#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
TAAR9	134860	broad.mit.edu	37	6	132859788	132859788	+	RNA	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr6:132859788A>T	ENST00000434551.1	+	0	360					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TTGCTTCTTTATTTCATTTAT	0.403																																					Colon(10;433 445 15992 45047 47213)	ENST00000434551.1																			0													trace amine associated receptor 9 (gene/pseudogene)							174.0	165.0	168.0					6																	132859788		2041	4198	6239			134860					plasma membrane	G-protein coupled receptor activity	g.chr6:132859788A>T	AF380189	CCDS75520.1	6q23.2	2013-10-02	2010-03-12	2005-02-24	ENSG00000237110	ENSG00000237110		"""GPCR / Class A : Trace amine associated receptors"""	20977	protein-coding gene	gene with protein product		608282	"""trace amine receptor 3"", ""trace amine associated receptor 9"""	TRAR3		15718104	Standard	NM_175057		Approved	TA3, TAR3	uc011eci.2	Q96RI9	OTTHUMG00000015578		6.37:g.132859788A>T								NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)	0	360	+	Breast(56;0.112)								RNA	SNP	ENST00000434551.1	37																																																																																						0.403	TAAR9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000042254.2	NM_175057		5	177	0	0	0	1	0	5	177				
FSHR	2492	broad.mit.edu	37	2	49189874	49189874	+	Nonstop_Mutation	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr2:49189874A>T	ENST00000406846.2	-	10	2205	c.2086T>A	c.(2086-2088)Taa>Aaa	p.*696K	FSHR_ENST00000541117.1_Nonstop_Mutation_p.*432K|FSHR_ENST00000346173.3_Nonstop_Mutation_p.*634K|FSHR_ENST00000304421.4_Nonstop_Mutation_p.*670K	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	0					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	ATTGTGTTTTAGTTTTGGGCT	0.423									Gonadal Dysgenesis, 46 XX																													ENST00000406846.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(2086-2088)Taa>Aaa		follicle stimulating hormone receptor	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						117.0	114.0	115.0					2																	49189874		2203	4300	6503	SO:0001578	stop_lost	2492	Gonadal Dysgenesis, 46 XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49189874A>T		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.2086T>A	2.37:g.49189874A>T						FSHR_ENST00000304421.4_Nonstop_Mutation_p.*670K|FSHR_ENST00000541117.1_Nonstop_Mutation_p.*432K|FSHR_ENST00000346173.3_Nonstop_Mutation_p.*634K	p.*696K	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	2205	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	0					A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Nonstop_Mutation	SNP	ENST00000406846.2	37	c.2086T>A	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	A	10.18	1.279926	0.23392	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	.	.	.	5.08	2.77	0.32553	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3909	0.38372	0.8466:0.0:0.1534:0.0	.	.	.	.	K	696;634;670;432	.	.	X	-	1	0	FSHR	49043378	0.959000	0.32827	0.626000	0.29213	0.645000	0.38454	1.988000	0.40697	1.065000	0.40693	-0.274000	0.10170	TAA		0.423	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			5	141	0	0	0	1	0	5	141				
IGFBP5	3488	broad.mit.edu	37	2	217541537	217541537	+	Silent	SNP	T	T	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr2:217541537T>C	ENST00000233813.4	-	4	1505	c.756A>G	c.(754-756)ccA>ccG	p.P252P		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	252	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942)	insulin-like growth factor I binding (GO:0031994)			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTCCATGCCTGGCAGCTTCA	0.607																																						ENST00000233813.4																			0				endometrium(1)|large_intestine(3)|lung(1)	5						c.(754-756)ccA>ccG		insulin-like growth factor binding protein 5							210.0	168.0	182.0					2																	217541537		2203	4300	6503	SO:0001819	synonymous_variant	3488				negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding	g.chr2:217541537T>C		CCDS2405.1	2q35	2014-09-16			ENSG00000115461	ENSG00000115461			5474	protein-coding gene	gene with protein product		146734				7511611	Standard	NM_000599		Approved		uc002vgj.4	P24593	OTTHUMG00000133058	ENST00000233813.4:c.756A>G	2.37:g.217541537T>C							p.P252P	NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1505	-		Renal(323;0.0822)	252			Thyroglobulin type-1.		Q5U0A3	Silent	SNP	ENST00000233813.4	37	c.756A>G	CCDS2405.1																																																																																				0.607	IGFBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256674.2	NM_000599		4	365	0	0	0	1	0	4	365				
KIF5A	3798	broad.mit.edu	37	12	57957964	57957964	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr12:57957964C>G	ENST00000455537.2	+	4	639	c.365C>G	c.(364-366)tCc>tGc	p.S122C	KIF5A_ENST00000286452.5_Intron	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	122	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CACATCTACTCCATGGATGAG	0.517																																						ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(364-366)tCc>tGc		kinesin family member 5A							105.0	89.0	95.0					12																	57957964		2203	4300	6503	SO:0001583	missense	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57957964C>G	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.365C>G	12.37:g.57957964C>G	ENSP00000408979:p.Ser122Cys					KIF5A_ENST00000286452.5_Intron	p.S122C	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN			4	639	+			122			Kinesin-motor.		A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.365C>G	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839420	0.91117	.	.	ENSG00000155980	ENST00000455537	T	0.76186	-1.0	4.87	4.87	0.63330	Kinesin, motor domain (4);	0.119652	0.56097	D	0.000029	T	0.80747	0.4682	M	0.78456	2.415	0.80722	D	1	P	0.47350	0.894	P	0.48368	0.575	D	0.83888	0.0283	10	0.66056	D	0.02	.	17.3316	0.87265	0.0:1.0:0.0:0.0	.	122	Q12840	KIF5A_HUMAN	C	122	ENSP00000408979:S122C	ENSP00000408979:S122C	S	+	2	0	KIF5A	56244231	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.656000	0.67988	2.691000	0.91804	0.655000	0.94253	TCC		0.517	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		3	95	0	0	0	1	0	3	95				
DNAH3	55567	broad.mit.edu	37	16	20990695	20990695	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr16:20990695C>T	ENST00000261383.3	-	50	8032	c.8033G>A	c.(8032-8034)cGc>cAc	p.R2678H	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2678	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGTCAGGTAGCGGTTCCTCAT	0.512																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(8032-8034)cGc>cAc		dynein, axonemal, heavy chain 3							121.0	112.0	115.0					16																	20990695		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20990695C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.8033G>A	16.37:g.20990695C>T	ENSP00000261383:p.Arg2678His					DNAH3_ENST00000415178.1_3'UTR	p.R2678H	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	50	8032	-			2678			Stalk (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.8033G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106140	0.77096	.	.	ENSG00000158486	ENST00000261383	T	0.80994	-1.44	6.16	6.16	0.99307	Dynein heavy chain, coiled coil stalk (1);	0.075480	0.56097	D	0.000022	D	0.86552	0.5960	M	0.93462	3.42	0.80722	D	1	P	0.48911	0.917	B	0.42555	0.391	D	0.89741	0.3933	10	0.87932	D	0	.	15.8763	0.79166	0.0:0.9342:0.0:0.0658	.	2678	Q8TD57	DYH3_HUMAN	H	2678	ENSP00000261383:R2678H	ENSP00000261383:R2678H	R	-	2	0	DNAH3	20898196	1.000000	0.71417	1.000000	0.80357	0.365000	0.29674	4.934000	0.63491	2.937000	0.99478	0.650000	0.86243	CGC		0.512	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		4	89	0	0	0	1	0	4	89				
OR4A47	403253	broad.mit.edu	37	11	48511101	48511101	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr11:48511101A>T	ENST00000446524.1	+	1	833	c.757A>T	c.(757-759)Att>Ttt	p.I253F		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	253						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)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGTTCCTTGTATTTTTATGTA	0.428																																						ENST00000446524.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(757-759)Att>Ttt		olfactory receptor, family 4, subfamily A, member 47							210.0	203.0	206.0					11																	48511101		2201	4298	6499	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48511101A>T	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.757A>T	11.37:g.48511101A>T	ENSP00000412752:p.Ile253Phe						p.I253F	NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN			1	833	+			253						Missense_Mutation	SNP	ENST00000446524.1	37	c.757A>T	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	12.88	2.071358	0.36566	.	.	ENSG00000237388	ENST00000446524	T	0.38887	1.11	4.59	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.112422	0.39759	N	0.001267	T	0.53254	0.1785	L	0.49256	1.55	0.34554	D	0.711651	D	0.71674	0.998	D	0.70935	0.971	T	0.66284	-0.5962	10	0.87932	D	0	.	7.5947	0.28041	0.8099:0.0:0.0:0.1901	.	253	Q6IF82	O4A47_HUMAN	F	253	ENSP00000412752:I253F	ENSP00000412752:I253F	I	+	1	0	OR4A47	48467677	0.000000	0.05858	1.000000	0.80357	0.308000	0.27856	0.243000	0.18106	1.692000	0.51112	0.172000	0.16884	ATT		0.428	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		6	649	0	0	0	1	0	6	649				
CCDC91	55297	broad.mit.edu	37	12	28458580	28458580	+	Splice_Site	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr12:28458580A>T	ENST00000545336.1	+	7	528		c.e7-1		CCDC91_ENST00000381256.1_Splice_Site|CCDC91_ENST00000539107.1_Splice_Site|CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000540401.1_Splice_Site			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91						protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GTTTTTCTTTAGTATCTGGAG	0.393																																						ENST00000545336.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22						c.e7-1		coiled-coil domain containing 91							191.0	185.0	187.0					12																	28458580		2203	4300	6503	SO:0001630	splice_region_variant	55297				protein transport	Golgi apparatus|membrane		g.chr12:28458580A>T	AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.110-1A>T	12.37:g.28458580A>T						CCDC91_ENST00000539107.1_Splice_Site|CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000381256.1_Splice_Site|CCDC91_ENST00000540401.1_Splice_Site				Q7Z6B0	CCD91_HUMAN			7	528	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)							B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Splice_Site	SNP	ENST00000545336.1	37		CCDS8716.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.368066	0.24771	.	.	ENSG00000123106	ENST00000538586;ENST00000539107;ENST00000536442;ENST00000545336;ENST00000543534;ENST00000545737;ENST00000381259;ENST00000381256;ENST00000306172	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0599	0.47942	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC91	28349847	0.998000	0.40836	0.923000	0.36655	0.233000	0.25261	4.431000	0.59915	2.172000	0.68678	0.477000	0.44152	.		0.393	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318	Intron	7	359	0	0	0	1	0	7	359				
SOS2	6655	broad.mit.edu	37	14	50626628	50626628	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr14:50626628T>C	ENST00000216373.5	-	10	1647	c.1373A>G	c.(1372-1374)cAt>cGt	p.H458R	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.H425R	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	458	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CAGAAAAATATGCCGTTCATG	0.388																																						ENST00000216373.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39						c.(1372-1374)cAt>cGt		son of sevenless homolog 2 (Drosophila)							185.0	175.0	178.0					14																	50626628		2203	4300	6503	SO:0001583	missense	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50626628T>C	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.1373A>G	14.37:g.50626628T>C	ENSP00000216373:p.His458Arg					SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.H425R	p.H458R	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN			10	1647	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		458			PH.		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.1373A>G	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	T	12.99	2.102691	0.37145	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.75367	-0.93;-0.93	5.56	5.56	0.83823	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.70055	0.3180	L	0.54908	1.71	0.80722	D	1	B;B;B	0.24651	0.025;0.108;0.028	B;B;B	0.23852	0.035;0.049;0.037	T	0.65734	-0.6096	10	0.24483	T	0.36	.	15.7129	0.77644	0.0:0.0:0.0:1.0	.	425;488;458	B7ZKT6;Q59G32;Q07890	.;.;SOS2_HUMAN	R	458;425	ENSP00000216373:H458R;ENSP00000445328:H425R	ENSP00000216373:H458R	H	-	2	0	SOS2	49696378	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.964000	0.87933	2.111000	0.64477	0.528000	0.53228	CAT		0.388	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			90	140	0	0	0	1	0	90	140				
PKD1L2	114780	broad.mit.edu	37	16	81190482	81190482	+	RNA	SNP	G	G	A	rs375515044		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr16:81190482G>A	ENST00000525539.1	-	0	4106				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GATCCTGAGCGTCCTTCCTCC	0.547													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19594	0.0		0.0	False		,,,				2504	0.0					ENST00000533478.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2		G		1,4339		0,1,2169	57.0	59.0	59.0		4107	-5.2	0.2	16		59	0,8538		0,0,4269	no	coding-synonymous	PKD1L2	NM_052892.3		0,1,6438	AA,AG,GG		0.0,0.023,0.0078		1369/2460	81190482	1,12877	2170	4269	6439			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81190482G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81190482G>A						PKD1L2_ENST00000525539.1_RNA		NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN			0	2162	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000525539.1	37																																																																																						0.547	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			13	19	0	0	0	1	0	13	19				
PTPDC1	138639	broad.mit.edu	37	9	96857602	96857602	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr9:96857602A>T	ENST00000375360.3	+	6	798	c.458A>T	c.(457-459)tAc>tTc	p.Y153F	PTPDC1_ENST00000288976.3_Missense_Mutation_p.Y205F	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	153					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TTCCTAGTTTACTTCTACAAT	0.353																																						ENST00000375360.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(457-459)tAc>tTc		protein tyrosine phosphatase domain containing 1							131.0	134.0	133.0					9																	96857602		2203	4300	6503	SO:0001583	missense	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96857602A>T	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.458A>T	9.37:g.96857602A>T	ENSP00000364509:p.Tyr153Phe					PTPDC1_ENST00000288976.3_Missense_Mutation_p.Y205F	p.Y153F	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN			6	798	+			153					Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	c.458A>T	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	17.16	3.317711	0.60524	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.21361	2.01;2.01	5.66	5.66	0.87406	Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.26085	0.0636	N	0.16743	0.435	0.54753	D	0.999982	P;P;P;P	0.41498	0.752;0.708;0.642;0.747	P;P;P;P	0.56563	0.615;0.48;0.672;0.801	T	0.08269	-1.0730	10	0.19590	T	0.45	-21.9296	15.0326	0.71720	1.0:0.0:0.0:0.0	.	207;205;207;153	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	F	153;205	ENSP00000364509:Y153F;ENSP00000288976:Y205F	ENSP00000288976:Y205F	Y	+	2	0	PTPDC1	95897423	1.000000	0.71417	1.000000	0.80357	0.265000	0.26407	6.875000	0.75551	2.284000	0.76573	0.528000	0.53228	TAC		0.353	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		4	155	0	0	0	1	0	4	155				
SOAT1	6646	broad.mit.edu	37	1	179319429	179319429	+	Splice_Site	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr1:179319429A>T	ENST00000367619.3	+	14	1457		c.e14-1		SOAT1_ENST00000535686.1_Splice_Site|SOAT1_ENST00000540564.1_Splice_Site|SOAT1_ENST00000539888.1_Splice_Site	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1						cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	CTTTTTCTTTAGTTTTTCTCC	0.333																																						ENST00000367619.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20						c.e14-1		sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)						122.0	112.0	115.0					1																	179319429		2203	4300	6503	SO:0001630	splice_region_variant	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179319429A>T	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"""acyl-Coenzyme A: cholesterol acyltransferase"""	102642	"""sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"""	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.1315-1A>T	1.37:g.179319429A>T						SOAT1_ENST00000539888.1_Splice_Site|SOAT1_ENST00000535686.1_Splice_Site|SOAT1_ENST00000540564.1_Splice_Site		NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN			14	1457	+								A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Splice_Site	SNP	ENST00000367619.3	37		CCDS1330.1	.	.	.	.	.	.	.	.	.	.	A	11.54	1.668872	0.29604	.	.	ENSG00000057252	ENST00000539888;ENST00000540564;ENST00000535686;ENST00000367619	.	.	.	5.51	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4654	0.44604	0.7419:0.2581:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SOAT1	177586052	1.000000	0.71417	0.901000	0.35422	0.560000	0.35617	5.599000	0.67592	2.217000	0.71921	0.482000	0.46254	.		0.333	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101	Intron	4	114	0	0	0	1	0	4	114				
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr19:53856702G>A	ENST00000595091.1	+	5	2993	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R925H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363													.|||	267	0.0533147	0.0484	0.0562	5008	,	,		21751	0.0466		0.0915	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - Missense(3)	p.R925H(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2773-2775)cGt>cAt		zinc finger protein 845							33.0	30.0	31.0					19																	53856702		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856702G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2774G>A	19.37:g.53856702G>A	ENSP00000470005:p.Arg925His					ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2891	+			925						Missense_Mutation	SNP	ENST00000595091.1	37	c.2774G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334080	0.11013	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	2.0	-4.0	0.04057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.58302	1.8	0.09310	N	1	D	0.55800	0.973	P	0.53760	0.734	T	0.43925	-0.9361	9	0.51188	T	0.08	.	10.7803	0.46374	0.0:0.6804:0.1821:0.1375	.	925	Q96IR2	ZN845_HUMAN	H	925;841	ENSP00000388311:R925H	ENSP00000412086:R841H	R	+	2	0	ZNF845	58548514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.662000	0.00032	-1.603000	0.01597	-0.499000	0.04595	CGT		0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	31	0	0	0	1	0	3	31				
PRKAA2	5563	broad.mit.edu	37	1	57140052	57140052	+	Splice_Site	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr1:57140052A>T	ENST00000371244.4	+	2	160		c.e2-1			NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit						autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	TCTTTTCTTTAGTTGGAGAAC	0.313																																						ENST00000371244.4																			0				breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						c.e2-1		protein kinase, AMP-activated, alpha 2 catalytic subunit							54.0	60.0	58.0					1																	57140052		2200	4289	6489	SO:0001630	splice_region_variant	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57140052A>T	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.95-1A>T	1.37:g.57140052A>T								NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN			2	160	+								Q9H1E8|Q9UD43	Splice_Site	SNP	ENST00000371244.4	37		CCDS605.1	.	.	.	.	.	.	.	.	.	.	A	18.25	3.582841	0.65992	.	.	ENSG00000162409	ENST00000371244	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8369	0.78805	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRKAA2	56912640	1.000000	0.71417	0.963000	0.40424	0.695000	0.40330	8.883000	0.92426	2.200000	0.70718	0.529000	0.55759	.		0.313	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252	Intron	7	108	0	0	0	1	0	7	108				
TTN	7273	broad.mit.edu	37	2	179429763	179429763	+	Silent	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr2:179429763A>T	ENST00000591111.1	-	276	76397	c.76173T>A	c.(76171-76173)atT>atA	p.I25391I	TTN_ENST00000460472.2_Silent_p.I17967I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.I18159I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.I18092I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Silent_p.I27032I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.I24464I|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25391	Fibronectin type-III 84. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTTATTTTAATTGTTGTTC	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.(81094-81096)atT>atA		titin							134.0	132.0	133.0					2																	179429763		1901	4117	6018	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179429763A>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.76173T>A	2.37:g.179429763A>T						TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Silent_p.I17967I|TTN_ENST00000591111.1_Silent_p.I25391I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.I18092I|TTN_ENST00000342992.6_Silent_p.I24464I|TTN_ENST00000342175.6_Silent_p.I18159I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.I27032I	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)		326	81320	-			25391			Fibronectin type-III 97.		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.81096T>A																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	147	0	0	0	1	0	4	147				
