	47283519	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.547000	0.67249	2.265000	0.75225	0.533000	0.62120	AAA		0.483	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2			73	430	0	0	0	1	0	73	430				
FREM2	341640	broad.mit.edu	37	13	39454821	39454821	+	Missense_Mutation	SNP	G	G	A	rs142012270		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:39454821G>A	ENST00000280481.7	+	24	9623	c.9407G>A	c.(9406-9408)aGg>aAg	p.R3136K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	3136					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTGATGTGCAGGGGCAAGGAA	0.582																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(9406-9408)aGg>aAg		FRAS1 related extracellular matrix protein 2		G	LYS/ARG	0,4406		0,0,2203	61.0	60.0	60.0		9407	-1.5	0.0	13	dbSNP_134	60	1,8599	1.2+/-3.3	0,1,4299	no	missense	FREM2	NM_207361.4	26	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	3136/3170	39454821	1,13005	2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39454821G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.9407G>A	13.37:g.39454821G>A	ENSP00000280481:p.Arg3136Lys						p.R3136K	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	24	9623	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	3136					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.9407G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	7.680	0.688906	0.14973	0.0	1.16E-4	ENSG00000150893	ENST00000280481	T	0.17528	2.27	5.43	-1.55	0.08558	.	0.443522	0.26549	N	0.023741	T	0.07728	0.0194	N	0.10916	0.065	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25916	-1.0118	10	0.35671	T	0.21	.	10.0903	0.42443	0.6461:0.0:0.3539:0.0	.	3136	Q5SZK8	FREM2_HUMAN	K	3136	ENSP00000280481:R3136K	ENSP00000280481:R3136K	R	+	2	0	FREM2	38352821	0.184000	0.23200	0.002000	0.10522	0.049000	0.14656	0.940000	0.28992	-0.516000	0.06470	-0.253000	0.11424	AGG		0.582	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		15	441	0	0	0	1	0	15	441				
WASH3P	374666	broad.mit.edu	37	15	102516411	102516411	+	RNA	SNP	C	C	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:102516411C>G	ENST00000557932.1	+	0	1359				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TCCATCCCTCCTCTGCCGCCA	0.662																																						ENST00000557932.1																			0				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102516411C>G			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102516411C>G														0	1359	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	c	13.72	2.320735	0.41096	.	.	ENSG00000185596	ENST00000398121;ENST00000378819	.	.	.	0.906	0.906	0.19314	.	0.000000	0.85682	D	0.000000	T	0.37461	0.1004	.	.	.	0.48087	D	0.999585	.	.	.	.	.	.	T	0.38866	-0.9641	4	.	.	.	-1.2973	5.193	0.15220	0.0:1.0:0.0:0.0	.	.	.	.	R	445;340	.	.	P	+	2	0	WASH3P	100333934	1.000000	0.71417	0.931000	0.37212	0.688000	0.40055	6.269000	0.72558	0.793000	0.33875	0.184000	0.17185	CCT		0.662	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		15	118	0	0	0	1	0	15	118				
SLC6A18	348932	broad.mit.edu	37	5	1232476	1232476	+	Splice_Site	SNP	T	T	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:1232476T>A	ENST00000324642.3	+	2	424		c.e2+2		SLC6A18_ENST00000296821.4_Splice_Site	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18						amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GTGGAGTAGGTAGGCCACCGT	0.682																																						ENST00000324642.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.e2+2		solute carrier family 6 (neutral amino acid transporter), member 18							29.0	29.0	29.0					5																	1232476		2201	4299	6500	SO:0001630	splice_region_variant	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1232476T>A	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.301+2T>A	5.37:g.1232476T>A						SLC6A18_ENST00000296821.4_Splice_Site		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		2	424	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)								Splice_Site	SNP	ENST00000324642.3	37		CCDS3860.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.128189	0.37533	.	.	ENSG00000164363	ENST00000324642;ENST00000296821	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7277	0.62767	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC6A18	1285476	1.000000	0.71417	0.317000	0.25265	0.066000	0.16364	5.389000	0.66255	2.069000	0.61940	0.402000	0.26972	.		0.682	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632	Intron	7	170	0	0	0	1	0	7	170				
ZNF398	57541	broad.mit.edu	37	7	148851398	148851398	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:148851398G>A	ENST00000475153.1	+	2	653	c.386G>A	c.(385-387)cGg>cAg	p.R129Q	ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.R134Q|ZNF398_ENST00000426851.2_5'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398	129					positive regulation of transcription, DNA-templated (GO:0045893)|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)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			TGGATCCTGCGGCTCCCTCCA	0.517																																						ENST00000475153.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25						c.(385-387)cGg>cAg		zinc finger protein 398							47.0	50.0	49.0					7																	148851398		2203	4300	6503	SO:0001583	missense	0				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148851398G>A	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"""Zinc fingers, C2H2-type"", ""-"""	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.386G>A	7.37:g.148851398G>A	ENSP00000420418:p.Arg129Gln					ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.R134Q	p.R129Q			Q8TD17	ZN398_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00143)		2	653	+	Melanoma(164;0.15)		129					A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	ENST00000475153.1	37	c.386G>A	CCDS5894.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950016	0.92660	.	.	ENSG00000197024	ENST00000475153;ENST00000540950	T;T	0.10099	2.91;2.93	5.18	5.18	0.71444	.	0.000000	0.45126	D	0.000395	T	0.29491	0.0735	M	0.64170	1.965	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.79108	0.968;0.992	T	0.00548	-1.1677	10	0.48119	T	0.1	-22.5854	14.2249	0.65853	0.0:0.0:1.0:0.0	.	134;129	B4DXA9;Q8TD17	.;ZN398_HUMAN	Q	129;134	ENSP00000420418:R129Q;ENSP00000439340:R134Q	ENSP00000420418:R129Q	R	+	2	0	ZNF398	148482331	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.370000	0.44240	2.420000	0.82092	0.655000	0.94253	CGG		0.517	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			208	266	0	0	0	1	0	208	266				
HECTD2	143279	broad.mit.edu	37	10	93221081	93221081	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:93221081G>A	ENST00000298068.5	+	4	572	c.478G>A	c.(478-480)Gat>Aat	p.D160N	HECTD2_ENST00000536715.1_5'Flank|HECTD2_ENST00000371681.4_Missense_Mutation_p.D160N|HECTD2_ENST00000446394.1_Missense_Mutation_p.D160N	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	160					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AACAACGTTTGATTCTTTCCC	0.269																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000446394.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						c.(478-480)Gat>Aat		HECT domain containing E3 ubiquitin protein ligase 2							92.0	108.0	103.0					10																	93221081		2201	4288	6489	SO:0001583	missense	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93221081G>A	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.478G>A	10.37:g.93221081G>A	ENSP00000298068:p.Asp160Asn					HECTD2_ENST00000371681.4_Missense_Mutation_p.D160N|HECTD2_ENST00000298068.5_Missense_Mutation_p.D160N	p.D160N			Q5U5R9	HECD2_HUMAN			4	578	+			160					Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	37	c.478G>A	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.888072	0.72524	.	.	ENSG00000165338	ENST00000446394;ENST00000371681;ENST00000298068	T;T;T	0.56275	1.16;0.47;1.17	5.1	5.1	0.69264	.	0.056638	0.64402	D	0.000002	T	0.66426	0.2788	L	0.50333	1.59	0.80722	D	1	B;B;D	0.71674	0.417;0.417;0.998	B;B;D	0.81914	0.158;0.158;0.995	T	0.60566	-0.7238	10	0.20519	T	0.43	.	18.107	0.89523	0.0:0.0:1.0:0.0	.	160;160;160	E7ERR3;Q5U5R9;Q5VZ98	.;HECD2_HUMAN;.	N	160	ENSP00000401023:D160N;ENSP00000360746:D160N;ENSP00000298068:D160N	ENSP00000298068:D160N	D	+	1	0	HECTD2	93211061	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.253000	0.89842	2.372000	0.80975	0.467000	0.42956	GAT		0.269	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			30	939	0	0	0	1	0	30	939				
FTSJ3	117246	broad.mit.edu	37	17	61901211	61901211	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:61901211C>T	ENST00000427159.2	-	13	1901	c.1256G>A	c.(1255-1257)gGc>gAc	p.G419D		NM_017647.3	NP_060117.3			FtsJ homolog 3 (E. coli)											breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GGAGAACATGCCAGTCTCCCC	0.567																																						ENST00000427159.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1255-1257)gGc>gAc		FtsJ homolog 3 (E. coli)							131.0	122.0	125.0					17																	61901211		2203	4300	6503	SO:0001583	missense	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61901211C>T	AF327355	CCDS11644.1	17q23.3	2014-09-11			ENSG00000108592	ENSG00000108592			17136	protein-coding gene	gene with protein product	"""SPB1 RNA methyltransferase homolog (S. cerevisiae)"""						Standard	NM_017647		Approved	SPB1	uc002jca.3	Q8IY81	OTTHUMG00000179012	ENST00000427159.2:c.1256G>A	17.37:g.61901211C>T	ENSP00000396673:p.Gly419Asp						p.G419D	NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN			13	1901	-			419						Missense_Mutation	SNP	ENST00000427159.2	37	c.1256G>A	CCDS11644.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707650	0.48412	.	.	ENSG00000108592	ENST00000427159	T	0.27557	1.66	5.65	5.65	0.86999	.	0.142754	0.50627	D	0.000111	T	0.37265	0.0997	L	0.39898	1.24	0.40987	D	0.984821	D	0.65815	0.995	P	0.57425	0.82	T	0.03684	-1.1013	10	0.02654	T	1	-24.3144	17.2626	0.87075	0.0:1.0:0.0:0.0	.	419	Q8IY81	RRMJ3_HUMAN	D	419	ENSP00000396673:G419D	ENSP00000396673:G419D	G	-	2	0	FTSJ3	59254943	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.528000	0.60580	2.941000	0.99782	0.655000	0.94253	GGC		0.567	FTSJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444386.1			6	750	0	0	0	1	0	6	750				
SIN3A	25942	broad.mit.edu	37	15	75664478	75664478	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:75664478C>T	ENST00000394947.3	-	21	3978	c.3664G>A	c.(3664-3666)Gtg>Atg	p.V1222M	SIN3A_ENST00000360439.4_Missense_Mutation_p.V1222M|SIN3A_ENST00000394949.4_Missense_Mutation_p.V1222M|RP11-817O13.8_ENST00000563278.1_lincRNA	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TCACGGGGCACATGCTCCTTG	0.517																																						ENST00000394947.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						c.(3664-3666)Gtg>Atg		SIN3 transcription regulator family member A							137.0	131.0	133.0					15																	75664478		2197	4294	6491	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75664478C>T	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.3664G>A	15.37:g.75664478C>T	ENSP00000378402:p.Val1222Met					SIN3A_ENST00000394949.4_Missense_Mutation_p.V1222M|SIN3A_ENST00000360439.4_Missense_Mutation_p.V1222M	p.V1222M	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN			21	3978	-			1222						Missense_Mutation	SNP	ENST00000394947.3	37	c.3664G>A	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402483	0.83230	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.55234	0.53;0.53;0.53	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.74816	0.3766	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78669	-0.2114	10	0.72032	D	0.01	-13.68	17.6621	0.88195	0.0:1.0:0.0:0.0	.	1222	Q96ST3	SIN3A_HUMAN	M	1222	ENSP00000378402:V1222M;ENSP00000378403:V1222M;ENSP00000353622:V1222M	ENSP00000353622:V1222M	V	-	1	0	SIN3A	73451531	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.718000	0.84743	2.419000	0.82065	0.491000	0.48974	GTG		0.517	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		50	318	0	0	0	1	0	50	318				
RARB	5915	broad.mit.edu	37	3	25637964	25637964	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:25637964C>T	ENST00000404969.1	+	8	1225	c.1225C>T	c.(1225-1227)Ctc>Ttc	p.L409F	RARB_ENST00000437042.2_Missense_Mutation_p.L290F|RARB_ENST00000458646.1_Missense_Mutation_p.L290F|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000330688.4_Missense_Mutation_p.L402F			P10826	RARB_HUMAN	retinoic acid receptor, beta	409	Ligand-binding.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AATGCCACCTCTCATTCAAGA	0.433																																						ENST00000330688.4																			0				breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28						c.(1204-1206)Ctc>Ttc		retinoic acid receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)						132.0	130.0	131.0					3																	25637964		2203	4300	6503	SO:0001583	missense	5915				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr3:25637964C>T	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.1225C>T	3.37:g.25637964C>T	ENSP00000385865:p.Leu409Phe					RARB_ENST00000404969.1_Missense_Mutation_p.L409F|RARB_ENST00000437042.2_Missense_Mutation_p.L290F|RARB_ENST00000458646.1_Missense_Mutation_p.L290F|RARB_ENST00000462272.1_3'UTR	p.L402F	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN			8	1625	+			409			Ligand-binding.		P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	ENST00000404969.1	37	c.1204C>T		.	.	.	.	.	.	.	.	.	.	C	20.5	3.997746	0.74818	.	.	ENSG00000077092	ENST00000404969;ENST00000437042;ENST00000330688;ENST00000458646	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.9	5.9	0.94986	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	T	0.78097	0.4230	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.76610	-0.2896	9	.	.	.	.	20.27	0.98469	0.0:1.0:0.0:0.0	.	409;402	P10826;F1D8S6	RARB_HUMAN;.	F	409;290;402;290	ENSP00000385865:L409F;ENSP00000398840:L290F;ENSP00000332296:L402F;ENSP00000391391:L290F	.	L	+	1	0	RARB	25612968	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.798000	0.85924	2.804000	0.96469	0.655000	0.94253	CTC		0.433	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152		284	370	0	0	0	1	0	284	370				
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:21730916G>T	ENST00000578713.1	+	1	222	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584755.1_Missense_Mutation_p.R73L					ubiquitin B pseudogene 4									p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552													.|||	27	0.00539137	0.0182	0.0029	5008	,	,		20752	0.0		0.0	False		,,,				2504	0.001					ENST00000584755.1																			24	Substitution - Missense(24)	p.R73L(24)	kidney(9)|urinary_tract(6)|endometrium(6)|prostate(3)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(217-219)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730916G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.218G>T	17.37:g.21730916G>T	ENSP00000464265:p.Arg73Leu					UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron	p.R73L							2	615	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.218G>T																																																																																					0.552	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			7	400	1	0	3.09899e-07	1	3.23585e-07	7	400				
ARSB	411	broad.mit.edu	37	5	78264932	78264932	+	Silent	SNP	G	G	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:78264932G>C	ENST00000264914.4	-	2	932	c.396C>G	c.(394-396)ctC>ctG	p.L132L	ARSB_ENST00000565165.1_Silent_p.L132L|ARSB_ENST00000396151.3_Silent_p.L132L	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	132					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		CTTCTTTTAGGAGCTGGGGCA	0.478																																					Melanoma(169;563 1968 25780 26156 52266)	ENST00000264914.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(394-396)ctC>ctG		arylsulfatase B							152.0	161.0	158.0					5																	78264932		2203	4300	6503	SO:0001819	synonymous_variant	411				lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	g.chr5:78264932G>C	M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"""Arylsulfatase family"""	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.396C>G	5.37:g.78264932G>C						ARSB_ENST00000565165.1_Silent_p.L132L|ARSB_ENST00000396151.3_Silent_p.L132L	p.L132L	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)	2	932	-		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)	132					B2RC20|Q8N322|Q9UDI9	Silent	SNP	ENST00000264914.4	37	c.396C>G	CCDS4043.1																																																																																				0.478	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	NM_000046		16	578	0	0	0	1	0	16	578				
SPDYE3	441272	broad.mit.edu	37	7	99913460	99913460	+	Silent	SNP	A	A	G	rs201349757		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:99913460A>G	ENST00000332397.6	+	7	1438	c.1254A>G	c.(1252-1254)tcA>tcG	p.S418S	SPDYE3_ENST00000437326.2_Silent_p.S41S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	418								p.S418S(11)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						TGAGGGTGTCAGACAAGGTAA	0.522																																						ENST00000332397.6																			11	Substitution - coding silent(11)	p.S418S(11)	endometrium(10)|prostate(1)	endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						c.(1252-1254)tcA>tcG		speedy/RINGO cell cycle regulator family member E3							253.0	273.0	266.0					7																	99913460		2091	3956	6047	SO:0001819	synonymous_variant	441272							g.chr7:99913460A>G	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1254A>G	7.37:g.99913460A>G						SPDYE3_ENST00000437326.2_Silent_p.S41S	p.S418S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN			7	1438	+			418					Q495Y9|Q6PHC4	Silent	SNP	ENST00000332397.6	37	c.1254A>G	CCDS47658.2																																																																																				0.522	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		9	1266	0	0	0	1	0	9	1266				
UGT1A3	54659	broad.mit.edu	37	2	234638369	234638369	+	Silent	SNP	A	A	G	rs563184062		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:234638369A>G	ENST00000482026.1	+	1	616	c.597A>G	c.(595-597)acA>acG	p.T199T	UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609767.1_Silent_p.T199T|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	199					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)	p.T199T(8)		breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	GATTACTAACAACCAATTCAG	0.423													A|||	1	0.000199681	0.0008	0.0	5008	,	,		22790	0.0		0.0	False		,,,				2504	0.0					ENST00000482026.1																			8	Substitution - coding silent(8)	p.T199T(8)	kidney(8)	breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46						c.(595-597)acA>acG									219.0	210.0	213.0					2																	234638369		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr2:234638369A>G	M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"""UDP glucuronosyltransferases"""	12535	other	complex locus constituent		606428	"""UDP glycosyltransferase 1 family, polypeptide A3"""			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.597A>G	2.37:g.234638369A>G						UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron	p.T199T	NM_019093.2	NP_061966.1				Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	1	616	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)						B8K287	Silent	SNP	ENST00000482026.1	37	c.597A>G	CCDS2509.1																																																																																				0.423	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1	NM_019093		7	1012	0	0	0	1	0	7	1012				
APC	324	broad.mit.edu	37	5	112162891	112162891	+	Nonsense_Mutation	SNP	C	C	T	rs137854580		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:112162891C>T	ENST00000457016.1	+	12	1875	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*	APC_ENST00000508376.2_Nonsense_Mutation_p.R499*|APC_ENST00000257430.4_Nonsense_Mutation_p.R499*|CTC-554D6.1_ENST00000520401.1_5'Flank			P25054	APC_HUMAN	adenomatous polyposis coli	499	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R499*(5)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TACACTAAGACGATATGCTGG	0.373		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		6	Substitution - Nonsense(5)|Unknown(1)	p.R499*(5)|p.?(1)	large_intestine(5)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261	GRCh37	CM930023	APC	M	rs137854580	c.(1495-1497)Cga>Tga		adenomatous polyposis coli							135.0	123.0	127.0					5																	112162891		2202	4300	6502	SO:0001587	stop_gained	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112162891C>T	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1495C>T	5.37:g.112162891C>T	ENSP00000413133:p.Arg499*	TSP Lung(16;0.13)				APC_ENST00000508376.2_Nonsense_Mutation_p.R499*|APC_ENST00000257430.4_Nonsense_Mutation_p.R499*	p.R499*			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	12	1875	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	499			Leu-rich.		D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	c.1495C>T	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	40	8.025077	0.98616	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.85	4.98	0.66077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3767	14.9298	0.70906	0.2732:0.7267:0.0:0.0	.	.	.	.	X	499;481;499;499;499	.	ENSP00000257430:R499X	R	+	1	2	APC	112190790	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.513000	0.35823	1.461000	0.47929	0.655000	0.94253	CGA		0.373	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		163	33	0	0	0	1	0	163	33				
APH1A	51107	broad.mit.edu	37	1	150240457	150240457	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:150240457G>A	ENST00000369109.3	-	2	372	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	APH1A_ENST00000360244.4_Missense_Mutation_p.R62W|APH1A_ENST00000461320.1_Intron|APH1A_ENST00000414276.2_Intron|C1orf54_ENST00000369102.1_5'Flank	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	62					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCATCTGACCGGTCGGTCACA	0.552																																						ENST00000360244.4																			0				breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9						c.(184-186)Cgg>Tgg		APH1A gamma secretase subunit							61.0	68.0	66.0					1																	150240457		1972	4143	6115	SO:0001583	missense	51107				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding	g.chr1:150240457G>A	AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"""anterior pharynx defective 1 homolog A (C. elegans)"""			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.184C>T	1.37:g.150240457G>A	ENSP00000358105:p.Arg62Trp					APH1A_ENST00000414276.2_Intron|APH1A_ENST00000369109.3_Missense_Mutation_p.R62W|APH1A_ENST00000461320.1_Intron	p.R62W	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	676	-	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		62					B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Missense_Mutation	SNP	ENST00000369109.3	37	c.184C>T	CCDS41390.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895172	0.72639	.	.	ENSG00000117362	ENST00000369109;ENST00000360244	T;T	0.44881	0.91;0.91	5.0	4.08	0.47627	.	0.552403	0.18267	N	0.146425	T	0.21921	0.0528	N	0.08118	0	0.80722	D	1	P;P;P	0.48911	0.899;0.917;0.917	P;P;P	0.53185	0.526;0.657;0.72	T	0.15206	-1.0445	10	0.72032	D	0.01	-3.6332	10.4948	0.44770	0.0:0.0:0.6471:0.3528	.	62;62;62	Q96BI3-2;Q5TB22;Q96BI3	.;.;APH1A_HUMAN	W	62	ENSP00000358105:R62W;ENSP00000353380:R62W	ENSP00000353380:R62W	R	-	1	2	APH1A	148507081	0.990000	0.36364	1.000000	0.80357	0.998000	0.95712	2.104000	0.41815	1.307000	0.44944	0.591000	0.81541	CGG		0.552	APH1A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000035048.1	NM_016022		6	733	0	0	0	1	0	6	733				
MUC21	394263	broad.mit.edu	37	6	30955025	30955025	+	Missense_Mutation	SNP	G	G	A	rs55763085		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:30955025G>A	ENST00000376296.3	+	2	1314	c.1073G>A	c.(1072-1074)aGc>aAc	p.S358N	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	358	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S358N(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGTGGGGCCAGCACAGCCACC	0.642																																						ENST00000376296.3																			1	Substitution - Missense(1)	p.S358N(1)	lung(1)	NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1072-1074)aGc>aAc		mucin 21, cell surface associated							135.0	134.0	135.0					6																	30955025		2202	4298	6500	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30955025G>A	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.1073G>A	6.37:g.30955025G>A	ENSP00000365473:p.Ser358Asn					MUC21_ENST00000486149.2_5'UTR	p.S358N	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN			2	1314	+			358			28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.1073G>A	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	g	11.44	1.638585	0.29157	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.02863	4.13	4.44	1.37	0.22104	.	.	.	.	.	T	0.00724	0.0024	N	0.17082	0.46	0.09310	N	1	B	0.27498	0.18	B	0.29176	0.099	T	0.47509	-0.9112	9	0.36615	T	0.2	-6.2264	7.3385	0.26623	0.0985:0.4534:0.448:0.0	rs55763085	358	Q5SSG8	MUC21_HUMAN	N	208;358	ENSP00000365473:S358N	ENSP00000365473:S358N	S	+	2	0	MUC21	31063004	0.000000	0.05858	0.067000	0.19924	0.130000	0.20726	-0.612000	0.05616	0.590000	0.29694	-0.192000	0.12808	AGC		0.642	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		11	1574	0	0	0	1	0	11	1574				
CARD6	84674	broad.mit.edu	37	5	40852928	40852928	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:40852928G>A	ENST00000254691.5	+	3	1693	c.1494G>A	c.(1492-1494)cgG>cgA	p.R498R	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	498					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TGCTTCCCCGGCAAATCTCTG	0.438																																						ENST00000254691.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(1492-1494)cgG>cgA		caspase recruitment domain family, member 6							69.0	70.0	70.0					5																	40852928		2203	4300	6503	SO:0001819	synonymous_variant	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40852928G>A	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1494G>A	5.37:g.40852928G>A						CARD6_ENST00000381677.3_Intron	p.R498R	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN			3	1693	+			498					Q52LR2	Silent	SNP	ENST00000254691.5	37	c.1494G>A	CCDS3935.1																																																																																				0.438	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			6	877	0	0	0	1	0	6	877				
AKAP11	11215	broad.mit.edu	37	13	42876661	42876661	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:42876661C>T	ENST00000025301.2	+	8	3954	c.3779C>T	c.(3778-3780)gCg>gTg	p.A1260V		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1260					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TGCAATTTTGCGGGTGATCTG	0.368																																						ENST00000025301.2																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56						c.(3778-3780)gCg>gTg		A kinase (PRKA) anchor protein 11							68.0	71.0	70.0					13																	42876661		2203	4300	6503	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42876661C>T	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.3779C>T	13.37:g.42876661C>T	ENSP00000025301:p.Ala1260Val						p.A1260V	NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	3954	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	1260					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.3779C>T	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523180	0.85600	.	.	ENSG00000023516	ENST00000025301	T	0.60040	0.22	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000001	T	0.76828	0.4042	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77469	-0.2576	10	0.59425	D	0.04	.	19.6299	0.95698	0.0:1.0:0.0:0.0	.	1260	Q9UKA4	AKA11_HUMAN	V	1260	ENSP00000025301:A1260V	ENSP00000025301:A1260V	A	+	2	0	AKAP11	41774661	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.456000	0.80751	2.639000	0.89480	0.655000	0.94253	GCG		0.368	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		6	864	0	0	0	1	0	6	864				
BMS1P20	96610	broad.mit.edu	37	22	22661478	22661478	+	RNA	SNP	T	T	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr22:22661478T>G	ENST00000426066.1	+	0	368					NR_027293.1				BMS1 pseudogene 20																		CAGATGCGTCTGAAGAAACAT	0.488																																						ENST00000426066.1																			0																																																			0							g.chr22:22661478T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661478T>G								NR_027293.1						0	368	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.488	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			7	288	0	0	0	1	0	7	288				
UBB	7314	broad.mit.edu	37	17	16285638	16285638	+	Silent	SNP	G	G	A	rs534325931		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:16285638G>A	ENST00000395837.1	+	2	598	c.417G>A	c.(415-417)aaG>aaA	p.K139K	UBB_ENST00000302182.3_Silent_p.K139K|UBB_ENST00000395839.1_Silent_p.K139K|UBB_ENST00000578649.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	139	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		ACATCCAGAAGGAGTCGACCC	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		24534	0.001		0.0	False		,,,				2504	0.0				Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(415-417)aaG>aaA		ubiquitin B																																				SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285638G>A		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.417G>A	17.37:g.16285638G>A						UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|UBB_ENST00000395839.1_Silent_p.K139K|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Silent_p.K139K	p.K139K	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	809	+			139			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.417G>A	CCDS11177.1																																																																																				0.567	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		5	561	0	0	0	1	0	5	561				
LRCH1	23143	broad.mit.edu	37	13	47315978	47315978	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:47315978G>A	ENST00000389798.3	+	19	2379	c.2182G>A	c.(2182-2184)Gca>Aca	p.A728T	LRCH1_ENST00000389797.3_Missense_Mutation_p.A763T|LRCH1_ENST00000311191.6_Intron	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	728										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TGCTCTGTCCGCATAATGTCT	0.502																																						ENST00000389798.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(2182-2184)Gca>Aca		leucine-rich repeats and calponin homology (CH) domain containing 1							181.0	181.0	181.0					13																	47315978		2203	4300	6503	SO:0001583	missense	23143							g.chr13:47315978G>A	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.2182G>A	13.37:g.47315978G>A	ENSP00000374448:p.Ala728Thr					LRCH1_ENST00000389797.3_Missense_Mutation_p.A763T|LRCH1_ENST00000311191.6_Intron	p.A728T	NM_015116.2	NP_055931.1	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	19	2379	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	728					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	c.2182G>A	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716906	0.68844	.	.	ENSG00000136141	ENST00000389798;ENST00000389797	T;T	0.56611	0.52;0.45	5.62	0.916	0.19373	.	0.366355	0.23049	N	0.052519	T	0.27967	0.0689	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.18555	-1.0333	10	0.87932	D	0	-7.3087	6.6356	0.22881	0.2679:0.1182:0.6139:0.0	.	763;728	F8W6F0;Q9Y2L9	.;LRCH1_HUMAN	T	728;763	ENSP00000374448:A728T;ENSP00000374447:A763T	ENSP00000374447:A763T	A	+	1	0	LRCH1	46213979	0.006000	0.16342	0.000000	0.03702	0.900000	0.52787	0.371000	0.20450	-0.072000	0.12864	-0.145000	0.13849	GCA		0.502	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		11	1633	0	0	0	1	0	11	1633				
FAM135A	57579	broad.mit.edu	37	6	71246002	71246002	+	Silent	SNP	A	A	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:71246002A>T	ENST00000418814.2	+	19	4619	c.4005A>T	c.(4003-4005)tcA>tcT	p.S1335S	FAM135A_ENST00000457062.2_Silent_p.S1122S|FAM135A_ENST00000505769.1_Silent_p.S915S|FAM135A_ENST00000370479.3_Silent_p.S1122S|FAM135A_ENST00000361499.3_Silent_p.S1139S|FAM135A_ENST00000505868.1_Silent_p.S1335S	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1335										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TAATTCGTTCAGTGCTTACAA	0.348																																						ENST00000418814.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(4003-4005)tcA>tcT		family with sequence similarity 135, member A							136.0	138.0	137.0					6																	71246002		2202	4299	6501	SO:0001819	synonymous_variant	57579							g.chr6:71246002A>T	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.4005A>T	6.37:g.71246002A>T						FAM135A_ENST00000505769.1_Silent_p.S915S|FAM135A_ENST00000505868.1_Silent_p.S1335S|FAM135A_ENST00000370479.3_Silent_p.S1122S|FAM135A_ENST00000457062.2_Silent_p.S1122S|FAM135A_ENST00000361499.3_Silent_p.S1139S	p.S1335S	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN			19	4619	+			1335					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Silent	SNP	ENST00000418814.2	37	c.4005A>T	CCDS55028.1																																																																																				0.348	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		157	224	0	0	0	1	0	157	224				
NRXN2	9379	broad.mit.edu	37	11	64428311	64428311	+	Missense_Mutation	SNP	C	C	T	rs373695786		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:64428311C>T	ENST00000377551.1	-	9	2310	c.2099G>A	c.(2098-2100)cGc>cAc	p.R700H	NRXN2_ENST00000496291.1_5'UTR|NRXN2_ENST00000377559.3_Missense_Mutation_p.R669H|NRXN2_ENST00000265459.6_Missense_Mutation_p.R700H|NRXN2_ENST00000409571.1_Missense_Mutation_p.R693H|AP001092.4_ENST00000433606.1_RNA			Q9P2S2	NRX2A_HUMAN	neurexin 2	700	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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						GCCCCCATTGCGACAGGGGGC	0.647																																						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.(2098-2100)cGc>cAc		neurexin 2		C	HIS/ARG,HIS/ARG	0,4402		0,0,2201	72.0	70.0	71.0		2099,2006	4.4	1.0	11		71	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense	NRXN2	NM_015080.3,NM_138732.2	29,29	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	700/1713,669/1643	64428311	1,12995	2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64428311C>T		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.2099G>A	11.37:g.64428311C>T	ENSP00000366774:p.Arg700His					NRXN2_ENST00000409571.1_Missense_Mutation_p.R693H|NRXN2_ENST00000496291.1_5'UTR|NRXN2_ENST00000377559.3_Missense_Mutation_p.R669H|NRXN2_ENST00000377551.1_Missense_Mutation_p.R700H	p.R700H	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN			10	2560	-			700			EGF-like 2.		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.2099G>A	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141704	0.37825	0.0	1.16E-4	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	4.38	4.38	0.52667	Concanavalin A-like lectin/glucanase (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.148030	0.27636	U	0.018492	T	0.50257	0.1605	N	0.13003	0.285	0.35368	D	0.788822	B;B;D	0.61080	0.046;0.071;0.989	B;B;P	0.47162	0.013;0.018;0.54	T	0.62784	-0.6781	10	0.40728	T	0.16	.	14.4926	0.67663	0.0:1.0:0.0:0.0	.	669;700;446	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	H	700;669;700;669;693	ENSP00000366774:R700H;ENSP00000366782:R669H;ENSP00000265459:R700H;ENSP00000386416:R693H	ENSP00000265459:R700H	R	-	2	0	NRXN2	64184887	0.000000	0.05858	0.998000	0.56505	0.811000	0.45836	0.031000	0.13710	2.266000	0.75297	0.555000	0.69702	CGC		0.647	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		6	292	0	0	0	1	0	6	292				
C6orf118	168090	broad.mit.edu	37	6	165715668	165715668	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:165715668A>G	ENST00000230301.8	-	2	163	c.143T>C	c.(142-144)cTt>cCt	p.L48P	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	48										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)		GTCTTTCTGAAGCCGATTCAG	0.552																																						ENST00000230301.8																			0				breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(142-144)cTt>cCt		chromosome 6 open reading frame 118							85.0	93.0	90.0					6																	165715668		2203	4300	6503	SO:0001583	missense	168090							g.chr6:165715668A>G		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.143T>C	6.37:g.165715668A>G	ENSP00000230301:p.Leu48Pro					C6orf118_ENST00000543069.1_5'UTR	p.L48P	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	163	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	48					Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	c.143T>C	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.050425	0.55218	.	.	ENSG00000112539	ENST00000230301	T	0.17691	2.26	5.31	5.31	0.75309	.	0.707524	0.13218	N	0.404618	T	0.28200	0.0696	L	0.59436	1.845	0.58432	D	0.999999	D	0.89917	1.0	D	0.72338	0.977	T	0.01657	-1.1302	10	0.87932	D	0	.	12.826	0.57721	1.0:0.0:0.0:0.0	.	48	Q5T5N4	CF118_HUMAN	P	48	ENSP00000230301:L48P	ENSP00000230301:L48P	L	-	2	0	C6orf118	165635658	0.188000	0.23250	0.000000	0.03702	0.002000	0.02628	4.774000	0.62339	2.012000	0.59069	0.533000	0.62120	CTT		0.552	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		258	314	0	0	0	1	0	258	314				
ECM1	1893	broad.mit.edu	37	1	150484272	150484272	+	Missense_Mutation	SNP	C	C	T	rs199951855		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:150484272C>T	ENST00000369047.4	+	7	1173	c.1048C>T	c.(1048-1050)Cgc>Tgc	p.R350C	ECM1_ENST00000346569.6_Intron|ECM1_ENST00000369049.4_Missense_Mutation_p.R377C|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	350	2 X approximate repeats.				angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCGCTGCTGCCGCCAGGGGAA	0.622																																					Melanoma(156;1696 2560 11093 19685)	ENST00000369047.4																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22						c.(1048-1050)Cgc>Tgc		extracellular matrix protein 1							45.0	45.0	45.0					1																	150484272		2203	4300	6503	SO:0001583	missense	1893				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity	g.chr1:150484272C>T	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.1048C>T	1.37:g.150484272C>T	ENSP00000358043:p.Arg350Cys					ECM1_ENST00000369049.4_Missense_Mutation_p.R377C|ECM1_ENST00000346569.6_Intron|ECM1_ENST00000470432.1_3'UTR	p.R350C	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		7	1173	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		350			2 X approximate repeats.		A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	ENST00000369047.4	37	c.1048C>T	CCDS953.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856028	0.71834	.	.	ENSG00000143369	ENST00000369049;ENST00000369047	T;T	0.80214	-1.35;-1.35	4.19	4.19	0.49359	.	0.234553	0.32640	N	0.005821	D	0.83505	0.5269	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	P;D;D	0.70716	0.862;0.97;0.91	D	0.85406	0.1134	10	0.87932	D	0	-15.5817	12.1957	0.54296	0.0:1.0:0.0:0.0	.	377;350;350	Q16610-4;C8CHS3;Q16610	.;.;ECM1_HUMAN	C	377;350	ENSP00000358045:R377C;ENSP00000358043:R350C	ENSP00000358043:R350C	R	+	1	0	ECM1	148750896	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	2.256000	0.43231	2.331000	0.79229	0.555000	0.69702	CGC		0.622	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425		58	451	0	0	0	1	0	58	451				
NSUN2	54888	broad.mit.edu	37	5	6605421	6605421	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:6605421G>A	ENST00000264670.6	-	15	2013	c.1702C>T	c.(1702-1704)Cgg>Tgg	p.R568W	NSUN2_ENST00000506139.1_Missense_Mutation_p.R533W|NSUN2_ENST00000539938.1_Missense_Mutation_p.R332W	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	568					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						AGCACATTCCGCAACTCCTTA	0.478																																						ENST00000264670.6																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(1702-1704)Cgg>Tgg		NOP2/Sun RNA methyltransferase family, member 2							198.0	194.0	195.0					5																	6605421		2203	4300	6503	SO:0001583	missense	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6605421G>A	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.1702C>T	5.37:g.6605421G>A	ENSP00000264670:p.Arg568Trp					NSUN2_ENST00000539938.1_Missense_Mutation_p.R332W|NSUN2_ENST00000506139.1_Missense_Mutation_p.R533W	p.R568W	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN			15	2013	-			568					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	37	c.1702C>T	CCDS3869.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186816	0.57909	.	.	ENSG00000037474	ENST00000264670;ENST00000539938;ENST00000506139	T;T;T	0.65549	-0.16;-0.16;-0.16	5.36	-4.21	0.03812	.	0.047192	0.85682	D	0.000000	T	0.80396	0.4615	M	0.88377	2.95	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.85130	0.977;0.997	D	0.84366	0.0541	10	0.87932	D	0	-35.1638	19.9151	0.97057	0.0:0.0:0.3569:0.6431	.	533;568	B4DQW2;Q08J23	.;NSUN2_HUMAN	W	568;332;533	ENSP00000264670:R568W;ENSP00000444338:R332W;ENSP00000420957:R533W	ENSP00000264670:R568W	R	-	1	2	NSUN2	6658421	0.723000	0.28027	0.073000	0.20177	0.463000	0.32649	0.158000	0.16422	-0.617000	0.05664	-0.311000	0.09066	CGG		0.478	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		7	1338	0	0	0	1	0	7	1338				
ILF3	3609	broad.mit.edu	37	19	10799894	10799894	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:10799894G>A	ENST00000590261.1	+	19	2591	c.2591G>A	c.(2590-2592)gGc>gAc	p.G864D	ILF3_ENST00000588657.1_Missense_Mutation_p.G868D|ILF3_ENST00000318511.3_Missense_Mutation_p.G864D|ILF3_ENST00000449870.1_Missense_Mutation_p.G868D|ILF3_ENST00000586544.1_3'UTR			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	864	Interaction with PRMT1.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G864D(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CCGGGGTCCGGCCAGAACTAC	0.602																																						ENST00000449870.1																			1	Substitution - Missense(1)	p.G864D(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(2602-2604)gGc>gAc		interleukin enhancer binding factor 3, 90kDa							123.0	131.0	128.0					19																	10799894		2203	4300	6503	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10799894G>A	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.2591G>A	19.37:g.10799894G>A	ENSP00000468156:p.Gly864Asp					ILF3_ENST00000590261.1_Missense_Mutation_p.G864D|ILF3_ENST00000318511.3_Missense_Mutation_p.G864D|ILF3_ENST00000588657.1_Missense_Mutation_p.G868D|ILF3_ENST00000586544.1_3'UTR	p.G868D	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		20	2920	+			864			Interaction with PRMT1.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.2603G>A	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237512	0.58886	.	.	ENSG00000129351	ENST00000449870;ENST00000318511	T;T	0.14022	2.54;2.54	5.32	5.32	0.75619	.	0.675832	0.15183	N	0.276001	T	0.09818	0.0241	N	0.12182	0.205	0.80722	D	1	B;B	0.27416	0.178;0.111	B;B	0.30251	0.113;0.053	T	0.17531	-1.0366	10	0.66056	D	0.02	.	11.9264	0.52823	0.0826:0.0:0.9174:0.0	.	868;864	G5E9M5;Q12906	.;ILF3_HUMAN	D	868;864	ENSP00000404121:G868D;ENSP00000315205:G864D	ENSP00000315205:G864D	G	+	2	0	ILF3	10660894	1.000000	0.71417	0.907000	0.35723	0.903000	0.53119	3.118000	0.50414	2.767000	0.95098	0.655000	0.94253	GGC		0.602	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			7	1196	0	0	0	1	0	7	1196				
TMX2	51075	broad.mit.edu	37	11	57506679	57506679	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:57506679C>T	ENST00000278422.4	+	7	703	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W	RP11-691N7.6_ENST00000531074.1_5'Flank|C11orf31_ENST00000388857.4_5'Flank|TMX2-CTNND1_ENST00000528395.1_Intron|C11orf31_ENST00000534355.1_5'Flank|TMX2_ENST00000378312.4_Missense_Mutation_p.R193W	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	231	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						GGAGGCAATGCGGCGGCCACA	0.547																																						ENST00000278422.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						c.(691-693)Cgg>Tgg		thioredoxin-related transmembrane protein 2							125.0	114.0	118.0					11																	57506679		2201	4296	6497	SO:0001583	missense	51075				cell redox homeostasis	integral to membrane		g.chr11:57506679C>T	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"""Protein disulfide isomerases"""	30739	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 12"""		"""thioredoxin domain containing 14"""	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.691C>T	11.37:g.57506679C>T	ENSP00000278422:p.Arg231Trp					TMX2_ENST00000378312.4_Missense_Mutation_p.R193W|TMX2-CTNND1_ENST00000528395.1_Intron	p.R231W	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN			7	703	+			231			Thioredoxin.		B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Missense_Mutation	SNP	ENST00000278422.4	37	c.691C>T	CCDS7967.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.802031	0.70682	.	.	ENSG00000213593	ENST00000378312;ENST00000278422	T;T	0.28666	1.6;1.6	5.49	4.55	0.56014	Thioredoxin-like fold (3);	0.067156	0.56097	U	0.000038	T	0.62245	0.2412	M	0.91354	3.2	0.80722	D	1	P;D	0.89917	0.927;1.0	P;D	0.97110	0.504;1.0	T	0.70288	-0.4913	9	.	.	.	-13.4074	13.1262	0.59356	0.2872:0.7128:0.0:0.0	.	193;231	Q9Y320-2;Q9Y320	.;TMX2_HUMAN	W	193;231	ENSP00000367562:R193W;ENSP00000278422:R231W	.	R	+	1	2	TMX2	57263255	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.049000	0.49869	2.583000	0.87209	0.561000	0.74099	CGG		0.547	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		5	578	0	0	0	1	0	5	578				
KIAA1217	56243	broad.mit.edu	37	10	24816938	24816938	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:24816938T>C	ENST00000376454.3	+	14	3002	c.2972T>C	c.(2971-2973)cTa>cCa	p.L991P	KIAA1217_ENST00000376452.3_Missense_Mutation_p.L956P|KIAA1217_ENST00000376462.1_Missense_Mutation_p.L911P|KIAA1217_ENST00000458595.1_Missense_Mutation_p.L956P|KIAA1217_ENST00000307544.6_Missense_Mutation_p.L674P|KIAA1217_ENST00000396445.1_Missense_Mutation_p.L674P|KIAA1217_ENST00000396446.1_Missense_Mutation_p.L674P|KIAA1217_ENST00000376451.2_Missense_Mutation_p.L674P|KIAA1217_ENST00000430453.2_3'UTR	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	991					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GAGAAGCTCCTAGAAGAAGCT	0.473																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(2020-2022)cTa>cCa		KIAA1217							119.0	121.0	120.0					10																	24816938		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24816938T>C	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.2972T>C	10.37:g.24816938T>C	ENSP00000365637:p.Leu991Pro					KIAA1217_ENST00000430453.2_3'UTR|KIAA1217_ENST00000396445.1_Missense_Mutation_p.L674P|KIAA1217_ENST00000396446.1_Missense_Mutation_p.L674P|KIAA1217_ENST00000458595.1_Missense_Mutation_p.L956P|KIAA1217_ENST00000376462.1_Missense_Mutation_p.L911P|KIAA1217_ENST00000307544.6_Missense_Mutation_p.L674P|KIAA1217_ENST00000376454.3_Missense_Mutation_p.L991P|KIAA1217_ENST00000376452.3_Missense_Mutation_p.L956P	p.L674P			Q5T5P2	SKT_HUMAN			9	2281	+			991					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.2021T>C	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.231190	0.79688	.	.	ENSG00000120549	ENST00000376462;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11;0.11;0.11	6.11	4.98	0.66077	.	0.075760	0.53938	N	0.000052	T	0.74574	0.3734	M	0.78456	2.415	0.80722	D	1	D;D;D;D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.859	D;D;D;D;D;D;D;B	0.97110	0.999;0.999;0.999;1.0;1.0;1.0;0.999;0.435	T	0.75309	-0.3363	10	0.46703	T	0.11	.	12.0016	0.53235	0.0:0.0668:0.0:0.9332	.	956;956;674;674;674;674;991;991	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	P	911;956;674;991;956;674;674;674;674;674	ENSP00000365645:L911P;ENSP00000392625:L956P;ENSP00000365637:L991P;ENSP00000365635:L956P;ENSP00000302343:L674P;ENSP00000379722:L674P;ENSP00000365634:L674P;ENSP00000379723:L674P	ENSP00000302343:L674P	L	+	2	0	KIAA1217	24856944	0.998000	0.40836	0.954000	0.39281	0.986000	0.74619	7.670000	0.83925	1.142000	0.42291	0.533000	0.62120	CTA		0.473	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		29	824	0	0	0	1	0	29	824				
CYP27B1	1594	broad.mit.edu	37	12	58158695	58158695	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:58158695C>G	ENST00000228606.4	-	5	1014	c.805G>C	c.(805-807)Gag>Cag	p.E269Q	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	269					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	TCTCGCCGCTCCACGTGCCTC	0.607																																						ENST00000228606.4																			0				central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15						c.(805-807)Gag>Cag		cytochrome P450, family 27, subfamily B, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)						74.0	71.0	72.0					12																	58158695		2203	4300	6503	SO:0001583	missense	1594				bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	g.chr12:58158695C>G	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.805G>C	12.37:g.58158695C>G	ENSP00000228606:p.Glu269Gln						p.E269Q	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		5	1014	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		269					B2RC61|Q548T3	Missense_Mutation	SNP	ENST00000228606.4	37	c.805G>C	CCDS8954.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.335080	0.60853	.	.	ENSG00000111012	ENST00000228606;ENST00000546567	T;T	0.70399	-0.48;-0.48	4.65	3.76	0.43208	.	0.052937	0.64402	D	0.000001	T	0.56819	0.2011	N	0.04959	-0.14	0.42532	D	0.993044	B	0.29188	0.236	P	0.45276	0.475	T	0.51116	-0.8746	10	0.17369	T	0.5	.	10.0556	0.42244	0.0:0.9043:0.0:0.0957	.	269	O15528	CP27B_HUMAN	Q	269;34	ENSP00000228606:E269Q;ENSP00000449472:E34Q	ENSP00000228606:E269Q	E	-	1	0	CYP27B1	56444962	1.000000	0.71417	0.993000	0.49108	0.494000	0.33585	6.260000	0.72502	1.188000	0.43014	0.561000	0.74099	GAG		0.607	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		223	43	0	0	0	1	0	223	43				
AQP7	364	broad.mit.edu	37	9	33385585	33385585	+	Missense_Mutation	SNP	C	C	A	rs373454335		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:33385585C>A	ENST00000541274.1	-	5	859	c.410G>T	c.(409-411)gGg>gTg	p.G137V	AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CACCCCCCACCCCTCAACACA	0.602																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(409-411)gGg>gTg		aquaporin 7																																				SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385585C>A	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.410G>T	9.37:g.33385585C>A	ENSP00000438860:p.Gly137Val					AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR	p.G137V			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	859	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.410G>T		.	.	.	.	.	.	.	.	.	.	c	6.340	0.430890	0.12045	.	.	ENSG00000165269	ENST00000541274	T	0.58940	0.3	4.16	-1.14	0.09741	.	.	.	.	.	T	0.40145	0.1105	.	.	.	0.09310	N	1	B	0.34372	0.451	B	0.31686	0.134	T	0.32929	-0.9888	8	0.87932	D	0	.	3.9387	0.09316	0.0:0.3773:0.1846:0.4381	.	137	B7Z7F6	.	V	137	ENSP00000438860:G137V	ENSP00000438860:G137V	G	-	2	0	AQP7	33375585	0.004000	0.15560	0.024000	0.17045	0.041000	0.13682	0.014000	0.13333	-0.108000	0.12066	-0.270000	0.10280	GGG		0.602	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		6	305	1	0	6.40141e-05	1	6.62146e-05	6	305				
ASIC3	9311	broad.mit.edu	37	7	150746330	150746330	+	Missense_Mutation	SNP	G	G	A	rs370369500		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:150746330G>A	ENST00000349064.5	+	1	556	c.358G>A	c.(358-360)Gca>Aca	p.A120T	ASIC3_ENST00000297512.8_Missense_Mutation_p.A120T|ASIC3_ENST00000357922.4_Missense_Mutation_p.A120T	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	120					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										CCTGGATCCCGCAGAGCACGC	0.701																																						ENST00000357922.4																			0											c.(358-360)Gca>Aca		acid-sensing (proton-gated) ion channel 3		G	THR/ALA,THR/ALA,THR/ALA	0,4404		0,0,2202	46.0	45.0	45.0		358,358,358	0.1	0.0	7		45	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense,missense	ACCN3	NM_004769.2,NM_020321.2,NM_020322.2	58,58,58	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	120/532,120/550,120/544	150746330	1,12999	2202	4298	6500	SO:0001583	missense	9311				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity	g.chr7:150746330G>A	AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.358G>A	7.37:g.150746330G>A	ENSP00000344838:p.Ala120Thr					ASIC3_ENST00000349064.5_Missense_Mutation_p.A120T|ASIC3_ENST00000297512.8_Missense_Mutation_p.A120T	p.A120T	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN			1	952	+			120					B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	ENST00000349064.5	37	c.358G>A	CCDS5916.1	.	.	.	.	.	.	.	.	.	.	G	3.935	-0.015398	0.07681	0.0	1.16E-4	ENSG00000213199	ENST00000357922;ENST00000349064;ENST00000297512	T;T;T	0.64085	-0.08;-0.08;-0.08	5.2	0.107	0.14544	.	0.246910	0.20236	U	0.096388	T	0.39118	0.1066	L	0.34521	1.04	0.09310	N	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.10450	0.005;0.001;0.003	T	0.10064	-1.0646	10	0.13853	T	0.58	-5.1697	1.9702	0.03404	0.3099:0.1254:0.4362:0.1285	.	120;120;120	Q9UHC3-2;Q9UHC3-3;Q9UHC3	.;.;ACCN3_HUMAN	T	120	ENSP00000350600:A120T;ENSP00000344838:A120T;ENSP00000297512:A120T	ENSP00000297512:A120T	A	+	1	0	ACCN3	150377263	0.000000	0.05858	0.002000	0.10522	0.057000	0.15508	-0.269000	0.08596	0.032000	0.15435	-0.424000	0.05967	GCA		0.701	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769		5	301	0	0	0	1	0	5	301				
DPEP3	64180	broad.mit.edu	37	16	68014188	68014188	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:68014188G>A	ENST00000268793.4	-	1	544	c.171C>T	c.(169-171)ccC>ccT	p.P57P	DPEP3_ENST00000574342.1_5'UTR	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	32					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CGCGGGTTACGGGCTGCCgca	0.731																																						ENST00000268793.4																			0				breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20						c.(169-171)ccC>ccT		dipeptidase 3							4.0	7.0	6.0					16																	68014188		2014	3969	5983	SO:0001819	synonymous_variant	64180				meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68014188G>A	AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.171C>T	16.37:g.68014188G>A						DPEP3_ENST00000574342.1_5'UTR	p.P57P	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)	1	544	-		Ovarian(137;0.192)	32					B3KQ48|Q6PEZ5|Q6UXE4	Silent	SNP	ENST00000268793.4	37	c.171C>T	CCDS10856.1																																																																																				0.731	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	NM_022357		7	51	0	0	0	1	0	7	51				
RXFP3	51289	broad.mit.edu	37	5	33936896	33936896	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:33936896C>T	ENST00000330120.3	+	1	406	c.51C>T	c.(49-51)ggC>ggT	p.G17G		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	17					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						AGGCAGCAGGCGGGGACAAGC	0.582																																						ENST00000330120.3																			0				endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						c.(49-51)ggC>ggT		relaxin/insulin-like family peptide receptor 3							72.0	77.0	75.0					5																	33936896		2203	4300	6503	SO:0001819	synonymous_variant	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33936896C>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.51C>T	5.37:g.33936896C>T							p.G17G	NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN			1	406	+			17					Q14DA5	Silent	SNP	ENST00000330120.3	37	c.51C>T	CCDS3900.1																																																																																				0.582	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		62	865	0	0	0	1	0	62	865				
CROCCP2	84809	broad.mit.edu	37	1	16953827	16953828	+	lincRNA	INS	-	-	C	rs57007114|rs397767732		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	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	144						8	144	---	---	---	---
PTP4A2	8073	broad.mit.edu	37	1	32381581	32381582	+	In_Frame_Ins	INS	-	-	TAA			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:32381581_32381582insTAA	ENST00000602725.1	-	2	520_521	c.103_104insTTA	c.(103-105)aag>aTTAag	p.34_35insI	RP11-84A19.4_ENST00000602889.1_lincRNA|PTP4A2_ENST00000344035.6_In_Frame_Ins_p.34_35insI|PTP4A2_ENST00000457805.2_Intron|PTP4A2_ENST00000470404.1_In_Frame_Ins_p.34_35insI|PTP4A2_ENST00000356536.3_In_Frame_Ins_p.34_35insI			Q12974	TP4A2_HUMAN	protein tyrosine phosphatase type IVA, member 2	34					peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)				TCCATACTTCTTAAGTTCCttt	0.361																																						ENST00000344035.6																			0				kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						c.(103-105)gaa>TTAgaa		protein tyrosine phosphatase type IVA, member 2																																				SO:0001652	inframe_insertion	8073					early endosome|plasma membrane	prenylated protein tyrosine phosphatase activity|protein binding|protein tyrosine/serine/threonine phosphatase activity	g.chr1:32381581_32381582insTAA	L48723	CCDS348.1, CCDS53292.1, CCDS59193.1	1p35	2011-06-09			ENSG00000184007	ENSG00000184007		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9635	protein-coding gene	gene with protein product		601584		PTP4A		8661118, 9514946	Standard	NM_080391		Approved	HU-PP-1, PTPCAAX2, OV-1, ptp-IV1a, PRL-2	uc001bty.2	Q12974	OTTHUMG00000003801	ENST00000602725.1:c.101_103dupTTA	1.37:g.32381582_32381584dupTAA	ENSP00000473259:p.Leu34_Lys35insIle					PTP4A2_ENST00000602725.1_In_Frame_Ins_p.34_35insL|PTP4A2_ENST00000356536.3_In_Frame_Ins_p.34_35insL|RP11-84A19.4_ENST00000602889.1_lincRNA|PTP4A2_ENST00000470404.1_In_Frame_Ins_p.34_35insL|PTP4A2_ENST00000457805.2_Intron	p.34_35insL	NM_080391.3	NP_536316.1	Q12974	TP4A2_HUMAN			3	1096_1097	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	34					A8K9I8|B4DM39|D3DPP0|E9PGJ6|O00649|Q15197|Q15259|Q15260|Q15261|R4GN50	In_Frame_Ins	INS	ENST00000602725.1	37	c.103_104insTTA	CCDS348.1																																																																																				0.361	PTP4A2-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468092.1	NM_080391		59	33						59	33	---	---	---	---
B4GALT2	8704	broad.mit.edu	37	1	44447007	44447009	+	In_Frame_Del	DEL	AGC	AGC	-	rs149892509		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:44447007_44447009delAGC	ENST00000356836.6	+	2	965_967	c.175_177delAGC	c.(175-177)agcdel	p.S65del	B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.A14del|B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	65					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CCCAGCTGCTagcagcagcagca	0.685																																						ENST00000356836.6																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(175-177)del		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	N-Acetyl-D-glucosamine(DB00141)		,,	4,48,4198		0,0,4,5,38,2078					,,		1.0		dbSNP_130	46	6,104,8118		1,0,4,11,82,4016	no	codingComplex,codingComplex,codingComplex	B4GALT2	NM_030587.2,NM_003780.4,NM_001005417.2	,,	1,0,8,16,120,6094	A1A1,A1A2,A1R,A2A2,A2R,RR		1.3369,1.2235,1.2983	,,	,,		10,152,12316				SO:0001651	inframe_deletion	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44447007_44447009delAGC	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"""Beta 4-glycosyltransferases"""	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.175_177delAGC	1.37:g.44447016_44447018delAGC	ENSP00000349293:p.Ser65del					B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.LA7del|B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del	p.S65del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN			2	965_967	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	65					B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	In_Frame_Del	DEL	ENST00000356836.6	37	c.175_177delAGC	CCDS506.1																																																																																				0.685	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		7	257						7	257	---	---	---	---
IPP	3652	broad.mit.edu	37	1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-	rs144663569		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		11	225						11	225	---	---	---	---
GBP1P1	400759	broad.mit.edu	37	1	89887469	89887469	+	RNA	DEL	G	G	-	rs368250339|rs12568474|rs533659254|rs67428662|rs574247327	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:89887469delG	ENST00000513638.1	+	0	557					NR_003133.2				guanylate binding protein 1, interferon-inducible pseudogene 1																		ctgtatttctgaaaaaaaaaa	0.318													?|G|-|unsure	4319	0.86242	0.9213	0.9236	5008	,	,		14349	0.7282		0.8887	False		,,,				2504	0.8507					ENST00000513638.1																			0																																																			0							g.chr1:89887469delG			1p22.2	2011-03-09			ENSG00000225492	ENSG00000225492			39561	pseudogene	pseudogene							Standard	NR_003133		Approved		uc009wcy.1		OTTHUMG00000010128		1.37:g.89887469delG								NR_003133.2						0	557	+									RNA	DEL	ENST00000513638.1	37																																																																																						0.318	GBP1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000360073.1	NR_003133		13	1						13	1	---	---	---	---
BRDT	676	broad.mit.edu	37	1	92447228	92447230	+	In_Frame_Del	DEL	AGC	AGC	-	rs375773077		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:92447228_92447230delAGC	ENST00000362005.3	+	13	2336_2338	c.1918_1920delAGC	c.(1918-1920)agcdel	p.S648del	BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000394530.3_In_Frame_Del_p.S602del|BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000370389.2_In_Frame_Del_p.S575del	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	648	Ser-rich.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ACTGAGTGAGagcagcagcagca	0.419																																						ENST00000370389.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(1699-1701)del		bromodomain, testis-specific																																				SO:0001651	inframe_deletion	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92447228_92447230delAGC	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1918_1920delAGC	1.37:g.92447237_92447239delAGC	ENSP00000354568:p.Ser648del					BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000394530.3_In_Frame_Del_p.S602del|BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000362005.3_In_Frame_Del_p.S648del	p.S575del	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	12	2623_2625	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	648					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	In_Frame_Del	DEL	ENST00000362005.3	37	c.1699_1701delAGC	CCDS735.1																																																																																				0.419	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		7	278						7	278	---	---	---	---
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-	rs372504208		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cccfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		2	Deletion - Frameshift(2)	p.P6fs*27(2)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(16-18)cfs		notch 2																																				SO:0001589	frameshift_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120612003_120612004delGG	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.17_18delCC	1.37:g.120612005_120612006delGG	ENSP00000256646:p.Pro6fs						p.P6fs	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	236_237	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	6					Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	c.17_18delCC	CCDS908.1																																																																																				0.762	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		35	96						35	96	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116645	121116645	+	lincRNA	DEL	T	T	-	rs377003181		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:121116645delT	ENST00000437515.1	-	0	329					NR_104189.1																						CAAGCCCCCCTTTAAAAAAAA	0.393																																						ENST00000437515.1																			0																																																			0							g.chr1:121116645delT																													1.37:g.121116645delT														0	329	-									RNA	DEL	ENST00000437515.1	37																																																																																						0.393	RP11-343N15.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098477.2			22	412						22	412	---	---	---	---
RP11-782C8.2	0	broad.mit.edu	37	1	143210193	143210194	+	lincRNA	INS	-	-	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	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			15	548						15	548	---	---	---	---
HFE2	148738	broad.mit.edu	37	1	145415369	145415371	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:145415369_145415371delGAG	ENST00000336751.5	+	3	426_428	c.188_190delGAG	c.(187-192)cgagga>cga	p.G69del	HFE2_ENST00000497365.1_Intron|HFE2_ENST00000357836.5_5'UTR|HFE2_ENST00000475797.1_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	69	Poly-Gly.			G -> GG (in Ref. 3; ABC40718). {ECO:0000305}.	axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGCACTTCGAGGAGGAGGAGG	0.626																																						ENST00000336751.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14						c.(187-192)cga>c		hemochromatosis type 2 (juvenile)			,,,	49,31,4178		2,0,45,10,11,2061					,,,	2.7	0.0			51	5,73,8160		0,0,5,23,27,4064	no	codingComplex,intron,intron,utr-5	HFE2	NM_213653.3,NM_213652.3,NM_202004.3,NM_145277.4	,,,	2,0,50,33,38,6125	A1A1,A1A2,A1R,A2A2,A2R,RR		0.9468,1.8788,1.2644	,,,	,,,		54,104,12338				SO:0001651	inframe_deletion	148738				axon guidance	anchored to membrane		g.chr1:145415369_145415371delGAG	AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"""repulsive guidance molecule c"""	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.188_190delGAG	1.37:g.145415378_145415380delGAG	ENSP00000337014:p.Gly69del					HFE2_ENST00000357836.5_5'UTR|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron	p.RG63del	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN			3	426_428	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		63					B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	In_Frame_Del	DEL	ENST00000336751.5	37	c.188_190delGAG	CCDS910.1																																																																																				0.626	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	NM_145277		19	704						19	704	---	---	---	---
POLR3GL	84265	broad.mit.edu	37	1	145457040	145457042	+	In_Frame_Del	DEL	TCT	TCT	-	rs587765256		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:145457040_145457042delTCT	ENST00000369314.1	-	7	625_627	c.519_521delAGA	c.(517-522)gaagag>gag	p.173_174EE>E	POLR3GL_ENST00000369313.3_In_Frame_Del_p.150_151EE>E	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like	173	Glu-rich.				gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ctcttccttctcttcttcttctt	0.448																																						ENST00000369314.1																			0				endometrium(2)|large_intestine(1)|lung(1)	4						c.(517-522)gag>ga		polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like																																				SO:0001651	inframe_deletion	84265							g.chr1:145457040_145457042delTCT	BC004355	CCDS72875.1	1q21.1	2008-02-05	2006-12-14		ENSG00000121851	ENSG00000121851			28466	protein-coding gene	gene with protein product			"""polymerase (RNA) III (DNA directed) polypeptide G (32kD) like"""			12477932	Standard	NM_032305		Approved	flj32422, MGC3200	uc001enp.1	Q9BT43	OTTHUMG00000013739	ENST00000369314.1:c.519_521delAGA	1.37:g.145457049_145457051delTCT	ENSP00000358320:p.Glu174del					POLR3GL_ENST00000369313.3_In_Frame_Del_p.EE150del	p.EE173del	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN			7	625_627	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		173			Glu-rich.		B1MVG5	In_Frame_Del	DEL	ENST00000369314.1	37	c.519_521delAGA	CCDS914.1																																																																																				0.448	POLR3GL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038510.1	NM_032305		10	304						10	304	---	---	---	---
SV2A	9900	broad.mit.edu	37	1	149885223	149885225	+	In_Frame_Del	DEL	TCA	TCA	-	rs199556773		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:149885223_149885225delTCA	ENST00000369146.3	-	2	658_660	c.168_170delTGA	c.(166-171)gatgac>gac	p.56_57DD>D	SV2A_ENST00000369145.1_In_Frame_Del_p.56_57DD>D	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	56	Interaction with SYT1. {ECO:0000250}.				cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AGCAGGGAAGTCATCATCATCAT	0.542																																						ENST00000369146.3																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55						c.(166-171)gac>ga		synaptic vesicle glycoprotein 2A	Levetiracetam(DB01202)																																			SO:0001651	inframe_deletion	0				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149885223_149885225delTCA	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.168_170delTGA	1.37:g.149885232_149885234delTCA	ENSP00000358142:p.Asp57del					SV2A_ENST00000369145.1_In_Frame_Del_p.DD56del	p.DD56del	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		2	658_660	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		56			Interaction with SYT1 (By similarity).		D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	In_Frame_Del	DEL	ENST00000369146.3	37	c.168_170delTGA	CCDS940.1																																																																																				0.542	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			9	1016						9	1016	---	---	---	---
ANXA9	8416	broad.mit.edu	37	1	150959077	150959077	+	Splice_Site	DEL	G	G	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:150959077delG	ENST00000368947.4	+	9	1028		c.e9-1			NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9						single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	acetylcholine receptor activity (GO:0015464)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCTCCTCCTAGGGGGGCCGTG	0.522																																						ENST00000368947.4																			0				endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8						c.e9-1		annexin A9				40,4226		19,2,2112	84.0	90.0	88.0			4.9	0.9	1		87	76,8178		37,2,4088	no	splice-3	ANXA9	NM_003568.2		56,4,6200	A1A1,A1R,RR		0.9208,0.9376,0.9265			150959077	116,12404	2203	4300	6503	SO:0001630	splice_region_variant	8416				cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity	g.chr1:150959077delG	AJ009985	CCDS975.2	1q21.2	2008-02-05			ENSG00000143412	ENSG00000143412		"""Annexins"""	547	protein-coding gene	gene with protein product		603319		ANX31		9742942, 9931420	Standard	NM_003568		Approved		uc001ewa.2	O76027	OTTHUMG00000035063	ENST00000368947.4:c.553-1G>-	1.37:g.150959077delG								NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		9	1028	+	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)							Q5SZF1|Q6FI55|Q9BS00|Q9HBJ6	Splice_Site	DEL	ENST00000368947.4	37		CCDS975.2																																																																																				0.522	ANXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084895.2	NM_003568	Intron	7	1109						7	1109	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152286884	152286885	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:152286884_152286885insT	ENST00000368799.1	-	3	512_513	c.477_478insA	c.(475-480)aaagaafs	p.E160fs	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	160					establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTTTTCTTTCTTTTTTTTCAG	0.342									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(475-480)aaaaagfs		filaggrin																																				SO:0001589	frameshift_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152286884_152286885insT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.478dupA	1.37:g.152286892_152286892dupT	ENSP00000357789:p.Glu160fs					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.KK159fs	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	512_513	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		159					Q01720|Q5T583|Q9UC71	Frame_Shift_Ins	INS	ENST00000368799.1	37	c.477_478insA	CCDS30860.1																																																																																				0.342	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		9	801						9	801	---	---	---	---
LCE2C	353140	broad.mit.edu	37	1	152648576	152648576	+	Frame_Shift_Del	DEL	C	C	-	rs561716750	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:152648576delC	ENST00000368783.1	+	2	140	c.85delC	c.(85-87)cccfs	p.P30fs	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	30	Cys-rich.				keratinization (GO:0031424)					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			acctaagtgtccccccaaATG	0.592																																						ENST00000368783.1																			0				endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13						c.(85-87)ccfs		late cornified envelope 2C							118.0	126.0	123.0					1																	152648576		2203	4300	6503	SO:0001589	frameshift_variant	353140				keratinization			g.chr1:152648576delC		CCDS1019.1	1q21.3	2008-02-05			ENSG00000187180	ENSG00000187180		"""Late cornified envelopes"""	29460	protein-coding gene	gene with protein product		612611				11698679	Standard	NM_178429		Approved	LEP11	uc001fah.4	Q5TA81	OTTHUMG00000012389	ENST00000368783.1:c.85delC	1.37:g.152648576delC	ENSP00000357772:p.Pro30fs					LCE2B_ENST00000417924.2_Intron	p.P30fs	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	140	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		30			Cys-rich.			Frame_Shift_Del	DEL	ENST00000368783.1	37	c.85delC	CCDS1019.1																																																																																				0.592	LCE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034509.1	NM_178429		7	1453						7	1453	---	---	---	---
LCE4A	199834	broad.mit.edu	37	1	152681693	152681698	+	In_Frame_Del	DEL	TGTGGT	TGTGGT	-	rs74871420|rs113617356|rs79268808		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:152681693_152681698delTGTGGT	ENST00000368777.1	+	2	398_403	c.142_147delTGTGGT	c.(142-147)tgtggtdel	p.CG48del	LCE4A_ENST00000335535.3_In_Frame_Del_p.CG48del			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	48	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CTCTGGGGGCTGTGGTTGCTGCAGCT	0.578																																						ENST00000368777.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10						c.(142-147)del		late cornified envelope 4A																																				SO:0001651	inframe_deletion	199834				keratinization			g.chr1:152681693_152681698delTGTGGT	BI670517	CCDS1022.1	1q22	2008-02-05	2004-10-11	2004-10-15	ENSG00000187170	ENSG00000187170		"""Late cornified envelopes"""	16613	protein-coding gene	gene with protein product		612618	"""small proline rich-like (epidermal differentiation complex) 4A"""	SPRL4A		11698679	Standard	NM_178356		Approved	LEP8	uc001fak.2	Q5TA78	OTTHUMG00000014394	ENST00000368777.1:c.142_147delTGTGGT	1.37:g.152681693_152681698delTGTGGT	ENSP00000357766:p.Cys48_Gly49del					LCE4A_ENST00000335535.3_In_Frame_Del_p.CG48del	p.CG48del			Q5TA78	LCE4A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.116)		2	398_403	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		48			Cys-rich.		Q14D97	In_Frame_Del	DEL	ENST00000368777.1	37	c.142_147delTGTGGT	CCDS1022.1																																																																																				0.578	LCE4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040048.1	NM_178356		12	1340						12	1340	---	---	---	---
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)gaadel	p.E40del	HAX1_ENST00000532105.1_Intron|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria. {ECO:0000250}.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome																													ENST00000328703.7																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(106-108)del		HCLS1 associated protein X-1			,	145,4121		1,143,1989					,	-10.8	0.2			60	303,7951		0,303,3824	no	coding,intron	HAX1	NM_006118.3,NM_001018837.1	,	1,446,5813	A1A1,A1R,RR		3.6709,3.399,3.5783	,	,		448,12072				SO:0001651	inframe_deletion	10456	Kostmann syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154245864_154245866delGAA	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.106_108delGAA	1.37:g.154245873_154245875delGAA	ENSP00000329002:p.Glu40del					HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000532105.1_Intron	p.E40del	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	319_321	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		40			Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	In_Frame_Del	DEL	ENST00000328703.7	37	c.106_108delGAA	CCDS1064.1																																																																																				0.522	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		17	763						17	763	---	---	---	---
APOA1BP	128240	broad.mit.edu	37	1	156562376	156562376	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:156562376delA	ENST00000368235.3	+	4	473	c.430delA	c.(430-432)aaafs	p.K144fs	APOA1BP_ENST00000368233.3_Frame_Shift_Del_p.K144fs|APOA1BP_ENST00000368234.3_Frame_Shift_Del_p.K144fs|APOA1BP_ENST00000467374.1_3'UTR	NM_144772.2	NP_658985.2			apolipoprotein A-I binding protein											central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTATTACCCCAAAAGGCCTAA	0.567																																						ENST00000368235.3																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9						c.(430-432)aafs		apolipoprotein A-I binding protein							171.0	172.0	172.0					1																	156562376		2203	4300	6503	SO:0001589	frameshift_variant	128240					extracellular region	protein binding	g.chr1:156562376delA	AJ315849	CCDS1145.1	1q21	2008-08-14			ENSG00000163382	ENSG00000163382			18453	protein-coding gene	gene with protein product	"""apoA-I binding protein"""	608862				11991719, 17533573	Standard	NM_144772		Approved	AIBP, MGC119143, MGC119144, MGC119145, YJEFN1	uc001fph.3	Q8NCW5	OTTHUMG00000033206	ENST00000368235.3:c.430delA	1.37:g.156562376delA	ENSP00000357218:p.Lys144fs					APOA1BP_ENST00000368234.3_Frame_Shift_Del_p.K144fs|APOA1BP_ENST00000467374.1_3'UTR|APOA1BP_ENST00000368233.3_Frame_Shift_Del_p.K144fs	p.K144fs	NM_144772.2	NP_658985.2	Q8NCW5	AIBP_HUMAN			4	473	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		144			YjeF N-terminal.			Frame_Shift_Del	DEL	ENST00000368235.3	37	c.430delA	CCDS1145.1																																																																																				0.567	APOA1BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081044.1	NM_144772		7	2062						7	2062	---	---	---	---