OR4D1	26689	broad.mit.edu	37	17	56232613	56232613	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr17:56232613A>T	ENST00000268912.5	+	1	120	c.99A>T	c.(97-99)ttA>ttT	p.L33F		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	33					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TGTTCCTGTTAGTCTATGTTA	0.458																																						ENST00000268912.5																			0				kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(97-99)ttA>ttT		olfactory receptor, family 4, subfamily D, member 1							145.0	144.0	145.0					17																	56232613		2027	4204	6231	SO:0001583	missense	26689				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56232613A>T	X89670	CCDS42365.1	17q22	2012-08-09			ENSG00000141194	ENSG00000141194		"""GPCR / Class A : Olfactory receptors"""	8293	protein-coding gene	gene with protein product				OR4D3		9119360	Standard	NM_012374		Approved	TPCR16	uc010wno.2	Q15615		ENST00000268912.5:c.99A>T	17.37:g.56232613A>T	ENSP00000365451:p.Leu33Phe						p.L33F	NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN			1	120	+			33					B2RN14|Q8NGB1|Q96R76	Missense_Mutation	SNP	ENST00000268912.5	37	c.99A>T	CCDS42365.1	.	.	.	.	.	.	.	.	.	.	a	1.916	-0.449506	0.04572	.	.	ENSG00000141194	ENST00000268912	T	0.13901	2.55	5.48	-1.36	0.09085	.	1.091030	0.07211	N	0.859171	T	0.10981	0.0268	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.40961	-0.9535	10	0.22706	T	0.39	1.0207	6.8548	0.24034	0.2381:0.0:0.4019:0.3601	.	33	Q15615	OR4D1_HUMAN	F	33	ENSP00000365451:L33F	ENSP00000365451:L33F	L	+	3	2	OR4D1	53587612	0.000000	0.05858	0.069000	0.20011	0.142000	0.21351	-0.156000	0.10100	-0.203000	0.10251	-0.444000	0.05651	TTA		0.458	OR4D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443364.1			8	464	0	0	0	1	0	8	464				
GPAM	57678	broad.mit.edu	37	10	113915654	113915654	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr10:113915654A>T	ENST00000348367.4	-	20	2476	c.2279T>A	c.(2278-2280)aTa>aAa	p.I760K	GPAM_ENST00000369425.1_3'UTR|GPAM_ENST00000423155.1_Missense_Mutation_p.I760K			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	760					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TGTTCTGGTTATTAGGTATTT	0.353																																					Ovarian(161;1017 2606 18293 52943)	ENST00000348367.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(2278-2280)aTa>aAa		glycerol-3-phosphate acyltransferase, mitochondrial							110.0	103.0	105.0					10																	113915654		2203	4300	6503	SO:0001583	missense	57678				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr10:113915654A>T	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.2279T>A	10.37:g.113915654A>T	ENSP00000265276:p.Ile760Lys					GPAM_ENST00000423155.1_Missense_Mutation_p.I760K|GPAM_ENST00000369425.1_3'UTR	p.I760K			Q9HCL2	GPAT1_HUMAN		Epithelial(162;0.0306)|all cancers(201;0.123)	20	2476	-			760					Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	37	c.2279T>A	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	A	8.837	0.941421	0.18281	.	.	ENSG00000119927	ENST00000348367;ENST00000423155	T;T	0.64438	-0.1;-0.1	5.08	5.08	0.68730	.	0.341865	0.30869	N	0.008713	T	0.43523	0.1251	N	0.19112	0.55	0.23735	N	0.996985	B	0.26258	0.145	B	0.28709	0.093	T	0.23297	-1.0192	10	0.02654	T	1	-1.4841	13.721	0.62728	1.0:0.0:0.0:0.0	.	760	Q9HCL2	GPAT1_HUMAN	K	760	ENSP00000265276:I760K;ENSP00000409242:I760K	ENSP00000265276:I760K	I	-	2	0	GPAM	113905644	0.922000	0.31269	0.006000	0.13384	0.509000	0.34042	8.329000	0.90017	2.028000	0.59812	0.533000	0.62120	ATA		0.353	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		4	102	0	0	0	1	0	4	102				
IGSF5	150084	broad.mit.edu	37	21	41142841	41142841	+	Splice_Site	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr21:41142841A>T	ENST00000380588.4	+	4	521		c.e4-1		IGSF5_ENST00000479378.1_Splice_Site	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5						single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TTTCTTCTTTAGTTATGGGAG	0.388																																						ENST00000380588.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23						c.e4-1		immunoglobulin superfamily, member 5							47.0	45.0	46.0					21																	41142841		2203	4300	6503	SO:0001630	splice_region_variant	150084					integral to membrane|tight junction		g.chr21:41142841A>T		CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5952	protein-coding gene	gene with protein product	"""junctional adhesion molecule 4"""	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.419-1A>T	21.37:g.41142841A>T						IGSF5_ENST00000479378.1_Splice_Site		NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN			4	521	+		Prostate(19;5.35e-06)							Splice_Site	SNP	ENST00000380588.4	37		CCDS33562.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.548062	0.65311	.	.	ENSG00000183067	ENST00000380588	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4568	0.61204	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IGSF5	40064711	0.998000	0.40836	0.918000	0.36340	0.882000	0.50991	5.040000	0.64191	2.251000	0.74343	0.528000	0.53228	.		0.388	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1		Intron	4	132	0	0	0	1	0	4	132				
RRBP1	6238	broad.mit.edu	37	20	17595443	17595443	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr20:17595443T>C	ENST00000377813.1	-	24	4436	c.4133A>G	c.(4132-4134)cAg>cGg	p.Q1378R	RRBP1_ENST00000455029.2_Missense_Mutation_p.Q719R|RRBP1_ENST00000360807.4_Missense_Mutation_p.Q945R|RRBP1_ENST00000246043.4_Missense_Mutation_p.Q1378R|RRBP1_ENST00000377807.2_Missense_Mutation_p.Q945R|RRBP1_ENST00000470422.1_5'UTR			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1378					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CAGCTGCTCCTGGGTCGTCTT	0.582																																						ENST00000377813.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						c.(4132-4134)cAg>cGg		ribosome binding protein 1							94.0	90.0	91.0					20																	17595443		2203	4300	6503	SO:0001583	missense	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17595443T>C	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.4133A>G	20.37:g.17595443T>C	ENSP00000367044:p.Gln1378Arg					RRBP1_ENST00000377807.2_Missense_Mutation_p.Q945R|RRBP1_ENST00000455029.2_Missense_Mutation_p.Q719R|RRBP1_ENST00000360807.4_Missense_Mutation_p.Q945R|RRBP1_ENST00000246043.4_Missense_Mutation_p.Q1378R|RRBP1_ENST00000468428.1_5'UTR	p.Q1378R			Q9P2E9	RRBP1_HUMAN			24	4436	-			1378					A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37	c.4133A>G		.	.	.	.	.	.	.	.	.	.	T	16.33	3.092836	0.56075	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.48	4.36	0.52297	.	0.000000	0.35525	N	0.003150	T	0.40196	0.1107	L	0.32530	0.975	0.41908	D	0.990458	D;D	0.71674	0.998;0.993	D;P	0.80764	0.994;0.796	T	0.10086	-1.0645	10	0.27082	T	0.32	-17.2277	10.5875	0.45290	0.0:0.0:0.1617:0.8383	.	945;1378	Q9P2E9-3;Q9P2E9	.;RRBP1_HUMAN	R	945;1378;945;1378;719	ENSP00000354045:Q945R;ENSP00000367044:Q1378R;ENSP00000367038:Q945R;ENSP00000246043:Q1378R;ENSP00000401206:Q719R	ENSP00000246043:Q1378R	Q	-	2	0	RRBP1	17543443	1.000000	0.71417	1.000000	0.80357	0.233000	0.25261	5.345000	0.65987	0.893000	0.36288	0.459000	0.35465	CAG		0.582	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		3	48	0	0	0	1	0	3	48				
TBC1D8B	54885	broad.mit.edu	37	X	106109045	106109045	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chrX:106109045A>T	ENST00000357242.5	+	16	2618	c.2444A>T	c.(2443-2445)tAt>tTt	p.Y815F	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.Y809F	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	815							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTATCTTGTTATTGGTGTTTG	0.343																																						ENST00000357242.5																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2443-2445)tAt>tTt		TBC1 domain family, member 8B (with GRAM domain)							128.0	118.0	121.0					X																	106109045		2203	4300	6503	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106109045A>T	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.2444A>T	X.37:g.106109045A>T	ENSP00000349781:p.Tyr815Phe					TBC1D8B_ENST00000276175.3_Missense_Mutation_p.Y809F	p.Y815F	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN			16	2618	+			815					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.2444A>T	CCDS14522.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.5|23.5	4.420514|4.420514	0.83559|0.83559	.|.	.|.	ENSG00000133138|ENSG00000133138	ENST00000431860|ENST00000357242;ENST00000276175;ENST00000394972	.|T;T	.|0.59364	.|0.27;0.27	5.59|5.59	5.59|5.59	0.84812|0.84812	.|EF-hand-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76076|0.76076	0.3937|0.3937	M|M	0.83483|0.83483	2.645|2.645	0.53005|0.53005	D|D	0.999963|0.999963	.|D	.|0.71674	.|0.998	.|D	.|0.77004	.|0.989	T|T	0.76528|0.76528	-0.2926|-0.2926	5|10	.|0.33141	.|T	.|0.24	-5.6795|-5.6795	13.501|13.501	0.61454|0.61454	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|815	.|Q0IIM8	.|TBC8B_HUMAN	F|F	77|815;809;77	.|ENSP00000349781:Y815F;ENSP00000276175:Y809F	.|ENSP00000276175:Y809F	L|Y	+|+	3|2	2|0	TBC1D8B|TBC1D8B	105995701|105995701	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.930000|0.930000	0.56654|0.56654	8.962000|8.962000	0.93254|0.93254	1.868000|1.868000	0.54150|0.54150	0.412000|0.412000	0.27726|0.27726	TTA|TAT		0.343	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		5	142	0	0	0	1	0	5	142				
TFIP11	24144	broad.mit.edu	37	22	26888109	26888109	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr22:26888109C>T	ENST00000407690.1	-	15	2667	c.2384G>A	c.(2383-2385)cGa>cAa	p.R795Q	TFIP11_ENST00000407431.1_Missense_Mutation_p.R795Q|TFIP11_ENST00000405938.1_Missense_Mutation_p.R795Q|TFIP11_ENST00000407148.1_Missense_Mutation_p.R795Q|SRRD_ENST00000215917.7_3'UTR	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	795					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CCCTTCGTGTCGCTTCCCAAT	0.557																																						ENST00000407690.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(2383-2385)cGa>cAa		tuftelin interacting protein 11							136.0	91.0	106.0					22																	26888109		2203	4300	6503	SO:0001583	missense	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26888109C>T	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.2384G>A	22.37:g.26888109C>T	ENSP00000384421:p.Arg795Gln					TFIP11_ENST00000407431.1_Missense_Mutation_p.R795Q|TFIP11_ENST00000407148.1_Missense_Mutation_p.R795Q|TFIP11_ENST00000405938.1_Missense_Mutation_p.R795Q	p.R795Q	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN			15	2667	-			795					O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	ENST00000407690.1	37	c.2384G>A	CCDS13838.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824053	0.90873	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000442693;ENST00000405938	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.39	5.39	0.77823	.	0.113939	0.64402	D	0.000012	T	0.58466	0.2124	M	0.72894	2.215	0.58432	D	0.999998	D;D	0.76494	0.994;0.999	P;P	0.57009	0.574;0.811	T	0.52578	-0.8557	10	0.27082	T	0.32	-31.7411	18.333	0.90277	0.0:1.0:0.0:0.0	.	795;154	Q9UBB9;Q9UBB9-2	TFP11_HUMAN;.	Q	795;795;795;480;795	ENSP00000384421:R795Q;ENSP00000383892:R795Q;ENSP00000385861:R795Q;ENSP00000384297:R795Q	ENSP00000384297:R795Q	R	-	2	0	TFIP11	25218109	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	5.601000	0.67606	2.804000	0.96469	0.655000	0.94253	CGA		0.557	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		4	80	0	0	0	1	0	4	80				
PRSS16	10279	broad.mit.edu	37	6	27215757	27215757	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr6:27215757T>C	ENST00000230582.3	+	2	182	c.167T>C	c.(166-168)cTc>cCc	p.L56P	PRSS16_ENST00000421826.2_Missense_Mutation_p.L56P	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	56					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCTGCAGCCCTCCCAAAAGTG	0.632																																					NSCLC(178;1118 2105 17078 23587 44429)	ENST00000230582.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(166-168)cTc>cCc		protease, serine, 16 (thymus)							47.0	47.0	47.0					6																	27215757		2203	4300	6503	SO:0001583	missense	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27215757T>C	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.167T>C	6.37:g.27215757T>C	ENSP00000230582:p.Leu56Pro					PRSS16_ENST00000421826.2_Missense_Mutation_p.L56P	p.L56P	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN			2	182	+			56					O75416	Missense_Mutation	SNP	ENST00000230582.3	37	c.167T>C	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	t	10.14	1.267250	0.23136	.	.	ENSG00000112812	ENST00000421826;ENST00000230582;ENST00000343467;ENST00000348953	T;T	0.46819	0.86;2.46	2.54	1.31	0.21738	.	1.300740	0.05216	N	0.507583	T	0.14141	0.0342	N	0.19112	0.55	0.09310	N	0.999996	P;B	0.44734	0.842;0.001	B;B	0.41571	0.36;0.001	T	0.07809	-1.0753	10	0.25751	T	0.34	0.0434	5.5709	0.17196	0.0:0.0:0.287:0.713	.	56;56	F2Z2N5;Q9NQE7	.;TSSP_HUMAN	P	56	ENSP00000404349:L56P;ENSP00000230582:L56P	ENSP00000230582:L56P	L	+	2	0	PRSS16	27323736	0.001000	0.12720	0.046000	0.18839	0.416000	0.31233	0.052000	0.14163	0.384000	0.24942	0.460000	0.39030	CTC		0.632	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			3	118	0	0	0	1	0	3	118				
CFAP53	220136	broad.mit.edu	37	18	47777146	47777146	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr18:47777146A>T	ENST00000398545.4	-	5	1095	c.978T>A	c.(976-978)gaT>gaA	p.D326E		NM_145020.3	NP_659457.2														endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		GTTTCTTTTTATCTGCCTCTT	0.423																																						ENST00000398545.4																			0				endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20						c.(976-978)gaT>gaA		coiled-coil domain containing 11							241.0	215.0	223.0					18																	47777146		1854	4095	5949	SO:0001583	missense	220136							g.chr18:47777146A>T																												ENST00000398545.4:c.978T>A	18.37:g.47777146A>T	ENSP00000381553:p.Asp326Glu						p.D326E	NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN		STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)	5	1095	-			326						Missense_Mutation	SNP	ENST00000398545.4	37	c.978T>A	CCDS11940.2	.	.	.	.	.	.	.	.	.	.	A	11.43	1.637057	0.29157	.	.	ENSG00000172361	ENST00000398545	T	0.07216	3.21	5.96	-2.61	0.06171	.	0.445863	0.24823	N	0.035311	T	0.03477	0.0100	L	0.31664	0.95	0.29478	N	0.856576	B	0.12013	0.005	B	0.16722	0.016	T	0.44345	-0.9334	10	0.02654	T	1	-7.8359	3.1294	0.06418	0.2438:0.468:0.1605:0.1277	.	326	Q96M91	CCD11_HUMAN	E	326	ENSP00000381553:D326E	ENSP00000381553:D326E	D	-	3	2	CCDC11	46031144	0.973000	0.33851	0.928000	0.36995	0.945000	0.59286	0.003000	0.13083	-0.079000	0.12707	0.533000	0.62120	GAT		0.423	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255922.3			9	568	0	0	0	1	0	9	568				
SENP2	59343	broad.mit.edu	37	3	185324122	185324122	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr3:185324122A>T	ENST00000296257.5	+	6	694	c.454A>T	c.(454-456)Act>Tct	p.T152S	SENP2_ENST00000465201.1_3'UTR|SENP2_ENST00000545472.1_Missense_Mutation_p.T142S|SENP2_ENST00000427465.2_5'UTR	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	152					cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GCTCAGTTTTACTTTGAACTC	0.413																																						ENST00000296257.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12						c.(454-456)Act>Tct		SUMO1/sentrin/SMT3 specific peptidase 2							66.0	70.0	69.0					3																	185324122		2203	4300	6503	SO:0001583	missense	59343				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity	g.chr3:185324122A>T	AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"""SUMO1/sentrin/SMT3 specific protease 2"""			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.454A>T	3.37:g.185324122A>T	ENSP00000296257:p.Thr152Ser					SENP2_ENST00000465201.1_3'UTR|SENP2_ENST00000545472.1_Missense_Mutation_p.T142S|SENP2_ENST00000427465.2_5'UTR	p.T152S	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		6	694	+	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		152					B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Missense_Mutation	SNP	ENST00000296257.5	37	c.454A>T	CCDS33902.1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.870004	0.33069	.	.	ENSG00000163904	ENST00000430355;ENST00000545472;ENST00000296257	T;T	0.23754	1.89;1.9	5.49	-0.304	0.12788	.	0.530450	0.17698	N	0.165030	T	0.08802	0.0218	N	0.14661	0.345	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.27502	-1.0072	10	0.07482	T	0.82	-3.9612	0.7995	0.01072	0.4495:0.2157:0.1866:0.1482	.	142;152	B4DQ42;Q9HC62	.;SENP2_HUMAN	S	206;142;152	ENSP00000439653:T142S;ENSP00000296257:T152S	ENSP00000296257:T152S	T	+	1	0	SENP2	186806816	0.981000	0.34729	0.988000	0.46212	0.689000	0.40095	0.055000	0.14229	0.120000	0.18254	0.472000	0.43445	ACT		0.413	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627		4	87	0	0	0	1	0	4	87				
RANBP2	5903	broad.mit.edu	37	2	109378555	109378555	+	Splice_Site	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr2:109378555A>T	ENST00000283195.6	+	19	2728		c.e19-1			NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2						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						TTGTTTTTTTAGTTGCAACTA	0.333																																						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.e19-1		RAN binding protein 2							91.0	100.0	97.0					2																	109378555		931	2027	2958	SO:0001630	splice_region_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.chr2:109378555A>T	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.2603-1A>T	2.37:g.109378555A>T								NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			19	2728	+								Q13074|Q15280|Q53TE2|Q59FH7	Splice_Site	SNP	ENST00000283195.6	37		CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.294558	0.81025	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3858	0.74699	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RANBP2	108744987	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.847000	0.75404	2.088000	0.63022	0.455000	0.32223	.		0.333	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	Intron	4	82	0	0	0	1	0	4	82				
PSMD1	5707	broad.mit.edu	37	2	232035330	232035330	+	Silent	SNP	G	G	A			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr2:232035330G>A	ENST00000308696.6	+	24	2928	c.2766G>A	c.(2764-2766)gaG>gaA	p.E922E	PSMD1_ENST00000373635.4_Silent_p.E891E|PSMD1_ENST00000409643.1_Silent_p.E891E	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	922					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)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|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 polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	AAGACATTGAGGAGCTGGTGG	0.493																																						ENST00000308696.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31						c.(2764-2766)gaG>gaA		proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	Bortezomib(DB00188)						97.0	94.0	95.0					2																	232035330		2203	4300	6503	SO:0001819	synonymous_variant	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:232035330G>A	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.2766G>A	2.37:g.232035330G>A						PSMD1_ENST00000409643.1_Silent_p.E891E|PSMD1_ENST00000373635.4_Silent_p.E891E	p.E922E	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	24	2928	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	922					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Silent	SNP	ENST00000308696.6	37	c.2766G>A	CCDS2482.1																																																																																				0.493	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			3	104	0	0	0	1	0	3	104				
BOD1L1	259282	broad.mit.edu	37	4	13603058	13603058	+	Silent	SNP	C	C	T	rs549726105	byFrequency	TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr4:13603058C>T	ENST00000040738.5	-	10	5601	c.5466G>A	c.(5464-5466)tcG>tcA	p.S1822S		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1822						nucleus (GO:0005634)	DNA binding (GO:0003677)										CATTTTCTTCCGATTCAGAAC	0.488													C|||	2	0.000399361	0.0	0.0	5008	,	,		23209	0.001		0.0	False		,,,				2504	0.001					ENST00000040738.5																			0											c.(5464-5466)tcG>tcA		biorientation of chromosomes in cell division 1-like 1							113.0	119.0	117.0					4																	13603058		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13603058C>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.5466G>A	4.37:g.13603058C>T							p.S1822S	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	5601	-			1822					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.5466G>A	CCDS3411.2																																																																																				0.488	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		4	201	0	0	0	1	0	4	201				
KIF21A	55605	broad.mit.edu	37	12	39757017	39757017	+	Splice_Site	SNP	T	T	A			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr12:39757017T>A	ENST00000361418.5	-	7	919		c.e7-2		KIF21A_ENST00000395670.3_Splice_Site|KIF21A_ENST00000544797.2_Splice_Site|KIF21A_ENST00000361961.3_Splice_Site|KIF21A_ENST00000541463.2_Splice_Site			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A						ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AAGTGCCAACTAAAAGAAAGA	0.333																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.e7-2		kinesin family member 21A							95.0	93.0	94.0					12																	39757017		2203	4300	6503	SO:0001630	splice_region_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39757017T>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.904-2A>T	12.37:g.39757017T>A						KIF21A_ENST00000544797.2_Splice_Site|KIF21A_ENST00000541463.2_Splice_Site|KIF21A_ENST00000361418.5_Splice_Site|KIF21A_ENST00000361961.3_Splice_Site				Q7Z4S6	KI21A_HUMAN			7	1323	-		Lung NSC(34;0.179)|all_lung(34;0.213)						A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Splice_Site	SNP	ENST00000361418.5	37		CCDS53776.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.306185	0.60305	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463;ENST00000552908	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7019	0.69162	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF21A	38043284	1.000000	0.71417	0.991000	0.47740	0.633000	0.38033	3.341000	0.52151	1.880000	0.54463	0.460000	0.39030	.		0.333	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641	Intron	5	147	0	0	0	1	0	5	147				