PVRL4	81607	broad.mit.edu	37	1	161044057	161044059	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:161044057_161044059delCAC	ENST00000368012.3	-	6	1407_1409	c.1105_1107delGTG	c.(1105-1107)gtgdel	p.V369del	PVRL4_ENST00000486694.1_5'Flank|PVRL4_ENST00000453926.2_In_Frame_Del_p.V103del	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	369					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGGACATGAGCACCACCACCACC	0.571																																					NSCLC(76;1160 1387 14476 16172 29359)	ENST00000368012.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(1105-1107)del		poliovirus receptor-related 4																																				SO:0001651	inframe_deletion	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161044057_161044059delCAC	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.1105_1107delGTG	1.37:g.161044066_161044068delCAC	ENSP00000356991:p.Val369del					PVRL4_ENST00000453926.2_In_Frame_Del_p.V103del	p.V369del	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		6	1407_1409	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		369					B4DQW3|Q96K15	In_Frame_Del	DEL	ENST00000368012.3	37	c.1105_1107delGTG	CCDS1216.1																																																																																				0.571	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		11	913						11	913	---	---	---	---
NOS1AP	9722	broad.mit.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:162326888_162326890delCAG	ENST00000361897.5	+	8	1303_1305	c.901_903delCAG	c.(901-903)cagdel	p.Q306del	NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	306	Poly-Gln.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			gcagctcctccagcagcAGCAGC	0.611																																						ENST00000361897.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32						c.(901-903)del		nitric oxide synthase 1 (neuronal) adaptor protein																																				SO:0001651	inframe_deletion	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162326888_162326890delCAG	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.901_903delCAG	1.37:g.162326897_162326899delCAG	ENSP00000355133:p.Gln306del					NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	p.Q306del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		8	1303_1305	+	all_hematologic(112;0.203)		306			Poly-Gln.		B7ZLF5|O43564|Q3T551|Q5VU95	In_Frame_Del	DEL	ENST00000361897.5	37	c.901_903delCAG	CCDS1237.1																																																																																				0.611	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		10	768						10	768	---	---	---	---
RASAL2	9462	broad.mit.edu	37	1	178412040	178412041	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:178412040_178412041insA	ENST00000462775.1	+	6	839_840	c.714_715insA	c.(715-717)aaafs	p.K239fs	RASAL2_ENST00000448150.3_Frame_Shift_Ins_p.K369fs|RASAL2_ENST00000367649.3_Frame_Shift_Ins_p.K387fs	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	239	C2.|Poly-Lys.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TGGAAAAAAAGAAAAAAAAGGA	0.406																																						ENST00000448150.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1102-1107)aaaaaafs		RAS protein activator like 2																																				SO:0001589	frameshift_variant	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178412040_178412041insA	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.722dupA	1.37:g.178412048_178412048dupA	ENSP00000420558:p.Lys239fs					RASAL2_ENST00000367649.3_Frame_Shift_Ins_p.KK386fs|RASAL2_ENST00000462775.1_Frame_Shift_Ins_p.KK238fs	p.KK368fs	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			8	1922_1923	+			238			Ras-GAP.		F8W755|O95174|Q2TB22|Q5TFU9	Frame_Shift_Ins	INS	ENST00000462775.1	37	c.1104_1105insA	CCDS1322.1																																																																																				0.406	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		8	975						8	975	---	---	---	---
PRG4	10216	broad.mit.edu	37	1	186276092	186276094	+	In_Frame_Del	DEL	CCA	CCA	-	rs112431404		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:186276092_186276094delCCA	ENST00000445192.2	+	7	1286_1288	c.1241_1243delCCA	c.(1240-1245)cccacc>ccc	p.T417del	PRG4_ENST00000367485.4_In_Frame_Del_p.T324del|PRG4_ENST00000367486.3_In_Frame_Del_p.T374del|PRG4_ENST00000367483.4_In_Frame_Del_p.T376del|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	417	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)			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						GAGCCTGCACCCACCACCACCAA	0.66																																						ENST00000445192.2																			0				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.(1240-1245)ccc>c		proteoglycan 4																																				SO:0001651	inframe_deletion	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276092_186276094delCCA	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.1241_1243delCCA	1.37:g.186276101_186276103delCCA	ENSP00000399679:p.Thr417del					PRG4_ENST00000367483.4_In_Frame_Del_p.PT373del|PRG4_ENST00000367486.3_In_Frame_Del_p.PT371del|PRG4_ENST00000367485.4_In_Frame_Del_p.PT321del|PRG4_ENST00000367484.3_Intron	p.PT414del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1286_1288	+			414			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	In_Frame_Del	DEL	ENST00000445192.2	37	c.1241_1243delCCA	CCDS1369.1																																																																																				0.660	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		8	1428						8	1428	---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197072497	197072497	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:197072497delT	ENST00000367409.4	-	18	6140	c.5884delA	c.(5884-5886)acafs	p.T1962fs	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1962	IQ 12. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTTCTCAGTGTTTTTCCCTTC	0.393																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(5884-5886)cafs		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							223.0	217.0	219.0					1																	197072497		2203	4299	6502	SO:0001589	frameshift_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197072497delT	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5884delA	1.37:g.197072497delT	ENSP00000356379:p.Thr1962fs					ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.T1962fs	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	6140	-			1962			IQ 12.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Frame_Shift_Del	DEL	ENST00000367409.4	37	c.5884delA	CCDS1389.1																																																																																				0.393	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		9	2084						9	2084	---	---	---	---
TNNT2	7139	broad.mit.edu	37	1	201332505	201332507	+	In_Frame_Del	DEL	CTC	CTC	-	rs397516470		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:201332505_201332507delCTC	ENST00000509001.1	-	11	773_775	c.487_489delGAG	c.(487-489)gagdel	p.E163del	TNNT2_ENST00000367320.2_In_Frame_Del_p.E133del|TNNT2_ENST00000367317.4_In_Frame_Del_p.E163del|TNNT2_ENST00000367322.1_In_Frame_Del_p.E163del|TNNT2_ENST00000360372.4_In_Frame_Del_p.E158del|TNNT2_ENST00000421663.2_In_Frame_Del_p.E165del|TNNT2_ENST00000367315.2_In_Frame_Del_p.E163del|TNNT2_ENST00000460780.1_5'UTR|TNNT2_ENST00000236918.7_In_Frame_Del_p.E168del|TNNT2_ENST00000367318.5_In_Frame_Del_p.E163del|TNNT2_ENST00000458432.2_In_Frame_Del_p.E175del	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	173					ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						TCCTCCTGTTCTCCTCCTCCTCT	0.522																																						ENST00000509001.1																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20	GRCh37	CD951865|CM951220	TNNT2	D|M		c.(487-489)del		troponin T type 2 (cardiac)																																				SO:0001651	inframe_deletion	7139				ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr1:201332505_201332507delCTC	X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"""troponin T2, cardiac"", ""cardiomyopathy, hypertrophic 2"", ""cardiomyopathy, dilated 1D (autosomal dominant)"""	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.487_489delGAG	1.37:g.201332514_201332516delCTC	ENSP00000422031:p.Glu163del					TNNT2_ENST00000236918.7_In_Frame_Del_p.E168del|TNNT2_ENST00000360372.4_In_Frame_Del_p.E158del|TNNT2_ENST00000367317.4_In_Frame_Del_p.E163del|TNNT2_ENST00000458432.2_In_Frame_Del_p.E175del|TNNT2_ENST00000421663.2_In_Frame_Del_p.E165del|TNNT2_ENST00000367315.2_In_Frame_Del_p.E163del|TNNT2_ENST00000367318.5_In_Frame_Del_p.E163del|TNNT2_ENST00000367320.2_In_Frame_Del_p.E133del|TNNT2_ENST00000367322.1_In_Frame_Del_p.E163del|TNNT2_ENST00000460780.1_5'UTR	p.E163del	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN			11	773_775	-			173					A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	In_Frame_Del	DEL	ENST00000509001.1	37	c.487_489delGAG	CCDS30969.1																																																																																				0.522	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360358.1	NM_000364		7	1721						7	1721	---	---	---	---
DYRK3	8444	broad.mit.edu	37	1	206821440	206821441	+	Frame_Shift_Ins	INS	-	-	A	rs199522696	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:206821440_206821441insA	ENST00000367109.2	+	3	1065_1066	c.897_898insA	c.(898-900)aaafs	p.K300fs	DYRK3_ENST00000367108.3_Frame_Shift_Ins_p.K280fs|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367106.1_Frame_Shift_Ins_p.K280fs	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	300	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			ATGAGCTGATTAAAAAAAATAA	0.406																																					Melanoma(164;427 2622 26826 51707)	ENST00000367106.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25						c.(835-840)ataaaafs		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3																																				SO:0001589	frameshift_variant	8444				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:206821440_206821441insA	Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"""regulatory erythroid kinase"", ""dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5"", ""protein kinase Dyrk3"""	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.905dupA	1.37:g.206821448_206821448dupA	ENSP00000356076:p.Lys300fs					DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367109.2_Frame_Shift_Ins_p.IK299fs|DYRK3_ENST00000367108.3_Frame_Shift_Ins_p.IK279fs	p.IK279fs			O43781	DYRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		4	1310_1311	+	Breast(84;0.183)		299			Protein kinase.		D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Frame_Shift_Ins	INS	ENST00000367109.2	37	c.837_838insA	CCDS30999.1																																																																																				0.406	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	NM_003582		8	1457						8	1457	---	---	---	---
CR1L	1379	broad.mit.edu	37	1	207867814	207867814	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:207867814delA	ENST00000508064.2	+	5	640	c.580delA	c.(580-582)aaafs	p.K195fs	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	195	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AAGCAGAGGGAAAAAGGTGTT	0.507																																						ENST00000508064.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(580-582)aafs		complement component (3b/4b) receptor 1-like							215.0	196.0	202.0					1																	207867814		1922	4144	6066	SO:0001589	frameshift_variant	1379					cytoplasm|extracellular region|membrane		g.chr1:207867814delA	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.580delA	1.37:g.207867814delA	ENSP00000421736:p.Lys195fs					CR1L_ENST00000530905.1_Intron	p.K195fs	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN			5	640	+			195			Sushi 3.		Q32MC9|Q8NEU7	Frame_Shift_Del	DEL	ENST00000508064.2	37	c.580delA	CCDS44310.1																																																																																				0.507	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		7	1843						7	1843	---	---	---	---
CENPF	1063	broad.mit.edu	37	1	214818826	214818826	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:214818826delA	ENST00000366955.3	+	13	6081	c.5913delA	c.(5911-5913)tcafs	p.S1971fs		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2067					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ATACTATGTCAAAAAAAACCA	0.408																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(5911-5913)tcfs		centromere protein F, 350/400kDa				15,4251		3,9,2121	53.0	58.0	56.0			1.9	0.1	1		57	17,8235		5,7,4114	no	frameshift	CENPF	NM_016343.3		8,16,6235	A1A1,A1R,RR		0.206,0.3516,0.2556			214818826	32,12486	2203	4300	6503	SO:0001589	frameshift_variant	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214818826delA	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.5913delA	1.37:g.214818826delA	ENSP00000355922:p.Ser1971fs						p.S1971fs	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	13	6081	+			2067					Q13171|Q13246|Q5VVM7	Frame_Shift_Del	DEL	ENST00000366955.3	37	c.5913delA	CCDS31023.1																																																																																				0.408	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		9	716						9	716	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237969494	237969494	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:237969494delT	ENST00000366574.2	+	99	14526	c.14209delT	c.(14209-14211)tttfs	p.F4739fs	RYR2_ENST00000360064.6_Frame_Shift_Del_p.F4745fs|RYR2_ENST00000542537.1_Frame_Shift_Del_p.F4723fs	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		11	427						11	427	---	---	---	---
OR2T33	391195	broad.mit.edu	37	1	248437112	248437112	+	Frame_Shift_Del	DEL	T	T	-	rs372045862		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:248437112delT	ENST00000318021.2	-	1	26	c.5delA	c.(4-6)gagfs	p.E2fs		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTTCTCATCTCCATAATTTC	0.428																																						ENST00000318021.2																			0				NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67						c.(4-6)ggfs		olfactory receptor, family 2, subfamily T, member 33							45.0	47.0	46.0					1																	248437112		2145	4249	6394	SO:0001589	frameshift_variant	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248437112delT		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.5delA	1.37:g.248437112delT	ENSP00000324687:p.Glu2fs						p.E2fs	NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	26	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		2					B2RNN0	Frame_Shift_Del	DEL	ENST00000318021.2	37	c.5delA	CCDS31109.1																																																																																				0.428	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		17	909						17	909	---	---	---	---
PUM2	23369	broad.mit.edu	37	2	20482977	20482979	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:20482977_20482979delGCT	ENST00000361078.2	-	11	1471_1473	c.1449_1451delAGC	c.(1447-1452)gcagct>gct	p.483_484AA>A	PUM2_ENST00000403432.1_In_Frame_Del_p.483_484AA>A|PUM2_ENST00000536417.1_In_Frame_Del_p.427_428AA>A|PUM2_ENST00000338086.5_In_Frame_Del_p.483_484AA>A|PUM2_ENST00000319801.5_In_Frame_Del_p.483_484AA>A			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	483	Ala-rich.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTCCTCCAGCTGCTGCTGCTG	0.424																																						ENST00000361078.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(1447-1452)gct>gc		pumilio RNA-binding family member 2																																				SO:0001651	inframe_deletion	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20482977_20482979delGCT	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.1449_1451delAGC	2.37:g.20482986_20482988delGCT	ENSP00000354370:p.Ala484del					PUM2_ENST00000338086.5_In_Frame_Del_p.AA483del|PUM2_ENST00000536417.1_In_Frame_Del_p.AA427del|PUM2_ENST00000319801.5_In_Frame_Del_p.AA483del|PUM2_ENST00000403432.1_In_Frame_Del_p.AA483del	p.AA483del			Q8TB72	PUM2_HUMAN			11	1471_1473	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		483			Ala-rich.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	In_Frame_Del	DEL	ENST00000361078.2	37	c.1449_1451delAGC																																																																																					0.424	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		7	498						7	498	---	---	---	---
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	CTG	-	rs539079430		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:26022304_26022306delCTG	ENST00000435504.4	-	5	644_646	c.351_353delCAG	c.(349-354)agcagt>agt	p.117_118SS>S	ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.89_90SS>S|ASXL2_ENST00000497092.1_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	117	Ser-rich.				adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(349-354)agt>ag		additional sex combs like 2 (Drosophila)																																				SO:0001651	inframe_deletion	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:26022304_26022306delCTG			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.351_353delCAG	2.37:g.26022313_26022315delCTG	ENSP00000391447:p.Ser118del					ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR	p.SS117del			Q76L83	ASXL2_HUMAN			5	644_646	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		117			Ser-rich.		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	In_Frame_Del	DEL	ENST00000435504.4	37	c.351_353delCAG																																																																																					0.463	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		9	803						9	803	---	---	---	---
DHX57	90957	broad.mit.edu	37	2	39095411	39095413	+	In_Frame_Del	DEL	CCA	CCA	-	rs199521315|rs372484063|rs199910361	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:39095411_39095413delCCA	ENST00000295373.6	-	2	261_263	c.135_137delTGG	c.(133-138)ggtgga>gga	p.45_46GG>G	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	45	Gly-rich.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				Gccgccacctccaccaccaccac	0.532														22	0.00439297	0.0159	0.0014	5008	,	,		13864	0.0		0.0	False		,,,				2504	0.0				Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(133-138)gga>gg		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57																																				SO:0001651	inframe_deletion	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39095411_39095413delCCA	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.135_137delTGG	2.37:g.39095420_39095422delCCA	ENSP00000295373:p.Gly49del						p.GG47del	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			2	261_263	-		all_hematologic(82;0.248)	47			Gly-rich.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	In_Frame_Del	DEL	ENST00000295373.6	37	c.135_137delTGG	CCDS1800.1																																																																																				0.532	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		15	573						15	573	---	---	---	---
FOXN2	3344	broad.mit.edu	37	2	48573666	48573667	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:48573666_48573667insA	ENST00000340553.3	+	3	574_575	c.313_314insA	c.(313-315)gaafs	p.E105fs		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	105					transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			CCAGAACCCAGAAAAAAAATCA	0.431																																						ENST00000340553.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(313-315)aaafs		forkhead box N2																																				SO:0001589	frameshift_variant	3344				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:48573666_48573667insA		CCDS1838.1	2p22-p16	2008-02-05	2006-10-02	2006-10-02	ENSG00000170802	ENSG00000170802		"""Forkhead boxes"""	5281	protein-coding gene	gene with protein product		143089	"""human T-cell leukemia virus enhancer factor"""	HTLF		1639393	Standard	NM_002158		Approved		uc002rwh.1	P32314	OTTHUMG00000129168	ENST00000340553.3:c.321dupA	2.37:g.48573674_48573674dupA	ENSP00000343633:p.Glu105fs						p.K105fs	NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)		3	574_575	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	105					Q15769|Q6P4Q2	Frame_Shift_Ins	INS	ENST00000340553.3	37	c.313_314insA	CCDS1838.1																																																																																				0.431	FOXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251240.3	NM_002158		7	729						7	729	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61575023	61575025	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:61575023_61575025delTGG	ENST00000398571.2	-	15	2341_2343	c.2265_2267delCCA	c.(2263-2268)caccat>cat	p.755_756HH>H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	755					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			gtggtggtgatggtggtggtggt	0.389																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(2263-2268)cat>ca		ubiquitin specific peptidase 34																																				SO:0001651	inframe_deletion	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61575023_61575025delTGG	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.2265_2267delCCA	2.37:g.61575032_61575034delTGG	ENSP00000381577:p.His760del						p.HH759del	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		15	2341_2343	-			759					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	In_Frame_Del	DEL	ENST00000398571.2	37	c.2265_2267delCCA	CCDS42686.1																																																																																				0.389	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			7	444						7	444	---	---	---	---
AC027612.3	0	broad.mit.edu	37	2	91887905	91887906	+	RNA	INS	-	-	T	rs374250838|rs369805878|rs199562278	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:91887905_91887906insT	ENST00000436174.1	-	0	540																											GCTATTTTCCATTTTTTTTTTT	0.292														393	0.0784744	0.1354	0.0533	5008	,	,		61150	0.0546		0.0567	False		,,,				2504	0.0665					ENST00000436174.1																			0																																																			0							g.chr2:91887905_91887906insT																													2.37:g.91887916_91887916dupT														0	540	-									RNA	INS	ENST00000436174.1	37																																																																																						0.292	AC027612.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338339.1			30	309						30	309	---	---	---	---
AC027612.3	0	broad.mit.edu	37	2	91899642	91899642	+	RNA	DEL	G	G	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:91899642delG	ENST00000436174.1	-	0	168																											AAAAAAAAAAGCAAAGTAGGA	0.269																																						ENST00000436174.1																			0																																																			0							g.chr2:91899642delG																													2.37:g.91899642delG														0	168	-									RNA	DEL	ENST00000436174.1	37																																																																																						0.269	AC027612.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338339.1			8	174						8	174	---	---	---	---
TMEM127	55654	broad.mit.edu	37	2	96919781	96919783	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:96919781_96919783delTGC	ENST00000258439.3	-	4	736_738	c.480_482delGCA	c.(478-483)cagcat>cat	p.Q160del	TMEM127_ENST00000432959.1_In_Frame_Del_p.Q160del|TMEM127_ENST00000435268.1_In_Frame_Del_p.Q76del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	160					negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GTACTTCTTATGCTGCTGCTGCT	0.557																																						ENST00000258439.2																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						c.(478-483)cat>ca		transmembrane protein 127																																				SO:0001651	inframe_deletion	55654				negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane		g.chr2:96919781_96919783delTGC	AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454	ENST00000258439.3:c.480_482delGCA	2.37:g.96919790_96919792delTGC	ENSP00000258439:p.Gln160del					TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del|TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del	p.QH160del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN			4	736_738	-			160					D3DXH0	In_Frame_Del	DEL	ENST00000258439.3	37	c.480_482delGCA	CCDS2018.1																																																																																				0.557	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252845.3	NM_017849		10	582						10	582	---	---	---	---
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:98427639delT	ENST00000186436.5	-	18	2148	c.1920delA	c.(1918-1920)aaafs	p.K640fs		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	640						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCCCCTCTAATTTTTTTGCAG	0.393																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(1918-1920)aafs		transmembrane protein 131							277.0	265.0	269.0					2																	98427639		1831	4095	5926	SO:0001589	frameshift_variant	23505					integral to membrane		g.chr2:98427639delT	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1920delA	2.37:g.98427639delT	ENSP00000186436:p.Lys640fs						p.K640fs	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			18	2148	-			640						Frame_Shift_Del	DEL	ENST00000186436.5	37	c.1920delA	CCDS46368.1																																																																																				0.393	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		9	1347						9	1347	---	---	---	---
GCC2	9648	broad.mit.edu	37	2	109087883	109087884	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	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		16	1286						16	1286	---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109380485	109380487	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:109380485_109380487delGAT	ENST00000283195.6	+	20	3616_3618	c.3490_3492delGAT	c.(3490-3492)gatdel	p.D1168del		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1168					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGCCCATGGGGATGATGATGATG	0.424																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(3490-3492)del		RAN binding protein 2																																				SO:0001651	inframe_deletion	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109380485_109380487delGAT	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.3490_3492delGAT	2.37:g.109380494_109380496delGAT	ENSP00000283195:p.Asp1168del						p.D1168del	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	3616_3618	+			1168					Q13074|Q15280|Q53TE2|Q59FH7	In_Frame_Del	DEL	ENST00000283195.6	37	c.3490_3492delGAT	CCDS2079.1																																																																																				0.424	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		7	748						7	748	---	---	---	---
SLC35F5	80255	broad.mit.edu	37	2	114480773	114480774	+	Splice_Site	INS	-	-	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:114480773_114480774insA	ENST00000245680.2	-	13	1664		c.e13-2		SLC35F5_ENST00000470204.2_Splice_Site|MIR4782_ENST00000577987.1_RNA	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5						transport (GO:0006810)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						AAGCAGCCCCtaaaaaaaagaa	0.337																																						ENST00000245680.2																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						c.e13-2		solute carrier family 35, member F5																																				SO:0001630	splice_region_variant	80255				transport	integral to membrane		g.chr2:114480773_114480774insA	AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"""Solute carriers"""	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.1251-2->T	2.37:g.114480781_114480781dupA						SLC35F5_ENST00000470204.2_Splice_Site		NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN			13	1664	-								Q9H6P8|Q9H7D8	Splice_Site	INS	ENST00000245680.2	37		CCDS2119.1																																																																																				0.337	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181	Intron	7	513						7	513	---	---	---	---
R3HDM1	23518	broad.mit.edu	37	2	136409480	136409482	+	In_Frame_Del	DEL	CCT	CCT	-	rs139457585		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:136409480_136409482delCCT	ENST00000264160.4	+	17	2171_2173	c.1801_1803delCCT	c.(1801-1803)cctdel	p.P605del	R3HDM1_ENST00000409606.1_In_Frame_Del_p.P606del|R3HDM1_ENST00000410054.1_In_Frame_Del_p.P550del|R3HDM1_ENST00000329971.3_In_Frame_Del_p.P476del|R3HDM1_ENST00000409478.1_In_Frame_Del_p.P477del	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	605	Poly-Pro.						poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		accaccaccacctcctcctcctc	0.586																																						ENST00000264160.4																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38						c.(1801-1803)del		R3H domain containing 1																																				SO:0001651	inframe_deletion	23518						nucleic acid binding	g.chr2:136409480_136409482delCCT	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.1801_1803delCCT	2.37:g.136409489_136409491delCCT	ENSP00000264160:p.Pro605del					R3HDM1_ENST00000409478.1_In_Frame_Del_p.P477del|R3HDM1_ENST00000329971.3_In_Frame_Del_p.P476del|R3HDM1_ENST00000410054.1_In_Frame_Del_p.P550del|R3HDM1_ENST00000409606.1_In_Frame_Del_p.P606del	p.P605del	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	17	2171_2173	+			605			Poly-Pro.		A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	In_Frame_Del	DEL	ENST00000264160.4	37	c.1801_1803delCCT	CCDS2177.1																																																																																				0.586	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		7	461						7	461	---	---	---	---
CSRNP3	80034	broad.mit.edu	37	2	166532950	166532950	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:166532950delA	ENST00000342316.4	+	4	809	c.537delA	c.(535-537)acafs	p.T179fs	CSRNP3_ENST00000314499.7_Frame_Shift_Del_p.T179fs|CSRNP3_ENST00000409420.1_Frame_Shift_Del_p.T211fs	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	179					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						CTTTGCCAACAAAAAAACGAA	0.478																																						ENST00000314499.7																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						c.(535-537)acfs		cysteine-serine-rich nuclear protein 3							185.0	189.0	188.0					2																	166532950		2203	4300	6503	SO:0001589	frameshift_variant	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166532950delA	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.537delA	2.37:g.166532950delA	ENSP00000344042:p.Thr179fs					CSRNP3_ENST00000342316.4_Frame_Shift_Del_p.T179fs|CSRNP3_ENST00000409420.1_Frame_Shift_Del_p.T211fs	p.T179fs	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN			6	913	+			179					B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Frame_Shift_Del	DEL	ENST00000342316.4	37	c.537delA	CCDS2225.1																																																																																				0.478	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		9	1360						9	1360	---	---	---	---
COL5A2	1290	broad.mit.edu	37	2	189921735	189921735	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:189921735delT	ENST00000374866.3	-	35	2629	c.2355delA	c.(2353-2355)aaafs	p.K785fs		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	785					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CTTCAGCACCTTTTTCTCCTA	0.403																																						ENST00000374866.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(2353-2355)aafs		collagen, type V, alpha 2							178.0	168.0	172.0					2																	189921735		2203	4300	6503	SO:0001589	frameshift_variant	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189921735delT	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.2355delA	2.37:g.189921735delT	ENSP00000364000:p.Lys785fs						p.K785fs	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		35	2629	-			785					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Frame_Shift_Del	DEL	ENST00000374866.3	37	c.2355delA	CCDS33350.1																																																																																				0.403	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		9	909						9	909	---	---	---	---
COL4A4	1286	broad.mit.edu	37	2	227896886	227896886	+	Frame_Shift_Del	DEL	C	C	-	rs2229812	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:227896886delC	ENST00000396625.3	-	39	3891	c.3684delG	c.(3682-3684)aagfs	p.K1229fs	COL4A4_ENST00000329662.7_Frame_Shift_Del_p.K1229fs	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1229	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGGGACCTTTCTTTCCACGAG	0.522																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(3682-3684)aafs		collagen, type IV, alpha 4							75.0	77.0	76.0					2																	227896886		1844	4079	5923	SO:0001589	frameshift_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227896886delC		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.3684delG	2.37:g.227896886delC	ENSP00000379866:p.Lys1229fs					COL4A4_ENST00000329662.7_Frame_Shift_Del_p.K1229fs	p.K1229fs	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	39	3891	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1229			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Frame_Shift_Del	DEL	ENST00000396625.3	37	c.3684delG	CCDS42828.1																																																																																				0.522	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		7	672						7	672	---	---	---	---
EDEM1	9695	broad.mit.edu	37	3	5248941	5248941	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	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	816						7	816	---	---	---	---
CLASP2	23122	broad.mit.edu	37	3	33602361	33602361	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:33602361delT	ENST00000468888.2	-	28	2939	c.2893delA	c.(2893-2895)atgfs	p.M965fs	CLASP2_ENST00000359576.5_Frame_Shift_Del_p.M956fs|CLASP2_ENST00000480013.1_Frame_Shift_Del_p.M744fs|CLASP2_ENST00000461133.3_Frame_Shift_Del_p.M724fs|CLASP2_ENST00000399362.4_Frame_Shift_Del_p.M964fs|CLASP2_ENST00000539981.1_Frame_Shift_Del_p.M734fs|CLASP2_ENST00000307312.7_Frame_Shift_Del_p.M446fs			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	745	Interaction with RSN and localization to the Golgi and kinetochores.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TCAGCACCCATTTTTTTTAGT	0.343																																						ENST00000399362.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(2890-2892)tgfs		cytoplasmic linker associated protein 2							188.0	194.0	192.0					3																	33602361		1841	4103	5944	SO:0001589	frameshift_variant	23122							g.chr3:33602361delT	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.2893delA	3.37:g.33602361delT	ENSP00000419974:p.Met965fs					CLASP2_ENST00000307312.7_Frame_Shift_Del_p.M446fs|CLASP2_ENST00000480013.1_Frame_Shift_Del_p.M744fs|CLASP2_ENST00000461133.3_Frame_Shift_Del_p.M724fs|CLASP2_ENST00000468888.2_Frame_Shift_Del_p.M965fs|CLASP2_ENST00000359576.5_Frame_Shift_Del_p.M956fs|CLASP2_ENST00000539981.1_Frame_Shift_Del_p.M734fs	p.M964fs	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN			28	3243	-			966					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Frame_Shift_Del	DEL	ENST00000468888.2	37	c.2890delA																																																																																					0.343	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		7	724						7	724	---	---	---	---
ANO10	55129	broad.mit.edu	37	3	43647213	43647213	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:43647213delT	ENST00000292246.3	-	2	302	c.132delA	c.(130-132)aaafs	p.K44fs	ANO10_ENST00000414522.2_Frame_Shift_Del_p.K44fs|ANO10_ENST00000350459.4_Frame_Shift_Del_p.K44fs|ANO10_ENST00000451430.2_Frame_Shift_Del_p.K44fs|ANO10_ENST00000396091.3_Frame_Shift_Del_p.K44fs	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	44					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						CACCTCCATCTTTTTTTTTAG	0.408																																						ENST00000292246.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						c.(130-132)aafs		anoctamin 10							142.0	128.0	133.0					3																	43647213		2203	4300	6503	SO:0001589	frameshift_variant	55129				cell death	chloride channel complex	chloride channel activity	g.chr3:43647213delT	AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25519	protein-coding gene	gene with protein product		613726	"""transmembrane protein 16K"""	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.132delA	3.37:g.43647213delT	ENSP00000292246:p.Lys44fs					ANO10_ENST00000396091.3_Frame_Shift_Del_p.K44fs|ANO10_ENST00000350459.4_Frame_Shift_Del_p.K44fs|ANO10_ENST00000451430.2_Frame_Shift_Del_p.K44fs|ANO10_ENST00000414522.2_Frame_Shift_Del_p.K44fs	p.K44fs	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN			2	302	-			44					A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Frame_Shift_Del	DEL	ENST00000292246.3	37	c.132delA	CCDS2710.2																																																																																				0.408	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2	NM_018075		8	334						8	334	---	---	---	---
LRIG1	26018	broad.mit.edu	37	3	66436625	66436627	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:66436625_66436627delGCT	ENST00000273261.3	-	13	2091_2093	c.1567_1569delAGC	c.(1567-1569)agcdel	p.S524del	LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000383703.3_In_Frame_Del_p.S548del|SLC25A26_ENST00000536651.1_3'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	524	Ig-like C2-type 1.|Poly-Ser.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCATGGGGGAGCTGCTGCTGCTG	0.547																																						ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(1639-1641)del		leucine-rich repeats and immunoglobulin-like domains 1																																				SO:0001651	inframe_deletion	26018					integral to membrane		g.chr3:66436625_66436627delGCT	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1567_1569delAGC	3.37:g.66436634_66436636delGCT	ENSP00000273261:p.Ser524del					LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000496559.2_5'UTR	p.S548del			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	14	2242_2244	-		Lung NSC(201;0.0101)	524			Ig-like C2-type 1.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	In_Frame_Del	DEL	ENST00000273261.3	37	c.1639_1641delAGC	CCDS33783.1																																																																																				0.547	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		7	1630						7	1630	---	---	---	---