MKI67	4288	broad.mit.edu	37	10	129907060	129907060	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr10:129907060A>T	ENST00000368654.3	-	13	3419	c.3044T>A	c.(3043-3045)aTa>aAa	p.I1015K	MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Missense_Mutation_p.I655K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1015	16 X 122 AA approximate repeats.				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)				TGGGGTGTTTATTGGTTCTGG	0.483																																						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.(3043-3045)aTa>aAa		marker of proliferation Ki-67							522.0	511.0	515.0					10																	129907060		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129907060A>T	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.3044T>A	10.37:g.129907060A>T	ENSP00000357643:p.Ile1015Lys					MKI67_ENST00000368653.3_Missense_Mutation_p.I655K	p.I1015K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	3419	-		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)	1015			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.3044T>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	A	8.294	0.818428	0.16607	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02085	4.46;4.46	3.77	-7.54	0.01332	.	.	.	.	.	T	0.00936	0.0031	N	0.03608	-0.345	0.09310	N	1	B;P;B	0.35348	0.012;0.496;0.273	B;B;B	0.38712	0.004;0.28;0.093	T	0.40251	-0.9573	9	0.05959	T	0.93	.	6.5263	0.22303	0.279:0.0:0.4871:0.2339	.	1014;655;1015	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	K	1015;655;1014	ENSP00000357643:I1015K;ENSP00000357642:I655K	ENSP00000357642:I655K	I	-	2	0	MKI67	129797050	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.298000	0.02756	-1.626000	0.01552	-0.411000	0.06167	ATA		0.483	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		8	535	0	0	0	1	0	8	535				
ARHGEF12	23365	broad.mit.edu	37	11	120331379	120331379	+	Splice_Site	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr11:120331379A>T	ENST00000397843.2	+	27	2693		c.e27-1		ARHGEF12_ENST00000356641.3_Splice_Site|AP000758.1_ENST00000595283.1_5'Flank|ARHGEF12_ENST00000532993.1_Splice_Site	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12						apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TTTTATCTTTAGTTGGATTGA	0.323			T	MLL	AML																																	ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.e27-1		Rho guanine nucleotide exchange factor (GEF) 12							119.0	117.0	118.0					11																	120331379		1808	4069	5877	SO:0001630	splice_region_variant	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120331379A>T	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.2528-1A>T	11.37:g.120331379A>T						ARHGEF12_ENST00000532993.1_Splice_Site|ARHGEF12_ENST00000356641.3_Splice_Site		NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	27	2693	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)						O15086|Q6P526	Splice_Site	SNP	ENST00000397843.2	37		CCDS41727.1	.	.	.	.	.	.	.	.	.	.	A	19.55	3.848484	0.71603	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1623	0.81730	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGEF12	119836589	1.000000	0.71417	0.996000	0.52242	0.719000	0.41307	8.687000	0.91255	2.226000	0.72624	0.454000	0.30748	.		0.323	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313	Intron	6	174	0	0	0	1	0	6	174				
ANO10	55129	broad.mit.edu	37	3	43642047	43642047	+	Silent	SNP	A	A	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr3:43642047A>G	ENST00000292246.3	-	3	336	c.166T>C	c.(166-168)Tta>Cta	p.L56L	ANO10_ENST00000396091.3_Intron|ANO10_ENST00000350459.4_Silent_p.L56L|ANO10_ENST00000451430.2_Intron|ANO10_ENST00000414522.2_Silent_p.L56L	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	56					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						TATTTATTTAACAATGGTCTA	0.318																																						ENST00000292246.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						c.(166-168)Tta>Cta		anoctamin 10							84.0	83.0	83.0					3																	43642047		2203	4297	6500	SO:0001819	synonymous_variant	55129				cell death	chloride channel complex	chloride channel activity	g.chr3:43642047A>G	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.166T>C	3.37:g.43642047A>G						ANO10_ENST00000350459.4_Silent_p.L56L|ANO10_ENST00000396091.3_Intron|ANO10_ENST00000451430.2_Intron|ANO10_ENST00000414522.2_Silent_p.L56L	p.L56L	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN			3	336	-			56					A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Silent	SNP	ENST00000292246.3	37	c.166T>C	CCDS2710.2																																																																																				0.318	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2	NM_018075		4	149	0	0	0	1	0	4	149				
PDK3	5165	broad.mit.edu	37	X	24516944	24516944	+	Splice_Site	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chrX:24516944A>T	ENST00000379162.4	+	3	483		c.e3-1		PDK3_ENST00000441463.2_Splice_Site|PDK3_ENST00000493226.1_Splice_Site	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3						cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTTTCCTTTTAGGTATATGCA	0.383																																						ENST00000441463.2																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.e3-1		pyruvate dehydrogenase kinase, isozyme 3							27.0	30.0	29.0					X																	24516944		2195	4283	6478	SO:0001630	splice_region_variant	5165				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chrX:24516944A>T	L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"""pyruvate dehydrogenase kinase, isoenzyme 3"""			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.249-1A>T	X.37:g.24516944A>T						PDK3_ENST00000379162.4_Splice_Site|PDK3_ENST00000493226.1_Splice_Site		NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN			3	248	+								B4DXG6	Splice_Site	SNP	ENST00000379162.4	37		CCDS14212.1	.	.	.	.	.	.	.	.	.	.	A	13.44	2.239099	0.39598	.	.	ENSG00000067992	ENST00000379162;ENST00000441463	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3848	0.66938	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDK3	24426865	1.000000	0.71417	0.887000	0.34795	0.557000	0.35523	9.285000	0.95894	1.770000	0.52166	0.486000	0.48141	.		0.383	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056097.1	NM_005391	Intron	3	16	0	0	0	1	0	3	16				
TRPM6	140803	broad.mit.edu	37	9	77376913	77376913	+	Splice_Site	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr9:77376913A>T	ENST00000360774.1	-	26	4910		c.e26+1		TRPM6_ENST00000449912.2_Splice_Site|TRPM6_ENST00000451710.3_Splice_Site|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Splice_Site|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Splice_Site	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6						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						TTTATTCCTTACTTTTAATCT	0.343																																						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.e26+1		transient receptor potential cation channel, subfamily M, member 6							59.0	61.0	60.0					9																	77376913		2192	4294	6486	SO:0001630	splice_region_variant	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77376913A>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4672+1T>A	9.37:g.77376913A>T						TRPM6_ENST00000360774.1_Splice_Site|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Splice_Site|TRPM6_ENST00000449912.2_Splice_Site|TRPM6_ENST00000376864.4_Splice_Site|TRPM6_ENST00000376872.3_Intron				Q9BX84	TRPM6_HUMAN			26	4910	-								Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Splice_Site	SNP	ENST00000360774.1	37		CCDS6647.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.12|13.12	2.141110|2.141110	0.37825|0.37825	.|.	.|.	ENSG00000119121|ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864|ENST00000312449;ENST00000448641	.|.	.|.	.|.	5.48|5.48	3.09|3.09	0.35607|0.35607	.|.	.|.	.|.	.|.	.|.	.|T	.|0.60431	.|0.2268	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.61078	.|-0.7135	.|5	.|0.87932	.|D	.|0	.|.	5.0763|5.0763	0.14632|0.14632	0.6603:0.1818:0.1579:0.0|0.6603:0.1818:0.1579:0.0	.|.	.|.	.|.	.|.	.|R	-1|1131	.|.	.|ENSP00000309693:S1131R	.|S	-|-	.|3	.|2	TRPM6|TRPM6	76566733|76566733	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.545000|0.545000	0.35147|0.35147	1.425000|1.425000	0.34859|0.34859	0.891000|0.891000	0.36235|0.36235	0.533000|0.533000	0.62120|0.62120	.|AGT		0.343	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662	Intron	4	63	0	0	0	1	0	4	63				
CFAP57	149465	broad.mit.edu	37	1	43650987	43650987	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr1:43650987T>A	ENST00000372492.4	+	5	1253	c.929T>A	c.(928-930)aTg>aAg	p.M310K	WDR65_ENST00000528956.1_Missense_Mutation_p.M310K	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		310										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTTGAGAAGATGGAAGAAAAG	0.478																																						ENST00000372492.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(928-930)aTg>aAg		WD repeat domain 65							85.0	82.0	83.0					1																	43650987		2203	4300	6503	SO:0001583	missense	149465							g.chr1:43650987T>A																												ENST00000372492.4:c.929T>A	1.37:g.43650987T>A	ENSP00000361570:p.Met310Lys					WDR65_ENST00000528956.1_Missense_Mutation_p.M310K	p.M310K	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN			5	1253	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	310					A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	ENST00000372492.4	37	c.929T>A		.	.	.	.	.	.	.	.	.	.	T	10.48	1.363283	0.24684	.	.	ENSG00000243710	ENST00000372492;ENST00000528956	T;T	0.06068	3.35;3.35	5.53	3.2	0.36748	Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);	0.754623	0.13941	N	0.352205	T	0.04861	0.0131	L	0.36672	1.1	0.09310	N	1	B;B	0.15719	0.0;0.014	B;B	0.14023	0.0;0.01	T	0.46541	-0.9184	10	0.06099	T	0.92	.	8.0657	0.30659	0.0:0.2868:0.0:0.7132	.	310;310	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	K	310	ENSP00000361570:M310K;ENSP00000435310:M310K	ENSP00000361570:M310K	M	+	2	0	WDR65	43423574	0.142000	0.22610	0.784000	0.31847	0.955000	0.61496	0.964000	0.29306	0.475000	0.27415	0.482000	0.46254	ATG		0.478	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1			5	142	0	0	0	1	0	5	142				
CCDC18	343099	broad.mit.edu	37	1	93649533	93649533	+	Splice_Site	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr1:93649533A>T	ENST00000343253.7	+	3	636		c.e3-1		CCDC18_ENST00000334652.5_Splice_Site|CCDC18_ENST00000401026.3_Splice_Site|CCDC18_ENST00000557479.1_Splice_Site|CCDC18_ENST00000338949.4_Splice_Site			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18											breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TTTTTTCTCTAGTGTTAGTCC	0.328																																						ENST00000343253.7																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.e3-1		coiled-coil domain containing 18							115.0	105.0	108.0					1																	93649533		1810	4073	5883	SO:0001630	splice_region_variant	343099							g.chr1:93649533A>T			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.135-1A>T	1.37:g.93649533A>T						CCDC18_ENST00000334652.5_Splice_Site|CCDC18_ENST00000401026.3_Splice_Site|CCDC18_ENST00000338949.4_Splice_Site|CCDC18_ENST00000557479.1_Splice_Site				Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	3	636	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)						Q6ZU17	Splice_Site	SNP	ENST00000343253.7	37			.	.	.	.	.	.	.	.	.	.	A	19.31	3.803472	0.70682	.	.	ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000448243;ENST00000370276	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9043	0.63823	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC18	93422121	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.947000	0.49058	2.306000	0.77630	0.482000	0.46254	.		0.328	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886	Intron	7	153	0	0	0	1	0	7	153				
GSTCD	79807	broad.mit.edu	37	4	106640215	106640215	+	Splice_Site	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr4:106640215A>T	ENST00000515279.1	+	3	646		c.e3-1		GSTCD_ENST00000360505.5_Splice_Site|GSTCD_ENST00000394730.3_Splice_Site|GSTCD_ENST00000507281.1_Splice_Site|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394728.3_Splice_Site			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing							extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TTTGTTTTGTAGGTTAGTCAG	0.338																																						ENST00000515279.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14						c.e3-1		glutathione S-transferase, C-terminal domain containing							54.0	62.0	59.0					4																	106640215		2192	4295	6487	SO:0001630	splice_region_variant	79807					cytoplasm	rRNA methyltransferase activity	g.chr4:106640215A>T	BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"""Glutathione S-transferase, C-terminal domain containing"""			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.427-1A>T	4.37:g.106640215A>T						GSTCD_ENST00000507281.1_Splice_Site|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394730.3_Splice_Site|GSTCD_ENST00000394728.3_Splice_Site|GSTCD_ENST00000360505.5_Splice_Site				Q8NEC7	GSTCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)	3	646	+		Hepatocellular(203;0.217)						A8K8J0|A8MVD3|H9KV97|Q9H8S3	Splice_Site	SNP	ENST00000515279.1	37		CCDS43257.1	.	.	.	.	.	.	.	.	.	.	A	17.41	3.383790	0.61845	.	.	ENSG00000138780	ENST00000394730;ENST00000507281;ENST00000515279;ENST00000360505;ENST00000510865;ENST00000509336;ENST00000394728	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0247	0.71659	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GSTCD	106859664	1.000000	0.71417	0.983000	0.44433	0.779000	0.44077	8.400000	0.90200	2.133000	0.65898	0.482000	0.46254	.		0.338	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363981.1	NM_024751	Intron	6	114	0	0	0	1	0	6	114				
FLG	2312	broad.mit.edu	37	1	152281389	152281389	+	Silent	SNP	C	C	T	rs138652718	byFrequency	TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr1:152281389C>T	ENST00000368799.1	-	3	6008	c.5973G>A	c.(5971-5973)gcG>gcA	p.A1991A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1991	Ser-rich.				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)			CATGGGATGACGCAGCCTGTC	0.572									Ichthyosis				-|||	9	0.00179712	0.0053	0.0029	5008	,	,		29400	0.0		0.0	False		,,,				2504	0.0					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.(5971-5973)gcG>gcA		filaggrin		C		29,4377	33.5+/-64.1	0,29,2174	584.0	465.0	505.0		5973	-7.1	0.0	1	dbSNP_134	505	0,8600		0,0,4300	no	coding-synonymous	FLG	NM_002016.1		0,29,6474	TT,TC,CC		0.0,0.6582,0.223		1991/4062	152281389	29,12977	2203	4300	6503	SO:0001819	synonymous_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.chr1:152281389C>T	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.5973G>A	1.37:g.152281389C>T						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.A1991A	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6008	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1991			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.5973G>A	CCDS30860.1																																																																																				0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		5	638	0	0	0	1	0	5	638				
RUSC2	9853	broad.mit.edu	37	9	35547238	35547238	+	Silent	SNP	T	T	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr9:35547238T>C	ENST00000455600.1	+	2	1289	c.720T>C	c.(718-720)ccT>ccC	p.P240P		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	240						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CAAGGAACCCTGGATGCTCCG	0.597																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(718-720)ccT>ccC		RUN and SH3 domain containing 2							73.0	71.0	72.0					9																	35547238		2203	4300	6503	SO:0001819	synonymous_variant	9853					cytosol		g.chr9:35547238T>C	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.720T>C	9.37:g.35547238T>C							p.P240P	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		2	1289	+			240					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Silent	SNP	ENST00000455600.1	37	c.720T>C	CCDS35008.1																																																																																				0.597	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		3	104	0	0	0	1	0	3	104				
MAP4	4134	broad.mit.edu	37	3	47958144	47958144	+	Silent	SNP	A	A	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr3:47958144A>G	ENST00000360240.6	-	7	1691	c.1173T>C	c.(1171-1173)gcT>gcC	p.A391A	MAP4_ENST00000395734.3_Silent_p.A391A|MAP4_ENST00000426837.2_Silent_p.A408A|MAP4_ENST00000383737.4_Intron	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	391	17 X 14 AA tandem repeats.				cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.A391A(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	CCTTGGAAGGAGCCAAGTCCA	0.443																																						ENST00000426837.2																			2	Substitution - coding silent(2)	p.A391A(2)	lung(2)	breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32						c.(1222-1224)gcT>gcC		microtubule-associated protein 4							148.0	145.0	146.0					3																	47958144		2203	4300	6503	SO:0001819	synonymous_variant	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47958144A>G		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1173T>C	3.37:g.47958144A>G						MAP4_ENST00000360240.6_Silent_p.A391A|MAP4_ENST00000395734.3_Silent_p.A391A|MAP4_ENST00000383737.4_Intron	p.A408A			P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	8	1311	-			391			17 X 14 AA tandem repeats.		Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Silent	SNP	ENST00000360240.6	37	c.1224T>C	CCDS33750.1																																																																																				0.443	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		4	277	0	0	0	1	0	4	277				
RALGPS2	55103	broad.mit.edu	37	1	178802557	178802557	+	Splice_Site	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr1:178802557A>T	ENST00000367635.3	+	8	818		c.e8-1		RALGPS2_ENST00000367634.2_Splice_Site	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2						small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TTTGTTTTTTAGTTATTAAGT	0.259																																						ENST00000367635.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.e8-1		Ral GEF with PH domain and SH3 binding motif 2							37.0	39.0	38.0					1																	178802557		2200	4282	6482	SO:0001630	splice_region_variant	55103				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:178802557A>T	AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.481-1A>T	1.37:g.178802557A>T						RALGPS2_ENST00000324778.4_Splice_Site|RALGPS2_ENST00000367634.2_Splice_Site		NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN			8	818	+								B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Splice_Site	SNP	ENST00000367635.3	37		CCDS1325.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.120441	0.77323	.	.	ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778	.	.	.	5.98	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6582	0.51330	0.8547:0.0:0.0:0.1453	.	.	.	.	.	-1	.	.	.	+	.	.	RALGPS2	177069180	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.829000	0.92055	1.061000	0.40601	0.528000	0.53228	.		0.259	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663	Intron	4	42	0	0	0	1	0	4	42				
NFATC2	4773	broad.mit.edu	37	20	50007990	50007990	+	Splice_Site	SNP	T	T	A			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr20:50007990T>A	ENST00000396009.3	-	10	2942		c.e10-2		NFATC2_ENST00000371564.3_Splice_Site|NFATC2_ENST00000610033.1_Splice_Site|NFATC2_ENST00000609507.1_Splice_Site|NFATC2_ENST00000414705.1_Splice_Site|NFATC2_ENST00000609943.1_Splice_Site	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2						B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TTTCATTAACTACAAAAGAAA	0.458																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.e11-2		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							62.0	70.0	67.0					20																	50007990		2203	4300	6503	SO:0001630	splice_region_variant	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50007990T>A	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.2723-2A>T	20.37:g.50007990T>A						NFATC2_ENST00000414705.1_Splice_Site|NFATC2_ENST00000396009.3_Splice_Site		NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			11	3030	-	Hepatocellular(150;0.248)							B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Splice_Site	SNP	ENST00000396009.3	37		CCDS13437.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.940739	0.73557	.	.	ENSG00000101096	ENST00000396009	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8135	0.78581	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NFATC2	49441397	1.000000	0.71417	0.995000	0.50966	0.911000	0.54048	5.829000	0.69316	2.118000	0.64928	0.533000	0.62120	.		0.458	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340	Intron	5	182	0	0	0	1	0	5	182				