ATP6V1A	523	broad.mit.edu	37	3	113505224	113505224	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:113505224delT	ENST00000273398.3	+	6	818	c.710delT	c.(709-711)cttfs	p.L237fs	ATP6V1A_ENST00000538620.1_Frame_Shift_Del_p.L204fs	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	237					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	CTTGATGCCCTTTTTCCGTAA	0.423																																						ENST00000273398.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(709-711)ctfs		ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A							219.0	201.0	207.0					3																	113505224		2203	4300	6503	SO:0001589	frameshift_variant	523				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr3:113505224delT	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"""ATPases / V-type"""	851	protein-coding gene	gene with protein product		607027	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"""	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.710delT	3.37:g.113505224delT	ENSP00000273398:p.Leu237fs					ATP6V1A_ENST00000538620.1_Frame_Shift_Del_p.L204fs	p.L237fs	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN			6	818	+			237					B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Frame_Shift_Del	DEL	ENST00000273398.3	37	c.710delT	CCDS2976.1																																																																																				0.423	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		7	1042						7	1042	---	---	---	---
WWTR1	25937	broad.mit.edu	37	3	149260194	149260196	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:149260194_149260196delCTG	ENST00000465804.1	-	5	953_955	c.697_699delCAG	c.(697-699)cagdel	p.Q233del	WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del|WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	233	Gln-rich.				cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCGCAGTTTCTGCTGCTGCTGC	0.581			T	CAMTA1	epitheliod hemangioendothelioma																																	ENST00000465804.1				Dom	yes		3	3q23-q24	607392	T	WW domain containing transcription regulator 1			M	CAMTA1		epitheliod hemangioendothelioma		0				breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23						c.(697-699)del		WW domain containing transcription regulator 1																																				SO:0001651	inframe_deletion	25937				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	g.chr3:149260194_149260196delCTG	AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.697_699delCAG	3.37:g.149260203_149260205delCTG	ENSP00000419465:p.Gln233del					WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del|WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del	p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		5	953_955	-			233			Gln-rich.		D3DNH7|Q8N3P2|Q9Y3W6	In_Frame_Del	DEL	ENST00000465804.1	37	c.697_699delCAG	CCDS3144.1																																																																																				0.581	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472		9	421						9	421	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	150877786	150877786	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:150877786delC	ENST00000474524.1	+	7	1043	c.1005delC	c.(1003-1005)ggcfs	p.G335fs	MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	335						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGCCCTGGCCCCCCCGGCC	0.582																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(1003-1005)ggfs		mediator complex subunit 12-like							83.0	94.0	90.0					3																	150877786		2203	4300	6503	SO:0001589	frameshift_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150877786delC	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1005delC	3.37:g.150877786delC	ENSP00000417235:p.Gly335fs					MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs	p.G335fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		7	1043	+			335					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Frame_Shift_Del	DEL	ENST00000474524.1	37	c.1005delC	CCDS33876.1																																																																																				0.582	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		7	1036						7	1036	---	---	---	---
PQLC2L	152078	broad.mit.edu	37	3	157289824	157289825	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:157289824_157289825insA	ENST00000449199.2	+	4	435_436	c.294_295insA	c.(295-297)aaafs	p.K99fs	C3orf55_ENST00000426338.2_Intron|C3orf55_ENST00000459838.1_Intron|C3orf55_ENST00000312275.5_Frame_Shift_Ins_p.K99fs|C3orf55_ENST00000461040.1_Intron	NM_001130002.2	NP_001123474.1	A1A4F0	CC055_HUMAN		99										breast(1)|lung(1)	2			Lung(72;0.0215)|LUSC - Lung squamous cell carcinoma(72;0.037)			AGAATCAGAAGAAAAAAATGTA	0.302																																						ENST00000449199.2																			0				breast(1)|lung(1)	2						c.(292-297)aaaaaafs		chromosome 3 open reading frame 55																																				SO:0001589	frameshift_variant	152078							g.chr3:157289824_157289825insA																												ENST00000449199.2:c.301dupA	3.37:g.157289831_157289831dupA	ENSP00000413228:p.Lys99fs					C3orf55_ENST00000426338.2_Intron|C3orf55_ENST00000459838.1_Intron|C3orf55_ENST00000461040.1_Intron|C3orf55_ENST00000312275.5_Frame_Shift_Ins_p.KK98fs	p.KK98fs	NM_001130002.2	NP_001123474.1	A1A4F0	CC055_HUMAN	Lung(72;0.0215)|LUSC - Lung squamous cell carcinoma(72;0.037)		4	435_436	+			98					C9JP04|C9JXB5|Q8N6Q6	Frame_Shift_Ins	INS	ENST00000449199.2	37	c.294_295insA	CCDS46943.1																																																																																				0.302	C3orf55-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352018.1			11	16						11	16	---	---	---	---
SMC4	10051	broad.mit.edu	37	3	160143939	160143940	+	Frame_Shift_Ins	INS	-	-	A	rs202139466	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:160143939_160143940insA	ENST00000357388.3	+	17	3007_3008	c.2556_2557insA	c.(2557-2559)aaafs	p.K853fs	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Frame_Shift_Ins_p.K853fs|SMC4_ENST00000469762.1_Frame_Shift_Ins_p.K828fs|SMC4_ENST00000344722.5_Frame_Shift_Ins_p.K853fs|SMC4_ENST00000360111.2_Frame_Shift_Ins_p.K853fs	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	853					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CAGCCCCTGACAAAAAAAAGCA	0.322																																						ENST00000357388.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2554-2559)gaaaaafs		structural maintenance of chromosomes 4																																				SO:0001589	frameshift_variant	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160143939_160143940insA	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.2564dupA	3.37:g.160143947_160143947dupA	ENSP00000349961:p.Lys853fs					RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Frame_Shift_Ins_p.EK852fs|SMC4_ENST00000469762.1_Frame_Shift_Ins_p.EK827fs|SMC4_ENST00000344722.5_Frame_Shift_Ins_p.EK852fs|SMC4_ENST00000360111.2_Frame_Shift_Ins_p.EK852fs	p.EK852fs	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		17	3007_3008	+			852					A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Frame_Shift_Ins	INS	ENST00000357388.3	37	c.2556_2557insA	CCDS3189.1																																																																																				0.322	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			12	1195						12	1195	---	---	---	---
PROM1	8842	broad.mit.edu	37	4	15995680	15995680	+	Frame_Shift_Del	DEL	T	T	-	rs376676164		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:15995680delT	ENST00000510224.1	-	16	1945	c.1697delA	c.(1696-1698)aatfs	p.N566fs	PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000505450.1_Frame_Shift_Del_p.N557fs			O43490	PROM1_HUMAN	prominin 1	566					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AGTGCCTCTATTTTTTTTGCA	0.428																																						ENST00000505450.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						c.(1669-1671)atfs		prominin 1							189.0	187.0	188.0					4																	15995680		1901	4120	6021	SO:0001589	frameshift_variant	8842				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	g.chr4:15995680delT	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.1697delA	4.37:g.15995680delT	ENSP00000426809:p.Asn566fs					PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs	p.N557fs	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN			15	2282	-			566					Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Frame_Shift_Del	DEL	ENST00000510224.1	37	c.1670delA	CCDS47029.1																																																																																				0.428	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017		7	287						7	287	---	---	---	---
RPL9	6133	broad.mit.edu	37	4	39462464	39462464	+	5'Flank	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:39462464delA	ENST00000449470.2	-	0	0				LIAS_ENST00000261434.3_Frame_Shift_Del_p.K36fs|LIAS_ENST00000340169.2_Frame_Shift_Del_p.K36fs|LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000381846.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000513731.1_Frame_Shift_Del_p.K36fs|RPL9_ENST00000295955.9_5'Flank	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN	ribosomal protein L9						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.K36fs*31(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						CTTGCCAGATAAAAAAAAGGA	0.393																																						ENST00000261434.3																			1	Deletion - Frameshift(1)	p.K36fs*31(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12						c.(100-102)aafs		lipoic acid synthetase	Lipoic Acid(DB00166)						107.0	120.0	115.0					4																	39462464		2203	4300	6503	SO:0001631	upstream_gene_variant	11019				inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding	g.chr4:39462464delA	D14531	CCDS3452.1	4p13	2011-04-06			ENSG00000163682	ENSG00000163682		"""L ribosomal proteins"""	10369	protein-coding gene	gene with protein product		603686				8597601, 8415001	Standard	XM_005262661		Approved	L9	uc021sso.1	P32969	OTTHUMG00000099367		4.37:g.39462464delA	Exception_encountered					LIAS_ENST00000381846.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000340169.2_Frame_Shift_Del_p.K36fs|LIAS_ENST00000513731.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000515061.1_3'UTR	p.K36fs	NM_006859.2	NP_006850.2	O43766	LIAS_HUMAN			2	218	+			36						Frame_Shift_Del	DEL	ENST00000449470.2	37	c.100delA	CCDS3452.1																																																																																				0.393	RPL9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361018.1			7	745						7	745	---	---	---	---
CLOCK	9575	broad.mit.edu	37	4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:56304530_56304532delCTG	ENST00000309964.4	-	21	2528_2530	c.2278_2280delCAG	c.(2278-2280)cagdel	p.Q760del	CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	760	Gln-rich.|Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512																																						ENST00000309964.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2278-2280)del		clock circadian regulator																																				SO:0001651	inframe_deletion	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56304530_56304532delCTG	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.2278_2280delCAG	4.37:g.56304539_56304541delCTG	ENSP00000308741:p.Gln760del					CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del	p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		21	2528_2530	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		760			Gln-rich.		A0AV01|A2I2N9|O14516|Q9UIT8	In_Frame_Del	DEL	ENST00000309964.4	37	c.2278_2280delCAG	CCDS3500.1																																																																																				0.512	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		7	265						7	265	---	---	---	---
AFF1	4299	broad.mit.edu	37	4	87968372	87968372	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:87968372delC	ENST00000307808.6	+	3	1084	c.664delC	c.(664-666)cccfs	p.P222fs	AFF1_ENST00000395146.4_Frame_Shift_Del_p.P229fs|AFF1_ENST00000544085.1_Intron	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	222					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GCAAACTCTTCCCCGGACGCA	0.512																																						ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(664-666)ccfs		AF4/FMR2 family, member 1							133.0	133.0	133.0					4																	87968372		2203	4300	6503	SO:0001589	frameshift_variant	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:87968372delC	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.664delC	4.37:g.87968372delC	ENSP00000305689:p.Pro222fs					AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Frame_Shift_Del_p.P229fs	p.P222fs	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	3	1084	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	222					B4DTU1|E9PBM3	Frame_Shift_Del	DEL	ENST00000307808.6	37	c.664delC	CCDS3616.1																																																																																				0.512	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		454	416						454	416	---	---	---	---
BRD9	65980	broad.mit.edu	37	5	889776	889777	+	Intron	INS	-	-	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:889776_889777insA	ENST00000467963.1	-	4	567				TRIP13_ENST00000166345.3_5'Flank|BRD9_ENST00000483173.1_Intron|BRD9_ENST00000435709.2_Frame_Shift_Ins_p.F13fs|BRD9_ENST00000388890.4_Frame_Shift_Ins_p.F13fs|BRD9_ENST00000323510.4_Frame_Shift_Ins_p.F13fs|BRD9_ENST00000494422.1_5'Flank	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			ACAATTTAAGGAAAAAAAAATT	0.446																																						ENST00000323510.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29						c.(37-39)tctfs		bromodomain containing 9			,	2,4262		0,2,2130					,	-1.5	0.0			96	1,8253		0,1,4126	no	intron,intron	BRD9	NM_023924.4,NM_001009877.2	,	0,3,6256	A1A1,A1R,RR		0.0121,0.0469,0.024	,	,		3,12515				SO:0001627	intron_variant	65980						nucleic acid binding	g.chr5:889776_889777insA	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.401-14->T	5.37:g.889785_889785dupA						BRD9_ENST00000483173.1_Intron|BRD9_ENST00000435709.2_Frame_Shift_Ins_p.S13fs|BRD9_ENST00000467963.1_Intron|BRD9_ENST00000388890.4_Frame_Shift_Ins_p.S13fs	p.S13fs			Q9H8M2	BRD9_HUMAN	Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)		1	37_38	-			0					A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Frame_Shift_Ins	INS	ENST00000467963.1	37	c.38_39insT	CCDS34127.2																																																																																				0.446	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924		7	647						7	647	---	---	---	---
IRX4	50805	broad.mit.edu	37	5	1879669	1879671	+	In_Frame_Del	DEL	CCT	CCT	-	rs561786759|rs369060686|rs200684951		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:1879669_1879671delCCT	ENST00000505790.1	-	5	1139_1141	c.683_685delAGG	c.(682-687)gagggg>ggg	p.E228del	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_In_Frame_Del_p.E228del|IRX4_ENST00000513692.1_In_Frame_Del_p.E228del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	228	Poly-Glu.				establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcctcgcccccctcctcctcctc	0.685																																						ENST00000505790.1																			0				endometrium(1)|lung(7)|ovary(1)|prostate(1)	10						c.(682-687)ggg>g		iroquois homeobox 4																																				SO:0001651	inframe_deletion	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1879669_1879671delCCT	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.683_685delAGG	5.37:g.1879678_1879680delCCT	ENSP00000423161:p.Glu228del					IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del|IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del	p.EG228del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	5	1139_1141	-			228			Poly-Glu.		B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	In_Frame_Del	DEL	ENST00000505790.1	37	c.683_685delAGG	CCDS3867.1																																																																																				0.685	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		7	472						7	472	---	---	---	---
PAPD7	11044	broad.mit.edu	37	5	6755013	6755014	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:6755013_6755014delAC	ENST00000230859.6	+	13	1713_1714	c.1584_1585delAC	c.(1582-1587)aaacacfs	p.H529fs		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	759					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAGGAAAAAACACACACACAC	0.653																																					NSCLC(7;212 333 5667 23379 46547)	ENST00000230859.6																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1582-1587)aaacfs		PAP associated domain containing 7																																				SO:0001589	frameshift_variant	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6755013_6755014delAC	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.1584_1585delAC	5.37:g.6755023_6755024delAC	ENSP00000230859:p.His529fs						p.KH528fs	NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN			13	1713_1714	+			528					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Frame_Shift_Del	DEL	ENST00000230859.6	37	c.1584_1585delAC	CCDS3871.1																																																																																				0.653	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		12	502						12	502	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24492973	24492973	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:24492973delA	ENST00000264463.4	-	10	2084	c.1577delT	c.(1576-1578)ttcfs	p.F526fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTAAACTGAAAAAAAATTT	0.313										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(1576-1578)tcfs		cadherin 10, type 2 (T2-cadherin)							170.0	183.0	179.0					5																	24492973		2203	4298	6501	SO:0001589	frameshift_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24492973delA	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1577delT	5.37:g.24492973delA	ENSP00000264463:p.Phe526fs	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.F526fs	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	10	2084	-			526			Cadherin 5.		Q9ULB3	Frame_Shift_Del	DEL	ENST00000264463.4	37	c.1577delT	CCDS3892.1																																																																																				0.313	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		9	1945						9	1945	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32089279	32089279	+	Frame_Shift_Del	DEL	G	G	-	rs541027562		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:32089279delG	ENST00000438447.1	+	20	6113	c.5725delG	c.(5725-5727)gggfs	p.G1910fs	PDZD2_ENST00000282493.3_Frame_Shift_Del_p.G1910fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	1910					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGTGAAGGCTGGGGGGACGGA	0.577																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(5725-5727)ggfs		PDZ domain containing 2							85.0	89.0	88.0					5																	32089279		2203	4300	6503	SO:0001589	frameshift_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32089279delG	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.5725delG	5.37:g.32089279delG	ENSP00000402033:p.Gly1910fs					PDZD2_ENST00000282493.3_Frame_Shift_Del_p.G1910fs	p.G1910fs			O15018	PDZD2_HUMAN			20	6113	+			1910					Q9BXD4	Frame_Shift_Del	DEL	ENST00000438447.1	37	c.5725delG	CCDS34137.1																																																																																				0.577	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			8	1149						8	1149	---	---	---	---
SPEF2	79925	broad.mit.edu	37	5	35776458	35776458	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:35776458delA	ENST00000356031.3	+	29	4332	c.4178delA	c.(4177-4179)gaafs	p.E1393fs	SPEF2_ENST00000440995.2_Frame_Shift_Del_p.E1388fs|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_5'Flank	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1393					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAACTCATGGAAAAATGGCTT	0.348																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(4162-4164)gafs		sperm flagellar 2							152.0	144.0	147.0					5																	35776458		1820	4081	5901	SO:0001589	frameshift_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35776458delA	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.4178delA	5.37:g.35776458delA	ENSP00000348314:p.Glu1393fs					CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Frame_Shift_Del_p.E1393fs	p.E1388fs			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		29	4163	+	all_lung(31;7.56e-05)		1393					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Frame_Shift_Del	DEL	ENST00000356031.3	37	c.4163delA	CCDS43309.1																																																																																				0.348	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		7	1295						7	1295	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41004527	41004528	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:41004527_41004528insT	ENST00000399564.4	-	37	4564_4565	c.4114_4115insA	c.(4114-4116)atcfs	p.I1372fs	MROH2B_ENST00000506092.2_Frame_Shift_Ins_p.I927fs	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1372								p.I1372T(1)									CAGCTCCAGGATTTTTTTTAGA	0.436																																						ENST00000399564.4																			1	Substitution - Missense(1)	p.I1372T(1)	central_nervous_system(1)								c.(4114-4116)cctfs		maestro heat-like repeat family member 2B																																				SO:0001589	frameshift_variant	133558							g.chr5:41004527_41004528insT		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.4115dupA	5.37:g.41004535_41004535dupT	ENSP00000382476:p.Ile1372fs					MROH2B_ENST00000506092.2_Frame_Shift_Ins_p.P927fs	p.P1372fs	NM_173489.4	NP_775760.3					37	4564_4565	-								Q68DM1|Q7Z4U4|Q8N7X3	Frame_Shift_Ins	INS	ENST00000399564.4	37	c.4114_4115insA	CCDS47202.1																																																																																				0.436	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		7	1080						7	1080	---	---	---	---
ANKHD1	54882	broad.mit.edu	37	5	139905676	139905676	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:139905676delA	ENST00000360839.2	+	26	4742	c.4588delA	c.(4588-4590)aaafs	p.K1531fs	ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs|ANKHD1_ENST00000544120.1_5'Flank|SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000297183.6_Frame_Shift_Del_p.K1531fs	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1531						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGTTTGGGAAAAAAAGGGC	0.423																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(4588-4590)aafs		ankyrin repeat and KH domain containing 1							133.0	145.0	141.0					5																	139905676		2203	4300	6503	SO:0001589	frameshift_variant	54882							g.chr5:139905676delA	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.4588delA	5.37:g.139905676delA	ENSP00000354085:p.Lys1531fs					ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.K1531fs|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs	p.K1531fs	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		26	4712	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Frame_Shift_Del	DEL	ENST00000360839.2	37	c.4588delA	CCDS4225.1																																																																																				0.423	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		8	521						8	521	---	---	---	---
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212|rs368069269	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2																			1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)del		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del						p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480		10	445						10	445	---	---	---	---
RBM24	221662	broad.mit.edu	37	6	17292126	17292128	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:17292126_17292128delGCT	ENST00000379052.5	+	4	723_725	c.487_489delGCT	c.(487-489)gctdel	p.A172del	RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000318204.5_In_Frame_Del_p.A127del|RBM24_ENST00000425446.2_In_Frame_Del_p.A114del	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	172	Ala-rich.				cell differentiation (GO:0030154)|regulation of mRNA stability (GO:0043488)|regulation of myotube differentiation (GO:0010830)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			ATACTCAGCAgctgctgctgctg	0.606																																						ENST00000379052.5																			0				endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13						c.(487-489)del		RNA binding motif protein 24																																				SO:0001651	inframe_deletion	221662				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding	g.chr6:17292126_17292128delGCT	BC040928	CCDS4538.1, CCDS47378.1, CCDS47379.1	6p22.3	2013-02-12	2004-04-23	2004-04-23	ENSG00000112183	ENSG00000112183		"""RNA binding motif (RRM) containing"""	21539	protein-coding gene	gene with protein product			"""RNA-binding region (RNP1, RRM) containing 6"""	RNPC6			Standard	NM_153020		Approved	FLJ30829, dJ259A10.1	uc003nbz.4	Q9BX46	OTTHUMG00000014306	ENST00000379052.5:c.487_489delGCT	6.37:g.17292135_17292137delGCT	ENSP00000368341:p.Ala172del					RBM24_ENST00000318204.5_In_Frame_Del_p.A127del|RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000425446.2_In_Frame_Del_p.A114del	p.A172del	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	all cancers(50;0.131)|Epithelial(50;0.15)		4	723_725	+	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	172			Ala-rich.		E9PAY4|Q6QDA4|Q8N9D3|Q96NI3	In_Frame_Del	DEL	ENST00000379052.5	37	c.487_489delGCT	CCDS47378.1																																																																																				0.606	RBM24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039946.2	NM_153020		10	494						10	494	---	---	---	---
DEK	7913	broad.mit.edu	37	6	18264079	18264081	+	In_Frame_Del	DEL	TCC	TCC	-	rs377513079		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:18264079_18264081delTCC	ENST00000397239.3	-	2	585_587	c.138_140delGGA	c.(136-141)gaggaa>gaa	p.46_47EE>E	DEK_ENST00000244776.7_In_Frame_Del_p.46_47EE>E	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	46	Asp/Glu-rich (highly acidic).				chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			CCCACCTTTTtcctcctcctcct	0.532			T	NUP214	AML																																	ENST00000397239.3				Dom	yes		6	6p23	7913	T	DEK oncogene (DNA binding)			L	NUP214		AML		0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(136-141)gaa>ga		DEK oncogene			,	77,1,4184		12,0,53,0,1,2065					,	-0.3	1.0			50	90,5,8159		17,0,56,0,5,4049	no	codingComplex,codingComplex	DEK	NM_003472.3,NM_001134709.1	,	29,0,109,0,6,6114	A1A1,A1A2,A1R,A2A2,A2R,RR		1.151,1.8301,1.3822	,	,		167,6,12343				SO:0001651	inframe_deletion	7913				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding	g.chr6:18264079_18264081delTCC	X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"""DEK oncogene (DNA binding)"", ""DEK oncogene"""			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.138_140delGGA	6.37:g.18264088_18264090delTCC	ENSP00000380414:p.Glu47del					DEK_ENST00000244776.7_In_Frame_Del_p.EE46del	p.EE46del	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)		2	585_587	-	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	46			Asp/Glu-rich (highly acidic).		B2R6K6|B4DN37|Q5TGV4|Q5TGV5	In_Frame_Del	DEL	ENST00000397239.3	37	c.138_140delGGA	CCDS34344.1																																																																																				0.532	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039962.4			10	397						10	397	---	---	---	---
GABBR1	2550	broad.mit.edu	37	6	29573436	29573438	+	In_Frame_Del	DEL	CAG	CAG	-	rs368201041		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:29573436_29573438delCAG	ENST00000377034.4	-	20	2682_2684	c.2347_2349delCTG	c.(2347-2349)ctgdel	p.L783del	GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del|GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000376977.3_3'UTR	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	783					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.L783M(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	GGAAGATTCCCAGCAGCAGCAGC	0.512																																						ENST00000377034.4																			1	Substitution - Missense(1)	p.L783M(1)	kidney(1)	endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2347-2349)del		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)																																			SO:0001651	inframe_deletion	0				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29573436_29573438delCAG	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.2347_2349delCTG	6.37:g.29573445_29573447delCAG	ENSP00000366233:p.Leu783del					GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del|GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000376977.3_3'UTR	p.L783del	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN			20	2682_2684	-			783					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	In_Frame_Del	DEL	ENST00000377034.4	37	c.2347_2349delCTG	CCDS4663.1																																																																																				0.512	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			7	519						7	519	---	---	---	---
CYP21A1P	1590	broad.mit.edu	37	6	31975223	31975224	+	5'Flank	INS	-	-	T	rs369404825		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:31975223_31975224insT	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							CTGGGCCGTGGTTTTTTTTGCT	0.614																																						ENST00000342991.6																			0																																																	SO:0001631	upstream_gene_variant	0						electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr6:31975223_31975224insT																													6.37:g.31975231_31975231dupT	Exception_encountered							NR_040090.1		Q5ST44	Q5ST44_HUMAN			0	1346_1347	+									RNA	INS	ENST00000594256.1	37																																																																																						0.614	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				8	936						8	936	---	---	---	---
TTK	7272	broad.mit.edu	37	6	80751896	80751897	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:80751896_80751897insA	ENST00000369798.2	+	22	2662_2663	c.2551_2552insA	c.(2551-2553)gaafs	p.E851fs	TTK_ENST00000509894.1_Frame_Shift_Ins_p.E850fs|TTK_ENST00000230510.3_Frame_Shift_Ins_p.E850fs	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	851					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CAAGACTTTTGAAAAAAAAAGG	0.302																																						ENST00000509894.1																			6	Deletion - Frameshift(5)|Insertion - Frameshift(1)	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)	stomach(2)|ovary(2)|lung(1)|large_intestine(1)	endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(2548-2550)aaafs		TTK protein kinase																																				SO:0001589	frameshift_variant	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80751896_80751897insA		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2560dupA	6.37:g.80751905_80751905dupA	ENSP00000358813:p.Glu851fs					TTK_ENST00000230510.3_Frame_Shift_Ins_p.K850fs|TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs	p.K850fs			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	22	3377_3378	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	851					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Frame_Shift_Ins	INS	ENST00000369798.2	37	c.2548_2549insA	CCDS4993.1																																																																																				0.302	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			14	410						14	410	---	---	---	---
C6orf165	154313	broad.mit.edu	37	6	88144700	88144700	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:88144700delA	ENST00000507897.1	+	11	1506	c.1423delA	c.(1423-1425)aaafs	p.K476fs	C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	476										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAAAAGGCCAAAAAAAATAC	0.269																																						ENST00000507897.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1423-1425)aafs		chromosome 6 open reading frame 165				30,4226		8,14,2106	58.0	61.0	60.0			0.1	1.0	6		61	63,8181		22,19,4081	no	frameshift	C6orf165	NM_001031743.2		30,33,6187	A1A1,A1R,RR		0.7642,0.7049,0.744			88144700	93,12407	2202	4295	6497	SO:0001589	frameshift_variant	154313							g.chr6:88144700delA	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1423delA	6.37:g.88144700delA	ENSP00000426769:p.Lys476fs					C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs	p.K476fs			Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	11	1506	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	476					A8K969|E1P507|Q8N9U4	Frame_Shift_Del	DEL	ENST00000507897.1	37	c.1423delA	CCDS34498.1																																																																																				0.269	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		8	465						8	465	---	---	---	---
GABRR2	2570	broad.mit.edu	37	6	89975427	89975429	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	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			9	422						9	422	---	---	---	---
CCDC28A	25901	broad.mit.edu	37	6	139097330	139097330	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:139097330delA	ENST00000332797.6	+	2	498	c.343delA	c.(343-345)aaafs	p.K116fs		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	116								p.N117fs*5(2)		autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TGTCAATGCCAAAAAAAATGC	0.413																																						ENST00000332797.6																			2	Deletion - Frameshift(2)	p.N117fs*5(2)	large_intestine(2)	autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13						c.(343-345)aafs		coiled-coil domain containing 28A							112.0	108.0	109.0					6																	139097330		2203	4300	6503	SO:0001589	frameshift_variant	25901							g.chr6:139097330delA	AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"""chromosome 6 open reading frame 80"""	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.343delA	6.37:g.139097330delA	ENSP00000332716:p.Lys116fs						p.K116fs	NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)	2	498	+			116					E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Frame_Shift_Del	DEL	ENST00000332797.6	37	c.343delA	CCDS5192.1																																																																																				0.413	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1	NM_015439		16	472						16	472	---	---	---	---
SHPRH	257218	broad.mit.edu	37	6	146264834	146264836	+	In_Frame_Del	DEL	ATC	ATC	-	rs561556028		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:146264834_146264836delATC	ENST00000367505.2	-	9	1945_1947	c.1681_1683delGAT	c.(1681-1683)gatdel	p.D561del	SHPRH_ENST00000275233.7_In_Frame_Del_p.D561del|SHPRH_ENST00000367503.3_In_Frame_Del_p.D561del|SHPRH_ENST00000438092.2_In_Frame_Del_p.D561del			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	561					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AATAGTAAGGATCATCATCATCA	0.36																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(1681-1683)del		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146264834_146264836delATC	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1681_1683delGAT	6.37:g.146264843_146264845delATC	ENSP00000356475:p.Asp561del					SHPRH_ENST00000367505.2_In_Frame_Del_p.D561del|SHPRH_ENST00000275233.7_In_Frame_Del_p.D561del|SHPRH_ENST00000438092.2_In_Frame_Del_p.D561del	p.D561del	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	9	2079_2081	-		Ovarian(120;0.0365)	561					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	In_Frame_Del	DEL	ENST00000367505.2	37	c.1681_1683delGAT	CCDS43513.2																																																																																				0.360	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		9	543						9	543	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146755630	146755632	+	In_Frame_Del	DEL	GAC	GAC	-	rs568155311		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:146755630_146755632delGAC	ENST00000282753.1	+	8	3518_3520	c.3283_3285delGAC	c.(3283-3285)gacdel	p.D1099del	GRM1_ENST00000361719.2_In_Frame_Del_p.D1099del|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1099	Asp/Glu-rich (acidic).				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CCCGCCCGCGGACGACGACGACG	0.65																																						ENST00000361719.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(3283-3285)del		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)																																			SO:0001651	inframe_deletion	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755630_146755632delGAC	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3283_3285delGAC	6.37:g.146755639_146755641delGAC	ENSP00000282753:p.Asp1099del					GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.D1099del|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR	p.D1099del	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3753_3755	+		Ovarian(120;0.0387)	1099			Asp/Glu-rich (acidic).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	In_Frame_Del	DEL	ENST00000282753.1	37	c.3283_3285delGAC	CCDS5209.1																																																																																				0.650	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		9	781						9	781	---	---	---	---
PLEKHG1	57480	broad.mit.edu	37	6	151161016	151161017	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:151161016_151161017delAG	ENST00000358517.2	+	16	3353_3354	c.3142_3143delAG	c.(3142-3144)agafs	p.R1048fs	PLEKHG1_ENST00000367328.1_Frame_Shift_Del_p.R1048fs			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1048							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GATTGTATTCAGAGAGTCTCCC	0.475																																						ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(3142-3144)afs		pleckstrin homology domain containing, family G (with RhoGef domain) member 1																																				SO:0001589	frameshift_variant	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151161016_151161017delAG	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.3142_3143delAG	6.37:g.151161020_151161021delAG	ENSP00000351318:p.Arg1048fs					PLEKHG1_ENST00000358517.2_Frame_Shift_Del_p.R1048fs	p.R1048fs	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	17	3454_3455	+			1048					Q5T1F2	Frame_Shift_Del	DEL	ENST00000358517.2	37	c.3142_3143delAG	CCDS34552.1																																																																																				0.475	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			209	345						209	345	---	---	---	---
NOX3	50508	broad.mit.edu	37	6	155743925	155743926	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:155743925_155743926delCA	ENST00000159060.2	-	10	1312_1313	c.1210_1211delTG	c.(1210-1212)tgcfs	p.C404fs		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	404					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CGCGGCAACGCACACACACACT	0.53																																						ENST00000159060.2																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(1210-1212)cfs		NADPH oxidase 3																																				SO:0001589	frameshift_variant	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155743925_155743926delCA	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1210_1211delTG	6.37:g.155743933_155743934delCA	ENSP00000159060:p.Cys404fs						p.C404fs	NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	10	1312_1313	-		Breast(66;0.0183)	404					Q9HBJ9	Frame_Shift_Del	DEL	ENST00000159060.2	37	c.1210_1211delTG	CCDS5250.1																																																																																				0.530	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			8	910						8	910	---	---	---	---
SYNJ2	8871	broad.mit.edu	37	6	158508009	158508009	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:158508009delC	ENST00000355585.4	+	23	3406	c.3331delC	c.(3331-3333)cccfs	p.P1114fs	SYNJ2_ENST00000367112.1_Frame_Shift_Del_p.P199fs|SYNJ2_ENST00000367122.2_Intron|SYNJ2_ENST00000367121.3_Frame_Shift_Del_p.P1114fs	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1114	Pro-rich.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.P1113fs*5(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CCCGCAGAGACCCCCCCCTCC	0.637																																						ENST00000355585.4																			1	Deletion - Frameshift(1)	p.P1113fs*5(1)	large_intestine(1)	biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(3331-3333)ccfs		synaptojanin 2							31.0	35.0	34.0					6																	158508009		2203	4300	6503	SO:0001589	frameshift_variant	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158508009delC	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3331delC	6.37:g.158508009delC	ENSP00000347792:p.Pro1114fs					SYNJ2_ENST00000367112.1_Frame_Shift_Del_p.P199fs|SYNJ2_ENST00000367122.2_Intron|SYNJ2_ENST00000367121.3_Frame_Shift_Del_p.P1114fs	p.P1114fs	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	23	3406	+			1114			Pro-rich.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Frame_Shift_Del	DEL	ENST00000355585.4	37	c.3331delC	CCDS5254.1																																																																																				0.637	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			7	396						7	396	---	---	---	---
FNDC1	84624	broad.mit.edu	37	6	159655079	159655081	+	In_Frame_Del	DEL	GAC	GAC	-	rs547492676	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:159655079_159655081delGAC	ENST00000297267.9	+	11	3735_3737	c.3535_3537delGAC	c.(3535-3537)gacdel	p.D1180del	FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1180			D -> E (in dbSNP:rs420054). {ECO:0000269|PubMed:11347906, ECO:0000269|PubMed:15489334}.		cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTCAGCCGAGGACGACGAGGAGG	0.65																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(3535-3537)del		fibronectin type III domain containing 1																																				SO:0001651	inframe_deletion	84624					extracellular region		g.chr6:159655079_159655081delGAC	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.3535_3537delGAC	6.37:g.159655082_159655084delGAC	ENSP00000297267:p.Asp1180del					FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	p.D1180del	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	3735_3737	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1180		D -> E (in dbSNP:rs420054).			A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	In_Frame_Del	DEL	ENST00000297267.9	37	c.3535_3537delGAC	CCDS47512.1																																																																																				0.650	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		7	157						7	157	---	---	---	---
MLLT4	4301	broad.mit.edu	37	6	168317900	168317900	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:168317900delT	ENST00000447894.2	+	19	2676	c.2676delT	c.(2674-2676)cctfs	p.P892fs	MLLT4_ENST00000392108.3_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000366806.2_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000344191.4_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000392112.1_Frame_Shift_Del_p.P876fs|MLLT4_ENST00000351017.4_Frame_Shift_Del_p.P899fs|MLLT4_ENST00000400822.3_Frame_Shift_Del_p.P891fs			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	892	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTGATGAGCCTTTTATCCCAA	0.398			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2674-2676)ccfs		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							177.0	166.0	170.0					6																	168317900		2203	4300	6503	SO:0001589	frameshift_variant	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168317900delT	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.2676delT	6.37:g.168317900delT	ENSP00000404595:p.Pro892fs					MLLT4_ENST00000351017.4_Frame_Shift_Del_p.P899fs|MLLT4_ENST00000447894.2_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000400822.3_Frame_Shift_Del_p.P891fs|MLLT4_ENST00000392112.1_Frame_Shift_Del_p.P876fs|MLLT4_ENST00000392108.3_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000344191.4_Frame_Shift_Del_p.P892fs	p.P892fs			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	19	2818	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	892			Dilute.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Frame_Shift_Del	DEL	ENST00000447894.2	37	c.2676delT																																																																																					0.398	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		9	882						9	882	---	---	---	---
STK31	56164	broad.mit.edu	37	7	23775341	23775341	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:23775341delA	ENST00000355870.3	+	7	787	c.668delA	c.(667-669)gaafs	p.E223fs	STK31_ENST00000428484.1_Frame_Shift_Del_p.E200fs|STK31_ENST00000433467.2_Frame_Shift_Del_p.E223fs|STK31_ENST00000354639.3_Frame_Shift_Del_p.E200fs|STK31_ENST00000405627.3_3'UTR	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	223						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.E223V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATCTGTGAGGAAAAAAAATTG	0.473																																						ENST00000354639.3																			1	Substitution - Missense(1)	p.E223V(1)	kidney(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(598-600)gafs		serine/threonine kinase 31			,,	10,4254		5,0,2127	102.0	100.0	101.0		,,	4.3	1.0	7		102	11,8243		5,1,4121	no	frameshift,frameshift,frameshift	STK31	NM_032944.2,NM_031414.3,NM_001122833.1	,,	10,1,6248	A1A1,A1R,RR		0.1333,0.2345,0.1678	,,	,,	23775341	21,12497	2203	4300	6503	SO:0001589	frameshift_variant	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23775341delA	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.668delA	7.37:g.23775341delA	ENSP00000348132:p.Glu223fs					STK31_ENST00000428484.1_Frame_Shift_Del_p.E200fs|STK31_ENST00000355870.3_Frame_Shift_Del_p.E223fs|STK31_ENST00000433467.2_Frame_Shift_Del_p.E223fs|STK31_ENST00000405627.3_3'UTR	p.E200fs	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			7	1063	+			223					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Frame_Shift_Del	DEL	ENST00000355870.3	37	c.599delA	CCDS5386.1																																																																																				0.473	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		8	548						8	548	---	---	---	---
C7orf25	79020	broad.mit.edu	37	7	42949523	42949524	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:42949523_42949524delCT	ENST00000350427.4	-	2	1251_1252	c.976_977delAG	c.(976-978)aggfs	p.R326fs	C7orf25_ENST00000431882.2_Frame_Shift_Del_p.R384fs|C7orf25_ENST00000447342.1_Frame_Shift_Del_p.R326fs|C7orf25_ENST00000438029.1_Frame_Shift_Del_p.R326fs|PSMA2_ENST00000442788.1_3'UTR			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	326								p.R326fs*6(1)		endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CACAGTGGCCCTCTCTCTCTCC	0.455																																						ENST00000350427.4																			1	Deletion - Frameshift(1)	p.R326fs*6(1)	large_intestine(1)	endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						c.(976-978)gfs		chromosome 7 open reading frame 25																																				SO:0001589	frameshift_variant	79020							g.chr7:42949523_42949524delCT	BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.976_977delAG	7.37:g.42949531_42949532delCT	ENSP00000343364:p.Arg326fs					C7orf25_ENST00000447342.1_Frame_Shift_Del_p.R326fs|C7orf25_ENST00000438029.1_Frame_Shift_Del_p.R326fs|C7orf25_ENST00000431882.2_Frame_Shift_Del_p.R384fs|PSMA2_ENST00000442788.1_3'UTR	p.R326fs			Q9BPX7	CG025_HUMAN			2	1251_1252	-			326					A4D1V2|J3KR36|Q9H779	Frame_Shift_Del	DEL	ENST00000350427.4	37	c.976_977delAG	CCDS5466.1																																																																																				0.455	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	NM_024054		8	625						8	625	---	---	---	---
PURB	5814	broad.mit.edu	37	7	44924131	44924131	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:44924131delA	ENST00000395699.2	-	1	829	c.817delT	c.(817-819)tgcfs	p.C273fs	RP4-673M15.1_ENST00000608450.1_RNA|MIR4657_ENST00000578157.1_RNA	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	273					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of myeloid cell differentiation (GO:0045637)|transcription, DNA-templated (GO:0006351)	DNA replication factor A complex (GO:0005662)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						GCATACCGGCAAAAGGCGCCT	0.582																																						ENST00000395699.2																			0				large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						c.(817-819)gcfs		purine-rich element binding protein B							95.0	104.0	101.0					7																	44924131		2203	4300	6503	SO:0001589	frameshift_variant	5814				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding	g.chr7:44924131delA		CCDS5499.1	7p13	2008-07-18			ENSG00000146676	ENSG00000146676			9702	protein-coding gene	gene with protein product		608887				1448097	Standard	NM_033224		Approved	PURBETA	uc003tme.3	Q96QR8	OTTHUMG00000023578	ENST00000395699.2:c.817delT	7.37:g.44924131delA	ENSP00000379051:p.Cys273fs						p.C273fs	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN			1	829	-			273					A4D2L7	Frame_Shift_Del	DEL	ENST00000395699.2	37	c.817delT	CCDS5499.1																																																																																				0.582	PURB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251332.2	NM_033224		9	1046						9	1046	---	---	---	---
MEPCE	56257	broad.mit.edu	37	7	100028823	100028825	+	In_Frame_Del	DEL	CCA	CCA	-	rs71555278		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:100028823_100028825delCCA	ENST00000310512.2	+	1	1570_1572	c.1182_1184delCCA	c.(1180-1185)cgccac>cgc	p.H399del	ZCWPW1_ENST00000398027.2_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank|MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000324725.6_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	399					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGGAGGCCGCCACCACCACCAC	0.581																																						ENST00000310512.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1180-1185)cgc>cg		methylphosphate capping enzyme																																				SO:0001651	inframe_deletion	56257						methyltransferase activity	g.chr7:100028823_100028825delCCA	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"""bin3, bicoid-interacting 3, homolog (Drosophila)"""	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.1182_1184delCCA	7.37:g.100028832_100028834delCCA	ENSP00000308546:p.His399del					MEPCE_ENST00000414441.1_5'UTR	p.RH394del	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			1	1570_1572	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		394					B3KP86|D6W5V7|Q9NPD4	In_Frame_Del	DEL	ENST00000310512.2	37	c.1182_1184delCCA	CCDS5693.1																																																																																				0.581	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			13	474						13	474	---	---	---	---
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs56831387|rs112413030|rs76614416	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101									T cell receptor beta variable 29-1																		GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457														1983	0.395966	0.3812	0.5187	5008	,	,		21381	0.2222		0.5974	False		,,,				2504	0.3006					ENST00000422143.2																			0																	1374,2160		346,682,739						1.6	0.0		dbSNP_129	48	4141,3571		1278,1585,993	no	intergenic				1624,2267,1732	A1A1,A1R,RR		46.3045,38.8795,49.0397				5515,5731						0							g.chr7:142448200_142448207delGGTGGAAA	L36092		7q34	2012-02-07			ENSG00000232869	ENSG00000232869		"""T cell receptors / TRB locus"""	12210	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV291, TCRBV29S1, TCRBV4S1A1T			OTTHUMG00000158898		7.37:g.142448208_142448215delGGTGGAAA														0	101	+									RNA	DEL	ENST00000422143.2	37																																																																																						0.457	TRBV29-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352510.1	NG_001333		18	38						18	38	---	---	---	---
PRSS3P2	154754	broad.mit.edu	37	7	142481923	142481925	+	RNA	DEL	CAA	CAA	-	rs201697815		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:142481923_142481925delCAA	ENST00000603901.1	+	0	591					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)										GTGATTAGACCAACCCTTCCCAT	0.537																																						ENST00000603901.1																			0																																																			0							g.chr7:142481923_142481925delCAA			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481923_142481925delCAA								NR_001296.3						0	591	+									RNA	DEL	ENST00000603901.1	37																																																																																						0.537	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		27	215						27	215	---	---	---	---
EPHB6	2051	broad.mit.edu	37	7	142562309	142562309	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:142562309delG	ENST00000392957.2	+	7	1538	c.751delG	c.(751-753)gggfs	p.G252fs	EPHB6_ENST00000442129.1_Frame_Shift_Del_p.G252fs|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	252	Cys-rich.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CAGTGGGGCTGGGGGGGCCTC	0.682																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(751-753)ggfs		EPH receptor B6				18,4178		1,16,2081	46.0	59.0	55.0			-4.1	1.0	7		55	39,8155		7,25,4065	no	frameshift	EPHB6	NM_004445.3		8,41,6146	A1A1,A1R,RR		0.476,0.429,0.46			142562309	57,12333	2188	4279	6467	SO:0001589	frameshift_variant	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142562309delG	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.751delG	7.37:g.142562309delG	ENSP00000376684:p.Gly252fs					EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Frame_Shift_Del_p.G252fs	p.G252fs	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			7	1538	+	Melanoma(164;0.059)		252			Cys-rich.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Frame_Shift_Del	DEL	ENST00000392957.2	37	c.751delG	CCDS5873.2																																																																																				0.682	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			7	920						7	920	---	---	---	---
DLC1	10395	broad.mit.edu	37	8	12957611	12957613	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:12957611_12957613delGCT	ENST00000276297.4	-	9	2642_2644	c.2233_2235delAGC	c.(2233-2235)agcdel	p.S745del	DLC1_ENST00000358919.2_In_Frame_Del_p.S308del|DLC1_ENST00000520226.1_In_Frame_Del_p.S234del|DLC1_ENST00000512044.2_In_Frame_Del_p.S342del	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	745	Focal adhesion-targeting (FAT).|Poly-Ser.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCTCCGACTGGCTGCTGCTGCTG	0.621																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2233-2235)del		deleted in liver cancer 1																																				SO:0001651	inframe_deletion	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957611_12957613delGCT	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2233_2235delAGC	8.37:g.12957620_12957622delGCT	ENSP00000276297:p.Ser745del					DLC1_ENST00000512044.2_In_Frame_Del_p.S342del|DLC1_ENST00000358919.2_In_Frame_Del_p.S308del|DLC1_ENST00000520226.1_In_Frame_Del_p.S234del	p.S745del	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2642_2644	-			745			Poly-Ser.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	In_Frame_Del	DEL	ENST00000276297.4	37	c.2233_2235delAGC	CCDS5989.1																																																																																				0.621	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		8	423						8	423	---	---	---	---
KAT6A	7994	broad.mit.edu	37	8	41798420	41798422	+	In_Frame_Del	DEL	CTC	CTC	-	rs139076845		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:41798420_41798422delCTC	ENST00000396930.3	-	16	3520_3522	c.2977_2979delGAG	c.(2977-2979)gagdel	p.E993del	KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del|KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	993	Poly-Glu.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GGCTTTCCGGCTCCTCCTCCTCC	0.567																																						ENST00000396930.3																			0											c.(2977-2979)del		K(lysine) acetyltransferase 6A																																				SO:0001651	inframe_deletion	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41798420_41798422delCTC	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2977_2979delGAG	8.37:g.41798429_41798431delCTC	ENSP00000380136:p.Glu993del					KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del|KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del	p.E993del	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			16	3520_3522	-			993			Poly-Glu.		Q76L81	In_Frame_Del	DEL	ENST00000396930.3	37	c.2977_2979delGAG	CCDS6124.1																																																																																				0.567	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		9	879						9	879	---	---	---	---
RUNX1T1	862	broad.mit.edu	37	8	92998419	92998419	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:92998419delT	ENST00000523629.1	-	9	1666	c.1212delA	c.(1210-1212)aaafs	p.K404fs	RUNX1T1_ENST00000436581.2_Frame_Shift_Del_p.K415fs|RUNX1T1_ENST00000360348.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000265814.3_Frame_Shift_Del_p.K404fs|RUNX1T1_ENST00000422361.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000518844.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000520724.1_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000396218.1_Frame_Shift_Del_p.K377fs	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	404					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGCCGCCACCTTTTTTTAAGT	0.517																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(1210-1212)aafs		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							96.0	103.0	101.0					8																	92998419		2203	4300	6503	SO:0001589	frameshift_variant	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92998419delT	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1212delA	8.37:g.92998419delT	ENSP00000428543:p.Lys404fs					RUNX1T1_ENST00000518844.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000422361.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000520724.1_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000436581.2_Frame_Shift_Del_p.K415fs|RUNX1T1_ENST00000396218.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000360348.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000265814.3_Frame_Shift_Del_p.K404fs	p.K404fs	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		9	1666	-			404					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Frame_Shift_Del	DEL	ENST00000523629.1	37	c.1212delA	CCDS6256.1																																																																																				0.517	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		8	855						8	855	---	---	---	---
RANBP6	26953	broad.mit.edu	37	9	6012690	6012690	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:6012690delT	ENST00000259569.5	-	1	2928	c.2918delA	c.(2917-2919)aatfs	p.N973fs	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	973					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.N973fs*12(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AGCAATGACATTTTTTTTGGT	0.358																																						ENST00000259569.5																			1	Deletion - Frameshift(1)	p.N973fs*12(1)	ovary(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2917-2919)atfs		RAN binding protein 6							109.0	102.0	104.0					9																	6012690		2203	4300	6503	SO:0001589	frameshift_variant	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6012690delT	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2918delA	9.37:g.6012690delT	ENSP00000259569:p.Asn973fs						p.N973fs	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	2928	-		Acute lymphoblastic leukemia(23;0.158)	973					Q5T7X4|Q7Z3V2|Q96E78	Frame_Shift_Del	DEL	ENST00000259569.5	37	c.2918delA	CCDS6467.1																																																																																				0.358	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		10	493						10	493	---	---	---	---
HRCT1	646962	broad.mit.edu	37	9	35906584	35906586	+	In_Frame_Del	DEL	CCA	CCA	-	rs143611048	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:35906584_35906586delCCA	ENST00000354323.2	+	1	396_398	c.300_302delCCA	c.(298-303)ctccac>ctc	p.H105del	LINC00961_ENST00000443779.1_lincRNA	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	105	His-rich.					integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						ctcaccacctccaccaccaccac	0.66														929	0.185503	0.1619	0.1268	5008	,	,		6334	0.3085		0.1213	False		,,,				2504	0.1984					ENST00000354323.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						c.(298-303)ctc>ct		histidine rich carboxyl terminus 1																																				SO:0001651	inframe_deletion	646962					integral to membrane		g.chr9:35906584_35906586delCCA		CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.300_302delCCA	9.37:g.35906593_35906595delCCA	ENSP00000346283:p.His105del						p.LH100del	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN			1	396_398	+			100			His-rich.		B7ZBJ1	In_Frame_Del	DEL	ENST00000354323.2	37	c.300_302delCCA	CCDS35012.1																																																																																				0.660	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334099.1	NM_001039792		7	149						7	149	---	---	---	---
COL27A1	85301	broad.mit.edu	37	9	116918267	116918269	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:116918267_116918269delGCG	ENST00000356083.3	+	1	428_430	c.37_39delGCG	c.(37-39)gcgdel	p.A18del		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	18					extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ccgaggcacagcggcggcggcgg	0.768																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(37-39)del		collagen, type XXVII, alpha 1				52,1722		7,38,842						1.8	1.0			10	106,4640		11,84,2278	no	coding	COL27A1	NM_032888.2		18,122,3120	A1A1,A1R,RR		2.2335,2.9312,2.4233				158,6362				SO:0001651	inframe_deletion	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116918267_116918269delGCG	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.37_39delGCG	9.37:g.116918276_116918278delGCG	ENSP00000348385:p.Ala18del						p.A18del	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			1	428_430	+			18					Q66K43|Q96JF7	In_Frame_Del	DEL	ENST00000356083.3	37	c.37_39delGCG	CCDS6802.1																																																																																				0.768	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		7	183						7	183	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)ctgdel	p.L221del	ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del			O75129	ASTN2_HUMAN	astrotactin 2	221					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(661-663)del		astrotactin 2																																				SO:0001651	inframe_deletion	23245					integral to membrane		g.chr9:119976989_119976991delCAG	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.661_663delCTG	9.37:g.119976998_119977000delCAG	ENSP00000314038:p.Leu221del					ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del	p.L221del			O75129	ASTN2_HUMAN			3	761_763	-			221					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	In_Frame_Del	DEL	ENST00000313400.4	37	c.661_663delCTG																																																																																					0.601	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		9	304						9	304	---	---	---	---
RABEPK	10244	broad.mit.edu	37	9	127996170	127996171	+	In_Frame_Ins	INS	-	-	AGA			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:127996170_127996171insAGA	ENST00000373538.3	+	8	1340_1341	c.1030_1031insAGA	c.(1030-1032)cag>cAGAag	p.344_345insK	RABEPK_ENST00000259460.8_In_Frame_Ins_p.293_294insK|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000394125.4_In_Frame_Ins_p.344_345insK	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	344					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						TGAGGAAAGCCAGACTGCTACA	0.436																																						ENST00000373538.3																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(1030-1032)gac>AGAgac		Rab9 effector protein with kelch motifs																																				SO:0001652	inframe_insertion	10244				receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane		g.chr9:127996170_127996171insAGA	BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.1031_1033dupAGA	9.37:g.127996171_127996173dupAGA	ENSP00000362639:p.Gln344_Thr345insLys					RABEPK_ENST00000394125.4_In_Frame_Ins_p.343_344insR|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000259460.8_In_Frame_Ins_p.292_293insR	p.343_344insR	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN			8	1340_1341	+			343					A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	In_Frame_Ins	INS	ENST00000373538.3	37	c.1030_1031insAGA	CCDS6862.1																																																																																				0.436	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054064.1	NM_005833		70	930						70	930	---	---	---	---
TSC1	7248	broad.mit.edu	37	9	135771988	135771990	+	In_Frame_Del	DEL	GCT	GCT	-	rs397514812|rs201192125	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:135771988_135771990delGCT	ENST00000298552.3	-	23	3348_3350	c.3127_3129delAGC	c.(3127-3129)agcdel	p.S1043del	TSC1_ENST00000545250.1_In_Frame_Del_p.S992del|TSC1_ENST00000440111.2_In_Frame_Del_p.S1043del	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	1043	Poly-Ser.		Missing (in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling). {ECO:0000269|PubMed:22161988}.		activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.S1043N(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TAGAAAGCTCgctgctgctgctg	0.64			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000298552.3			yes	Rec		Tuberous sclerosis 1	9	9q34	7248	"""D, Mis, N, F, S"""	tuberous sclerosis 1 gene			"""E, O"""		"""hamartoma, renal cell"""			2	Substitution - Missense(1)|Unknown(1)	p.S1043N(1)|p.?(1)	central_nervous_system(1)|bone(1)	NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65						c.(3127-3129)del		tuberous sclerosis 1																																				SO:0001651	inframe_deletion	0	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135771988_135771990delGCT	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.3127_3129delAGC	9.37:g.135771997_135771999delGCT	ENSP00000298552:p.Ser1043del					TSC1_ENST00000545250.1_In_Frame_Del_p.S992del|TSC1_ENST00000440111.2_In_Frame_Del_p.S1043del	p.S1043del	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	23	3348_3350	-			1043			Poly-Ser.		B7Z897|Q5VVN5	In_Frame_Del	DEL	ENST00000298552.3	37	c.3127_3129delAGC	CCDS6956.1																																																																																				0.640	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			7	314						7	314	---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137693829	137693829	+	Frame_Shift_Del	DEL	C	C	-	rs377265020		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:137693829delC	ENST00000371817.3	+	38	3396	c.2982delC	c.(2980-2982)ggcfs	p.G994fs		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	994	Triple-helical 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)	p.G997fs*17(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)		GCCCTCCAGGCCCCCCCGGCG	0.657																																						ENST00000371817.3																			1	Insertion - Frameshift(1)	p.G997fs*17(1)	large_intestine(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.(2980-2982)ggfs		collagen, type V, alpha 1							67.0	67.0	67.0					9																	137693829		2203	4299	6502	SO:0001589	frameshift_variant	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.chr9:137693829delC	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.2982delC	9.37:g.137693829delC	ENSP00000360882:p.Gly994fs						p.G994fs	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)	38	3396	+		Myeloproliferative disorder(178;0.0341)	994			Triple-helical region.		Q15094|Q5SUX4	Frame_Shift_Del	DEL	ENST00000371817.3	37	c.2982delC	CCDS6982.1																																																																																				0.657	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		8	588						8	588	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139390945	139390947	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:139390945_139390947delGTG	ENST00000277541.6	-	34	7319_7321	c.7244_7246delCAC	c.(7243-7248)ccacag>cag	p.P2415del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2415	Poly-Pro.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q2417*(2)|p.P2416fs*11(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGTGCGGCTGTGGTGGTGGTGG	0.65			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		3	Substitution - Nonsense(2)|Deletion - Frameshift(1)	p.Q2417*(2)|p.P2416fs*11(1)	haematopoietic_and_lymphoid_tissue(3)	breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(7243-7248)cag>c		notch 1																																				SO:0001651	inframe_deletion	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139390945_139390947delGTG	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.7244_7246delCAC	9.37:g.139390954_139390956delGTG	ENSP00000277541:p.Pro2415del	HNSCC(8;0.001)					p.PQ2415del	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	34	7319_7321	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	2415			Poly-Pro.		Q59ED8|Q5SXM3	In_Frame_Del	DEL	ENST00000277541.6	37	c.7244_7246delCAC	CCDS43905.1																																																																																				0.650	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		7	307						7	307	---	---	---	---
ZMYND19	116225	broad.mit.edu	37	9	140481541	140481542	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:140481541_140481542insC	ENST00000298585.2	-	4	462_463	c.236_237insG	c.(235-237)ggcfs	p.G79fs	ZMYND19_ENST00000471957.1_5'UTR	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	79						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synapse (GO:0045202)	metal ion binding (GO:0046872)	p.V80fs*34(2)		endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CCGGGGCCACGCCCCCCCGGTG	0.634																																						ENST00000298585.2																			2	Insertion - Frameshift(2)	p.V80fs*34(2)	large_intestine(2)	endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13						c.(235-237)ggtfs		zinc finger, MYND-type containing 19																																				SO:0001589	frameshift_variant	116225					Golgi apparatus|plasma membrane	zinc ion binding	g.chr9:140481541_140481542insC	BC012948	CCDS7048.1	9q34.3	2008-02-05			ENSG00000165724	ENSG00000165724		"""Zinc fingers, MYND-type"""	21146	protein-coding gene	gene with protein product		611424					Standard	NM_138462		Approved	MIZIP	uc004cno.1	Q96E35	OTTHUMG00000020992	ENST00000298585.2:c.237dupG	9.37:g.140481548_140481548dupC	ENSP00000298585:p.Gly79fs					ZMYND19_ENST00000471957.1_5'UTR	p.G79fs	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)	4	462_463	-	all_cancers(76;0.106)		79					Q5T366	Frame_Shift_Ins	INS	ENST00000298585.2	37	c.236_237insG	CCDS7048.1																																																																																				0.634	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055356.1	NM_138462		7	609						7	609	---	---	---	---
MYO3A	53904	broad.mit.edu	37	10	26462759	26462760	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:26462759_26462760insA	ENST00000265944.5	+	30	3732_3733	c.3566_3567insA	c.(3565-3570)ccaaaafs	p.PK1189fs	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1189					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.M1192fs*1(2)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TATCAGACTCCAAAAAAAATGA	0.401																																						ENST00000265944.5																			2	Deletion - Frameshift(2)	p.M1192fs*1(2)	ovary(1)|large_intestine(1)	NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(3565-3567)caafs		myosin IIIA																																				SO:0001589	frameshift_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26462759_26462760insA	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3574dupA	10.37:g.26462767_26462767dupA	ENSP00000265944:p.Pro1189fs					MYO3A_ENST00000543632.1_Intron	p.Q1189fs	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			30	3732_3733	+			1189					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Frame_Shift_Ins	INS	ENST00000265944.5	37	c.3566_3567insA	CCDS7148.1																																																																																				0.401	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		8	513						8	513	---	---	---	---
KIAA1462	57608	broad.mit.edu	37	10	30316501	30316503	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:30316501_30316503delCTG	ENST00000375377.1	-	3	2675_2677	c.2574_2576delCAG	c.(2572-2577)agcagt>agt	p.858_859SS>S		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	858	Ser-rich.				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						ACTCTCCTCActgctgctgctgc	0.571																																						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.(2572-2577)agt>ag		KIAA1462				16,121,147,3686		2,1,1,10,9,1,101,3,139,1718						-7.0	0.0			46	4,50,242,7744		0,0,1,3,0,0,50,8,225,3733	no	codingComplex	KIAA1462	NM_020848.2		2,1,2,13,9,1,151,11,364,5451	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		3.6816,7.1537,4.8293				20,171,389,11430				SO:0001651	inframe_deletion	57608							g.chr10:30316501_30316503delCTG	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.2574_2576delCAG	10.37:g.30316510_30316512delCTG	ENSP00000364526:p.Ser859del						p.SS858del	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	2675_2677	-			858			Ser-rich.		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	In_Frame_Del	DEL	ENST00000375377.1	37	c.2574_2576delCAG	CCDS41500.1																																																																																				0.571	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		26	821						26	821	---	---	---	---
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-	rs200468982	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENST00000448048.2	-	1	233_253	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gctggggacaggatggcaggagcg>gcg	p.36_43AGDRMAGA>A	AGAP4_ENST00000430779.2_5'UTR	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	36					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.G37_A43delGDRMAGA(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588																																						ENST00000448048.2																			1	Deletion - In frame(1)	p.G37_A43delGDRMAGA(1)	central_nervous_system(1)	central_nervous_system(1)|lung(1)|ovary(1)	3						c.(106-129)gcg>gc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 4				0,6		0,0,3						-2.8	0.0			1	28,40		13,2,19	no	coding	AGAP4	NM_133446.2		13,2,22	A1A1,A1R,RR		41.1765,0.0,37.8378				28,46				SO:0001651	inframe_deletion	119016				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	AF411132	CCDS7215.1	10q11.21	2014-06-19	2008-09-22	2008-09-22	ENSG00000188234	ENSG00000188234		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23459	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 1"", ""ArfGAP with GTPase domain, ankyrin repeat and PH domain 8"", ""centaurin, gamma-like family, member 5"""	CTGLF1, AGAP8, CTGLF5		12477932	Standard	XM_005271797		Approved	Em:AC012044.1, MRIP2	uc001jcx.4	Q96P64	OTTHUMG00000018088	ENST00000448048.2:c.108_128delTGGGGACAGGATGGCAGGAGC	10.37:g.46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENSP00000392513:p.Ala36_Gly42del					AGAP4_ENST00000430779.2_5'UTR	p.AGDRMAGA36del	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN			1	233_253	-			36						In_Frame_Del	DEL	ENST00000448048.2	37	c.108_128delTGGGGACAGGATGGCAGGAGC	CCDS7215.1																																																																																				0.588	AGAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047799.1	NM_133446		13	92						13	92	---	---	---	---
SYT15	83849	broad.mit.edu	37	10	46969401	46969403	+	In_Frame_Del	DEL	CAG	CAG	-	rs368995487		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:46969401_46969403delCAG	ENST00000374321.4	-	2	124_126	c.58_60delCTG	c.(58-60)ctgdel	p.L21del	SYT15_ENST00000374325.3_In_Frame_Del_p.L21del|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374323.4_Intron	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCCCGATCAACAGCAGCAGCAGC	0.631																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374325.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(58-60)del		synaptotagmin XV																																				SO:0001651	inframe_deletion	83849					integral to membrane|plasma membrane		g.chr10:46969401_46969403delCAG	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.58_60delCTG	10.37:g.46969410_46969412delCAG	ENSP00000363441:p.Leu21del					SYT15_ENST00000374321.4_In_Frame_Del_p.L21del|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374323.3_Intron	p.L21del	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN			2	210_212	-			21					A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	In_Frame_Del	DEL	ENST00000374321.4	37	c.58_60delCTG	CCDS44376.1																																																																																				0.631	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		7	303						7	303	---	---	---	---