CKAP2L	150468	broad.mit.edu	37	2	113500345	113500345	+	Splice_Site	SNP	G	G	A			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr2:113500345G>A	ENST00000302450.6	-	7	1838	c.1760C>T	c.(1759-1761)cCa>cTa	p.P587L	CKAP2L_ENST00000541405.1_Splice_Site_p.P422L|NT5DC4_ENST00000327581.4_3'UTR	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	587						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CTCTTGTATTGGCTGGAAGGA	0.294																																						ENST00000541405.1																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.e7-1		cytoskeleton associated protein 2-like							71.0	75.0	74.0					2																	113500345		2203	4300	6503	SO:0001630	splice_region_variant	150468					centrosome		g.chr2:113500345G>A	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.1759-1C>T	2.37:g.113500345G>A						NT5DC4_ENST00000327581.4_3'UTR|CKAP2L_ENST00000302450.6_Splice_Site_p.P587_splice	p.P422_splice			Q8IYA6	CKP2L_HUMAN			7	1788	-			587					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Splice_Site	SNP	ENST00000302450.6	37	c.1263_splice	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388032	0.82902	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.67698	-0.28;-0.28	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.83492	0.5266	M	0.85462	2.755	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.85473	0.1174	10	0.72032	D	0.01	-8.3923	15.5857	0.76479	0.0:0.0:1.0:0.0	.	176;587	Q8IYA6-2;Q8IYA6	.;CKP2L_HUMAN	L	422;587	ENSP00000438763:P422L;ENSP00000305204:P587L	ENSP00000305204:P587L	P	-	2	0	CKAP2L	113216816	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.189000	0.65098	2.734000	0.93682	0.655000	0.94253	CCA		0.294	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515	Missense_Mutation	3	32	0	0	0	1	0	3	32				
CNNM2	54805	broad.mit.edu	37	10	104836767	104836767	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr10:104836767C>T	ENST00000369878.4	+	8	2646	c.2458C>T	c.(2458-2460)Cgg>Tgg	p.R820W	CNNM2_ENST00000475511.1_3'UTR|CNNM2_ENST00000433628.2_Missense_Mutation_p.R798W	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	820					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GATGGCATCCCGGATGGACAA	0.463																																						ENST00000369878.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(2458-2460)Cgg>Tgg		cyclin M2							109.0	108.0	108.0					10																	104836767		1916	4128	6044	SO:0001583	missense	54805				ion transport	integral to membrane		g.chr10:104836767C>T	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.2458C>T	10.37:g.104836767C>T	ENSP00000358894:p.Arg820Trp					CNNM2_ENST00000457502.2_Missense_Mutation_p.R578W|CNNM2_ENST00000433628.2_Missense_Mutation_p.R798W|CNNM2_ENST00000475511.1_3'UTR	p.R820W	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	8	2582	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	820					Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	37	c.2458C>T	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	C	32	5.171967	0.94807	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369878;ENST00000345419	T	0.32272	1.46	5.69	5.69	0.88448	.	0.057874	0.64402	D	0.000001	T	0.59932	0.2230	M	0.82517	2.595	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.63488	0.886;0.915	T	0.64219	-0.6459	10	0.72032	D	0.01	.	19.7954	0.96478	0.0:1.0:0.0:0.0	.	798;820	Q9H8M5-2;Q9H8M5	.;CNNM2_HUMAN	W	821;799;820;798	ENSP00000358894:R820W	ENSP00000286899:R798W	R	+	1	2	CNNM2	104826757	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.738000	0.68613	2.677000	0.91161	0.555000	0.69702	CGG		0.463	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		6	96	0	0	0	1	0	6	96				
BMP10	27302	broad.mit.edu	37	2	69093688	69093688	+	Missense_Mutation	SNP	G	G	A	rs141935259		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr2:69093688G>A	ENST00000295379.1	-	2	508	c.350C>T	c.(349-351)cCg>cTg	p.P117L		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	117					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)	p.P117L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						AAAACTGACCGGCTGGGAAAA	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		20428	0.001		0.0	False		,,,				2504	0.0					ENST00000295379.1																			1	Substitution - Missense(1)	p.P117L(1)	endometrium(1)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						c.(349-351)cCg>cTg		bone morphogenetic protein 10		G	LEU/PRO	1,4401		0,1,2200	28.0	30.0	29.0		350	5.9	1.0	2	dbSNP_134	29	0,8592		0,0,4296	yes	missense	BMP10	NM_014482.1	98	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	benign	117/425	69093688	1,12993	2201	4296	6497	SO:0001583	missense	27302				activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding	g.chr2:69093688G>A	AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.350C>T	2.37:g.69093688G>A	ENSP00000295379:p.Pro117Leu						p.P117L	NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN			2	508	-			117					Q53R17|Q6NTE0	Missense_Mutation	SNP	ENST00000295379.1	37	c.350C>T	CCDS1890.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.49	1.653907	0.29425	2.27E-4	0.0	ENSG00000163217	ENST00000295379	T	0.73363	-0.74	5.94	5.94	0.96194	Transforming growth factor-beta, N-terminal (1);	0.254934	0.42682	D	0.000674	T	0.69142	0.3078	L	0.50333	1.59	0.48452	D	0.999655	B	0.28026	0.198	B	0.28784	0.094	T	0.64732	-0.6338	10	0.07990	T	0.79	.	19.3434	0.94355	0.0:0.0:1.0:0.0	.	117	O95393	BMP10_HUMAN	L	117	ENSP00000295379:P117L	ENSP00000295379:P117L	P	-	2	0	BMP10	68947192	0.993000	0.37304	0.994000	0.49952	0.632000	0.37999	2.843000	0.48238	2.812000	0.96745	0.557000	0.71058	CCG		0.428	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251768.1	NM_014482		21	26	0	0	0	1	0	21	26				
TAF7L	54457	broad.mit.edu	37	X	100536765	100536765	+	Splice_Site	SNP	T	T	A			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chrX:100536765T>A	ENST00000372907.3	-	6	676		c.e6-2		TAF7L_ENST00000372905.2_Splice_Site|TAF7L_ENST00000324762.6_Splice_Site|TAF7L_ENST00000356784.1_Splice_Site	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GTGGCGTAACTAAAATAAATA	0.373																																					Ovarian(104;431 1530 3210 15406 18594)	ENST00000372907.3																			0				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.e6-2		TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa							148.0	128.0	135.0					X																	100536765		2203	4300	6503	SO:0001630	splice_region_variant	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100536765T>A	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.665-2A>T	X.37:g.100536765T>A						TAF7L_ENST00000324762.6_Splice_Site|TAF7L_ENST00000356784.1_Splice_Site|TAF7L_ENST00000372905.2_Splice_Site		NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN			6	676	-								Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Splice_Site	SNP	ENST00000372907.3	37		CCDS35347.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.392592	0.83011	.	.	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6831	0.77388	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TAF7L	100423421	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.176000	0.71955	2.088000	0.63022	0.486000	0.48141	.		0.373	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2		Intron	4	65	0	0	0	1	0	4	65				
COG3	83548	broad.mit.edu	37	13	46054373	46054373	+	Missense_Mutation	SNP	C	C	A	rs376780940		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr13:46054373C>A	ENST00000349995.5	+	4	609	c.497C>A	c.(496-498)tCc>tAc	p.S166Y		NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	166					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		CTTTTTGTGTCCAATAAGACA	0.378																																					Ovarian(150;1048 1859 18083 21577 42700)	ENST00000349995.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24						c.(496-498)tCc>tAc		component of oligomeric golgi complex 3		C	TYR/SER	0,4406		0,0,2203	120.0	119.0	119.0		497	6.0	1.0	13		119	2,8598	2.2+/-6.3	0,2,4298	no	missense	COG3	NM_031431.3	144	0,2,6501	AA,AC,CC		0.0233,0.0,0.0154	probably-damaging	166/829	46054373	2,13004	2203	4300	6503	SO:0001583	missense	83548				ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity	g.chr13:46054373C>A	AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"""Components of oligomeric golgi complex"""	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.497C>A	13.37:g.46054373C>A	ENSP00000258654:p.Ser166Tyr						p.S166Y	NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)	4	609	+		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	166					B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Missense_Mutation	SNP	ENST00000349995.5	37	c.497C>A	CCDS9398.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798620	0.90538	0.0	2.33E-4	ENSG00000136152	ENST00000349995	T	0.52983	0.64	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.73148	0.3550	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.75484	0.977;0.986	T	0.75227	-0.3392	10	0.72032	D	0.01	-9.1893	19.4402	0.94817	0.0:1.0:0.0:0.0	.	166;166	Q96JB2;Q96JB2-2	COG3_HUMAN;.	Y	166	ENSP00000258654:S166Y	ENSP00000258654:S166Y	S	+	2	0	COG3	44952374	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.838000	0.97847	0.591000	0.81541	TCC		0.378	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2			3	67	1	0	0.115264	1	0.116087	3	67				
OSBPL3	26031	broad.mit.edu	37	7	24854824	24854824	+	Splice_Site	SNP	T	T	A			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr7:24854824T>A	ENST00000313367.2	-	19	2479		c.e19-2		OSBPL3_ENST00000353930.1_Splice_Site|OSBPL3_ENST00000352860.1_Splice_Site|OSBPL3_ENST00000431825.2_Splice_Site|OSBPL3_ENST00000409069.1_Splice_Site|OSBPL3_ENST00000396431.1_Splice_Site|OSBPL3_ENST00000396429.1_Splice_Site|OSBPL3_ENST00000487020.1_5'Flank	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3						lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TCCCCAAAACTAAAAAGAAGG	0.378																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.e19-2		oxysterol binding protein-like 3							72.0	71.0	71.0					7																	24854824		2203	4300	6503	SO:0001630	splice_region_variant	26031				lipid transport		lipid binding|protein binding	g.chr7:24854824T>A	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.2028-2A>T	7.37:g.24854824T>A						OSBPL3_ENST00000396429.1_Splice_Site|OSBPL3_ENST00000431825.2_Splice_Site|OSBPL3_ENST00000396431.1_Splice_Site|OSBPL3_ENST00000352860.1_Splice_Site|OSBPL3_ENST00000353930.1_Splice_Site|OSBPL3_ENST00000409069.1_Splice_Site		NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			19	2479	-								A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Splice_Site	SNP	ENST00000313367.2	37		CCDS5390.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.899311	0.91962	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.387	0.66953	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	OSBPL3	24821349	1.000000	0.71417	0.111000	0.21465	0.961000	0.63080	8.037000	0.88933	1.876000	0.54355	0.379000	0.24179	.		0.378	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2		Intron	7	132	0	0	0	1	0	7	132				
CHD7	55636	broad.mit.edu	37	8	61654168	61654168	+	Silent	SNP	T	T	A			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr8:61654168T>A	ENST00000423902.2	+	2	656	c.177T>A	c.(175-177)acT>acA	p.T59T	CHD7_ENST00000524602.1_Silent_p.T59T|CHD7_ENST00000525508.1_Silent_p.T59T	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	59					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ATCCTTCAACTAATCAAAATC	0.398																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(175-177)acT>acA		chromodomain helicase DNA binding protein 7							82.0	77.0	79.0					8																	61654168		1965	4157	6122	SO:0001819	synonymous_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61654168T>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.177T>A	8.37:g.61654168T>A						CHD7_ENST00000525508.1_Silent_p.T59T|CHD7_ENST00000524602.1_Silent_p.T59T	p.T59T	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		2	656	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	59					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	c.177T>A	CCDS47865.1																																																																																				0.398	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		3	44	0	0	0	1	0	3	44				
TBC1D23	55773	broad.mit.edu	37	3	100016854	100016854	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr3:100016854G>A	ENST00000394144.4	+	9	971	c.964G>A	c.(964-966)Gtg>Atg	p.V322M	TBC1D23_ENST00000475134.1_Missense_Mutation_p.V185M|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Missense_Mutation_p.V322M	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	322					positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						GGCCATCTCCGTGTCAGAGAT	0.433																																						ENST00000394144.4																			0				breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						c.(964-966)Gtg>Atg		TBC1 domain family, member 23							82.0	74.0	77.0					3																	100016854		2203	4300	6503	SO:0001583	missense	55773					intracellular	Rab GTPase activator activity	g.chr3:100016854G>A	AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.964G>A	3.37:g.100016854G>A	ENSP00000377700:p.Val322Met					TBC1D23_ENST00000475134.1_Missense_Mutation_p.V185M|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Missense_Mutation_p.V322M	p.V322M	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN			9	971	+			322					B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Missense_Mutation	SNP	ENST00000394144.4	37	c.964G>A	CCDS56265.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792460	0.90453	.	.	ENSG00000036054	ENST00000344949;ENST00000394144;ENST00000475134	T;T;T	0.36340	1.27;1.26;1.28	5.62	5.62	0.85841	Rhodanese-like (2);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	M	0.71036	2.16	0.80722	D	1	D;D	0.57257	0.964;0.979	B;P	0.46049	0.306;0.502	T	0.46843	-0.9162	9	.	.	.	.	19.6405	0.95755	0.0:0.0:1.0:0.0	.	322;322	Q9NUY8;Q9NUY8-2	TBC23_HUMAN;.	M	322;322;185	ENSP00000340693:V322M;ENSP00000377700:V322M;ENSP00000418059:V185M	.	V	+	1	0	TBC1D23	101499544	1.000000	0.71417	0.960000	0.40013	0.993000	0.82548	8.955000	0.93058	2.638000	0.89438	0.585000	0.79938	GTG		0.433	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309		3	58	0	0	0	1	0	3	58				
SPEG	10290	broad.mit.edu	37	2	220307861	220307861	+	Intron	SNP	G	G	A			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr2:220307861G>A	ENST00000312358.7	+	2	520				SPEG_ENST00000396698.1_Missense_Mutation_p.R22Q|SPEG_ENST00000396695.2_5'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus						cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCCTTTGGCCGACTCACCCAT	0.587																																						ENST00000396698.1																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(64-66)cGa>cAa		SPEG complex locus							227.0	217.0	220.0					2																	220307861		876	1991	2867	SO:0001627	intron_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220307861G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.389-1514G>A	2.37:g.220307861G>A						SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000312358.7_Intron	p.R22Q			Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	2	71	+		Renal(207;0.0183)	0					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.65G>A	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378703	0.61735	.	.	ENSG00000072195	ENST00000431523;ENST00000396698	T;T	0.59083	0.8;0.29	4.01	4.01	0.46588	.	.	.	.	.	T	0.69940	0.3167	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74343	-0.3696	6	0.59425	D	0.04	.	14.6899	0.69076	0.0:0.0:1.0:0.0	.	.	.	.	Q	22	ENSP00000410986:R22Q;ENSP00000379926:R22Q	ENSP00000379926:R22Q	R	+	2	0	SPEG	220016105	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.066000	0.89486	1.769000	0.52152	0.313000	0.20887	CGA		0.587	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		130	159	0	0	0	1	0	130	159				
PDP2	57546	broad.mit.edu	37	16	66919031	66919031	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr16:66919031G>A	ENST00000311765.2	+	2	1178	c.844G>A	c.(844-846)Gca>Aca	p.A282T	PDP2_ENST00000568720.1_Intron|RP11-61A14.2_ENST00000561475.1_lincRNA	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	282					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|magnesium-dependent protein serine/threonine phosphatase activity (GO:0004724)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CTTGCACGTGGCAAATGCTGG	0.552																																						ENST00000311765.2																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12						c.(844-846)Gca>Aca		pyruvate dehyrogenase phosphatase catalytic subunit 2							90.0	83.0	85.0					16																	66919031		2200	4300	6500	SO:0001583	missense	57546				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding	g.chr16:66919031G>A	AB037769	CCDS10822.1	16q22.1	2012-04-17			ENSG00000172840	ENSG00000172840		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	30263	protein-coding gene	gene with protein product	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit 2"""	615499				9651365	Standard	NM_020786		Approved	KIAA1348, PPM2C2	uc002eqk.2	Q9P2J9	OTTHUMG00000137512	ENST00000311765.2:c.844G>A	16.37:g.66919031G>A	ENSP00000309548:p.Ala282Thr					PDP2_ENST00000568720.1_Intron	p.A282T	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	2	1178	+		Ovarian(137;0.0563)	282					A8K924	Missense_Mutation	SNP	ENST00000311765.2	37	c.844G>A	CCDS10822.1	.	.	.	.	.	.	.	.	.	.	G	32	5.160546	0.94727	.	.	ENSG00000172840	ENST00000311765	T	0.49139	0.79	5.62	5.62	0.85841	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.80341	0.4605	H	0.96208	3.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85739	0.1336	10	0.72032	D	0.01	-9.6803	20.0274	0.97527	0.0:0.0:1.0:0.0	.	282	Q9P2J9	PDP2_HUMAN	T	282	ENSP00000309548:A282T	ENSP00000309548:A282T	A	+	1	0	PDP2	65476532	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.788000	0.99064	2.812000	0.96745	0.563000	0.77884	GCA		0.552	PDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268831.2	NM_020786		3	104	0	0	0	1	0	3	104				
TOPORS	10210	broad.mit.edu	37	9	32541886	32541886	+	Silent	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr9:32541886A>T	ENST00000360538.2	-	3	2753	c.2637T>A	c.(2635-2637)acT>acA	p.T879T	TOPORS_ENST00000379858.1_Silent_p.T814T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	879	Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		tATGGTGTTTAGTTGTATCAG	0.383																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2635-2637)acT>acA		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							162.0	168.0	166.0					9																	32541886		2203	4300	6503	SO:0001819	synonymous_variant	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32541886A>T	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2637T>A	9.37:g.32541886A>T						TOPORS_ENST00000379858.1_Silent_p.T814T	p.T879T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2753	-			879			Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.		O43273|Q6P987|Q9NS55|Q9UNR9	Silent	SNP	ENST00000360538.2	37	c.2637T>A	CCDS6527.1																																																																																				0.383	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		5	281	0	0	0	1	0	5	281				
GRIA3	2892	broad.mit.edu	37	X	122551440	122551440	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chrX:122551440A>T	ENST00000371251.1	+	11	1740	c.1688A>T	c.(1687-1689)tAc>tTc	p.Y563F	GRIA3_ENST00000541091.1_Missense_Mutation_p.Y547F|GRIA3_ENST00000264357.5_Missense_Mutation_p.Y563F|GRIA3_ENST00000542149.1_Missense_Mutation_p.Y563F|GRIA3_ENST00000371256.5_Missense_Mutation_p.Y563F			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	563					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)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	GTCTTTGCTTACATTGGAGTC	0.433																																						ENST00000264357.5																			0				breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57						c.(1687-1689)tAc>tTc		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)						324.0	290.0	302.0					X																	122551440		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122551440A>T	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1688A>T	X.37:g.122551440A>T	ENSP00000360297:p.Tyr563Phe					GRIA3_ENST00000542149.1_Missense_Mutation_p.Y563F|GRIA3_ENST00000541091.1_Missense_Mutation_p.Y547F|GRIA3_ENST00000371256.5_Missense_Mutation_p.Y563F|GRIA3_ENST00000371251.1_Missense_Mutation_p.Y563F	p.Y563F	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN			11	1980	+			563					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.1688A>T	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.258182	0.80246	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	5.84	5.84	0.93424	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.64494	0.2603	L	0.39566	1.225	0.80722	D	1	D;D;D	0.69078	0.997;0.992;0.99	D;D;D	0.76071	0.967;0.987;0.979	T	0.67023	-0.5775	10	0.66056	D	0.02	.	14.2236	0.65843	1.0:0.0:0.0:0.0	.	547;563;563	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	F	563;563;563;563;547	ENSP00000264357:Y563F;ENSP00000446146:Y563F;ENSP00000360302:Y563F;ENSP00000360297:Y563F;ENSP00000446440:Y547F	ENSP00000264357:Y563F	Y	+	2	0	GRIA3	122379121	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.339000	0.96797	1.957000	0.56846	0.486000	0.48141	TAC		0.433	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		5	321	0	0	0	1	0	5	321				
CHD1	1105	broad.mit.edu	37	5	98204341	98204341	+	Splice_Site	SNP	T	T	A			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr5:98204341T>A	ENST00000284049.3	-	30	4257		c.e30-2		CHD1_ENST00000511067.1_Splice_Site	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1						chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TTCACTCAACTAAAGAAAAAG	0.368																																						ENST00000284049.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.e30-2		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						81.0	81.0	81.0					5																	98204341		2203	4300	6503	SO:0001630	splice_region_variant	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98204341T>A	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.4108-2A>T	5.37:g.98204341T>A						CHD1_ENST00000511067.1_Splice_Site		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	30	4257	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)						Q17RZ3	Splice_Site	SNP	ENST00000284049.3	37		CCDS34204.1	.	.	.	.	.	.	.	.	.	.	T	8.522	0.868942	0.17322	.	.	ENSG00000153922	ENST00000284049	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5806	0.76432	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD1	98232241	1.000000	0.71417	0.924000	0.36721	0.210000	0.24377	5.059000	0.64306	2.157000	0.67596	0.533000	0.62120	.		0.368	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270	Intron	4	134	0	0	0	1	0	4	134				
N4BP2	55728	broad.mit.edu	37	4	40123308	40123308	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr4:40123308A>T	ENST00000261435.6	+	9	3993	c.3577A>T	c.(3577-3579)Act>Tct	p.T1193S		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1193					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CTCACAGTCTACTTGTGATGC	0.423																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(3577-3579)Act>Tct		NEDD4 binding protein 2							70.0	70.0	70.0					4																	40123308		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40123308A>T	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.3577A>T	4.37:g.40123308A>T	ENSP00000261435:p.Thr1193Ser						p.T1193S	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			9	3993	+			1193					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.3577A>T	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.564|0.564	-0.844200|-0.844200	0.02671|0.02671	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.15834|.	2.39|.	5.72|5.72	-6.62|-6.62	0.01813|0.01813	.|.	1.785200|.	0.02394|.	N|.	0.080001|.	T|T	0.29588|0.29588	0.0738|0.0738	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	B;B|.	0.13594|.	0.008;0.005|.	B;B|.	0.09377|.	0.004;0.002|.	T|T	0.28235|0.28235	-1.0050|-1.0050	10|5	0.17369|.	T|.	0.5|.	7.2244|7.2244	4.2837|4.2837	0.10844|0.10844	0.2855:0.341:0.2949:0.0786|0.2855:0.341:0.2949:0.0786	.|.	1193;1193|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	S|F	1193;1113|839	ENSP00000261435:T1193S|.	ENSP00000261435:T1193S|.	T|Y	+|+	1|2	0|0	N4BP2|N4BP2	39799703|39799703	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.010000|0.010000	0.07245|0.07245	-1.923000|-1.923000	0.01567|0.01567	-1.760000|-1.760000	0.01312|0.01312	-1.777000|-1.777000	0.00654|0.00654	ACT|TAC		0.423	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		4	150	0	0	0	1	0	4	150				
OR4S2	219431	broad.mit.edu	37	11	55418477	55418477	+	Missense_Mutation	SNP	A	A	T	rs561851982		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr11:55418477A>T	ENST00000312422.2	+	1	98	c.98A>T	c.(97-99)tAc>tTc	p.Y33F		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TCTTTCTTCTACATAATCATT	0.378																																						ENST00000312422.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(97-99)tAc>tTc		olfactory receptor, family 4, subfamily S, member 2							138.0	115.0	123.0					11																	55418477		2181	4032	6213	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418477A>T	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.98A>T	11.37:g.55418477A>T	ENSP00000310337:p.Tyr33Phe						p.Y33F	NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN			1	98	+		all_epithelial(135;0.0748)	33					Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.98A>T	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.232860	0.58777	.	.	ENSG00000174982	ENST00000312422	T	0.04406	3.63	5.36	5.36	0.76844	.	0.000000	0.48286	D	0.000186	T	0.21145	0.0509	M	0.76002	2.32	0.45554	D	0.998506	D	0.89917	1.0	D	0.85130	0.997	T	0.00293	-1.1841	10	0.72032	D	0.01	.	14.1779	0.65555	1.0:0.0:0.0:0.0	.	33	Q8NH73	OR4S2_HUMAN	F	33	ENSP00000310337:Y33F	ENSP00000310337:Y33F	Y	+	2	0	OR4S2	55175053	0.999000	0.42202	0.693000	0.30195	0.164000	0.22412	4.621000	0.61233	2.031000	0.59945	0.448000	0.29417	TAC		0.378	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		5	269	0	0	0	1	0	5	269				
ST6GALNAC1	55808	broad.mit.edu	37	17	74622001	74622001	+	Splice_Site	SNP	C	C	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr17:74622001C>T	ENST00000156626.7	-	8	1705		c.e8-1		ST6GALNAC1_ENST00000590878.1_5'Flank	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1						oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						CCTCAGAAACCTGTGAAATGC	0.567																																						ENST00000156626.7																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						c.e8-1		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1							73.0	76.0	75.0					17																	74622001		2203	4300	6503	SO:0001630	splice_region_variant	55808				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	g.chr17:74622001C>T	Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.1506-1G>A	17.37:g.74622001C>T								NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN			8	1705	-								Q6UW90|Q9NSC6	Splice_Site	SNP	ENST00000156626.7	37		CCDS11748.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234677	0.79800	.	.	ENSG00000070526	ENST00000156626;ENST00000359088	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0674	0.89395	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ST6GALNAC1	72133596	1.000000	0.71417	0.852000	0.33557	0.865000	0.49528	6.978000	0.76147	2.595000	0.87683	0.655000	0.94253	.		0.567	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414	Intron	3	97	0	0	0	1	0	3	97				
NETO2	81831	broad.mit.edu	37	16	47165938	47165938	+	Splice_Site	SNP	T	T	A			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr16:47165938T>A	ENST00000562435.1	-	2	419		c.e2-2		NETO2_ENST00000303155.5_Splice_Site	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2						regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TTAACAACACTAGAGAAATAA	0.313										HNSCC(25;0.065)																												ENST00000562435.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29						c.e2-2		neuropilin (NRP) and tolloid (TLL)-like 2							173.0	166.0	168.0					16																	47165938		2202	4300	6502	SO:0001630	splice_region_variant	81831					integral to membrane	receptor activity	g.chr16:47165938T>A	AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.35-2A>T	16.37:g.47165938T>A		HNSCC(25;0.065)				NETO2_ENST00000303155.5_Splice_Site		NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN			2	419	-		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)						J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Splice_Site	SNP	ENST00000562435.1	37		CCDS10727.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.270482	0.80469	.	.	ENSG00000171208	ENST00000303155	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2987	0.73931	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NETO2	45723439	1.000000	0.71417	0.986000	0.45419	0.967000	0.64934	6.001000	0.70685	1.999000	0.58509	0.455000	0.32223	.		0.313	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256766.2	NM_018092	Intron	5	201	0	0	0	1	0	5	201				
OR4K2	390431	broad.mit.edu	37	14	20345072	20345072	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr14:20345072A>T	ENST00000298642.2	+	1	682	c.646A>T	c.(646-648)Aat>Tat	p.N216Y		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTTTTATTTAATTCATATGT	0.383																																						ENST00000298642.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43						c.(646-648)Aat>Tat		olfactory receptor, family 4, subfamily K, member 2							254.0	260.0	258.0					14																	20345072		2203	4299	6502	SO:0001583	missense	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20345072A>T		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.646A>T	14.37:g.20345072A>T	ENSP00000298642:p.Asn216Tyr						p.N216Y	NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	682	+	all_cancers(95;0.00108)		216					B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	c.646A>T	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	3.282	-0.146883	0.06627	.	.	ENSG00000165762	ENST00000298642	T	0.35236	1.32	5.0	2.64	0.31445	GPCR, rhodopsin-like superfamily (1);	0.719748	0.12453	N	0.467618	T	0.19846	0.0477	N	0.01874	-0.695	0.21878	N	0.999494	B	0.28584	0.216	B	0.40038	0.317	T	0.36578	-0.9742	10	0.72032	D	0.01	.	6.9363	0.24468	0.7633:0.1514:0.0853:0.0	.	216	Q8NGD2	OR4K2_HUMAN	Y	216	ENSP00000298642:N216Y	ENSP00000298642:N216Y	N	+	1	0	OR4K2	19414912	0.000000	0.05858	0.902000	0.35471	0.066000	0.16364	-0.056000	0.11787	0.068000	0.16574	-2.934000	0.00087	AAT		0.383	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			7	384	0	0	0	1	0	7	384				
F5	2153	broad.mit.edu	37	1	169510502	169510502	+	Missense_Mutation	SNP	G	G	T	rs140018525		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr1:169510502G>T	ENST00000367797.3	-	13	4027	c.3826C>A	c.(3826-3828)Ctt>Att	p.L1276I	F5_ENST00000367796.3_Missense_Mutation_p.L1281I	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1276	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TCTGGAGAAAGGGGCATCTGA	0.502													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20915	0.0		0.0	False		,,,				2504	0.0					ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(3841-3843)Ctt>Att		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						219.0	233.0	228.0					1																	169510502		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510502G>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3826C>A	1.37:g.169510502G>T	ENSP00000356771:p.Leu1276Ile					F5_ENST00000367797.3_Missense_Mutation_p.L1276I	p.L1281I			P12259	FA5_HUMAN			13	4042	-	all_hematologic(923;0.208)		1276			35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3841C>A	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987829	0.35036	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.36520	1.25;1.25	4.13	-2.91	0.05631	.	.	.	.	.	T	0.13798	0.0334	M	0.62723	1.935	0.09310	N	0.999999	P	0.37061	0.58	B	0.35114	0.196	T	0.16778	-1.0391	8	0.22706	T	0.39	-2.9938	9.7911	0.40706	0.642:0.0:0.358:0.0	.	1276	P12259	FA5_HUMAN	I	1276;1281	ENSP00000356771:L1276I;ENSP00000356770:L1281I	ENSP00000356770:L1281I	L	-	1	0	F5	167777126	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.767000	0.04720	-0.412000	0.07519	-0.364000	0.07487	CTT		0.502	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		5	609	1	0	0.0293803	1	0.0298031	5	609				
ALPK2	115701	broad.mit.edu	37	18	56247390	56247390	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr18:56247390A>T	ENST00000361673.3	-	4	831	c.618T>A	c.(616-618)agT>agA	p.S206R	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	206						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTCTGTGTTACTTGGATCAT	0.403																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(616-618)agT>agA		alpha-kinase 2							157.0	166.0	163.0					18																	56247390		2183	4283	6466	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56247390A>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.618T>A	18.37:g.56247390A>T	ENSP00000354991:p.Ser206Arg						p.S206R	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			4	831	-			206					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.618T>A	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	A	10.45	1.353365	0.24512	.	.	ENSG00000198796	ENST00000361673	T	0.42900	0.96	5.64	0.281	0.15687	.	.	.	.	.	T	0.21307	0.0513	N	0.22421	0.69	0.09310	N	1	B	0.26002	0.139	B	0.19391	0.025	T	0.26155	-1.0111	9	0.10636	T	0.68	-0.7841	4.8253	0.13412	0.5327:0.3043:0.163:0.0	.	206	Q86TB3	ALPK2_HUMAN	R	206	ENSP00000354991:S206R	ENSP00000354991:S206R	S	-	3	2	ALPK2	54398370	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.393000	0.07305	-0.170000	0.10816	-0.371000	0.07208	AGT		0.403	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		7	239	0	0	0	1	0	7	239				
SLC9C2	284525	broad.mit.edu	37	1	173523950	173523950	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr1:173523950T>A	ENST00000367714.3	-	11	1641	c.1219A>T	c.(1219-1221)Ata>Tta	p.I407L	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Missense_Mutation_p.I305L|SLC9C2_ENST00000466087.1_Intron	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	407					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										ACATAGAGTATAAACTAAAAA	0.294																																						ENST00000367714.3																			0											c.(1219-1221)Ata>Tta		solute carrier family 9, member C2 (putative)							92.0	96.0	95.0					1																	173523950		2202	4295	6497	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173523950T>A	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1219A>T	1.37:g.173523950T>A	ENSP00000356687:p.Ile407Leu					SLC9C2_ENST00000466087.1_Intron|SLC9C2_ENST00000536496.1_Missense_Mutation_p.I305L	p.I407L	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN			11	1641	-			407					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.1219A>T	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	T	0.037	-1.302479	0.01353	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.21361	2.01;2.01	5.71	-1.16	0.09678	Cation/H+ exchanger (1);	0.295160	0.29159	N	0.012977	T	0.01558	0.0050	N	0.11789	0.175	0.22581	N	0.998961	B	0.14805	0.011	B	0.15052	0.012	T	0.39210	-0.9625	10	0.02654	T	1	-22.4728	1.4153	0.02300	0.404:0.0866:0.1552:0.3542	.	407	Q5TAH2	S9A11_HUMAN	L	407;305	ENSP00000356687:I407L;ENSP00000445437:I305L	ENSP00000356687:I407L	I	-	1	0	SLC9A11	171790573	0.932000	0.31603	0.705000	0.30386	0.054000	0.15201	-0.006000	0.12833	0.054000	0.16065	0.533000	0.62120	ATA		0.294	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		6	146	0	0	0	1	0	6	146				
SLIT2	9353	broad.mit.edu	37	4	20552448	20552448	+	Splice_Site	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr4:20552448A>T	ENST00000504154.1	+	25	2741		c.e25-1		SLIT2_ENST00000273739.5_Splice_Site|SLIT2_ENST00000503837.1_Splice_Site|SLIT2_ENST00000503823.1_Splice_Site|SLIT2_ENST00000509394.2_Splice_Site	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)						apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCTTTCTTTTAGTTCTCTACA	0.313																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.e25-1		slit homolog 2 (Drosophila)							126.0	119.0	122.0					4																	20552448		2202	4300	6502	SO:0001630	splice_region_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20552448A>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2490-1A>T	4.37:g.20552448A>T						SLIT2_ENST00000509394.2_Splice_Site|SLIT2_ENST00000503823.1_Splice_Site|SLIT2_ENST00000503837.1_Splice_Site|SLIT2_ENST00000273739.5_Splice_Site		NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			25	2741	+								B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Splice_Site	SNP	ENST00000504154.1	37		CCDS3426.1	.	.	.	.	.	.	.	.	.	.	A	17.00	3.275572	0.59649	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5602	0.84551	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLIT2	20161546	1.000000	0.71417	0.916000	0.36221	0.476000	0.33039	9.200000	0.95010	2.367000	0.80283	0.528000	0.53228	.		0.313	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		Intron	7	80	0	0	0	1	0	7	80				
DPAGT1	1798	broad.mit.edu	37	11	118981555	118981555	+	5'Flank	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr11:118981555A>T	ENST00000409993.2	-	0	0				C2CD2L_ENST00000528586.1_5'Flank|C2CD2L_ENST00000336702.3_Splice_Site			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)						cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TCCTGTCTGTAGTTGGAAGTC	0.527																																						ENST00000336702.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						c.e4-1		C2CD2-like							138.0	140.0	139.0					11																	118981555		2200	4295	6495	SO:0001631	upstream_gene_variant	9854					integral to membrane		g.chr11:118981555A>T	Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533		11.37:g.118981555A>T	Exception_encountered							NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN			4	929	+								O15216|Q86WV9|Q9BWE6	Splice_Site	SNP	ENST00000409993.2	37		CCDS8411.1	.	.	.	.	.	.	.	.	.	.	A	9.174	1.021897	0.19433	.	.	ENSG00000172375	ENST00000336702	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8872	0.52608	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C2CD2L	118486765	1.000000	0.71417	0.855000	0.33649	0.173000	0.22820	7.146000	0.77373	2.026000	0.59711	0.533000	0.62120	.		0.527	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382		5	310	0	0	0	1	0	5	310				
NCOA2	10499	broad.mit.edu	37	8	71129001	71129001	+	Splice_Site	SNP	T	T	A			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr8:71129001T>A	ENST00000452400.2	-	3	163		c.e3-2			NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2						cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TATCAGCAACTAAAACAGAAA	0.408			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"""RUNXBP2, HEY1"""		"""AML, Chondrosarcoma"""	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.e3-2		nuclear receptor coactivator 2							98.0	92.0	94.0					8																	71129001		1831	4100	5931	SO:0001630	splice_region_variant	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71129001T>A	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.19-2A>T	8.37:g.71129001T>A								NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		3	163	-	Breast(64;0.201)							Q14CD2	Splice_Site	SNP	ENST00000452400.2	37		CCDS47872.1																																																																																				0.408	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1		Intron	5	115	0	0	0	1	0	5	115				
KRTAP4-11	653240	broad.mit.edu	37	17	39274371	39274371	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr17:39274371C>T	ENST00000391413.2	-	1	235	c.197G>A	c.(196-198)cGc>cAc	p.R66H		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	66	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)			GCATCTGGGGCGGCAGCAGGT	0.657																																						ENST00000391413.2																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(196-198)cGc>cAc		keratin associated protein 4-11							8.0	13.0	11.0					17																	39274371		679	1584	2263	SO:0001583	missense	653240					keratin filament		g.chr17:39274371C>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.197G>A	17.37:g.39274371C>T	ENSP00000375232:p.Arg66His						p.R66H	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	235	-		Breast(137;0.000496)	66		Missing (in allele KAP4.14).	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.197G>A	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	12.37	1.916814	0.33815	.	.	ENSG00000212721	ENST00000391413	T	0.01505	4.82	4.1	-0.431	0.12295	.	0.329725	0.13134	U	0.411234	T	0.02688	0.0081	M	0.78637	2.42	0.09310	N	1	B	0.18461	0.028	B	0.15484	0.013	T	0.35773	-0.9775	10	0.52906	T	0.07	.	3.9698	0.09447	0.1589:0.4537:0.0:0.3874	.	66	Q9BYQ6	KR411_HUMAN	H	66	ENSP00000375232:R66H	ENSP00000375232:R66H	R	-	2	0	KRTAP4-11	36527897	0.000000	0.05858	0.006000	0.13384	0.221000	0.24807	-1.405000	0.02492	0.063000	0.16370	-0.192000	0.12808	CGC		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			3	26	0	0	0	1	0	3	26				
EIF2AK3	9451	broad.mit.edu	37	2	88890125	88890125	+	Splice_Site	SNP	T	T	A			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr2:88890125T>A	ENST00000303236.3	-	6	1304		c.e6-2		EIF2AK3_ENST00000419748.1_Splice_Site	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						AGTACAAAACTAAACAAAAAT	0.303																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3																			0				ovary(3)	3						c.e6-2		eukaryotic translation initiation factor 2-alpha kinase 3							40.0	41.0	41.0					2																	88890125		2199	4297	6496	SO:0001630	splice_region_variant	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88890125T>A	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.1003-2A>T	2.37:g.88890125T>A						EIF2AK3_ENST00000419748.1_Splice_Site		NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN			6	1304	-								A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Splice_Site	SNP	ENST00000303236.3	37		CCDS33241.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.350153	0.82132	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1438	0.81548	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	EIF2AK3	88671240	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	7.463000	0.80869	2.210000	0.71456	0.528000	0.53228	.		0.303	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836	Intron	4	55	0	0	0	1	0	4	55				
DISP1	84976	broad.mit.edu	37	1	223163965	223163965	+	Splice_Site	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr1:223163965A>T	ENST00000284476.6	+	4	703		c.e4-1		DISP1_ENST00000495684.1_Splice_Site	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)						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)			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)		TGTGTTTTGTAGTTATGCAGC	0.478																																						ENST00000284476.6																			0				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.e4-1		dispatched homolog 1 (Drosophila)							205.0	187.0	193.0					1																	223163965		2203	4300	6503	SO:0001630	splice_region_variant	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.chr1:223163965A>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.540-1A>T	1.37:g.223163965A>T						DISP1_ENST00000495684.1_Splice_Site		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	4	703	+								Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Splice_Site	SNP	ENST00000284476.6	37		CCDS1536.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.335837	0.81801	.	.	ENSG00000154309	ENST00000284476	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5934	0.76558	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DISP1	221230588	1.000000	0.71417	0.606000	0.28943	0.856000	0.48823	9.339000	0.96797	2.088000	0.63022	0.454000	0.30748	.		0.478	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890	Intron	5	203	0	0	0	1	0	5	203				