A1CF	29974	broad.mit.edu	37	10	52569667	52569669	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:52569667_52569669delAGC	ENST00000373993.1	-	10	1662_1664	c.1618_1620delGCT	c.(1618-1620)gctdel	p.A540del	A1CF_ENST00000373995.3_In_Frame_Del_p.A540del|A1CF_ENST00000395489.2_In_Frame_Del_p.A533del|A1CF_ENST00000374001.2_In_Frame_Del_p.A532del|A1CF_ENST00000395495.1_In_Frame_Del_p.A485del|A1CF_ENST00000282641.2_In_Frame_Del_p.A540del|A1CF_ENST00000493415.1_5'Flank|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373997.3_In_Frame_Del_p.A532del			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	540					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGAAagcagtagcagcagcagca	0.512																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(1597-1599)del		APOBEC1 complementation factor																																				SO:0001651	inframe_deletion	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52569667_52569669delAGC	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1618_1620delGCT	10.37:g.52569676_52569678delAGC	ENSP00000363105:p.Ala540del					A1CF_ENST00000395495.1_In_Frame_Del_p.A485del|A1CF_ENST00000374001.1_In_Frame_Del_p.A532del|A1CF_ENST00000282641.2_In_Frame_Del_p.A540del|A1CF_ENST00000373995.3_In_Frame_Del_p.A540del|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373993.1_In_Frame_Del_p.A540del|A1CF_ENST00000373997.3_In_Frame_Del_p.A532del	p.A533del	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			14	1993_1995	-			540					A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	In_Frame_Del	DEL	ENST00000373993.1	37	c.1597_1599delGCT	CCDS7242.1																																																																																				0.512	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		7	636						7	636	---	---	---	---
ANK3	288	broad.mit.edu	37	10	61828745	61828747	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:61828745_61828747delGTG	ENST00000280772.2	-	37	12083_12085	c.11892_11894delCAC	c.(11890-11895)accact>act	p.3964_3965TT>T	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3964	Thr-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ggtggtggcagtggtggtggtgg	0.498																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(11890-11895)act>ac		ankyrin 3, node of Ranvier (ankyrin G)																																				SO:0001651	inframe_deletion	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61828745_61828747delGTG	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11892_11894delCAC	10.37:g.61828754_61828756delGTG	ENSP00000280772:p.Thr3965del					ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	p.TT3964del	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	12083_12085	-			3964			Thr-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	In_Frame_Del	DEL	ENST00000280772.2	37	c.11892_11894delCAC	CCDS7258.1																																																																																				0.498	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		11	1095						11	1095	---	---	---	---
CCAR1	55749	broad.mit.edu	37	10	70509285	70509286	+	Frame_Shift_Del	DEL	GA	GA	-	rs147413396		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:70509285_70509286delGA	ENST00000265872.6	+	10	1080_1081	c.961_962delGA	c.(961-963)gagfs	p.E321fs	CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000543719.1_Frame_Shift_Del_p.E306fs	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	321	Arg-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TTTCAGTCGTGAGAGAGAGAGA	0.391																																						ENST00000265872.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						c.(961-963)gfs		cell division cycle and apoptosis regulator 1																																				SO:0001589	frameshift_variant	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70509285_70509286delGA	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.961_962delGA	10.37:g.70509295_70509296delGA	ENSP00000265872:p.Glu321fs					CCAR1_ENST00000543719.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs	p.E321fs	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN			10	1080_1081	+			321			Arg-rich.		A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Frame_Shift_Del	DEL	ENST00000265872.6	37	c.961_962delGA	CCDS7282.1																																																																																				0.391	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		15	344						15	344	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81072446	81072446	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:81072446delC	ENST00000334512.5	+	25	3716	c.3144delC	c.(3142-3144)gacfs	p.D1048fs	ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	1048					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)			CTTATCTGGACCCCCCCGACC	0.557																																						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.(3142-3144)gafs		zinc finger, MIZ-type containing 1							193.0	181.0	185.0					10																	81072446		2203	4300	6503	SO:0001589	frameshift_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81072446delC	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.3144delC	10.37:g.81072446delC	ENSP00000334474:p.Asp1048fs					ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs	p.D1048fs	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		25	3716	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		1048					Q5JSH9|Q7Z7E6	Frame_Shift_Del	DEL	ENST00000334512.5	37	c.3144delC	CCDS7357.1																																																																																				0.557	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		8	1775						8	1775	---	---	---	---
KIF20B	9585	broad.mit.edu	37	10	91498335	91498337	+	In_Frame_Del	DEL	AAG	AAG	-	rs149688226	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:91498335_91498337delAAG	ENST00000371728.3	+	20	3802_3804	c.3737_3739delAAG	c.(3736-3741)aaagaa>aaa	p.E1251del	KIF20B_ENST00000394289.2_In_Frame_Del_p.E1251del|KIF20B_ENST00000416354.1_In_Frame_Del_p.E1281del|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_In_Frame_Del_p.E1211del	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1251	Poly-Glu.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CTTCAATTAAAAGAAGAAGAAGA	0.276														65	0.0129792	0.0454	0.0	5008	,	,		19361	0.001		0.0	False		,,,				2504	0.0041					ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(3826-3831)aaa>a		kinesin family member 20B																																				SO:0001651	inframe_deletion	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91498335_91498337delAAG	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.3737_3739delAAG	10.37:g.91498344_91498346delAAG	ENSP00000360793:p.Glu1251del					KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_In_Frame_Del_p.KE1206del|KIF20B_ENST00000394289.2_In_Frame_Del_p.KE1246del|KIF20B_ENST00000371728.3_In_Frame_Del_p.KE1246del	p.KE1276del			Q96Q89	KI20B_HUMAN			20	3899_3901	+			1246					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	In_Frame_Del	DEL	ENST00000371728.3	37	c.3827_3829delAAG																																																																																					0.276	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		8	473						8	473	---	---	---	---
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:98336475delT	ENST00000371142.4	-	2	430	c.214delA	c.(214-216)agtfs	p.S72fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	72						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGACTGATACTTTTTTTTGAC	0.363																																						ENST00000371142.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15						c.(214-216)gtfs		transmembrane 9 superfamily member 3							146.0	145.0	145.0					10																	98336475		2203	4300	6503	SO:0001589	frameshift_variant	56889					integral to membrane	binding	g.chr10:98336475delT	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.214delA	10.37:g.98336475delT	ENSP00000360184:p.Ser72fs						p.S72fs	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)	2	430	-		Colorectal(252;0.158)	72					Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Frame_Shift_Del	DEL	ENST00000371142.4	37	c.214delA	CCDS7450.1																																																																																				0.363	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123		9	1005						9	1005	---	---	---	---
SCD	6319	broad.mit.edu	37	10	102107836	102107838	+	In_Frame_Del	DEL	ACC	ACC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	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		7	1193						7	1193	---	---	---	---
NOLC1	9221	broad.mit.edu	37	10	103919000	103919002	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:103919000_103919002delAGC	ENST00000605788.1	+	6	893_895	c.658_660delAGC	c.(658-660)agcdel	p.S227del	NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000405356.1_In_Frame_Del_p.S227del|NOLC1_ENST00000603742.1_5'UTR	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	227	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		tagcagcagtagcagcagcagca	0.517																																						ENST00000405356.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31						c.(658-660)del		nucleolar and coiled-body phosphoprotein 1																																				SO:0001651	inframe_deletion	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103919000_103919002delAGC	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.658_660delAGC	10.37:g.103919009_103919011delAGC	ENSP00000474710:p.Ser227del					NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000603742.1_5'UTR	p.S227del			Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	6	893_895	+		Colorectal(252;0.122)	227			11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.		Q15030|Q5VV70|Q9BUV3	In_Frame_Del	DEL	ENST00000605788.1	37	c.658_660delAGC	CCDS7530.1																																																																																				0.517	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		11	1495						11	1495	---	---	---	---
INA	9118	broad.mit.edu	37	10	105048271	105048273	+	In_Frame_Del	DEL	GAG	GAG	-	rs545805667	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:105048271_105048273delGAG	ENST00000369849.4	+	3	1394_1396	c.1345_1347delGAG	c.(1345-1347)gagdel	p.E454del		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	454	Poly-Glu.|Tail.				cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)	p.E449_E450delEE(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ACTTAAGAAAGAGGAGGAGGAGG	0.458														3	0.000599042	0.0008	0.0	5008	,	,		16930	0.001		0.0	False		,,,				2504	0.001					ENST00000369849.4																			1	Deletion - In frame(1)	p.E449_E450delEE(1)	breast(1)	breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13						c.(1345-1347)del		internexin neuronal intermediate filament protein, alpha																																				SO:0001651	inframe_deletion	9118				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton	g.chr10:105048271_105048273delGAG	S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"""Intermediate filaments type IV"""	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.1345_1347delGAG	10.37:g.105048280_105048282delGAG	ENSP00000358865:p.Glu454del						p.E454del	NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN		Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	3	1394_1396	+			454			Poly-Glu.|Tail.		B1AQK0|Q9BRC5	In_Frame_Del	DEL	ENST00000369849.4	37	c.1345_1347delGAG	CCDS7545.1																																																																																				0.458	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	NM_032727		18	981						18	981	---	---	---	---
SLK	9748	broad.mit.edu	37	10	105727547	105727549	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:105727547_105727549delAGA	ENST00000369755.3	+	1	589_591	c.44_46delAGA	c.(43-48)gagaag>gag	p.K19del	SLK_ENST00000335753.4_In_Frame_Del_p.K19del	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	19	Poly-Lys.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TTGGGGAGCGAGAAGAAGAAGAA	0.448																																					NSCLC(111;540 1651 1927 4474 17706)	ENST00000369755.3																			0				kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8						c.(43-48)gag>g		STE20-like kinase																																				SO:0001651	inframe_deletion	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105727547_105727549delAGA		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.44_46delAGA	10.37:g.105727556_105727558delAGA	ENSP00000358770:p.Lys19del					SLK_ENST00000335753.4_In_Frame_Del_p.EK15del	p.EK15del	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	1	589_591	+		Colorectal(252;0.178)	15					D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	In_Frame_Del	DEL	ENST00000369755.3	37	c.44_46delAGA	CCDS7553.1																																																																																				0.448	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		11	918						11	918	---	---	---	---
AFAP1L2	84632	broad.mit.edu	37	10	116062107	116062107	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:116062107delT	ENST00000304129.4	-	12	1450	c.1421delA	c.(1420-1422)aacfs	p.N474fs	AFAP1L2_ENST00000545353.1_Frame_Shift_Del_p.N527fs|AFAP1L2_ENST00000369271.3_Frame_Shift_Del_p.N474fs|AFAP1L2_ENST00000491814.1_5'Flank			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	474					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CAAGAGAGAGTTTTTGGCCGC	0.547																																						ENST00000369271.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21						c.(1420-1422)acfs		actin filament associated protein 1-like 2							154.0	171.0	165.0					10																	116062107		2203	4300	6503	SO:0001589	frameshift_variant	84632				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	g.chr10:116062107delT	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.1421delA	10.37:g.116062107delT	ENSP00000303042:p.Asn474fs					AFAP1L2_ENST00000304129.4_Frame_Shift_Del_p.N474fs|AFAP1L2_ENST00000545353.1_Frame_Shift_Del_p.N527fs	p.N474fs	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN		Epithelial(162;0.0219)|all cancers(201;0.0561)	12	1721	-		Colorectal(252;0.175)|Breast(234;0.231)	474					A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Frame_Shift_Del	DEL	ENST00000304129.4	37	c.1421delA	CCDS31286.1																																																																																				0.547	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		9	1635						9	1635	---	---	---	---
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:125528165_125528167delCAG	ENST00000241305.3	-	9	1328_1330	c.1174_1176delCTG	c.(1174-1176)ctgdel	p.L392del	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	392	Poly-Leu.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(1174-1176)del		carboxypeptidase X (M14 family), member 2																																				SO:0001651	inframe_deletion	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125528165_125528167delCAG	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1174_1176delCTG	10.37:g.125528174_125528176delCAG	ENSP00000241305:p.Leu392del					CPXM2_ENST00000368854.3_5'UTR	p.L392del	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	9	1328_1330	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	392			Poly-Leu.		B4E3Q2	In_Frame_Del	DEL	ENST00000241305.3	37	c.1174_1176delCTG	CCDS7637.1																																																																																				0.626	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		13	1362						13	1362	---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129913974	129913974	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:129913974delT	ENST00000368654.3	-	7	1073	c.698delA	c.(697-699)aatfs	p.N233fs	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	233					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGGAGATTCATTTTTTTTGCT	0.343																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(697-699)atfs		marker of proliferation Ki-67							77.0	75.0	76.0					10																	129913974		2203	4300	6503	SO:0001589	frameshift_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129913974delT	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.698delA	10.37:g.129913974delT	ENSP00000357643:p.Asn233fs					MKI67_ENST00000368653.3_Intron	p.N233fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			7	1073	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	233					Q5VWH2	Frame_Shift_Del	DEL	ENST00000368654.3	37	c.698delA	CCDS7659.1																																																																																				0.343	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		8	436						8	436	---	---	---	---
LOC101927708	101927708	broad.mit.edu	37	11	3552650	3552651	+	RNA	INS	-	-	G	rs34642454		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:3552650_3552651insG	ENST00000527970.1	-	0	285				RP13-726E6.1_ENST00000534291.1_lincRNA																							CAGCACCCCATGGGGGGGCCCT	0.5																																						ENST00000527970.1																			0																																																			0							g.chr11:3552650_3552651insG																													11.37:g.3552657_3552657dupG														0	285	-									RNA	INS	ENST00000527970.1	37																																																																																						0.500	RP13-726E6.2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000392273.1			13	24						13	24	---	---	---	---
OR10A2	341276	broad.mit.edu	37	11	6891253	6891255	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:6891253_6891255delTTC	ENST00000307322.4	+	1	330_332	c.268_270delTTC	c.(268-270)ttcdel	p.F94del		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	94						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(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCAGATGTATTTCTTCTTCTTCT	0.517																																						ENST00000307322.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24						c.(268-270)del		olfactory receptor, family 10, subfamily A, member 2																																				SO:0001651	inframe_deletion	341276				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6891253_6891255delTTC	BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"""GPCR / Class A : Olfactory receptors"""	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.268_270delTTC	11.37:g.6891262_6891264delTTC	ENSP00000303862:p.Phe94del						p.F94del	NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	1	330_332	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	94					B2RNL9|Q6IFG9	In_Frame_Del	DEL	ENST00000307322.4	37	c.268_270delTTC	CCDS31415.1																																																																																				0.517	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460		7	617						7	617	---	---	---	---
MICALCL	84953	broad.mit.edu	37	11	12316344	12316345	+	In_Frame_Ins	INS	-	-	CTC	rs3841216|rs573537447		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:12316344_12316345insCTC	ENST00000256186.2	+	3	1657_1658	c.1366_1367insCTC	c.(1366-1368)gct>gCTCct	p.470_471insP		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	470	Poly-Pro.		T -> P (in dbSNP:rs3812754).		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		GCGCCAGGCAGctcctcctcct	0.604																																						ENST00000256186.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1366-1368)tcc>CTCtcc		MICAL C-terminal like																																				SO:0001652	inframe_insertion	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12316344_12316345insCTC	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1406_1408dupCTC	11.37:g.12316351_12316353dupCTC	ENSP00000256186:p.Pro470_Pro470dup						p.455_456insL	NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	3	1657_1658	+			455					Q7RTP7|Q96JU6	In_Frame_Ins	INS	ENST00000256186.2	37	c.1366_1367insCTC	CCDS41620.1																																																																																				0.604	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		8	137						8	137	---	---	---	---
EHF	26298	broad.mit.edu	37	11	34668171	34668172	+	Frame_Shift_Ins	INS	-	-	G	rs373708938|rs369404357		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:34668171_34668172insG	ENST00000533754.1	+	3	500_501	c.283_284insG	c.(283-285)cggfs	p.R95fs	EHF_ENST00000530286.1_Frame_Shift_Ins_p.R95fs|EHF_ENST00000450654.2_Frame_Shift_Ins_p.R95fs|EHF_ENST00000531728.1_Frame_Shift_Ins_p.R95fs|EHF_ENST00000527935.1_Frame_Shift_Ins_p.R95fs|EHF_ENST00000531794.1_Frame_Shift_Ins_p.R117fs|EHF_ENST00000257831.3_Frame_Shift_Ins_p.R95fs					ets homologous factor										NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			GGAGTTCACCCGGGCGGCAGGG	0.574																																						ENST00000257831.3																		NFIA/EHF(2)	0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17						c.(283-285)ggcfs		ets homologous factor																																				SO:0001589	frameshift_variant	26298				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:34668171_34668172insG	AF170583	CCDS7894.1, CCDS55752.1, CCDS55753.1	11p12	2008-07-18				ENSG00000135373			3246	protein-coding gene	gene with protein product	"""epithelium-specific ets factor 3"", ""ESE3 transcription factor"""	605439				10527851	Standard	NM_012153		Approved	ESE3, ESEJ	uc021qfu.1	Q9NZC4		ENST00000533754.1:c.286dupG	11.37:g.34668174_34668174dupG	ENSP00000435837:p.Arg95fs					EHF_ENST00000450654.2_Frame_Shift_Ins_p.G95fs|EHF_ENST00000531794.1_Frame_Shift_Ins_p.G117fs|EHF_ENST00000531728.1_Frame_Shift_Ins_p.G95fs|EHF_ENST00000533754.1_Frame_Shift_Ins_p.G95fs|EHF_ENST00000527935.1_Frame_Shift_Ins_p.G95fs|EHF_ENST00000530286.1_Frame_Shift_Ins_p.G95fs	p.G95fs	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)		3	404_405	+		all_hematologic(20;0.117)	95			PNT.			Frame_Shift_Ins	INS	ENST00000533754.1	37	c.283_284insG	CCDS7894.1																																																																																				0.574	EHF-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389855.1	NM_012153		501	446						501	446	---	---	---	---
TIGD3	220359	broad.mit.edu	37	11	65123359	65123368	+	Frame_Shift_Del	DEL	CCAAGATGTC	CCAAGATGTC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:65123359_65123368delCCAAGATGTC	ENST00000309880.5	+	2	287_296	c.80_89delCCAAGATGTC	c.(79-90)tccaagatgtccfs	p.SKMS27fs		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	27	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CTGGATGAGTCCAAGATGTCCCAGTCGGAG	0.619																																						ENST00000309880.5																			0				endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						c.(79-90)tcfs		tigger transposable element derived 3																																				SO:0001589	frameshift_variant	220359				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:65123359_65123368delCCAAGATGTC		CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.80_89delCCAAGATGTC	11.37:g.65123359_65123368delCCAAGATGTC	ENSP00000308354:p.Ser27fs						p.SKMS27fs	NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN			2	287_296	+			27			HTH psq-type.			Frame_Shift_Del	DEL	ENST00000309880.5	37	c.80_89delCCAAGATGTC	CCDS8101.1																																																																																				0.619	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387310.1	NM_145719		20	413						20	413	---	---	---	---
KRTAP5-7	440050	broad.mit.edu	37	11	71238416	71238436	+	In_Frame_Del	DEL	TGTGGCTCTGGCTGTGGGGGA	TGTGGCTCTGGCTGTGGGGGA	-	rs554986629|rs201675734|rs572895813	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:71238416_71238436delTGTGGCTCTGGCTGTGGGGGA	ENST00000398536.4	+	1	104_124	c.70_90delTGTGGCTCTGGCTGTGGGGGA	c.(70-90)tgtggctctggctgtgggggadel	p.CGSGCGG24del		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	24						keratin filament (GO:0045095)		p.G30G(1)		breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						CTGTGGGGGCTGTGGCTCTGGCTGTGGGGGATGTGGCTCCA	0.665																																						ENST00000398536.4																			1	Substitution - coding silent(1)	p.G30G(1)	kidney(1)	breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						c.(70-90)del		keratin associated protein 5-7																																				SO:0001651	inframe_deletion	440050					keratin filament		g.chr11:71238416_71238436delTGTGGCTCTGGCTGTGGGGGA	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"""Keratin associated proteins"""	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.70_90delTGTGGCTCTGGCTGTGGGGGA	11.37:g.71238416_71238436delTGTGGCTCTGGCTGTGGGGGA	ENSP00000417330:p.Cys24_Gly30del						p.CGSGCGG24del	NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN			1	104_124	+			24					B2RNM3|Q701N5	In_Frame_Del	DEL	ENST00000398536.4	37	c.70_90delTGTGGCTCTGGCTGTGGGGGA	CCDS41682.1																																																																																				0.665	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			7	1256						7	1256	---	---	---	---
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	-	A	rs548576417|rs552289081|rs56022003	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:89106662_89106663insA	ENST00000263317.4	-	12	1313		c.e12-2		NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000535633.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													?|AAAAAAAAA|AAAAAAAAAA|unsure	31	0.0061901	0.0227	0.0014	5008	,	,		14064	0.0		0.0	False		,,,				2504	0.0					ENST00000535633.1																			1	Unknown(1)	p.?(1)	ovary(1)	NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.e12-2		NADPH oxidase 4			,,	92,4164		2,88,2038					,,	5.2	1.0		dbSNP_129	80	7,8213		0,7,4103	no	splice-3,splice-3,splice-3	NOX4	NM_016931.3,NM_001143837.1,NM_001143836.1	,,	2,95,6141	A1A1,A1R,RR		0.0852,2.1617,0.7935	,,	,,		99,12377				SO:0001630	splice_region_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89106662_89106663insA	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1075-2->T	11.37:g.89106671_89106671dupA						NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000527956.1_Splice_Site		NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN			12	1313	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)						A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Splice_Site	INS	ENST00000263317.4	37		CCDS8285.1																																																																																				0.292	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931	Intron	11	531						11	531	---	---	---	---
DDX10	1662	broad.mit.edu	37	11	108788635	108788637	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:108788635_108788637delTGA	ENST00000322536.3	+	17	2469_2471	c.2340_2342delTGA	c.(2338-2343)agtgat>agt	p.D788del	DDX10_ENST00000526794.1_In_Frame_Del_p.D788del	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	788					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGGATTGGAGtgatgatgatgat	0.355			T	NUP98	AML*																																	ENST00000526794.1				Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27						c.(2338-2343)agt>ag		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10				25,260,77,3902		0,2,0,23,4,0,250,5,67,1781						4.9	1.0			85	14,28,155,8057		0,0,0,14,0,0,28,12,131,3942	no	codingComplex	DDX10	NM_004398.2		0,2,0,37,4,0,278,17,198,5723	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		2.3867,8.4897,4.4656				39,288,232,11959				SO:0001651	inframe_deletion	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108788635_108788637delTGA	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.2340_2342delTGA	11.37:g.108788644_108788646delTGA	ENSP00000314348:p.Asp788del					DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del	p.SD780del			Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	17	2372_2374	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	780					B2RCQ3|Q5BJD8	In_Frame_Del	DEL	ENST00000322536.3	37	c.2340_2342delTGA	CCDS8342.1																																																																																				0.355	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		12	305						12	305	---	---	---	---
CADM1	23705	broad.mit.edu	37	11	115080312	115080314	+	In_Frame_Del	DEL	TGG	TGG	-	rs370430583		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:115080312_115080314delTGG	ENST00000452722.3	-	8	1078_1080	c.1058_1060delCCA	c.(1057-1062)accatc>atc	p.T353del	CADM1_ENST00000537058.1_In_Frame_Del_p.T353del|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000331581.6_In_Frame_Del_p.T353del|CADM1_ENST00000537140.1_Intron	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		atggtaaggatggtggtggtggt	0.429																																						ENST00000537058.1																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1057-1062)atc>a		cell adhesion molecule 1																																				SO:0001651	inframe_deletion	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115080312_115080314delTGG	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1058_1060delCCA	11.37:g.115080321_115080323delTGG	ENSP00000395359:p.Thr353del					CADM1_ENST00000537140.1_Intron|CADM1_ENST00000452722.2_In_Frame_Del_p.TI353del|CADM1_ENST00000331581.6_In_Frame_Del_p.TI353del|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000542447.2_Intron	p.TI353del			Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	8	1078_1080	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	353	PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).					In_Frame_Del	DEL	ENST00000452722.3	37	c.1058_1060delCCA	CCDS8373.1																																																																																				0.429	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		11	303						11	303	---	---	---	---
BCL9L	283149	broad.mit.edu	37	11	118773004	118773004	+	Frame_Shift_Del	DEL	G	G	-	rs147951163	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:118773004delG	ENST00000334801.3	-	6	2412	c.1448delC	c.(1447-1449)ccgfs	p.P483fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	483	Necessary for interaction with CTNNB1. {ECO:0000250}.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		ATGCTCCAGCGGGGGGCCCCC	0.642																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(1447-1449)cgfs		B-cell CLL/lymphoma 9-like				23,4115		3,17,2049	50.0	62.0	58.0			-2.9	0.5	11		59	32,8100		3,26,4037	no	frameshift	BCL9L	NM_182557.2		6,43,6086	A1A1,A1R,RR		0.3935,0.5558,0.4482			118773004	55,12215	2158	4253	6411	SO:0001589	frameshift_variant	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118773004delG	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1448delC	11.37:g.118773004delG	ENSP00000335320:p.Pro483fs					BCL9L_ENST00000526143.1_5'UTR	p.P483fs	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	2412	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	483			Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Frame_Shift_Del	DEL	ENST00000334801.3	37	c.1448delC	CCDS8403.1																																																																																				0.642	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		7	851						7	851	---	---	---	---
FAR2	55711	broad.mit.edu	37	12	29450110	29450110	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:29450110delA	ENST00000536681.3	+	4	768	c.522delA	c.(520-522)ccafs	p.P174fs	FAR2_ENST00000182377.4_Frame_Shift_Del_p.P174fs|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	174					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTGTGGAGCCAAAAAAAATCA	0.388																																						ENST00000182377.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						c.(520-522)ccfs		fatty acyl CoA reductase 2							108.0	116.0	113.0					12																	29450110		2203	4300	6503	SO:0001589	frameshift_variant	55711				ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	g.chr12:29450110delA	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.522delA	12.37:g.29450110delA	ENSP00000443291:p.Pro174fs					FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs	p.P174fs	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN			4	790	+			174					F8VV73|Q9H0D5|Q9NVW8	Frame_Shift_Del	DEL	ENST00000536681.3	37	c.522delA	CCDS8717.1																																																																																				0.388	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		9	477						9	477	---	---	---	---
GLI1	2735	broad.mit.edu	37	12	57860075	57860075	+	Frame_Shift_Del	DEL	G	G	-	rs368789621		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:57860075delG	ENST00000228682.2	+	8	906	c.815delG	c.(814-816)tggfs	p.W272fs	GLI1_ENST00000543426.1_Frame_Shift_Del_p.W144fs|GLI1_ENST00000546141.1_Frame_Shift_Del_p.W231fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GTGTGCCACTGGGGGGGCTGC	0.597																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(814-816)tgfs		GLI family zinc finger 1							128.0	124.0	126.0					12																	57860075		2203	4300	6503	SO:0001589	frameshift_variant	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57860075delG		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.815delG	12.37:g.57860075delG	ENSP00000228682:p.Trp272fs					GLI1_ENST00000546141.1_Frame_Shift_Del_p.W231fs|GLI1_ENST00000543426.1_Frame_Shift_Del_p.W144fs	p.W272fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		8	906	+			272					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Frame_Shift_Del	DEL	ENST00000228682.2	37	c.815delG	CCDS8940.1																																																																																				0.597	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		7	507						7	507	---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101680156	101680157	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:101680156_101680157insT	ENST00000261637.4	+	5	558_559	c.384_385insT	c.(385-387)tttfs	p.F129fs		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	129					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ACTTTCCAGAGTTTTTTTTGAC	0.396																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(382-387)gattttfs		UTP20, small subunit (SSU) processome component, homolog (yeast)																																				SO:0001589	frameshift_variant	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101680156_101680157insT	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.392dupT	12.37:g.101680164_101680164dupT	ENSP00000261637:p.Phe129fs						p.DF128fs	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			5	558_559	+			128					Q9H3H4	Frame_Shift_Ins	INS	ENST00000261637.4	37	c.384_385insT	CCDS9081.1																																																																																				0.396	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		7	699						7	699	---	---	---	---
TPCN1	53373	broad.mit.edu	37	12	113704096	113704098	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:113704096_113704098delCTG	ENST00000335509.6	+	4	663_665	c.349_351delCTG	c.(349-351)ctgdel	p.L122del	TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del|TPCN1_ENST00000550785.1_In_Frame_Del_p.L194del|TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	122					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGCCACGGCCCTGCTGCTGCTGC	0.64																																						ENST00000550785.1																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(565-567)del		two pore segment channel 1																																				SO:0001651	inframe_deletion	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113704096_113704098delCTG	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.349_351delCTG	12.37:g.113704105_113704107delCTG	ENSP00000335300:p.Leu122del					TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del|TPCN1_ENST00000335509.6_In_Frame_Del_p.L122del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del	p.L194del	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			5	734_736	+			122					A7E258|Q86XS9|Q8NC20	In_Frame_Del	DEL	ENST00000335509.6	37	c.565_567delCTG	CCDS31908.1																																																																																				0.640	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		12	1338						12	1338	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23912864	23912864	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:23912864delT	ENST00000382292.3	-	9	5424	c.5151delA	c.(5149-5151)aaafs	p.K1717fs	SACS_ENST00000382298.3_Frame_Shift_Del_p.K1717fs|SACS_ENST00000402364.1_Frame_Shift_Del_p.K967fs			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1717					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)		AAGAGCAGGATTTTTTTTTAA	0.358																																						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.(5149-5151)aafs		spastic ataxia of Charlevoix-Saguenay (sacsin)							40.0	42.0	42.0					13																	23912864		2202	4299	6501	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.chr13:23912864delT	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.5151delA	13.37:g.23912864delT	ENSP00000371729:p.Lys1717fs					SACS_ENST00000402364.1_Frame_Shift_Del_p.K967fs|SACS_ENST00000382292.3_Frame_Shift_Del_p.K1717fs	p.K1717fs	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	-		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_Del	DEL	ENST00000382292.3	37	c.5151delA	CCDS9300.2																																																																																				0.358	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		8	493						8	493	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25517701	25517702	+	RNA	INS	-	-	T	rs201803334	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:25517701_25517702insT	ENST00000429698.1	-	0	374							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		ACCATTTGCTATTTTTTTTTCT	0.426													|||unknown(LONG_INSERTION)	223	0.0445288	0.0832	0.0216	5008	,	,		22059	0.0575		0.0159	False		,,,				2504	0.0245					ENST00000429698.1																			0																																																			0							g.chr13:25517701_25517702insT			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25517710_25517710dupT														0	374	-								B3KST4|B4DMH9	RNA	INS	ENST00000429698.1	37																																																																																						0.426	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			7	587						7	587	---	---	---	---
NBEA	26960	broad.mit.edu	37	13	35733662	35733663	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:35733662_35733663insA	ENST00000400445.3	+	22	3888_3889	c.3354_3355insA	c.(3355-3357)aaafs	p.K1119fs	NBEA_ENST00000379939.2_Frame_Shift_Ins_p.K1119fs|NBEA_ENST00000540320.1_Frame_Shift_Ins_p.K1119fs|NBEA_ENST00000310336.4_Frame_Shift_Ins_p.K1119fs	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1119					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTGGTATCATTAAAAAAAATGA	0.356																																						ENST00000540320.1																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(3352-3357)ataaaafs		neurobeachin																																				SO:0001589	frameshift_variant	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35733662_35733663insA	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.3362dupA	13.37:g.35733670_35733670dupA	ENSP00000383295:p.Lys1119fs					NBEA_ENST00000310336.4_Frame_Shift_Ins_p.IK1118fs|NBEA_ENST00000379939.2_Frame_Shift_Ins_p.IK1118fs|NBEA_ENST00000400445.3_Frame_Shift_Ins_p.IK1118fs	p.IK1118fs			Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	22	3888_3889	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	1118					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Frame_Shift_Ins	INS	ENST00000400445.3	37	c.3354_3355insA	CCDS45026.1																																																																																				0.356	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		7	308						7	308	---	---	---	---