VPS8	23355	broad.mit.edu	37	3	184570286	184570286	+	Splice_Site	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr3:184570286A>T	ENST00000437079.3	+	11	924		c.e11-1		VPS8_ENST00000436792.2_Splice_Site|VPS8_ENST00000446204.2_Splice_Site|VPS8_ENST00000287546.4_Splice_Site	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)								zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TTCTCTGTTTAGTTTACAGAT	0.299																																						ENST00000287546.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.e10-1		vacuolar protein sorting 8 homolog (S. cerevisiae)							77.0	71.0	73.0					3																	184570286		1808	4071	5879	SO:0001630	splice_region_variant	23355						zinc ion binding	g.chr3:184570286A>T	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.754-1A>T	3.37:g.184570286A>T						VPS8_ENST00000437079.3_Splice_Site|VPS8_ENST00000446204.2_Splice_Site|VPS8_ENST00000436792.2_Splice_Site		NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		10	924	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)							A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Splice_Site	SNP	ENST00000437079.3	37		CCDS46971.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.406589	0.83230	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3766	0.83401	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VPS8	186052980	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.834000	0.92094	2.263000	0.75096	0.533000	0.62120	.		0.299	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303	Intron	5	93	0	0	0	1	0	5	93				
PREP	5550	broad.mit.edu	37	6	105800954	105800954	+	Splice_Site	SNP	T	T	A			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr6:105800954T>A	ENST00000369110.3	-	7	910		c.e7-2			NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase						proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	ATCAGATAACTAAAAAAGAAA	0.343																																						ENST00000369110.3																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.e7-2		prolyl endopeptidase	Oxytocin(DB00107)						79.0	86.0	84.0					6																	105800954		2203	4300	6503	SO:0001630	splice_region_variant	5550				proteolysis		serine-type endopeptidase activity	g.chr6:105800954T>A		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.718-2A>T	6.37:g.105800954T>A								NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN			7	910	-		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)						Q8N6D4	Splice_Site	SNP	ENST00000369110.3	37		CCDS5053.1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.404919	0.62288	.	.	ENSG00000085377	ENST00000369110	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9901	0.71381	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PREP	105907647	1.000000	0.71417	0.960000	0.40013	0.657000	0.38888	4.794000	0.62482	2.240000	0.73641	0.533000	0.62120	.		0.343	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1		Intron	8	95	0	0	0	1	0	8	95				
DAW1	164781	broad.mit.edu	37	2	228771852	228771852	+	Splice_Site	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr2:228771852A>T	ENST00000309931.2	+	10	941		c.e10-1		DAW1_ENST00000545118.1_Splice_Site|DAW1_ENST00000373666.2_Splice_Site	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1							cilium (GO:0005929)											TTTTAATTGTAGCTGTGGGAT	0.378																																						ENST00000373666.2																			0											c.e10-1		dynein assembly factor with WDR repeat domains 1							87.0	84.0	85.0					2																	228771852		2203	4300	6503	SO:0001630	splice_region_variant	164781							g.chr2:228771852A>T		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.859-1A>T	2.37:g.228771852A>T						DAW1_ENST00000545118.1_Splice_Site|DAW1_ENST00000309931.2_Splice_Site								10	1494	+								Q6ZRY1|Q8N776	Splice_Site	SNP	ENST00000309931.2	37		CCDS2470.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.144556	0.77888	.	.	ENSG00000123977	ENST00000373666;ENST00000309931;ENST00000545118	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2902	0.66273	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR69	228480096	1.000000	0.71417	0.894000	0.35097	0.965000	0.64279	7.975000	0.88055	2.038000	0.60285	0.533000	0.62120	.		0.378	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821	Intron	4	136	0	0	0	1	0	4	136				
F2	2147	broad.mit.edu	37	11	46760614	46760614	+	Silent	SNP	A	A	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr11:46760614A>G	ENST00000311907.5	+	13	1727	c.1671A>G	c.(1669-1671)gaA>gaG	p.E557E	F2_ENST00000530231.1_Silent_p.E518E	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	557	High affinity receptor-binding region which is also known as the TP508 peptide.|Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|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)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)	p.E557E(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	AGCCTGATGAAGGGAAACGAG	0.552																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)	ENST00000311907.5																			1	Substitution - coding silent(1)	p.E557E(1)	lung(1)	endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27						c.(1669-1671)gaA>gaG		coagulation factor II (thrombin)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)						121.0	113.0	115.0					11																	46760614		2201	4299	6500	SO:0001819	synonymous_variant	2147				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	g.chr11:46760614A>G	M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"""Endogenous ligands"""	3535	protein-coding gene	gene with protein product	"""prepro-coagulation factor II"""	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.1671A>G	11.37:g.46760614A>G						F2_ENST00000530231.1_Silent_p.E518E	p.E557E	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.146)	13	1727	+		all_lung(304;0.000414)|Lung NSC(402;0.0011)	557			High affinity receptor-binding region which is also known as the TP508 peptide.|Peptidase S1.		B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Silent	SNP	ENST00000311907.5	37	c.1671A>G	CCDS31476.1																																																																																				0.552	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1			3	181	0	0	0	1	0	3	181				
R3HDM1	23518	broad.mit.edu	37	2	136481505	136481505	+	Splice_Site	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr2:136481505A>T	ENST00000264160.4	+	26	3314		c.e26-1		R3HDM1_ENST00000329971.3_Splice_Site|R3HDM1_ENST00000409478.1_Splice_Site|R3HDM1_ENST00000409606.1_Splice_Site|R3HDM1_ENST00000410054.1_Splice_Site	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1								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)		TTTCTATTCTAGTTGTTGGGA	0.388																																						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.e26-1		R3H domain containing 1							42.0	48.0	46.0					2																	136481505		2203	4300	6503	SO:0001630	splice_region_variant	23518						nucleic acid binding	g.chr2:136481505A>T	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.2945-1A>T	2.37:g.136481505A>T						R3HDM1_ENST00000410054.1_Splice_Site|R3HDM1_ENST00000409606.1_Splice_Site|R3HDM1_ENST00000329971.3_Splice_Site|R3HDM1_ENST00000409478.1_Splice_Site		NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	26	3314	+								A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Splice_Site	SNP	ENST00000264160.4	37		CCDS2177.1	.	.	.	.	.	.	.	.	.	.	A	18.08	3.544897	0.65198	.	.	ENSG00000048991	ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606;ENST00000429703	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7713	0.78170	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	R3HDM1	136197975	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.883000	0.92426	2.185000	0.69588	0.454000	0.30748	.		0.388	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361	Intron	4	84	0	0	0	1	0	4	84				
EP300	2033	broad.mit.edu	37	22	41566408	41566408	+	Splice_Site	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr22:41566408A>T	ENST00000263253.7	+	27	5505		c.e27-1		RNU6-375P_ENST00000517050.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300						apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|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 type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TTGTATTGTTAGTTACACAAC	0.383			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.e27-1		E1A binding protein p300							109.0	99.0	102.0					22																	41566408		2203	4300	6503	SO:0001630	splice_region_variant	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41566408A>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4287-1A>T	22.37:g.41566408A>T						RP1-85F18.6_ENST00000415054.1_RNA		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			27	5505	+								B1AKC2	Splice_Site	SNP	ENST00000263253.7	37		CCDS14010.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.946030	0.73672	.	.	ENSG00000100393	ENST00000263253	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2125	0.48806	0.8466:0.1534:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EP300	39896354	1.000000	0.71417	0.662000	0.29724	0.510000	0.34073	9.237000	0.95368	2.121000	0.65114	0.533000	0.62120	.		0.383	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	Intron	4	117	0	0	0	1	0	4	117				
DCAF17	80067	broad.mit.edu	37	2	172314880	172314880	+	Splice_Site	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr2:172314880A>T	ENST00000375255.3	+	8	1059		c.e8-1		DCAF17_ENST00000539783.1_Splice_Site|DCAF17_ENST00000468592.1_Intron	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17						protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						TTTTGTTTTTAGTTCATGCAA	0.358																																						ENST00000375255.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						c.e8-1		DDB1 and CUL4 associated factor 17							94.0	89.0	91.0					2																	172314880		1853	4098	5951	SO:0001630	splice_region_variant	80067					CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus		g.chr2:172314880A>T	AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"""DDB1 and CUL4 associated factors"""	25784	protein-coding gene	gene with protein product	"""Woodhouse-Sakati syndrome"""	612515	"""chromosome 2 open reading frame 37"""	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	ENST00000375255.3:c.733-1A>T	2.37:g.172314880A>T						DCAF17_ENST00000468592.1_Intron|DCAF17_ENST00000539783.1_Splice_Site		NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN			8	1059	+								B2RTW5|Q53TN3|Q9H908	Splice_Site	SNP	ENST00000375255.3	37		CCDS2243.2	.	.	.	.	.	.	.	.	.	.	A	20.4	3.984850	0.74474	.	.	ENSG00000115827	ENST00000375255;ENST00000539783	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6994	0.77533	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCAF17	172023126	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.803000	0.75180	2.192000	0.70111	0.477000	0.44152	.		0.358	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255342.2	NM_025000	Intron	12	136	0	0	0	1	0	12	136				
HMGN2P46	283651	broad.mit.edu	37	15	45848217	45848217	+	lincRNA	SNP	A	A	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr15:45848217A>G	ENST00000557965.1	+	0	0				HMGN2P46_ENST00000409454.1_RNA																							ATAAAAATGCAGATTTTGTTT	0.313																																						ENST00000409454.1																			0																				15.0	16.0	16.0					15																	45848217		1570	3095	4665			283651							g.chr15:45848217A>G																													15.37:g.45848217A>G														0	1212	+									RNA	SNP	ENST00000557965.1	37																																																																																						0.313	RP11-96O20.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000416553.1			3	41	0	0	0	1	0	3	41				
SMG7	9887	broad.mit.edu	37	1	183495733	183495733	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr1:183495733A>T	ENST00000347615.2	+	5	434	c.315A>T	c.(313-315)ttA>ttT	p.L105F	SMG7_ENST00000507469.1_Missense_Mutation_p.L105F|SMG7_ENST00000367537.3_Missense_Mutation_p.L134F|SMG7_ENST00000456731.2_Missense_Mutation_p.L63F|SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000515829.2_Missense_Mutation_p.L105F|SMG7_ENST00000508461.1_Missense_Mutation_p.L63F	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	105					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TCTTTTAGTTATTACAAGAAC	0.348																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(400-402)ttA>ttT		SMG7 nonsense mediated mRNA decay factor							78.0	83.0	81.0					1																	183495733		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183495733A>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.315A>T	1.37:g.183495733A>T	ENSP00000340766:p.Leu105Phe					SMG7_ENST00000507469.1_Missense_Mutation_p.L105F|SMG7_ENST00000508461.1_Missense_Mutation_p.L63F|SMG7_ENST00000347615.2_Missense_Mutation_p.L105F|SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000515829.2_Missense_Mutation_p.L105F|SMG7_ENST00000456731.2_Missense_Mutation_p.L63F	p.L134F			Q92540	SMG7_HUMAN			6	597	+			105					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.402A>T	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.209266	0.58343	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99	5.61	3.26	0.37387	Telomerase activating protein Est1 (1);	0.000000	0.64402	D	0.000003	T	0.38983	0.1061	M	0.70275	2.135	0.58432	D	0.999994	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.994;1.0;1.0;0.999;1.0;1.0	T	0.14144	-1.0483	10	0.51188	T	0.08	-6.5871	5.7363	0.18069	0.7332:0.0:0.1402:0.1266	.	63;134;63;105;105;105	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	F	63;134;63;63;105;105;105	ENSP00000407629:L63F;ENSP00000356507:L134F;ENSP00000426915:L63F;ENSP00000388390:L63F;ENSP00000340766:L105F;ENSP00000425133:L105F;ENSP00000421358:L105F	ENSP00000340766:L105F	L	+	3	2	SMG7	181762356	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.431000	0.44775	1.056000	0.40484	0.533000	0.62120	TTA		0.348	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		4	143	0	0	0	1	0	4	143				
MSMP	692094	broad.mit.edu	37	9	35753222	35753222	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr9:35753222T>G	ENST00000436428.2	-	3	434	c.295A>C	c.(295-297)Acc>Ccc	p.T99P	RGP1_ENST00000378078.4_3'UTR|MSMP_ENST00000414286.1_5'UTR	NM_001044264.2	NP_001037729.1	Q1L6U9	MSMP_HUMAN	microseminoprotein, prostate associated	99						cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						AACTGGCAGGTTCCTGCCTCC	0.607																																						ENST00000436428.2																			0				endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						c.(295-297)Acc>Ccc		microseminoprotein, prostate associated							45.0	50.0	48.0					9																	35753222		2099	4214	6313	SO:0001583	missense	692094					extracellular region		g.chr9:35753222T>G	DQ012170	CCDS43797.1	9p13.3	2012-10-02			ENSG00000215183	ENSG00000215183			29663	protein-coding gene	gene with protein product		612191				17338636	Standard	NM_001044264		Approved	PC-3, PSMP	uc003zyb.2	Q1L6U9	OTTHUMG00000019882	ENST00000436428.2:c.295A>C	9.37:g.35753222T>G	ENSP00000419194:p.Thr99Pro					RGP1_ENST00000378078.4_3'UTR|MSMP_ENST00000414286.1_5'UTR	p.T99P	NM_001044264.2	NP_001037729.1	Q1L6U9	MSMP_HUMAN			3	434	-			99						Missense_Mutation	SNP	ENST00000436428.2	37	c.295A>C	CCDS43797.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.533133	0.45073	.	.	ENSG00000215183	ENST00000436428	T	0.08896	3.04	5.92	4.77	0.60923	.	0.224065	0.18966	U	0.126256	T	0.10465	0.0256	L	0.48642	1.525	0.38875	D	0.956776	P	0.40931	0.733	B	0.42112	0.376	T	0.06250	-1.0837	10	0.72032	D	0.01	-4.7587	8.453	0.32882	0.0:0.0674:0.1329:0.7997	.	99	Q1L6U9	MSMP_HUMAN	P	99	ENSP00000419194:T99P	ENSP00000419194:T99P	T	-	1	0	MSMP	35743222	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.966000	0.56795	1.038000	0.40049	0.533000	0.62120	ACC		0.607	MSMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052384.2	NM_001044264		9	38	0	0	0	1	0	9	38				
ACSM2A	123876	broad.mit.edu	37	16	20482856	20482856	+	Splice_Site	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr16:20482856A>T	ENST00000573854.1	+	6	854		c.e6-1		ACSM2A_ENST00000219054.6_Splice_Site|ACSM2A_ENST00000536134.1_Splice_Site|ACSM2A_ENST00000575690.1_Splice_Site|ACSM2A_ENST00000575558.1_Splice_Site|ACSM2A_ENST00000417235.2_Splice_Site|ACSM2A_ENST00000396104.2_Splice_Site	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A						fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CTGTGTTTTCAGTTGGACAGG	0.483																																						ENST00000573854.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.e6-1		acyl-CoA synthetase medium-chain family member 2A							119.0	113.0	115.0					16																	20482856		2203	4297	6500	SO:0001630	splice_region_variant	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20482856A>T	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.741-1A>T	16.37:g.20482856A>T						ACSM2A_ENST00000575690.1_Splice_Site|ACSM2A_ENST00000575558.1_Splice_Site|ACSM2A_ENST00000396104.2_Splice_Site|ACSM2A_ENST00000536134.1_Splice_Site|ACSM2A_ENST00000417235.2_Splice_Site|ACSM2A_ENST00000219054.6_Splice_Site		NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN			6	854	+								B3KTT9|O75202	Splice_Site	SNP	ENST00000573854.1	37		CCDS32401.1	.	.	.	.	.	.	.	.	.	.	A	6.487	0.458044	0.12342	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	.	.	.	3.21	-0.528	0.11905	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0088	0.30340	0.4382:0.0:0.5618:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACSM2A	20390357	0.998000	0.40836	0.000000	0.03702	0.290000	0.27261	2.864000	0.48404	-0.248000	0.09583	0.248000	0.18094	.		0.483	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845	Intron	6	295	0	0	0	1	0	6	295				
SAMD9	54809	broad.mit.edu	37	7	92733627	92733627	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr7:92733627A>T	ENST00000379958.2	-	3	2053	c.1784T>A	c.(1783-1785)aTa>aAa	p.I595K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	595						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTGGTGTTTTATTAATCTTGC	0.353																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(1783-1785)aTa>aAa		sterile alpha motif domain containing 9							130.0	125.0	127.0					7																	92733627		2203	4300	6503	SO:0001583	missense	54809					cytoplasm		g.chr7:92733627A>T	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.1784T>A	7.37:g.92733627A>T	ENSP00000369292:p.Ile595Lys						p.I595K	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	2053	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		595					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.1784T>A	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	A	0.442	-0.898090	0.02472	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.24538	1.85;2.66	3.79	-0.51	0.11973	.	.	.	.	.	T	0.11153	0.0272	N	0.08118	0	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.24977	-1.0145	9	0.54805	T	0.06	.	4.1992	0.10458	0.5728:0.0:0.2491:0.1782	.	595	Q5K651	SAMD9_HUMAN	K	595	ENSP00000369292:I595K;ENSP00000414529:I595K	ENSP00000369292:I595K	I	-	2	0	SAMD9	92571563	0.001000	0.12720	0.056000	0.19401	0.047000	0.14425	0.691000	0.25467	-0.100000	0.12241	0.491000	0.48974	ATA		0.353	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		4	86	0	0	0	1	0	4	86				
TAS2R3	50831	broad.mit.edu	37	7	141464695	141464695	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr7:141464695A>T	ENST00000247879.2	+	1	799	c.737A>T	c.(736-738)tAc>tTc	p.Y246F	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	246					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ttcttactttactttcttgct	0.418																																						ENST00000247879.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14						c.(736-738)tAc>tTc		taste receptor, type 2, member 3							93.0	84.0	87.0					7																	141464695		2203	4300	6503	SO:0001583	missense	50831				sensory perception of taste		taste receptor activity	g.chr7:141464695A>T	AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.737A>T	7.37:g.141464695A>T	ENSP00000247879:p.Tyr246Phe					SSBP1_ENST00000465582.1_Intron	p.Y246F	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN			1	799	+	Melanoma(164;0.0171)		246					A4D1U2|Q645W2|Q75MV6	Missense_Mutation	SNP	ENST00000247879.2	37	c.737A>T	CCDS5867.1	.	.	.	.	.	.	.	.	.	.	A	15.62	2.886789	0.51908	.	.	ENSG00000127362	ENST00000247879	T	0.01172	5.23	5.71	5.71	0.89125	.	0.146929	0.44097	D	0.000497	T	0.04588	0.0125	L	0.59967	1.855	0.24084	N	0.995936	D	0.89917	1.0	D	0.87578	0.998	T	0.26326	-1.0106	10	0.87932	D	0	.	8.4777	0.33023	0.914:0.0:0.086:0.0	.	246	Q9NYW6	TA2R3_HUMAN	F	246	ENSP00000247879:Y246F	ENSP00000247879:Y246F	Y	+	2	0	TAS2R3	141111164	0.776000	0.28616	0.946000	0.38457	0.325000	0.28411	3.110000	0.50352	2.180000	0.69256	0.455000	0.32223	TAC		0.418	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1			8	185	0	0	0	1	0	8	185				
SSPO	23145	broad.mit.edu	37	7	149500430	149500430	+	RNA	SNP	T	T	A			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr7:149500430T>A	ENST00000378016.2	+	0	7956							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGGGCATTGTGTGGAAGGTG	0.652																																						ENST00000378016.2																			0													SCO-spondin							42.0	49.0	47.0					7																	149500430		2097	4218	6315			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149500430T>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149500430T>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	7956	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.652	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				2	0	0	0	0	1	0	2	0				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	23	0	0	0	1	0	3	23				