KBTBD7	84078	broad.mit.edu	37	13	41767432	41767434	+	In_Frame_Del	DEL	CTG	CTG	-	rs552076358		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:41767432_41767434delCTG	ENST00000379483.3	-	1	1268_1270	c.960_962delCAG	c.(958-963)agcagt>agt	p.320_321SS>S		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	320										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		gctgctgctactgctgctgctgc	0.512																																						ENST00000379483.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(958-963)agt>ag		kelch repeat and BTB (POZ) domain containing 7																																				SO:0001651	inframe_deletion	84078						protein binding	g.chr13:41767432_41767434delCTG	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.960_962delCAG	13.37:g.41767441_41767443delCTG	ENSP00000368797:p.Ser324del						p.SS322del	NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	1268_1270	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	322					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	In_Frame_Del	DEL	ENST00000379483.3	37	c.960_962delCAG	CCDS9377.1																																																																																				0.512	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		12	268						12	268	---	---	---	---
GPALPP1	55425	broad.mit.edu	37	13	45580365	45580367	+	In_Frame_Del	DEL	GAT	GAT	-	rs138421508		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:45580365_45580367delGAT	ENST00000379151.4	+	3	353_355	c.250_252delGAT	c.(250-252)gatdel	p.D88del	RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000361121.2_In_Frame_Del_p.D88del|GPALPP1_ENST00000357537.3_De_novo_Start_InFrame	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	88	Poly-Asp.																Ggatgatgacgatgatgatgatg	0.335																																						ENST00000361121.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12						c.(250-252)del						311,3953		154,3,1975						-7.1	0.0			182	654,7600		325,4,3798	no	coding	KIAA1704	NM_018559.2		479,7,5773	A1A1,A1R,RR		7.9234,7.2936,7.7089				965,11553				SO:0001651	inframe_deletion	0							g.chr13:45580365_45580367delGAT	AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"""KIAA1704"""	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.250_252delGAT	13.37:g.45580374_45580376delGAT	ENSP00000368447:p.Asp88del					KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del|RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000357537.3_De_novo_Start_InFrame	p.D88del			Q8IXQ4	K1704_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)	3	285_287	+		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	88			Poly-Asp.		A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	In_Frame_Del	DEL	ENST00000379151.4	37	c.250_252delGAT	CCDS9394.1																																																																																				0.335	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044749.2	NM_018559		18	1688						18	1688	---	---	---	---
DIAPH3	81624	broad.mit.edu	37	13	60582733	60582734	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:60582733_60582734insT	ENST00000400324.4	-	9	1178_1179	c.958_959insA	c.(958-960)attfs	p.I320fs	DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.I320fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.I320fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.I309fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.I274fs|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.I250fs|DIAPH3_ENST00000465066.1_5'UTR	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	320	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAATCTGTCAATTTTTTTTTCT	0.322																																						ENST00000400324.4																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(958-960)tgafs		diaphanous-related formin 3			,	3,3461		0,3,1729					,	5.8	0.8			86	6,7780		0,6,3887	no	frameshift,frameshift	DIAPH3	NM_030932.3,NM_001042517.1	,	0,9,5616	A1A1,A1R,RR		0.0771,0.0866,0.08	,	,		9,11241				SO:0001589	frameshift_variant	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60582733_60582734insT	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.959dupA	13.37:g.60582742_60582742dupT	ENSP00000383178:p.Ile320fs					DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs	p.*320fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	9	1178_1179	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	320			GBD/FH3.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Frame_Shift_Ins	INS	ENST00000400324.4	37	c.958_959insA	CCDS41898.1																																																																																				0.322	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		22	1059						22	1059	---	---	---	---
LOC102723968	102723968	broad.mit.edu	37	13	64407210	64407211	+	lincRNA	INS	-	-	TACTGTCAG			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:64407210_64407211insTACTGTCAG	ENST00000607822.1	-	0	2159																											AGACCTTTATATAATTGCCAAA	0.366																																						ENST00000607822.1																			0																																																			0							g.chr13:64407210_64407211insTACTGTCAG																													13.37:g.64407210_64407211insTACTGTCAG														0	2159	-									RNA	INS	ENST00000607822.1	37																																																																																						0.366	RP11-394A14.2-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000471084.1			8	1057						8	1057	---	---	---	---
POU4F1	5457	broad.mit.edu	37	13	79176484	79176486	+	In_Frame_Del	DEL	TGG	TGG	-	rs371388366		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:79176484_79176486delTGG	ENST00000377208.5	-	2	535_537	c.324_326delCCA	c.(322-327)caccag>cag	p.H108del	RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RP11-52L5.6_ENST00000607269.1_RNA|RNF219-AS1_ENST00000607860.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	108	Poly-His.				axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	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 (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.H108delH(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TTCGAGCGCCtggtggtggtggt	0.729																																					Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)	ENST00000377208.5																			1	Deletion - In frame(1)	p.H108delH(1)	central_nervous_system(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16						c.(322-327)cag>ca		POU class 4 homeobox 1																																				SO:0001651	inframe_deletion	5457				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:79176484_79176486delTGG	X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192		"""Homeoboxes / POU class"""	9218	protein-coding gene	gene with protein product		601632	"""POU domain class 4, transcription factor 1"""	BRN3A		1357630	Standard	NM_006237		Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.324_326delCCA	13.37:g.79176493_79176495delTGG	ENSP00000366413:p.His108del					RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606376.1_RNA	p.HQ108del	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN		GBM - Glioblastoma multiforme(99;0.129)	2	535_537	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	108			Poly-His.		Q14986|Q15318|Q5T227	In_Frame_Del	DEL	ENST00000377208.5	37	c.324_326delCCA	CCDS31996.1																																																																																				0.729	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045360.3			8	33						8	33	---	---	---	---
RBM26	64062	broad.mit.edu	37	13	79918806	79918807	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:79918806_79918807insT	ENST00000438737.2	-	15	2621_2622	c.2181_2182insA	c.(2179-2184)aaacagfs	p.Q728fs	RBM26_ENST00000267229.7_Frame_Shift_Ins_p.Q701fs|RBM26_ENST00000438724.1_Frame_Shift_Ins_p.Q704fs			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_ENST00000267229.7_Frame_Shift_Ins_p.G701fs|RBM26_ENST00000438724.1_Frame_Shift_Ins_p.G704fs	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	341						11	341	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88330019	88330021	+	In_Frame_Del	DEL	GCA	GCA	-	rs552694563	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:88330019_88330021delGCA	ENST00000325089.6	+	2	2595_2597	c.2376_2378delGCA	c.(2374-2379)ctgcag>ctg	p.Q797del	SLITRK5_ENST00000400028.3_In_Frame_Del_p.Q556del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	797					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACCACCACCTgcagcagcagcag	0.655																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(2374-2379)ctg>ct		SLIT and NTRK-like family, member 5																																				SO:0001651	inframe_deletion	26050					integral to membrane		g.chr13:88330019_88330021delGCA	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2376_2378delGCA	13.37:g.88330028_88330030delGCA	ENSP00000366283:p.Gln797del					SLITRK5_ENST00000400028.3_In_Frame_Del_p.LQ551del	p.LQ792del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	2595_2597	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		792					B3KNB8|B4DSH5|Q5VT81	In_Frame_Del	DEL	ENST00000325089.6	37	c.2376_2378delGCA	CCDS9465.1																																																																																				0.655	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			8	410						8	410	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20086381	20086382	+	RNA	INS	-	-	T	rs202177940		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr14:20086381_20086382insT	ENST00000548261.1	+	0	135																											GTCTTACAAGGTAAAAAAAATG	0.312																																						ENST00000548261.1																			0																																																			0							g.chr14:20086381_20086382insT																													14.37:g.20086382_20086382dupT														0	135	+									RNA	INS	ENST00000548261.1	37																																																																																						0.312	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			7	111						7	111	---	---	---	---
PRKD1	5587	broad.mit.edu	37	14	30047559	30047559	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr14:30047559delA	ENST00000331968.5	-	17	2671	c.2442delT	c.(2440-2442)gatfs	p.D814fs	PRKD1_ENST00000415220.2_Frame_Shift_Del_p.D822fs	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	814	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TGTTGATAAGATCAATGGCTG	0.333																																						ENST00000331968.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(2440-2442)gafs		protein kinase D1							66.0	65.0	65.0					14																	30047559		2203	4300	6503	SO:0001589	frameshift_variant	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30047559delA		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2442delT	14.37:g.30047559delA	ENSP00000333568:p.Asp814fs					PRKD1_ENST00000415220.2_Frame_Shift_Del_p.D822fs	p.D814fs	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	17	2671	-	Hepatocellular(127;0.0604)		814			Protein kinase.		A6NL64|B2RAF6	Frame_Shift_Del	DEL	ENST00000331968.5	37	c.2442delT	CCDS9637.1																																																																																				0.333	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		23	82						23	82	---	---	---	---
FBXO33	254170	broad.mit.edu	37	14	39871612	39871612	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr14:39871612delT	ENST00000298097.7	-	2	1040	c.703delA	c.(703-705)attfs	p.I235fs	FBXO33_ENST00000554190.1_Intron	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	235					protein ubiquitination (GO:0016567)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		TACTGTTTAATTTTTTTGCCA	0.323																																						ENST00000298097.7																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9						c.(703-705)ttfs		F-box protein 33							102.0	94.0	97.0					14																	39871612		2203	4300	6503	SO:0001589	frameshift_variant	254170							g.chr14:39871612delT	BI460761	CCDS9677.1	14q13.3	2004-08-24	2004-06-15		ENSG00000165355	ENSG00000165355		"""F-boxes /  ""other"""""	19833	protein-coding gene	gene with protein product		609103	"""F-box only protein 33"""				Standard	NM_203301		Approved	Fbx33	uc001wvk.3	Q7Z6M2	OTTHUMG00000140257	ENST00000298097.7:c.703delA	14.37:g.39871612delT	ENSP00000298097:p.Ile235fs					FBXO33_ENST00000554190.1_Intron	p.I235fs	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)	2	1040	-	Hepatocellular(127;0.213)		235					Q6PIR2|Q86TR2|Q86YE0	Frame_Shift_Del	DEL	ENST00000298097.7	37	c.703delA	CCDS9677.1																																																																																				0.323	FBXO33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276769.2			7	184						7	184	---	---	---	---
C14orf105	55195	broad.mit.edu	37	14	57938236	57938237	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr14:57938236_57938237insT	ENST00000216445.3	-	6	863_864	c.727_728insA	c.(727-729)atgfs	p.M243fs	C14orf105_ENST00000534126.1_Frame_Shift_Ins_p.M242fs|C14orf105_ENST00000422976.2_Frame_Shift_Ins_p.M283fs	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	243										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						CCATGTTTCCATTTTGCCAATT	0.396																																						ENST00000216445.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						c.(727-729)ggafs		chromosome 14 open reading frame 105																																				SO:0001589	frameshift_variant	55195							g.chr14:57938236_57938237insT	AK001512	CCDS9730.1, CCDS61458.1, CCDS61459.1	14q22.2	2012-09-25			ENSG00000100557	ENSG00000100557			20189	protein-coding gene	gene with protein product							Standard	XM_005267806		Approved	FLJ10650	uc001xcy.2	Q9NVL8	OTTHUMG00000140317	ENST00000216445.3:c.728dupA	14.37:g.57938240_57938240dupT	ENSP00000216445:p.Met243fs					C14orf105_ENST00000422976.2_Frame_Shift_Ins_p.G283fs|C14orf105_ENST00000534126.1_Frame_Shift_Ins_p.G242fs	p.G243fs	NM_018168.2	NP_060638.2	Q9NVL8	CN105_HUMAN			6	863_864	-			243					Q53G04	Frame_Shift_Ins	INS	ENST00000216445.3	37	c.727_728insA	CCDS9730.1																																																																																				0.396	C14orf105-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276921.2	NM_018168		76	25						76	25	---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72190482	72190484	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	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_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000554874.1_3'UTR	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_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del	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		11	403						11	403	---	---	---	---
SPATA5L1	79029	broad.mit.edu	37	15	45710840	45710841	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:45710840_45710841insT	ENST00000305560.6	+	7	2153_2154	c.2054_2055insT	c.(2053-2058)tgttttfs	p.CF685fs	SPATA5L1_ENST00000533841.1_3'UTR	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	685						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GCAGAAACCTGTTTTTTTTCTG	0.361																																						ENST00000305560.6																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						c.(2053-2055)tttfs		spermatogenesis associated 5-like 1																																				SO:0001589	frameshift_variant	79029					cytoplasm	ATP binding|nucleoside-triphosphatase activity	g.chr15:45710840_45710841insT	AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"""ATPases / AAA-type"""	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.2062dupT	15.37:g.45710848_45710848dupT	ENSP00000305494:p.Cys685fs					SPATA5L1_ENST00000533841.1_3'UTR	p.F685fs	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)	7	2153_2154	+		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	685					C9JHR5|Q9H8W7|Q9HA41	Frame_Shift_Ins	INS	ENST00000305560.6	37	c.2054_2055insT	CCDS10123.1																																																																																				0.361	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		7	264						7	264	---	---	---	---
IL16	3603	broad.mit.edu	37	15	81592162	81592164	+	In_Frame_Del	DEL	CCT	CCT	-	rs562825970		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:81592162_81592164delCCT	ENST00000302987.4	+	13	2495_2497	c.2495_2497delCCT	c.(2494-2499)gcctcc>gcc	p.S838del	IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394652.2_In_Frame_Del_p.S137del|IL16_ENST00000394660.2_In_Frame_Del_p.S838del			Q14005	IL16_HUMAN	interleukin 16	838					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S792delS(1)|p.S838delS(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CACATCCGGGcctcctcctcctc	0.586																																						ENST00000394660.2																			2	Deletion - In frame(2)	p.S792delS(1)|p.S838delS(1)	large_intestine(2)	NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(2494-2499)gcc>g		interleukin 16			,,	50,2,4208		3,0,44,0,2,2081					,,	3.2	0.1			40	99,6,8147		7,0,85,0,6,4028	no	codingComplex,codingComplex,codingComplex	IL16	NM_172217.3,NM_004513.5,NM_001172128.1	,,	10,0,129,0,8,6109	A1A1,A1A2,A1R,A2A2,A2R,RR		1.2724,1.2207,1.2548	,,	,,		149,8,12355				SO:0001651	inframe_deletion	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81592162_81592164delCCT	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.2495_2497delCCT	15.37:g.81592171_81592173delCCT	ENSP00000302935:p.Ser838del					IL16_ENST00000394652.2_In_Frame_Del_p.AS131del|IL16_ENST00000302987.4_In_Frame_Del_p.AS832del|IL16_ENST00000560230.1_3'UTR	p.AS832del	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			14	2855_2857	+			832					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	In_Frame_Del	DEL	ENST00000302987.4	37	c.2495_2497delCCT	CCDS42069.1																																																																																				0.586	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		7	164						7	164	---	---	---	---
CSPG4P5	114817	broad.mit.edu	37	15	84957480	84957499	+	RNA	DEL	GGCCCCACATCCATTGAGAA	GGCCCCACATCCATTGAGAA	-	rs554759799|rs529134831|rs548880213	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA	ENST00000558801.1	-	0	7230_7249									DNM1 pseudogene 51																		TGTGTGCACTGGCCCCACATCCATTGAGAAGGCCCCACAT	0.586														762	0.152157	0.146	0.3256	5008	,	,		24353	0.1339		0.1481	False		,,,				2504	0.0603					ENST00000558801.1																			0																																																			0							g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA			15q25.2	2013-05-16			ENSG00000259297	ENSG00000235370			48500	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000172438		15.37:g.84957480_84957499delGGCCCCACATCCATTGAGAA														0	7230_7249	-									RNA	DEL	ENST00000558801.1	37																																																																																						0.586	DNM1P51-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000471721.1			15	44						15	44	---	---	---	---
POLG	5428	broad.mit.edu	37	15	89876828	89876830	+	In_Frame_Del	DEL	TGC	TGC	-	rs527965158|rs587781117|rs573261648|rs369920352	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:89876828_89876830delTGC	ENST00000268124.5	-	2	489_491	c.156_158delGCA	c.(154-159)cagcaa>caa	p.52_53QQ>Q	RP11-217B1.2_ENST00000562356.1_RNA|POLG_ENST00000442287.2_In_Frame_Del_p.52_53QQ>Q|RP11-217B1.2_ENST00000569473.1_RNA|POLG_ENST00000525806.1_5'Flank	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	52	Poly-Gln.				aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			aggctgctgttgctgctgctgct	0.69								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(154-159)caa>ca	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma																																				SO:0001651	inframe_deletion	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89876828_89876830delTGC	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.156_158delGCA	15.37:g.89876837_89876839delTGC	ENSP00000268124:p.Gln55del					POLG_ENST00000442287.2_In_Frame_Del_p.QQ54del	p.QQ54del	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		2	489_491	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		54			Poly-Gln.		Q8NFM2|Q92515	In_Frame_Del	DEL	ENST00000268124.5	37	c.156_158delGCA	CCDS10350.1																																																																																				0.690	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		7	57						7	57	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102312241	102312241	+	RNA	DEL	A	A	-	rs59860046|rs371768420	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:102312241delA	ENST00000561463.1	+	0	13609				RN7SL209P_ENST00000488309.2_RNA					DNM1 pseudogene 47																		AGTGGCCGGGAAATTTGCTGT	0.592													|||unknown(NO_COVERAGE)	1711	0.341653	0.5144	0.3516	5008	,	,		9688	0.0565		0.5089	False		,,,				2504	0.2229					ENST00000561463.1																			0																																																			0							g.chr15:102312241delA	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102312241delA														0	13609	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.592	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		8	155						8	155	---	---	---	---
RP11-420N3.2	0	broad.mit.edu	37	16	5313074	5313076	+	RNA	DEL	GGT	GGT	-	rs542176654		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:5313074_5313076delGGT	ENST00000569895.1	+	0	304				AC074051.1_ENST00000408882.1_RNA																							GCAGggtgacggtggtggtggtg	0.483																																						ENST00000569895.1																			0																																																			0							g.chr16:5313074_5313076delGGT																													16.37:g.5313083_5313085delGGT														0	304	+									RNA	DEL	ENST00000569895.1	37																																																																																						0.483	RP11-420N3.2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000435404.2			8	204						8	204	---	---	---	---
ATXN2L	11273	broad.mit.edu	37	16	28847356	28847356	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:28847356delC	ENST00000336783.4	+	22	3165	c.2998delC	c.(2998-3000)cccfs	p.P1001fs	ATXN2L_ENST00000340394.8_Frame_Shift_Del_p.P1001fs|ATXN2L_ENST00000382686.4_Frame_Shift_Del_p.P1001fs|ATXN2L_ENST00000395547.2_Frame_Shift_Del_p.P1001fs|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Frame_Shift_Del_p.P1007fs|ATXN2L_ENST00000570200.1_Frame_Shift_Del_p.P1001fs|ATXN2L_ENST00000325215.6_Frame_Shift_Del_p.P1001fs	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	1001					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCATGGGGGGCCCCCCCAAGG	0.687																																						ENST00000336783.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(2998-3000)ccfs		ataxin 2-like							30.0	40.0	37.0					16																	28847356		2145	4238	6383	SO:0001589	frameshift_variant	11273					membrane		g.chr16:28847356delC		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.2998delC	16.37:g.28847356delC	ENSP00000338718:p.Pro1001fs					RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Frame_Shift_Del_p.P1001fs|ATXN2L_ENST00000395547.2_Frame_Shift_Del_p.P1001fs|ATXN2L_ENST00000340394.8_Frame_Shift_Del_p.P1001fs|ATXN2L_ENST00000325215.6_Frame_Shift_Del_p.P1001fs|ATXN2L_ENST00000564304.1_Frame_Shift_Del_p.P1007fs|ATXN2L_ENST00000382686.4_Frame_Shift_Del_p.P1001fs	p.P1001fs	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN			22	3165	+			1001					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Frame_Shift_Del	DEL	ENST00000336783.4	37	c.2998delC	CCDS10641.1																																																																																				0.687	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		7	634						7	634	---	---	---	---
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077696	32077696	+	RNA	DEL	G	G	-	rs536542030		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:32077696delG	ENST00000354689.6	+	0	294				RP11-1166P10.6_ENST00000566806.1_RNA					immunoglobulin heavy variable 3/OR16-9 (non-functional)																		GTGAGGGGAAGTCAGTGAGAG	0.582																																						ENST00000566806.1																			0																																																			0							g.chr16:32077696delG	Z29606		16p11.2	2013-12-06	2008-09-11		ENSG00000270472	ENSG00000270472		"""Immunoglobulins / IGH orphons"""	5644	other	immunoglobulin gene			"""immunoglobulin heavy variable 3/OR16-9"""				Standard			Approved	IGHV3/OR16-9			OTTHUMG00000184753		16.37:g.32077696delG														0	499	-									RNA	DEL	ENST00000354689.6	37																																																																																						0.582	IGHV3OR16-9-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000432530.2			43	893						43	893	---	---	---	---
DRC7	84229	broad.mit.edu	37	16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-	rs143282103		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:57731885_57731887delGGA	ENST00000360716.3	+	3	245_247	c.24_26delGGA	c.(22-27)gtggag>gtg	p.E13del	CCDC135_ENST00000336825.8_In_Frame_Del_p.E13del|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_In_Frame_Del_p.E13del			Q8IY82	CC135_HUMAN		13					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(22-27)gtg>gt		coiled-coil domain containing 135				27,4237		4,19,2109						4.4	1.0		dbSNP_134	66	47,8207		1,45,4081	no	coding	CCDC135	NM_032269.5		5,64,6190	A1A1,A1R,RR		0.5694,0.6332,0.5911				74,12444				SO:0001651	inframe_deletion	84229					cytoplasm		g.chr16:57731885_57731887delGGA																												ENST00000360716.3:c.24_26delGGA	16.37:g.57731894_57731896delGGA	ENSP00000353942:p.Glu13del					RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del|CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del	p.VE8del			Q8IY82	CC135_HUMAN			3	245_247	+			8					A8K943|Q8NAA0|Q9H080	In_Frame_Del	DEL	ENST00000360716.3	37	c.24_26delGGA	CCDS10787.1																																																																																				0.591	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			8	423						8	423	---	---	---	---
SLC9A5	6553	broad.mit.edu	37	16	67300017	67300019	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:67300017_67300019delGAG	ENST00000299798.11	+	15	2172_2174	c.2107_2109delGAG	c.(2107-2109)gagdel	p.E708del	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	708					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CGTGGAGTCTGAGGAGGAGGAGG	0.571																																						ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(2107-2109)del		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5																																				SO:0001651	inframe_deletion	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67300017_67300019delGAG		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.2107_2109delGAG	16.37:g.67300026_67300028delGAG	ENSP00000299798:p.Glu708del						p.E708del	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	15	2172_2174	+		Ovarian(137;0.0563)	708					A5PKY7|Q9Y626	In_Frame_Del	DEL	ENST00000299798.11	37	c.2107_2109delGAG	CCDS42178.1																																																																																				0.571	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			7	267						7	267	---	---	---	---
CDH3	1001	broad.mit.edu	37	16	68718504	68718504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:68718504delA	ENST00000264012.4	+	10	1745	c.1201delA	c.(1201-1203)aaafs	p.K401fs	CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs|CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	401	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TTTTGAGGCCAAAAACCAGCA	0.522																																						ENST00000264012.4																			2	Unknown(2)	p.?(2)	breast(2)	NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25						c.(1201-1203)aafs		cadherin 3, type 1, P-cadherin (placental)							229.0	242.0	238.0					16																	68718504		2198	4300	6498	SO:0001589	frameshift_variant	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68718504delA	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1201delA	16.37:g.68718504delA	ENSP00000264012:p.Lys401fs					CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs|CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs	p.K401fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	10	1745	+		Ovarian(137;0.0564)	401			Cadherin 3.		B2R6F4|Q05DI6	Frame_Shift_Del	DEL	ENST00000264012.4	37	c.1201delA	CCDS10868.1																																																																																				0.522	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		7	1375						7	1375	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs397827801|rs11353924|rs532713769|rs398078750		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438																																						ENST00000429810.2																			0																																																			0							g.chr16:74372915delT																													16.37:g.74372915delT														0	1404	-									RNA	DEL	ENST00000429810.2	37																																																																																						0.438	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			14	19						14	19	---	---	---	---
ITGAE	3682	broad.mit.edu	37	17	3664312	3664314	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:3664312_3664314delTCC	ENST00000263087.4	-	6	689_691	c.591_593delGGA	c.(589-594)gaggaa>gaa	p.197_198EE>E		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	197	Glu-rich (acidic).|X-domain (extra domain).				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CTCACCAGCTtcctcctcctcct	0.586																																					NSCLC(182;635 2928 8995 38788)	ENST00000263087.4																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(589-594)gaa>ga		integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)																																				SO:0001651	inframe_deletion	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3664312_3664314delTCC	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.591_593delGGA	17.37:g.3664321_3664323delTCC	ENSP00000263087:p.Glu198del						p.EE197del	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	6	689_691	-			197			Glu-rich (acidic).|X-domain (extra domain).		Q17RS6|Q9NZU9	In_Frame_Del	DEL	ENST00000263087.4	37	c.591_593delGGA	CCDS32531.1																																																																																				0.586	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		7	422						7	422	---	---	---	---
CNTROB	116840	broad.mit.edu	37	17	7843518	7843519	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:7843518_7843519delGA	ENST00000563694.1	+	9	2194_2195	c.1269_1270delGA	c.(1267-1272)cggagafs	p.RR423fs	CNTROB_ENST00000380262.3_Frame_Shift_Del_p.RR423fs|CNTROB_ENST00000565740.1_Frame_Shift_Del_p.RR423fs|CNTROB_ENST00000380255.3_Frame_Shift_Del_p.RR423fs	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	423	Required for centrosome localization.				centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				ATACAGCTCGGAGAGAGAGAGA	0.579																																						ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(1267-1272)cggafs		centrobin, centrosomal BRCA2 interacting protein																																				SO:0001589	frameshift_variant	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7843518_7843519delGA	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.1269_1270delGA	17.37:g.7843528_7843529delGA	ENSP00000456335:p.Arg423fs					CNTROB_ENST00000380255.3_Frame_Shift_Del_p.RR423fs|CNTROB_ENST00000563694.1_Frame_Shift_Del_p.RR423fs|CNTROB_ENST00000565740.1_Frame_Shift_Del_p.RR423fs	p.RR423fs	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			9	2194_2195	+		Prostate(122;0.173)	423			Required for centrosome localization.		A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Frame_Shift_Del	DEL	ENST00000563694.1	37	c.1269_1270delGA	CCDS11126.1																																																																																				0.579	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		9	799						9	799	---	---	---	---
DHRS7B	25979	broad.mit.edu	37	17	21094331	21094333	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:21094331_21094333delGAA	ENST00000395511.3	+	7	1163_1165	c.843_845delGAA	c.(841-846)gggaag>ggg	p.K285del	DHRS7B_ENST00000581463.1_Intron|DHRS7B_ENST00000579303.1_In_Frame_Del_p.K270del	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	285						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						CTGCTGTGGGGAAGAAGAAGAAA	0.507																																						ENST00000395511.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						c.(841-846)ggg>gg		dehydrogenase/reductase (SDR family) member 7B																																				SO:0001651	inframe_deletion	25979					integral to membrane|peroxisomal membrane	binding|oxidoreductase activity	g.chr17:21094331_21094333delGAA	BC004126	CCDS11215.1	17p12	2011-09-20				ENSG00000109016		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	24547	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 1"""					10810093, 11230166, 19027726	Standard	NM_015510		Approved	DKFZp566O084, MGC8916, CGI-93, SDR32C1	uc002gyo.3	Q6IAN0		ENST00000395511.3:c.843_845delGAA	17.37:g.21094340_21094342delGAA	ENSP00000378887:p.Lys285del					DHRS7B_ENST00000581463.1_Intron|DHRS7B_ENST00000579303.1_In_Frame_Del_p.GK266del	p.GK281del	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN			7	1163_1165	+			281					B5MEF4|Q6UX59|Q9BTF9|Q9UFM6|Q9Y3A1	In_Frame_Del	DEL	ENST00000395511.3	37	c.843_845delGAA	CCDS11215.1																																																																																				0.507	DHRS7B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444066.3	NM_015510		7	1087						7	1087	---	---	---	---
NUFIP2	57532	broad.mit.edu	37	17	27620932	27620934	+	In_Frame_Del	DEL	TGG	TGG	-	rs1054145	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:27620932_27620934delTGG	ENST00000225388.4	-	1	202_204	c.144_146delCCA	c.(142-147)caccat>cat	p.48_49HH>H	NUFIP2_ENST00000579665.1_In_Frame_Del_p.48_49HH>H	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	48	His-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			Ctggtgatgatggtggtggtggt	0.591																																						ENST00000225388.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(142-147)cat>ca		nuclear fragile X mental retardation protein interacting protein 2				45,4219		10,25,2097						1.8	1.0			147	17,8237		3,11,4113	no	coding	NUFIP2	NM_020772.2		13,36,6210	A1A1,A1R,RR		0.206,1.0553,0.4953				62,12456				SO:0001651	inframe_deletion	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27620932_27620934delTGG	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.144_146delCCA	17.37:g.27620941_27620943delTGG	ENSP00000225388:p.His51del					NUFIP2_ENST00000579665.1_In_Frame_Del_p.HH50del	p.HH50del	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		1	202_204	-			50			His-rich.		A1L3A6|Q9P2M5	In_Frame_Del	DEL	ENST00000225388.4	37	c.144_146delCCA	CCDS32600.1																																																																																				0.591	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		7	1063						7	1063	---	---	---	---
PLCD3	113026	broad.mit.edu	37	17	43192760	43192762	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:43192760_43192762delTCC	ENST00000322765.5	-	9	1622_1624	c.1509_1511delGGA	c.(1507-1512)gaggat>gat	p.E503del	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	503					angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.E503D(2)		breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						ctcctcgtcatcctcctcctcct	0.67																																						ENST00000322765.5																			2	Substitution - Missense(2)	p.E503D(2)	prostate(2)	breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						c.(1507-1512)gat>ga		phospholipase C, delta 3	Phosphatidylserine(DB00144)			316,3576		28,260,1658						-0.9	0.0			15	741,7257		61,619,3319	no	coding	PLCD3	NM_133373.3		89,879,4977	A1A1,A1R,RR		9.2648,8.1192,8.8898				1057,10833				SO:0001651	inframe_deletion	113026				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr17:43192760_43192762delTCC	AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.1509_1511delGGA	17.37:g.43192769_43192771delTCC	ENSP00000313731:p.Glu503del					PLCD3_ENST00000540511.1_5'UTR	p.ED503del	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN			9	1622_1624	-			503					Q8TEC1|Q8TF37|Q96FL6	In_Frame_Del	DEL	ENST00000322765.5	37	c.1509_1511delGGA																																																																																					0.670	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_133373		8	85						8	85	---	---	---	---
SPAG9	9043	broad.mit.edu	37	17	49077041	49077041	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:49077041delT	ENST00000262013.7	-	14	1853	c.1645delA	c.(1645-1647)aggfs	p.R549fs	SPAG9_ENST00000510283.1_Frame_Shift_Del_p.R392fs|SPAG9_ENST00000505279.1_Frame_Shift_Del_p.R535fs|SPAG9_ENST00000357122.4_Frame_Shift_Del_p.R535fs	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	549					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.R535fs*28(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			ATGCTTGACCTTTTTTTTTCC	0.323																																						ENST00000262013.7																			1	Deletion - Frameshift(1)	p.R535fs*28(1)	large_intestine(1)	NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(1645-1647)ggfs		sperm associated antigen 9							158.0	136.0	144.0					17																	49077041		2203	4300	6503	SO:0001589	frameshift_variant	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49077041delT	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.1645delA	17.37:g.49077041delT	ENSP00000262013:p.Arg549fs					SPAG9_ENST00000505279.1_Frame_Shift_Del_p.R535fs|SPAG9_ENST00000510283.1_Frame_Shift_Del_p.R392fs|SPAG9_ENST00000357122.4_Frame_Shift_Del_p.R535fs	p.R549fs	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		14	1853	-			549					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Frame_Shift_Del	DEL	ENST00000262013.7	37	c.1645delA	CCDS45740.1																																																																																				0.323	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		8	301						8	301	---	---	---	---
RP11-178C3.1	0	broad.mit.edu	37	17	58050857	58050857	+	IGR	DEL	G	G	-	rs375748922		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:58050857delG	ENST00000591035.1	+	0	481				RP11-178C3.2_ENST00000586209.1_lincRNA																							TTTTTTTTTTGGCAGTTTTTA	0.423																																						ENST00000586209.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:58050857delG																													17.37:g.58050857delG														0	158	+									RNA	DEL	ENST00000591035.1	37																																																																																						0.423	RP11-178C3.1-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000449157.1			13	91						13	91	---	---	---	---
LRRC37A16P	651250	broad.mit.edu	37	17	66141017	66141017	+	RNA	DEL	C	C	-	rs376314569|rs368840037		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:66141017delC	ENST00000590019.1	-	0	70									leucine rich repeat containing 37, member A16, pseudogene																		AAGATTTCTACAAAAAAAAAA	0.323																																						ENST00000590019.1																			0																																																			0							g.chr17:66141017delC			17q24.2	2012-10-18				ENSG00000267023			43820	pseudogene	pseudogene							Standard	NG_023507		Approved				OTTHUMG00000180160		17.37:g.66141017delC														0	70	-									RNA	DEL	ENST00000590019.1	37																																																																																						0.323	LRRC37A16P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000450078.1			20	268						20	268	---	---	---	---
LRRC37A16P	651250	broad.mit.edu	37	17	66141017	66141018	+	RNA	INS	-	-	A	rs376314569|rs368840037		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:66141017_66141018insA	ENST00000590019.1	-	0	70									leucine rich repeat containing 37, member A16, pseudogene																		AAGATTTCTACAAAAAAAAAAA	0.327																																						ENST00000590019.1																			0																																																			0							g.chr17:66141017_66141018insA			17q24.2	2012-10-18				ENSG00000267023			43820	pseudogene	pseudogene							Standard	NG_023507		Approved				OTTHUMG00000180160		17.37:g.66141028_66141028dupA														0	70	-									RNA	INS	ENST00000590019.1	37																																																																																						0.327	LRRC37A16P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000450078.1			7	305						7	305	---	---	---	---
LRRC37A16P	651250	broad.mit.edu	37	17	66141032	66141032	+	RNA	DEL	C	C	-	rs76883902|rs370970351|rs372081386	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:66141032delC	ENST00000590019.1	-	0	70									leucine rich repeat containing 37, member A16, pseudogene																		AAAAAAAAAACATAAGCCAAA	0.338																																						ENST00000590019.1																			0																																																			0							g.chr17:66141032delC			17q24.2	2012-10-18				ENSG00000267023			43820	pseudogene	pseudogene							Standard	NG_023507		Approved				OTTHUMG00000180160		17.37:g.66141032delC														0	70	-									RNA	DEL	ENST00000590019.1	37																																																																																						0.338	LRRC37A16P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000450078.1			17	249						17	249	---	---	---	---
SRP68	6730	broad.mit.edu	37	17	74068528	74068530	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:74068528_74068530delGCC	ENST00000307877.2	-	1	204_206	c.43_45delGGC	c.(43-45)ggcdel	p.G15del	SRP68_ENST00000539137.1_In_Frame_Del_p.G15del|SRP68_ENST00000355113.5_5'UTR|GALR2_ENST00000329003.3_5'Flank	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	15	Poly-Gly.			Missing (in Ref. 1; AAF24308). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						cgccgccactgccgccgccgccg	0.709																																						ENST00000307877.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						c.(43-45)del		signal recognition particle 68kDa				26,1444		5,16,714						-7.9	0.0			11	113,3743		17,79,1832	no	coding	SRP68	NM_014230.2		22,95,2546	A1A1,A1R,RR		2.9305,1.7687,2.6098				139,5187				SO:0001651	inframe_deletion	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74068528_74068530delGCC	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.43_45delGGC	17.37:g.74068537_74068539delGCC	ENSP00000312066:p.Gly15del					SRP68_ENST00000539137.1_In_Frame_Del_p.G15del|SRP68_ENST00000355113.5_5'UTR	p.G15del	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN			1	204_206	-			15	Missing (in Ref. 1).		Poly-Gly.		B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	In_Frame_Del	DEL	ENST00000307877.2	37	c.43_45delGGC	CCDS11738.1																																																																																				0.709	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		7	353						7	353	---	---	---	---
ROCK1P1	727758	broad.mit.edu	37	18	112519	112520	+	RNA	INS	-	-	A	rs199734221		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr18:112519_112520insA	ENST00000608049.1	+	0	389					NR_033770.1				Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1																		CCAGCTCCCCCGGGGCCTCCGT	0.53																																						ENST00000576266.1																			0																																																			0							g.chr18:112519_112520insA			18p11.32	2012-10-04			ENSG00000263006	ENSG00000263006			37832	pseudogene	pseudogene							Standard	NR_033770		Approved		uc002kke.3		OTTHUMG00000177913		18.37:g.112519_112520insA														0	153_154	+									RNA	INS	ENST00000608049.1	37																																																																																						0.530	ROCK1P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472417.1			12	88						12	88	---	---	---	---
MTCL1	23255	broad.mit.edu	37	18	8793004	8793004	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr18:8793004delC	ENST00000359865.3	+	8	2038	c.1896delC	c.(1894-1896)ggcfs	p.G632fs	SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000400050.3_Intron	NM_015210.3	NP_056025.2																					AGCTCAGGGGCCCCCCCGTTT	0.552																																						ENST00000359865.3																			0											c.(1894-1896)ggfs		SOGA family member 2							98.0	108.0	104.0					18																	8793004		2203	4300	6503	SO:0001589	frameshift_variant	23255							g.chr18:8793004delC																												ENST00000359865.3:c.1896delC	18.37:g.8793004delC	ENSP00000352927:p.Gly632fs					SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000400050.3_Intron	p.G632fs	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			8	2038	+			980						Frame_Shift_Del	DEL	ENST00000359865.3	37	c.1896delC	CCDS11841.1																																																																																				0.552	SOGA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254476.1			10	1747						10	1747	---	---	---	---
OSBPL1A	114876	broad.mit.edu	37	18	21745096	21745097	+	Frame_Shift_Ins	INS	-	-	T	rs370244500		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr18:21745096_21745097insT	ENST00000319481.3	-	27	2888_2889	c.2682_2683insA	c.(2680-2685)aaacgafs	p.R895fs	RP11-799B12.4_ENST00000583267.1_lincRNA|OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.R382fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.R513fs	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	895					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TCCTCAAGTCGTTTTTTTTCTT	0.46																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(2680-2685)aagactfs		oxysterol binding protein-like 1A																																				SO:0001589	frameshift_variant	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21745096_21745097insT	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2683dupA	18.37:g.21745104_21745104dupT	ENSP00000320291:p.Arg895fs					OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.T382fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.T513fs	p.T895fs	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			27	2888_2889	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		895					B7Z7D3|Q9BZF5|Q9NW87	Frame_Shift_Ins	INS	ENST00000319481.3	37	c.2682_2683insA	CCDS11884.1																																																																																				0.460	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		16	1534						16	1534	---	---	---	---
HDGFRP2	84717	broad.mit.edu	37	19	4491824	4491824	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:4491824delA	ENST00000301284.4	+	6	734	c.670delA	c.(670-672)aaafs	p.K227fs	HDGFRP2_ENST00000586684.1_Frame_Shift_Del_p.K227fs	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		227	Ser-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GGGGGGACGGAAAAAAAAGGT	0.632																																						ENST00000301284.4																			0											c.(670-672)aafs									44.0	54.0	51.0					19																	4491824		1879	4108	5987	SO:0001589	frameshift_variant	0				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4491824delA																												ENST00000301284.4:c.670delA	19.37:g.4491824delA	ENSP00000301284:p.Lys227fs					HDGFRP2_ENST00000586684.1_Frame_Shift_Del_p.K227fs	p.K227fs	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN			6	734	+			227			Ser-rich.		I3L080|K7EQZ6|Q96GI5|Q9BW08	Frame_Shift_Del	DEL	ENST00000301284.4	37	c.670delA	CCDS42472.1																																																																																				0.632	HDGFRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458642.1			7	529						7	529	---	---	---	---
UHRF1	29128	broad.mit.edu	37	19	4929125	4929125	+	RNA	DEL	C	C	-	rs5826865	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:4929125delC	ENST00000592666.1	+	0	729							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		ATGCAGATTGCCCCCCCCCCA	0.607														1789	0.357228	0.4054	0.4323	5008	,	,		18393	0.2381		0.3082	False		,,,				2504	0.4121					ENST00000592666.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16								ubiquitin-like with PHD and ring finger domains 1																																						29128				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:4929125delC	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4929125delC										Q96T88	UHRF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)	0	729	+								A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	DEL	ENST00000592666.1	37																																																																																						0.607	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201		11	139						11	139	---	---	---	---
CHERP	10523	broad.mit.edu	37	19	16640581	16640583	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:16640581_16640583delTGC	ENST00000198939.6	-	8	1074_1076	c.1038_1040delGCA	c.(1036-1041)cagcaa>caa	p.346_347QQ>Q	CHERP_ENST00000546361.2_In_Frame_Del_p.335_336QQ>Q|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						ctgctgctgttgctgctgctgct	0.67																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(1003-1008)caa>ca		calcium homeostasis endoplasmic reticulum protein																																				SO:0001651	inframe_deletion	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16640581_16640583delTGC	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1038_1040delGCA	19.37:g.16640590_16640592delTGC	ENSP00000198939:p.Gln352del					CHERP_ENST00000198939.6_In_Frame_Del_p.QQ350del|CTD-3222D19.2_ENST00000409035.1_Intron	p.QQ339del	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			8	1156_1158	-			339			Gln-rich.			In_Frame_Del	DEL	ENST00000198939.6	37	c.1005_1007delGCA																																																																																					0.670	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		11	194						11	194	---	---	---	---
CTC-513N18.6	0	broad.mit.edu	37	19	20634038	20634039	+	lincRNA	DEL	TG	TG	-	rs144024329		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:20634038_20634039delTG	ENST00000598131.1	+	0	160																											TTAGTAAAAATGTGTGTGTGTG	0.401																																						ENST00000598131.1																			0																																																			0							g.chr19:20634038_20634039delTG																													19.37:g.20634048_20634049delTG														0	160	+									RNA	DEL	ENST00000598131.1	37																																																																																						0.401	CTC-513N18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000463072.1			11	149						11	149	---	---	---	---
FFAR2	2867	broad.mit.edu	37	19	35940788	35940790	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:35940788_35940790delCTG	ENST00000599180.2	+	2	252_254	c.172_174delCTG	c.(172-174)ctgdel	p.L62del	FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	62					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	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)			CGACCTCCTCCTGCTGCTGCTGC	0.645																																					GBM(40;139 809 9833 23358 48736)	ENST00000599180.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22						c.(172-174)del		free fatty acid receptor 2																																				SO:0001651	inframe_deletion	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35940788_35940790delCTG	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.172_174delCTG	19.37:g.35940797_35940799delCTG	ENSP00000473159:p.Leu62del					FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del	p.L62del			O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	252_254	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		62					B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	In_Frame_Del	DEL	ENST00000599180.2	37	c.172_174delCTG	CCDS12461.1																																																																																				0.645	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		7	318						7	318	---	---	---	---
PVRL2	5819	broad.mit.edu	37	19	45381749	45381751	+	Intron	DEL	GAG	GAG	-	rs558397688	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:45381749_45381751delGAG	ENST00000252483.5	+	6	1042				PVRL2_ENST00000252485.4_In_Frame_Del_p.E445del	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)						acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TGGCAaggatgaggaggaggagg	0.591														41	0.0081869	0.0197	0.0014	5008	,	,		15541	0.003		0.003	False		,,,				2504	0.0082					ENST00000252485.4																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13						c.(1312-1314)del		poliovirus receptor-related 2 (herpesvirus entry mediator B)			,	121,4143		6,109,2017					,	-4.6	0.1			51	244,8010		12,220,3895	no	coding,intron	PVRL2	NM_002856.2,NM_001042724.1	,	18,329,5912	A1A1,A1R,RR		2.9561,2.8377,2.9158	,	,		365,12153				SO:0001627	intron_variant	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45381749_45381751delGAG	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1043-3717GAG>-	19.37:g.45381758_45381760delGAG						PVRL2_ENST00000252483.5_Intron	p.E445del	NM_002856.2	NP_002847.1	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	6	1663_1665	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	504					A8K5L5|O75455|Q6IBI6|Q96J29	In_Frame_Del	DEL	ENST00000252483.5	37	c.1312_1314delGAG	CCDS42576.1																																																																																				0.591	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		7	154						7	154	---	---	---	---
SIGLEC16	400709	broad.mit.edu	37	19	50474857	50474861	+	RNA	DEL	GACGC	GACGC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:50474857_50474861delGACGC	ENST00000602139.1	+	0	998							A6NMB1	SIG16_HUMAN	sialic acid binding Ig-like lectin 16 (gene/pseudogene)						cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|lung(6)	10						CAGTCTCCAGGACGCTTCCCTTTGC	0.566																																						ENST00000602139.1																			0				endometrium(2)|kidney(2)|lung(6)	10								sialic acid binding Ig-like lectin 16 (gene/pseudogene)																																						400709							g.chr19:50474857_50474861delGACGC	BC030222		19q13.33	2014-03-20	2008-08-04	2008-08-04	ENSG00000161643	ENSG00000161643		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24851	protein-coding gene	gene with protein product			"""sialic acid binding Ig-like lectin, pseudogene 16"""	SIGLECP16		11986327, 18629938	Standard	NR_002825		Approved	Siglec-P16	uc002prf.3	A6NMB1	OTTHUMG00000183074		19.37:g.50474857_50474861delGACGC														0	998	+									RNA	DEL	ENST00000602139.1	37																																																																																						0.566	SIGLEC16-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000464979.1	NR_002825		10	266						10	266	---	---	---	---
ZNF880	400713	broad.mit.edu	37	19	52877717	52877717	+	Intron	DEL	T	T	-	rs77187934		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:52877717delT	ENST00000422689.2	+	3	283				ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000597976.1_Frame_Shift_Del_p.I102fs	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GGCCCCATAAttttttttttt	0.473																																						ENST00000597976.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						c.(304-306)atfs		zinc finger protein 880				279,569,2978		19,4,237,24,517,1112	16.0	16.0	16.0			1.2	0.0	19		17	673,1156,5999		28,27,590,42,1045,2182	no	intron	ZNF880	NM_001145434.1		47,31,827,66,1562,3294	A1A1,A1A2,A1R,A2A2,A2R,RR		23.3648,22.1641,22.9707			52877717	952,1725,8977	692	1591	2283	SO:0001627	intron_variant	400713				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:52877717delT	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.268+37T>-	19.37:g.52877717delT						ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000422689.2_Intron	p.I102fs			Q6PDB4	ZN880_HUMAN			3	325	+			0					B4DNA6	Frame_Shift_Del	DEL	ENST00000422689.2	37	c.305delT	CCDS46164.1																																																																																				0.473	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434		9	51						9	51	---	---	---	---
LILRB3	11025	broad.mit.edu	37	19	54721186	54721186	+	Splice_Site	DEL	A	A	-	rs560928027	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:54721186delA	ENST00000391750.1	-	13	1886		c.e13+1		LILRB3_ENST00000245620.9_Splice_Site|LILRB3_ENST00000469273.1_Splice_Site|LILRA6_ENST00000270464.5_Splice_Site|LILRA6_ENST00000440558.2_Splice_Site|LILRA6_ENST00000419410.2_Splice_Site|LILRB3_ENST00000346401.6_Splice_Site|LILRA6_ENST00000391735.3_Splice_Site|LILRB3_ENST00000424807.1_Splice_Site|LILRB3_ENST00000407860.2_Splice_Site			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAAAGGACTCACCTCAGTGTC	0.607													|||unknown(NO_COVERAGE)	4	0.000798722	0.0015	0.0014	5008	,	,		15822	0.0		0.001	False		,,,				2504	0.0					ENST00000391750.1																			0				endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34						c.e13+1		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3			,	273,3943		12,249,1847	90.0	90.0	90.0		,	-0.9	0.0	19		93	386,7868		0,386,3741	no	splice-5,splice-5	LILRB3	NM_006864.2,NM_001081450.1	,	12,635,5588	A1A1,A1R,RR		4.6765,6.4753,5.2847	,	,	54721186	659,11811	2167	4299	6466	SO:0001630	splice_region_variant	11025				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54721186delA	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1749+1T>-	19.37:g.54721186delA						LILRA6_ENST00000440558.2_Splice_Site|LILRB3_ENST00000469273.1_Splice_Site|LILRA6_ENST00000391735.3_Splice_Site|LILRB3_ENST00000424807.1_Splice_Site|LILRB3_ENST00000407860.2_Splice_Site|LILRA6_ENST00000419410.2_Splice_Site|LILRB3_ENST00000346401.6_Splice_Site|LILRA6_ENST00000270464.5_Splice_Site|LILRB3_ENST00000245620.9_Splice_Site				O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1886	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)							C9J1P3|C9JIP1|O15471|Q86U49	Splice_Site	DEL	ENST00000391750.1	37		CCDS33105.1																																																																																				0.607	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864	Intron	10	311						10	311	---	---	---	---
NLRP2	55655	broad.mit.edu	37	19	55494630	55494632	+	In_Frame_Del	DEL	GAA	GAA	-	rs3745905|rs386811006|rs61735083	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:55494630_55494632delGAA	ENST00000543010.1	+	6	1707_1709	c.1564_1566delGAA	c.(1564-1566)gaadel	p.E523del	NLRP2_ENST00000538819.1_In_Frame_Del_p.E499del|NLRP2_ENST00000339757.7_In_Frame_Del_p.E501del|NLRP2_ENST00000537859.1_In_Frame_Del_p.E501del|NLRP2_ENST00000263437.6_In_Frame_Del_p.E520del|NLRP2_ENST00000448584.2_In_Frame_Del_p.E523del|NLRP2_ENST00000427260.2_In_Frame_Del_p.E500del|NLRP2_ENST00000391721.4_In_Frame_Del_p.E499del	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	523	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Poly-Glu.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAAGGAGGAGGAAGAGGATAGGG	0.567																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(1564-1566)del		NLR family, pyrin domain containing 2																																				SO:0001651	inframe_deletion	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494630_55494632delGAA	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1564_1566delGAA	19.37:g.55494630_55494632delGAA	ENSP00000445135:p.Glu523del					NLRP2_ENST00000427260.2_In_Frame_Del_p.E500del|NLRP2_ENST00000391721.4_In_Frame_Del_p.E499del|NLRP2_ENST00000263437.6_In_Frame_Del_p.E520del|NLRP2_ENST00000448584.2_In_Frame_Del_p.E523del|NLRP2_ENST00000339757.7_In_Frame_Del_p.E501del|NLRP2_ENST00000538819.1_In_Frame_Del_p.E499del|NLRP2_ENST00000537859.1_In_Frame_Del_p.E501del	p.E523del	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	1707_1709	+			523			NACHT.|Poly-Glu.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	In_Frame_Del	DEL	ENST00000543010.1	37	c.1564_1566delGAA	CCDS12913.1																																																																																				0.567	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		7	535						7	535	---	---	---	---
ZNF416	55659	broad.mit.edu	37	19	58084579	58084579	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:58084579delA	ENST00000196489.3	-	4	915	c.693delT	c.(691-693)tttfs	p.F231fs		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	231					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(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CTCTAGGGTGAAAAAAAGTGT	0.453																																						ENST00000196489.3																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22						c.(691-693)ttfs		zinc finger protein 416							161.0	161.0	161.0					19																	58084579		2203	4300	6503	SO:0001589	frameshift_variant	55659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58084579delA	BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"""Zinc fingers, C2H2-type"", ""-"""	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.693delT	19.37:g.58084579delA	ENSP00000196489:p.Phe231fs						p.F231fs	NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	4	915	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	231					Q9NWW8	Frame_Shift_Del	DEL	ENST00000196489.3	37	c.693delT	CCDS12954.1																																																																																				0.453	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		7	1166						7	1166	---	---	---	---
CSRP2BP	57325	broad.mit.edu	37	20	18142695	18142695	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:18142695delA	ENST00000435364.3	+	5	1255	c.914delA	c.(913-915)gaafs	p.E305fs	CSRP2BP_ENST00000489634.2_Frame_Shift_Del_p.E177fs|CSRP2BP_ENST00000377681.3_Frame_Shift_Del_p.E304fs	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	1044						9	1044	---	---	---	---
KIZ-AS1	101929591	broad.mit.edu	37	20	21143813	21143814	+	RNA	INS	-	-	T	rs536341837|rs371455437		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:21143813_21143814insT	ENST00000591761.1	-	0	5051				PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA																							AAGCCATTCAATTTTTTTTTTC	0.371																																						ENST00000591761.1																			0																																																			0							g.chr20:21143813_21143814insT																													20.37:g.21143823_21143823dupT						PLK1S1_ENST00000457464.1_RNA								0	5051	-									RNA	INS	ENST00000591761.1	37																																																																																						0.371	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			14	468						14	468	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29628310	29628312	+	In_Frame_Del	DEL	AGG	AGG	-	rs111939959		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:29628310_29628312delAGG	ENST00000278882.3	+	6	692_694	c.312_314delAGG	c.(310-315)gcagga>gca	p.G105del	FRG1B_ENST00000358464.4_In_Frame_Del_p.G105del|FRG1B_ENST00000439954.2_In_Frame_Del_p.G110del			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	105										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTAAAACAGCAGGAGAAGAAGAA	0.355																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(310-315)gca>gc																																						SO:0001651	inframe_deletion	0							g.chr20:29628310_29628312delAGG			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.312_314delAGG	20.37:g.29628310_29628312delAGG	ENSP00000278882:p.Gly105del					FRG1B_ENST00000358464.4_In_Frame_Del_p.AG104del|FRG1B_ENST00000439954.2_In_Frame_Del_p.AG109del	p.AG104del							6	692_694	+								C4AME5	In_Frame_Del	DEL	ENST00000278882.3	37	c.312_314delAGG																																																																																					0.355	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	527						7	527	---	---	---	---
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:56099187delT	ENST00000608263.1	-	1	736	c.75delA	c.(73-75)aaafs	p.K25fs	CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000481655.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000608440.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608425.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000609232.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000423479.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000608158.1_Frame_Shift_Del_p.K25fs	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	25					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502																																						ENST00000426658.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(73-75)aafs		CCCTC-binding factor (zinc finger protein)-like							231.0	258.0	249.0					20																	56099187		2203	4300	6503	SO:0001589	frameshift_variant	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56099187delT		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.75delA	20.37:g.56099187delT	ENSP00000476783:p.Lys25fs					CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000502686.2_Intron	p.K25fs			Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		1	736	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		25					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Frame_Shift_Del	DEL	ENST00000608263.1	37	c.75delA	CCDS13459.1																																																																																				0.502	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		11	1908						11	1908	---	---	---	---
APCDD1L	164284	broad.mit.edu	37	20	57036519	57036520	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:57036519_57036520insG	ENST00000371149.3	-	4	1062_1063	c.832_833insC	c.(832-834)ctgfs	p.L278fs	APCDD1L_ENST00000439429.1_Frame_Shift_Ins_p.L289fs|APCDD1L_ENST00000491015.1_5'UTR	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	278						integral component of membrane (GO:0016021)				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GCCCAGGTGCAGGGGCAGGGCC	0.708																																						ENST00000371149.3																			0				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18						c.(832-834)gcafs		adenomatosis polyposis coli down-regulated 1-like																																				SO:0001589	frameshift_variant	164284					integral to membrane		g.chr20:57036519_57036520insG	AK074647	CCDS13467.1	20q13.32	2006-07-07			ENSG00000198768	ENSG00000198768			26892	protein-coding gene	gene with protein product							Standard	NM_153360		Approved	FLJ90166	uc002xze.1	Q8NCL9	OTTHUMG00000032845	ENST00000371149.3:c.833dupC	20.37:g.57036523_57036523dupG	ENSP00000360191:p.Leu278fs					APCDD1L_ENST00000439429.1_Frame_Shift_Ins_p.A289fs|APCDD1L_ENST00000491015.1_5'UTR	p.A278fs	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)		4	1062_1063	-	Lung NSC(12;0.000856)|all_lung(29;0.0025)		278						Frame_Shift_Ins	INS	ENST00000371149.3	37	c.832_833insC	CCDS13467.1																																																																																				0.708	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000079881.2	NM_153360		18	23						18	23	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61511303	61511303	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:61511303delT	ENST00000266070.4	-	16	6330	c.6005delA	c.(6004-6006)aatfs	p.N2002fs	DIDO1_ENST00000395343.1_Frame_Shift_Del_p.N2002fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2002	Pro-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGTCTGCTCATTTTTTTCAGA	0.622																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(6004-6006)atfs		death inducer-obliterator 1							71.0	88.0	82.0					20																	61511303		2202	4298	6500	SO:0001589	frameshift_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511303delT	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.6005delA	20.37:g.61511303delT	ENSP00000266070:p.Asn2002fs					DIDO1_ENST00000395343.1_Frame_Shift_Del_p.N2002fs	p.N2002fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	6330	-	Breast(26;5.68e-08)		2002			Pro-rich.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Frame_Shift_Del	DEL	ENST00000266070.4	37	c.6005delA	CCDS33506.1																																																																																				0.622	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		8	1320						8	1320	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11038813	11038814	+	RNA	INS	-	-	T	rs144107885|rs71292114		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr21:11038813_11038814insT	ENST00000470054.1	-	0	1389_1390							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)		TGACTGAGATGTAAGTTGTTGG	0.446																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11038813_11038814insT	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.11038814_11038814dupT												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	1389_1390	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.446	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		11	1574						11	1574	---	---	---	---
LA16c-23H5.4	0	broad.mit.edu	37	22	16419352	16419352	+	RNA	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr22:16419352delT	ENST00000444162.1	+	0	279																											GAATCGACGATTTTTTTTTTG	0.398																																						ENST00000444162.1																			0																																																			0							g.chr22:16419352delT																													22.37:g.16419352delT														0	279	+									RNA	DEL	ENST00000444162.1	37																																																																																						0.398	LA16c-23H5.4-004	KNOWN	basic	antisense	antisense	OTTHUMT00000074929.2			8	32						8	32	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36696948	36696950	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr22:36696948_36696950delCTC	ENST00000216181.5	-	22	3015_3017	c.2785_2787delGAG	c.(2785-2787)gagdel	p.E929del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	929					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTGGCAGCGCTCCTCCTCCTCC	0.665			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(2785-2787)del		myosin, heavy chain 9, non-muscle																																				SO:0001651	inframe_deletion	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36696948_36696950delCTC		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2785_2787delGAG	22.37:g.36696957_36696959delCTC	ENSP00000216181:p.Glu929del						p.E929del	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			22	3015_3017	-			929					A8K6E4|O60805|Q60FE2|Q86T83	In_Frame_Del	DEL	ENST00000216181.5	37	c.2785_2787delGAG	CCDS13927.1																																																																																				0.665	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		15	789						15	789	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38120470	38120472	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr22:38120470_38120472delCCT	ENST00000406386.3	+	7	2162_2164	c.1907_1909delCCT	c.(1906-1911)gcctcc>gcc	p.S638del		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	638					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAA	0.586																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1906-1911)gcc>g		TRIO and F-actin binding protein																																				SO:0001651	inframe_deletion	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120470_38120472delCCT	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1907_1909delCCT	22.37:g.38120473_38120475delCCT	ENSP00000384312:p.Ser638del					RP1-37E16.12_ENST00000455236.1_RNA	p.AS636del	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	2162_2164	+	Melanoma(58;0.0574)		636					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	In_Frame_Del	DEL	ENST00000406386.3	37	c.1907_1909delCCT	CCDS43015.1																																																																																				0.586	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			8	721						8	721	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610573	42610575	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr22:42610573_42610575delAGG	ENST00000359486.3	-	1	873_875	c.737_739delCCT	c.(736-741)tccttc>ttc	p.S246del	TCF20_ENST00000335626.4_In_Frame_Del_p.S246del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	246	Ser-rich.				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						GGTGAAGGGAaggaggaggagga	0.507																																						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.(736-741)ttc>t		transcription factor 20 (AR1)																																				SO:0001651	inframe_deletion	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610573_42610575delAGG	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.737_739delCCT	22.37:g.42610582_42610584delAGG	ENSP00000352463:p.Ser246del					TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del	p.SF246del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	873_875	-			246			Ser-rich.		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	In_Frame_Del	DEL	ENST00000359486.3	37	c.737_739delCCT	CCDS14033.1																																																																																				0.507	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		16	468						16	468	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610776	42610778	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr22:42610776_42610778delTGC	ENST00000359486.3	-	1	670_672	c.534_536delGCA	c.(532-537)cagcaa>caa	p.178_179QQ>Q	TCF20_ENST00000335626.4_In_Frame_Del_p.178_179QQ>Q	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	178	Poly-Gln.				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						CTGCTGGACTTGCTGCTGCTGCT	0.571																																						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.(532-537)caa>ca		transcription factor 20 (AR1)																																				SO:0001651	inframe_deletion	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610776_42610778delTGC	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.534_536delGCA	22.37:g.42610785_42610787delTGC	ENSP00000352463:p.Gln179del					TCF20_ENST00000335626.4_In_Frame_Del_p.QQ178del	p.QQ178del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	670_672	-			178			Poly-Gln.		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	In_Frame_Del	DEL	ENST00000359486.3	37	c.534_536delGCA	CCDS14033.1																																																																																				0.571	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		8	460						8	460	---	---	---	---
PHF8	23133	broad.mit.edu	37	X	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chrX:54011405_54011407delCTC	ENST00000357988.5	-	18	2849_2851	c.2491_2493delGAG	c.(2491-2493)gagdel	p.E831del	PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000338154.6_In_Frame_Del_p.E795del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GACTGGCGTTCTCCTCCTCCTCC	0.591																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(2383-2385)del		PHD finger protein 8																																				SO:0001651	inframe_deletion	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54011405_54011407delCTC	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2491_2493delGAG	X.37:g.54011414_54011416delCTC	ENSP00000350676:p.Glu831del					PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del	p.E795del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN			18	2887_2889	-			831			Ser-rich.		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	In_Frame_Del	DEL	ENST00000357988.5	37	c.2383_2385delGAG	CCDS55420.1																																																																																				0.591	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		10	458						10	458	---	---	---	---
BHLHB9	80823	broad.mit.edu	37	X	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)gagdel	p.E171del	BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	171	Poly-Glu.				learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488																																						ENST00000372735.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(496-498)del		basic helix-loop-helix domain containing, class B, 9																																				SO:0001651	inframe_deletion	80823					cytoplasm|nucleus	binding	g.chrX:102004419_102004421delGAG	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.496_498delGAG	X.37:g.102004428_102004430delGAG	ENSP00000361820:p.Glu171del					BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del	p.E171del			Q6PI77	BHLH9_HUMAN			4	1081_1083	+			171			Poly-Glu.		Q9C0G2	In_Frame_Del	DEL	ENST00000372735.1	37	c.496_498delGAG	CCDS14502.1																																																																																				0.488	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		10	590						10	590	---	---	---	---
IRS4	8471	broad.mit.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(1771-1773)gaafs		insulin receptor substrate 4				32,3681		0,19,13,1569,524						4.0	0.4			181	25,6453		0,7,18,2347,1752	no	frameshift	IRS4	NM_003604.2		0,26,31,3916,2276	A1A1,A1R,A1,RR,R		0.3859,0.8618,0.5593				57,10134				SO:0001589	frameshift_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977802_107977803insC	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1773dupG	X.37:g.107977810_107977810dupC	ENSP00000361202:p.Gly591fs						p.E591fs	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	1848_1849	-			591						Frame_Shift_Ins	INS	ENST00000372129.2	37	c.1772_1773insG	CCDS14544.1																																																																																				0.545	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		10	994						10	994	---	---	---	---