TTN	7273	broad.mit.edu	37	2	179614538	179614538	+	Intron	SNP	C	C	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr2:179614538C>T	ENST00000591111.1	-	45	10585				TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.V4197I|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTAAAAGGACTCCATTTTGA	0.363																																						ENST00000360870.5																			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.(12589-12591)Gtc>Atc		titin							52.0	56.0	55.0					2																	179614538		2199	4296	6495	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179614538C>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.10360+3312G>A	2.37:g.179614538C>T						TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA	p.V4197I	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12811	-			3541					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.12589G>A		.	.	.	.	.	.	.	.	.	.	C	9.640	1.138754	0.21123	.	.	ENSG00000155657	ENST00000360870	T	0.66815	-0.23	5.84	-1.26	0.09376	.	.	.	.	.	T	0.46249	0.1383	L	0.33293	1	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.23583	-1.0184	9	0.22706	T	0.39	.	2.41	0.04422	0.1083:0.277:0.351:0.2637	.	4197	Q8WZ42-6	.	I	4197	ENSP00000354117:V4197I	ENSP00000354117:V4197I	V	-	1	0	TTN	179322783	0.000000	0.05858	0.004000	0.12327	0.836000	0.47400	0.174000	0.16743	-0.115000	0.11915	0.655000	0.94253	GTC		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	83	0	0	0	1	0	3	83				
MCC	4163	broad.mit.edu	37	5	112363128	112363128	+	Silent	SNP	C	C	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr5:112363128C>T	ENST00000302475.4	-	17	2924	c.2361G>A	c.(2359-2361)ctG>ctA	p.L787L	MCC_ENST00000408903.3_Silent_p.L977L|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Silent_p.L724L	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	787					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CTAACTTCTTCAGTTTGTTTT	0.448																																						ENST00000302475.4																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(2359-2361)ctG>ctA		mutated in colorectal cancers							243.0	206.0	219.0					5																	112363128		2202	4300	6502	SO:0001819	synonymous_variant	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112363128C>T		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.2361G>A	5.37:g.112363128C>T						MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Silent_p.L724L|MCC_ENST00000408903.3_Silent_p.L977L	p.L787L	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	17	2924	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	787					D3DT05|Q6ZR04	Silent	SNP	ENST00000302475.4	37	c.2361G>A	CCDS4111.1																																																																																				0.448	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		4	235	0	0	0	1	0	4	235				
BPIFC	254240	broad.mit.edu	37	22	32833840	32833840	+	Splice_Site	SNP	T	T	A			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr22:32833840T>A	ENST00000397452.1	-	8	766		c.e8-2		BPIFC_ENST00000300399.3_Splice_Site|BPIFC_ENST00000534972.1_Splice_Site|BPIFC_ENST00000432451.2_Splice_Site			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C							extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										TGGTTAAAACTAAATAACCAA	0.303																																						ENST00000397452.1																			0											c.e8-2		BPI fold containing family C							62.0	60.0	61.0					22																	32833840		2203	4300	6503	SO:0001630	splice_region_variant	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32833840T>A	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.656-2A>T	22.37:g.32833840T>A						BPIFC_ENST00000432451.2_Splice_Site|BPIFC_ENST00000300399.3_Splice_Site|BPIFC_ENST00000534972.1_Splice_Site				Q8NFQ6	BPIL2_HUMAN			8	766	-								A2RRF1	Splice_Site	SNP	ENST00000397452.1	37		CCDS13906.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.868262	0.72065	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000432451	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5975	0.56478	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	BPIFC	31163840	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	4.171000	0.58236	2.289000	0.77006	0.533000	0.62120	.		0.303	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932	Intron	4	72	0	0	0	1	0	4	72				
TSGA10	80705	broad.mit.edu	37	2	99689497	99689497	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr2:99689497T>C	ENST00000393483.3	-	13	1766	c.922A>G	c.(922-924)Atg>Gtg	p.M308V	TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000542655.1_Intron|TSGA10_ENST00000539964.1_Missense_Mutation_p.M308V|TSGA10_ENST00000410001.1_Missense_Mutation_p.M308V|TSGA10_ENST00000355053.4_Missense_Mutation_p.M308V	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	308					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						GCCTGTTCCATCTCAGCAATG	0.338																																						ENST00000393483.3																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.(922-924)Atg>Gtg		testis specific, 10							158.0	137.0	144.0					2																	99689497		2203	4300	6503	SO:0001583	missense	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99689497T>C	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.922A>G	2.37:g.99689497T>C	ENSP00000377123:p.Met308Val					TSGA10_ENST00000410001.1_Missense_Mutation_p.M308V|TSGA10_ENST00000539964.1_Missense_Mutation_p.M308V|TSGA10_ENST00000542655.1_Intron|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000355053.4_Missense_Mutation_p.M308V	p.M308V	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN			13	1766	-			308					B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	c.922A>G	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.752276	0.31046	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482	T;T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13;1.13	4.94	4.94	0.65067	.	0.082716	0.52532	D	0.000076	T	0.26376	0.0644	N	0.14661	0.345	0.80722	D	1	B	0.15473	0.013	B	0.09377	0.004	T	0.06807	-1.0806	10	0.51188	T	0.08	-12.9886	10.9136	0.47122	0.0:0.0:0.0:1.0	.	308	Q9BZW7	TSG10_HUMAN	V	308	ENSP00000377123:M308V;ENSP00000386956:M308V;ENSP00000347161:M308V;ENSP00000444419:M308V;ENSP00000386508:M308V;ENSP00000377122:M308V	ENSP00000347161:M308V	M	-	1	0	TSGA10	99055929	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.089000	0.41672	2.092000	0.63282	0.477000	0.44152	ATG		0.338	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		4	162	0	0	0	1	0	4	162				
PKD2	5311	broad.mit.edu	37	4	88967931	88967931	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr4:88967931A>T	ENST00000237596.2	+	6	1523	c.1457A>T	c.(1456-1458)tAc>tTc	p.Y486F	PKD2_ENST00000508588.1_Intron	NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|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 ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TTTATCTTTTACTATGTGGTG	0.383																																						ENST00000237596.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36						c.(1456-1458)tAc>tTc		polycystic kidney disease 2 (autosomal dominant)							209.0	193.0	198.0					4																	88967931		2203	4300	6503	SO:0001583	missense	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88967931A>T	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.1457A>T	4.37:g.88967931A>T	ENSP00000237596:p.Tyr486Phe					PKD2_ENST00000508588.1_Intron	p.Y486F	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	6	1523	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	486					Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000237596.2	37	c.1457A>T	CCDS3627.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.486666	0.84854	.	.	ENSG00000118762	ENST00000237596	D	0.96992	-4.2	5.62	5.62	0.85841	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.96219	0.8767	L	0.59967	1.855	0.80722	D	1	B	0.25486	0.127	B	0.40134	0.32	D	0.95130	0.8254	10	0.62326	D	0.03	-20.057	15.8159	0.78599	1.0:0.0:0.0:0.0	.	486	Q13563	PKD2_HUMAN	F	486	ENSP00000237596:Y486F	ENSP00000237596:Y486F	Y	+	2	0	PKD2	89186955	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.296000	0.96104	2.133000	0.65898	0.482000	0.46254	TAC		0.383	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253042.4	NM_000297		7	215	0	0	0	1	0	7	215				
EHHADH	1962	broad.mit.edu	37	3	184966307	184966307	+	Splice_Site	SNP	T	T	A			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr3:184966307T>A	ENST00000231887.3	-	2	150		c.e2-2		EHHADH_ENST00000475987.1_Splice_Site|EHHADH_ENST00000456310.1_Splice_Site|EHHADH_ENST00000440662.1_Splice_Site	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase						fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			AAAGTCGTACTAAAAGAAAAC	0.323																																						ENST00000231887.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24						c.e2-2		enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	NADH(DB00157)						123.0	121.0	121.0					3																	184966307		2203	4300	6503	SO:0001630	splice_region_variant	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184966307T>A	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.75-2A>T	3.37:g.184966307T>A						EHHADH_ENST00000440662.1_Splice_Site|EHHADH_ENST00000456310.1_Splice_Site|EHHADH_ENST00000475987.1_Splice_Site		NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		2	150	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)							A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Splice_Site	SNP	ENST00000231887.3	37		CCDS33901.1	.	.	.	.	.	.	.	.	.	.	T	13.10	2.134984	0.37728	.	.	ENSG00000113790	ENST00000537544;ENST00000231887;ENST00000440662	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7778	0.51995	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	EHHADH	186449001	0.917000	0.31117	0.468000	0.27192	0.004000	0.04260	2.437000	0.44828	2.095000	0.63458	0.523000	0.50628	.		0.323	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1		Intron	4	71	0	0	0	1	0	4	71				
PCNT	5116	broad.mit.edu	37	21	47754527	47754527	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr21:47754527A>G	ENST00000359568.5	+	3	591	c.484A>G	c.(484-486)Agt>Ggt	p.S162G	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	162					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTTCACAGTCAGTGACCACCC	0.552																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(484-486)Agt>Ggt		pericentrin							206.0	129.0	155.0					21																	47754527		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47754527A>G	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.484A>G	21.37:g.47754527A>G	ENSP00000352572:p.Ser162Gly					PCNT_ENST00000480896.1_3'UTR	p.S162G	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			3	591	+	Breast(49;0.112)		162					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.484A>G	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	a	0.030	-1.341863	0.01277	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.01705	4.68	0.235	0.235	0.15431	.	.	.	.	.	T	0.02767	0.0083	L	0.36672	1.1	0.09310	N	1	P;P	0.46395	0.877;0.805	P;P	0.51866	0.682;0.483	T	0.50215	-0.8854	8	0.25751	T	0.34	.	.	.	.	.	44;162	O95613-2;O95613	.;PCNT_HUMAN	G	162;149	ENSP00000352572:S162G	ENSP00000338675:S149G	S	+	1	0	PCNT	46578955	0.036000	0.19791	0.005000	0.12908	0.005000	0.04900	1.077000	0.30741	0.263000	0.21812	0.260000	0.18958	AGT		0.552	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		6	246	0	0	0	1	0	6	246				
ZNF462	58499	broad.mit.edu	37	9	109689490	109689490	+	Silent	SNP	A	A	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr9:109689490A>C	ENST00000277225.5	+	3	3586	c.3297A>C	c.(3295-3297)ccA>ccC	p.P1099P	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Silent_p.P1099P			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1099					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P1099P(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGGGTTCCCCACCCCCCCCAC	0.532																																						ENST00000277225.5																			1	Substitution - coding silent(1)	p.P1099P(1)	kidney(1)	NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(3295-3297)ccA>ccC		zinc finger protein 462																																				SO:0001819	synonymous_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109689490A>C	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.3297A>C	9.37:g.109689490A>C						ZNF462_ENST00000457913.1_Silent_p.P1099P	p.P1099P			Q96JM2	ZN462_HUMAN			3	3586	+			1099					Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	c.3297A>C	CCDS35096.1																																																																																				0.532	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		4	57	0	0	0	1	0	4	57				
CCDC58	131076	broad.mit.edu	37	3	122087171	122087171	+	Splice_Site	SNP	T	T	A			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr3:122087171T>A	ENST00000291458.5	-	3	184		c.e3-2		CCDC58_ENST00000466854.1_5'Flank|CCDC58_ENST00000479899.1_Splice_Site|CCDC58_ENST00000497726.1_Intron	NM_001017928.2	NP_001017928.1	Q4VC31	CCD58_HUMAN	coiled-coil domain containing 58							mitochondrion (GO:0005739)				large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(114;0.148)		TGCCATCAACTAAAAGAACAA	0.328																																						ENST00000291458.5																			0				large_intestine(1)|lung(1)	2						c.e3-2		coiled-coil domain containing 58							32.0	32.0	32.0					3																	122087171		2195	4294	6489	SO:0001630	splice_region_variant	131076							g.chr3:122087171T>A	AK090592	CCDS33838.1	3q21.1	2006-01-17			ENSG00000160124	ENSG00000160124			31136	protein-coding gene	gene with protein product							Standard	XM_005247108		Approved	FLJ33273	uc003eey.3	Q4VC31	OTTHUMG00000159490	ENST00000291458.5:c.178-2A>T	3.37:g.122087171T>A						CCDC58_ENST00000497726.1_Intron|CCDC58_ENST00000479899.1_Splice_Site		NM_001017928.2	NP_001017928.1	Q4VC31	CCD58_HUMAN		GBM - Glioblastoma multiforme(114;0.148)	3	184	-								Q32LY6	Splice_Site	SNP	ENST00000291458.5	37		CCDS33838.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.114675	0.37339	.	.	ENSG00000160124	ENST00000291458;ENST00000479899;ENST00000479414	.	.	.	5.32	2.96	0.34315	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7687	0.34719	0.0:0.1671:0.0:0.8329	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC58	123569861	1.000000	0.71417	0.997000	0.53966	0.815000	0.46073	7.068000	0.76748	0.135000	0.18707	-1.162000	0.01777	.		0.328	CCDC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355754.1	NM_001017928	Intron	5	73	0	0	0	1	0	5	73				
HS3ST2	9956	broad.mit.edu	37	16	22826356	22826356	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr16:22826356C>T	ENST00000261374.3	+	1	859	c.425C>T	c.(424-426)gCc>gTc	p.A142V		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	142					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GACGTGCGGGCCTTGGGCACG	0.647																																						ENST00000261374.3																			0				breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19						c.(424-426)gCc>gTc		heparan sulfate (glucosamine) 3-O-sulfotransferase 2							19.0	24.0	22.0					16																	22826356		2163	4254	6417	SO:0001583	missense	9956					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	g.chr16:22826356C>T	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.425C>T	16.37:g.22826356C>T	ENSP00000261374:p.Ala142Val						p.A142V	NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN		GBM - Glioblastoma multiforme(48;0.0299)	1	859	+			142					Q52LZ1	Missense_Mutation	SNP	ENST00000261374.3	37	c.425C>T	CCDS10606.1	.	.	.	.	.	.	.	.	.	.	C	34	5.322799	0.95708	.	.	ENSG00000122254	ENST00000261374;ENST00000540146	D	0.83419	-1.72	5.12	5.12	0.69794	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.89887	0.6845	M	0.67517	2.055	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.90118	0.4197	10	0.51188	T	0.08	.	17.1279	0.86719	0.0:1.0:0.0:0.0	.	142	Q9Y278	HS3S2_HUMAN	V	142;150	ENSP00000261374:A142V	ENSP00000261374:A142V	A	+	2	0	HS3ST2	22733857	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.308000	0.78929	2.363000	0.80096	0.655000	0.94253	GCC		0.647	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		14	24	0	0	0	1	0	14	24				
NMRK1	54981	broad.mit.edu	37	9	77684818	77684818	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr9:77684818T>A	ENST00000361092.4	-	5	546	c.310A>T	c.(310-312)Aat>Tat	p.N104Y	NMRK1_ENST00000482537.1_5'Flank|NMRK1_ENST00000376811.1_Missense_Mutation_p.N108Y|NMRK1_ENST00000376808.4_Missense_Mutation_p.N104Y	NM_017881.2	NP_060351.1	Q9NWW6	NRK1_HUMAN	nicotinamide riboside kinase 1	104					NAD biosynthetic process (GO:0009435)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)										TACTTATAATTAAAAAGAAGA	0.408																																						ENST00000376811.1																			0											c.(322-324)Aat>Tat		nicotinamide riboside kinase 1							80.0	85.0	83.0					9																	77684818		2203	4300	6503	SO:0001583	missense	54981				pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|ribosylnicotinamide kinase activity	g.chr9:77684818T>A	AK097144	CCDS6650.1, CCDS47981.1	9q21.31	2012-03-30	2012-03-30	2012-03-30	ENSG00000106733	ENSG00000106733			26057	protein-coding gene	gene with protein product		608704	"""chromosome 9 open reading frame 95"""	C9orf95		15137942	Standard	NM_017881		Approved	FLJ20559, NRK1, bA235O14.2	uc004ajr.4	Q9NWW6	OTTHUMG00000020034	ENST00000361092.4:c.310A>T	9.37:g.77684818T>A	ENSP00000354387:p.Asn104Tyr					NMRK1_ENST00000376808.4_Missense_Mutation_p.N104Y|NMRK1_ENST00000361092.4_Missense_Mutation_p.N104Y	p.N108Y			Q9NWW6	NRK1_HUMAN			6	784	-			104					Q5W124|Q8N430	Missense_Mutation	SNP	ENST00000361092.4	37	c.322A>T	CCDS6650.1	.	.	.	.	.	.	.	.	.	.	T	18.47	3.631644	0.67015	.	.	ENSG00000106733	ENST00000376811;ENST00000376794;ENST00000361092;ENST00000376808	T;T;T	0.46819	1.29;1.29;0.86	5.86	4.71	0.59529	.	0.049741	0.85682	D	0.000000	T	0.58235	0.2108	M	0.64260	1.97	0.53688	D	0.999972	D;D;D	0.76494	0.989;0.999;0.986	P;D;D	0.71184	0.871;0.96;0.972	T	0.59637	-0.7417	10	0.06099	T	0.92	-14.0754	11.748	0.51832	0.0:0.0:0.2804:0.7196	.	104;108;104	Q9NWW6-2;Q5W125;Q9NWW6	.;.;NRK1_HUMAN	Y	108;108;104;104	ENSP00000366007:N108Y;ENSP00000354387:N104Y;ENSP00000366004:N104Y	ENSP00000354387:N104Y	N	-	1	0	C9orf95	76874638	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	4.530000	0.60595	1.028000	0.39785	0.482000	0.46254	AAT		0.408	NMRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052705.1	NM_017881		4	114	0	0	0	1	0	4	114				
TCHHL1	126637	broad.mit.edu	37	1	152058043	152058043	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr1:152058043A>T	ENST00000368806.1	-	3	2179	c.2115T>A	c.(2113-2115)agT>agA	p.S705R		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	705							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTTCTTTGCTACTTGGGCCTT	0.458																																						ENST00000368806.1																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60						c.(2113-2115)agT>agA		trichohyalin-like 1							182.0	183.0	183.0					1																	152058043		2203	4300	6503	SO:0001583	missense	126637						calcium ion binding	g.chr1:152058043A>T		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.2115T>A	1.37:g.152058043A>T	ENSP00000357796:p.Ser705Arg						p.S705R	NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	2179	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		705					B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	c.2115T>A	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	10.04	1.241291	0.22711	.	.	ENSG00000182898	ENST00000368806	T	0.25414	1.8	4.76	-7.03	0.01584	.	0.775494	0.10871	N	0.624973	T	0.04679	0.0127	L	0.50333	1.59	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.37911	-0.9685	10	0.21540	T	0.41	2.375	1.3434	0.02159	0.1736:0.3804:0.1902:0.2558	.	705	Q5QJ38	TCHL1_HUMAN	R	705	ENSP00000357796:S705R	ENSP00000357796:S705R	S	-	3	2	TCHHL1	150324667	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.092000	0.03366	-0.798000	0.04444	-0.274000	0.10170	AGT		0.458	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		6	394	0	0	0	1	0	6	394				
NPL	80896	broad.mit.edu	37	1	182794914	182794914	+	Splice_Site	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr1:182794914A>T	ENST00000367553.1	+	11	782		c.e11-1		NPL_ENST00000463899.1_Splice_Site|NPL_ENST00000367555.1_Splice_Site|NPL_ENST00000367554.3_Splice_Site|NPL_ENST00000258317.2_Splice_Site|NPL_ENST00000367552.2_Splice_Site	NM_001200056.1|NM_030769.2	NP_001186985.1|NP_110396.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)						carbohydrate metabolic process (GO:0005975)|N-acetylneuraminate catabolic process (GO:0019262)	cytoplasm (GO:0005737)	N-acetylneuraminate lyase activity (GO:0008747)			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						GTTCTTTTCTAGTTTTGTATC	0.338																																						ENST00000367554.3																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						c.e10-1		N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)							132.0	142.0	138.0					1																	182794914		2203	4300	6503	SO:0001630	splice_region_variant	80896				carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity	g.chr1:182794914A>T	AF338436	CCDS1350.1, CCDS55666.1, CCDS55667.1, CCDS72990.1	1q25	2010-11-25	2003-09-16	2003-09-17	ENSG00000135838	ENSG00000135838	4.1.3.3		16781	protein-coding gene	gene with protein product	"""dihydrodipicolinate synthetase homolog 1 (E. coli)"""	611412	"""chromosome 1 open reading frame 13"""	C1orf13		11318611	Standard	NM_001200056		Approved	NPL1, DHDPS1	uc009wyb.3	Q9BXD5	OTTHUMG00000035321	ENST00000367553.1:c.739-1A>T	1.37:g.182794914A>T						NPL_ENST00000367555.1_Splice_Site|NPL_ENST00000367552.2_Splice_Site|NPL_ENST00000258317.2_Splice_Site|NPL_ENST00000463899.1_Splice_Site|NPL_ENST00000367553.1_Splice_Site		NM_001200050.1	NP_001186979.1	Q9BXD5	NPL_HUMAN			10	999	+								B2R839|Q4G0Q8|Q4G0Z2|Q64L88|Q6PEL0	Splice_Site	SNP	ENST00000367553.1	37		CCDS1350.1	.	.	.	.	.	.	.	.	.	.	A	18.89	3.719870	0.68844	.	.	ENSG00000135838	ENST00000367555;ENST00000445965;ENST00000367554;ENST00000367553;ENST00000367552;ENST00000258317	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0794	0.64912	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NPL	181061537	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	5.342000	0.65970	2.148000	0.66965	0.460000	0.39030	.		0.338	NPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085463.1	NM_030769	Intron	6	203	0	0	0	1	0	6	203				
KIAA1324L	222223	broad.mit.edu	37	7	86548534	86548534	+	Splice_Site	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr7:86548534A>T	ENST00000450689.2	-	11	1676		c.e11+1		KIAA1324L_ENST00000297222.6_Splice_Site|KIAA1324L_ENST00000490995.1_Splice_Site|KIAA1324L_ENST00000444627.1_Splice_Site|KIAA1324L_ENST00000416314.1_Splice_Site	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like							integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TGTTTTCCTTACTTAAATCCT	0.383																																						ENST00000450689.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.e11+1		KIAA1324-like							59.0	59.0	59.0					7																	86548534		2203	4300	6503	SO:0001630	splice_region_variant	222223					integral to membrane		g.chr7:86548534A>T	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.1490+1T>A	7.37:g.86548534A>T						KIAA1324L_ENST00000444627.1_Splice_Site|KIAA1324L_ENST00000416314.1_Splice_Site|KIAA1324L_ENST00000490995.1_Splice_Site|KIAA1324L_ENST00000297222.6_Splice_Site		NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN			11	1676	-	Esophageal squamous(14;0.0058)							A4D1C9|B4DJV3|Q17RI6|Q96DP2	Splice_Site	SNP	ENST00000450689.2	37		CCDS47632.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.652783	0.88056	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314;ENST00000423294	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8241	0.78683	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1324L	86386470	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.273000	0.95719	2.330000	0.79161	0.533000	0.62120	.		0.383	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748	Intron	4	92	0	0	0	1	0	4	92				
NPAS3	64067	broad.mit.edu	37	14	33836390	33836390	+	Splice_Site	SNP	A	A	T	rs202236525		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr14:33836390A>T	ENST00000356141.4	+	4	385		c.e4-1		NPAS3_ENST00000341321.4_Splice_Site|NPAS3_ENST00000551008.1_Splice_Site|NPAS3_ENST00000551492.1_Intron|NPAS3_ENST00000357798.5_Splice_Site|NPAS3_ENST00000346562.2_Intron|NPAS3_ENST00000548645.1_Splice_Site|NPAS3_ENST00000547068.1_Intron			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3						locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TTTTCTTTTAAGTTATAGGTG	0.368																																						ENST00000548645.1																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.e3-1		neuronal PAS domain protein 3							40.0	40.0	40.0					14																	33836390		2203	4300	6503	SO:0001630	splice_region_variant	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:33836390A>T	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.386-1A>T	14.37:g.33836390A>T						NPAS3_ENST00000356141.4_Splice_Site|NPAS3_ENST00000547068.1_Intron|NPAS3_ENST00000346562.2_Intron|NPAS3_ENST00000341321.4_Splice_Site|NPAS3_ENST00000551008.1_Splice_Site|NPAS3_ENST00000551492.1_Intron|NPAS3_ENST00000357798.5_Splice_Site				Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	3	340	+	Breast(36;0.0102)|Hepatocellular(127;0.133)							Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Splice_Site	SNP	ENST00000356141.4	37		CCDS53891.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.008521	0.75046	.	.	ENSG00000151322	ENST00000551634;ENST00000341321;ENST00000548645;ENST00000356141;ENST00000357798;ENST00000551008;ENST00000546849	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6625	0.77199	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NPAS3	32906141	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.499000	0.81566	2.107000	0.64212	0.533000	0.62120	.		0.368	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1		Intron	4	35	0	0	0	1	0	4	35				
RSBN1	54665	broad.mit.edu	37	1	114340601	114340601	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr1:114340601A>T	ENST00000261441.5	-	2	824	c.761T>A	c.(760-762)aTa>aAa	p.I254K		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	254	Poly-Lys.					nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTCTTCTTTATTTTCTTCAA	0.403																																						ENST00000261441.5																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29						c.(760-762)aTa>aAa		round spermatid basic protein 1							105.0	108.0	107.0					1																	114340601		2200	4297	6497	SO:0001583	missense	54665					nucleus		g.chr1:114340601A>T	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.761T>A	1.37:g.114340601A>T	ENSP00000261441:p.Ile254Lys						p.I254K	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	824	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	254			Poly-Lys.		A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	ENST00000261441.5	37	c.761T>A	CCDS862.1	.	.	.	.	.	.	.	.	.	.	A	18.62	3.663224	0.67700	.	.	ENSG00000081019	ENST00000261441	.	.	.	6.17	6.17	0.99709	.	0.057047	0.64402	D	0.000001	T	0.61098	0.2320	L	0.44542	1.39	0.80722	D	1	D	0.69078	0.997	P	0.62184	0.899	T	0.65030	-0.6267	9	0.66056	D	0.02	-13.2095	16.8222	0.85835	1.0:0.0:0.0:0.0	.	254	Q5VWQ0	RSBN1_HUMAN	K	254	.	ENSP00000261441:I254K	I	-	2	0	RSBN1	114142124	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.729000	0.84864	2.371000	0.80710	0.533000	0.62120	ATA		0.403	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		7	332	0	0	0	1	0	7	332				
ELOVL5	60481	broad.mit.edu	37	6	53141056	53141056	+	Splice_Site	SNP	T	T	A			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr6:53141056T>A	ENST00000542638.1	-	4	694		c.e4-2		MIR5685_ENST00000579080.1_RNA|ELOVL5_ENST00000370918.4_Splice_Site|ELOVL5_ENST00000486973.1_Splice_Site|ELOVL5_ENST00000304434.6_Splice_Site|ELOVL5_ENST00000541407.1_Splice_Site			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5						alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					TGTTACTAACTAAAAAAGAAG	0.413																																						ENST00000542638.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.e4-2		ELOVL fatty acid elongase 5							76.0	68.0	71.0					6																	53141056		2203	4300	6503	SO:0001630	splice_region_variant	60481				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr6:53141056T>A	AF052129	CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1	6p21.1-p12.1	2014-07-30	2011-05-25		ENSG00000012660	ENSG00000012660			21308	protein-coding gene	gene with protein product		611805	"""ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"", ""spinocerebellar ataxia 38"""	SCA38		10970790, 25065913	Standard	NM_021814		Approved	HELO1, dJ483K16.1	uc011dwx.2	Q9NYP7	OTTHUMG00000016249	ENST00000542638.1:c.247-2A>T	6.37:g.53141056T>A						ELOVL5_ENST00000486973.1_Splice_Site|ELOVL5_ENST00000304434.6_Splice_Site|ELOVL5_ENST00000541407.1_Splice_Site|ELOVL5_ENST00000370918.4_Splice_Site				Q9NYP7	ELOV5_HUMAN			4	694	-	Lung NSC(77;0.116)							B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22	Splice_Site	SNP	ENST00000542638.1	37		CCDS4951.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.380292	0.82682	.	.	ENSG00000012660	ENST00000370918;ENST00000304434;ENST00000542638;ENST00000541407	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5655	0.84588	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ELOVL5	53249015	1.000000	0.71417	0.998000	0.56505	0.909000	0.53808	7.342000	0.79310	2.302000	0.77476	0.533000	0.62120	.		0.413	ELOVL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043566.1	NM_021814	Intron	5	78	0	0	0	1	0	5	78				
ZBTB39	9880	broad.mit.edu	37	12	57398156	57398156	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr12:57398156A>T	ENST00000300101.2	-	2	631	c.546T>A	c.(544-546)taT>taA	p.Y182*		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	182					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)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						CTTCCTCTTTATAGCTCCCTC	0.562																																						ENST00000300101.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						c.(544-546)taT>taA		zinc finger and BTB domain containing 39							145.0	142.0	143.0					12																	57398156		2203	4300	6503	SO:0001587	stop_gained	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57398156A>T	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.546T>A	12.37:g.57398156A>T	ENSP00000300101:p.Tyr182*						p.Y182*	NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN			2	631	-			182					A7MD38|Q9UD98	Nonsense_Mutation	SNP	ENST00000300101.2	37	c.546T>A	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	A	19.58	3.854021	0.71719	.	.	ENSG00000166860	ENST00000300101	.	.	.	6.07	-3.35	0.04928	.	0.582924	0.16930	N	0.193703	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.2879	12.809	0.57629	0.4731:0.0:0.5269:0.0	.	.	.	.	X	182	.	ENSP00000300101:Y182X	Y	-	3	2	ZBTB39	55684423	0.995000	0.38212	0.922000	0.36590	0.970000	0.65996	0.426000	0.21363	-0.596000	0.05821	-0.250000	0.11733	TAT		0.562	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		6	372	0	0	0	1	0	6	372				
ASRGL1	80150	broad.mit.edu	37	11	62123795	62123795	+	Splice_Site	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr11:62123795A>T	ENST00000415229.2	+	3	405		c.e3-1		ASRGL1_ENST00000301776.5_Splice_Site|ASRGL1_ENST00000535727.1_Intron	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1						asparagine catabolic process via L-aspartate (GO:0033345)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	asparaginase activity (GO:0004067)|beta-aspartyl-peptidase activity (GO:0008798)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	TTTTGGTTTTAGGTTGTGGGT	0.542																																						ENST00000415229.2																			0				endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7						c.e3-1		asparaginase like 1	L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)						189.0	177.0	181.0					11																	62123795		2202	4299	6501	SO:0001630	splice_region_variant	80150				asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr11:62123795A>T		CCDS8019.1	11q12.3	2008-07-18			ENSG00000162174	ENSG00000162174			16448	protein-coding gene	gene with protein product	"""asparaginase-like 1 protein"""	609212					Standard	NM_025080		Approved	FLJ22316, ALP1, ALP	uc001ntf.4	Q7L266	OTTHUMG00000167513	ENST00000415229.2:c.191-1A>T	11.37:g.62123795A>T						ASRGL1_ENST00000301776.5_Splice_Site|ASRGL1_ENST00000535727.1_Intron		NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN			3	405	+								B2R7Q0|Q567Q4|Q6P1P0|Q8NI34|Q9H6F7	Splice_Site	SNP	ENST00000415229.2	37		CCDS8019.1	.	.	.	.	.	.	.	.	.	.	A	18.54	3.645954	0.67358	.	.	ENSG00000162174	ENST00000415229;ENST00000301776	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.108	0.65104	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ASRGL1	61880371	1.000000	0.71417	0.936000	0.37596	0.795000	0.44927	7.345000	0.79337	2.210000	0.71456	0.528000	0.53228	.		0.542	ASRGL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394865.1	NM_001083926	Intron	4	114	0	0	0	1	0	4	114				
MTMR3	8897	broad.mit.edu	37	22	30384486	30384486	+	Missense_Mutation	SNP	A	A	G	rs541335763	byFrequency	TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr22:30384486A>G	ENST00000401950.2	+	6	570	c.228A>G	c.(226-228)atA>atG	p.I76M	MTMR3_ENST00000323630.5_5'UTR|MTMR3_ENST00000351488.3_Missense_Mutation_p.I76M|MTMR3_ENST00000406629.1_Missense_Mutation_p.I76M|MTMR3_ENST00000415511.1_Intron|MTMR3_ENST00000333027.3_Missense_Mutation_p.I76M	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	76					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TACAGCTTATAGAAAGTGTTG	0.358																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(226-228)atA>atG		myotubularin related protein 3							140.0	132.0	134.0					22																	30384486		2202	4300	6502	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30384486A>G	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.228A>G	22.37:g.30384486A>G	ENSP00000384651:p.Ile76Met					MTMR3_ENST00000323630.5_5'UTR|MTMR3_ENST00000406629.1_Missense_Mutation_p.I76M|MTMR3_ENST00000401950.2_Missense_Mutation_p.I76M|MTMR3_ENST00000415511.1_Intron|MTMR3_ENST00000351488.3_Missense_Mutation_p.I76M	p.I76M	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		6	556	+			76					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.228A>G	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	A	16.78	3.216789	0.58452	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000445401;ENST00000351488;ENST00000406629	D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48	5.84	3.65	0.41850	.	0.084898	0.85682	D	0.000000	D	0.88698	0.6507	L	0.48174	1.505	0.80722	D	1	P;P;P	0.51653	0.851;0.947;0.851	P;P;P	0.55615	0.58;0.78;0.58	D	0.86003	0.1496	10	0.56958	D	0.05	.	6.9832	0.24713	0.5173:0.1248:0.0:0.3578	.	76;76;76	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	M	76	ENSP00000384651:I76M;ENSP00000331649:I76M;ENSP00000409063:I76M;ENSP00000307271:I76M;ENSP00000384077:I76M	ENSP00000331649:I76M	I	+	3	3	MTMR3	28714486	0.990000	0.36364	1.000000	0.80357	0.999000	0.98932	0.312000	0.19397	0.414000	0.25790	0.528000	0.53228	ATA		0.358	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		56	69	0	0	0	1	0	56	69				
PCDHB3	56132	broad.mit.edu	37	5	140482593	140482593	+	Missense_Mutation	SNP	C	C	A	rs376214907		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr5:140482593C>A	ENST00000231130.2	+	1	2360	c.2360C>A	c.(2359-2361)cCc>cAc	p.P787H	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	787					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGCAAATCCCAGTTTCAGG	0.453																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(2359-2361)cCc>cAc									108.0	112.0	111.0					5																	140482593		2203	4300	6503	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482593C>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2360C>A	5.37:g.140482593C>A	ENSP00000231130:p.Pro787His						p.P787H	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2360	+			787					B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.2360C>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118179	0.37339	.	.	ENSG00000113205	ENST00000231130	T	0.13778	2.56	3.34	0.258	0.15578	.	.	.	.	.	T	0.19287	0.0463	M	0.87758	2.905	0.09310	N	1	P	0.37158	0.585	B	0.40066	0.318	T	0.26503	-1.0101	9	0.56958	D	0.05	.	1.296	0.02070	0.1566:0.3251:0.3084:0.2098	.	787	Q9Y5E6	PCDB3_HUMAN	H	787	ENSP00000231130:P787H	ENSP00000231130:P787H	P	+	2	0	PCDHB3	140462777	0.001000	0.12720	0.000000	0.03702	0.670000	0.39368	0.808000	0.27154	-0.250000	0.09555	0.491000	0.48974	CCC		0.453	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		7	96	1	0	1.12685e-05	1	1.15975e-05	7	96				
ATP1B4	23439	broad.mit.edu	37	X	119504588	119504588	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chrX:119504588A>T	ENST00000218008.3	+	3	404	c.347A>T	c.(346-348)tAc>tTc	p.Y116F	ATP1B4_ENST00000539306.1_Intron|ATP1B4_ENST00000361319.3_Missense_Mutation_p.Y112F	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	116					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						TTACTCATTTACTTCTTCTTC	0.483																																						ENST00000218008.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(346-348)tAc>tTc		ATPase, Na+/K+ transporting, beta 4 polypeptide							357.0	272.0	301.0					X																	119504588		2203	4300	6503	SO:0001583	missense	23439				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	g.chrX:119504588A>T	AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"""ATPases / P-type"""	808	protein-coding gene	gene with protein product	"""Na,K-ATPase beta m-subunit"""		"""ATPase, (Na+)/K+ transporting, beta 4 polypeptide"""			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.347A>T	X.37:g.119504588A>T	ENSP00000218008:p.Tyr116Phe					ATP1B4_ENST00000361319.3_Missense_Mutation_p.Y112F|ATP1B4_ENST00000539306.1_Intron	p.Y116F	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN			3	404	+			116					Q17RR0|Q9UN41	Missense_Mutation	SNP	ENST00000218008.3	37	c.347A>T	CCDS48158.1	.	.	.	.	.	.	.	.	.	.	A	14.72	2.619953	0.46736	.	.	ENSG00000101892	ENST00000218008;ENST00000361319	T;T	0.52754	0.65;0.65	5.54	5.54	0.83059	.	0.053377	0.85682	N	0.000000	T	0.75824	0.3902	M	0.93420	3.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.997	T	0.82398	-0.0477	10	0.72032	D	0.01	-14.3682	13.3709	0.60713	1.0:0.0:0.0:0.0	.	81;116;112	B7ZKV9;Q9UN42;Q9UN42-2	.;AT1B4_HUMAN;.	F	116;112	ENSP00000218008:Y116F;ENSP00000355346:Y112F	ENSP00000218008:Y116F	Y	+	2	0	ATP1B4	119388616	1.000000	0.71417	1.000000	0.80357	0.076000	0.17211	8.569000	0.90744	1.836000	0.53414	0.345000	0.21793	TAC		0.483	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	NM_001142447		5	207	0	0	0	1	0	5	207				
CCDC181	57821	broad.mit.edu	37	1	169390644	169390644	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr1:169390644A>T	ENST00000367806.3	-	3	1177	c.1025T>A	c.(1024-1026)cTa>cAa	p.L342Q	CCDC181_ENST00000545005.1_Missense_Mutation_p.L342Q|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Missense_Mutation_p.L342Q	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	342						nucleus (GO:0005634)											TTGTTTTTGTAGTTCTTTCTG	0.363																																						ENST00000545005.1																			0											c.(1024-1026)cTa>cAa		coiled-coil domain containing 181							75.0	71.0	72.0					1																	169390644		2203	4300	6503	SO:0001583	missense	57821							g.chr1:169390644A>T	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.1025T>A	1.37:g.169390644A>T	ENSP00000356780:p.Leu342Gln					CCDC181_ENST00000367805.3_Missense_Mutation_p.L342Q|CCDC181_ENST00000367806.3_Missense_Mutation_p.L342Q|CCDC181_ENST00000491570.1_5'UTR	p.L342Q							4	1532	-								O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	ENST00000367806.3	37	c.1025T>A		.	.	.	.	.	.	.	.	.	.	A	14.71	2.617264	0.46736	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.34072	1.38;1.38;1.38;1.53	5.17	4.07	0.47477	.	0.152431	0.44097	D	0.000485	T	0.47248	0.1435	M	0.71581	2.175	0.46260	D	0.998952	D;D;D	0.63046	0.992;0.992;0.992	D;P;P	0.67900	0.954;0.868;0.868	T	0.56025	-0.8047	9	0.87932	D	0	-6.5351	12.9548	0.58421	0.8337:0.1663:0.0:0.0	.	342;342;342	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	Q	342	ENSP00000356779:L342Q;ENSP00000356780:L342Q;ENSP00000442297:L342Q;ENSP00000411000:L342Q	ENSP00000356779:L342Q	L	-	2	0	C1orf114	167657268	0.999000	0.42202	0.998000	0.56505	0.387000	0.30353	3.781000	0.55394	1.947000	0.56498	0.374000	0.22700	CTA		0.363	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		4	185	0	0	0	1	0	4	185				
FAP	2191	broad.mit.edu	37	2	163044875	163044875	+	Splice_Site	SNP	T	T	A			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr2:163044875T>A	ENST00000188790.4	-	20	1827		c.e20-2		FAP_ENST00000443424.1_Splice_Site	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha									p.?(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CCACCATACCTAAAGGAAAAA	0.383																																						ENST00000188790.4																			1	Unknown(1)	p.?(1)	ovary(1)	NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						c.e20-2		fibroblast activation protein, alpha							58.0	56.0	57.0					2																	163044875		2203	4299	6502	SO:0001630	splice_region_variant	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163044875T>A	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1620-2A>T	2.37:g.163044875T>A						FAP_ENST00000443424.1_Splice_Site		NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN			20	1827	-									Splice_Site	SNP	ENST00000188790.4	37		CCDS33311.1	.	.	.	.	.	.	.	.	.	.	T	18.52	3.641191	0.67244	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAP	162753121	1.000000	0.71417	0.997000	0.53966	0.922000	0.55478	7.325000	0.79124	2.326000	0.78906	0.533000	0.62120	.		0.383	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2		Intron	5	107	0	0	0	1	0	5	107				
TCF12	6938	broad.mit.edu	37	15	57355946	57355946	+	Splice_Site	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr15:57355946A>T	ENST00000267811.5	+	4	452		c.e4-1		TCF12_ENST00000438423.2_Splice_Site|TCF12_ENST00000333725.5_Splice_Site|TCF12_ENST00000557843.1_Splice_Site|TCF12_ENST00000452095.2_Intron	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12						immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TTCTCTTTTTAGGTATTGATG	0.363			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000267811.5				Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.e4-1		transcription factor 12							118.0	121.0	120.0					15																	57355946		2192	4292	6484	SO:0001630	splice_region_variant	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57355946A>T	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.149-1A>T	15.37:g.57355946A>T						TCF12_ENST00000333725.5_Splice_Site|TCF12_ENST00000438423.2_Splice_Site|TCF12_ENST00000452095.2_Intron|TCF12_ENST00000557843.1_Splice_Site		NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	4	452	+		Colorectal(260;0.0907)						Q7Z3D9|Q86TC1|Q86VM2	Splice_Site	SNP	ENST00000267811.5	37		CCDS10159.1	.	.	.	.	.	.	.	.	.	.	A	15.58	2.877044	0.51801	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000333725	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9021	0.63812	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TCF12	55143238	1.000000	0.71417	0.991000	0.47740	0.804000	0.45430	5.768000	0.68858	2.213000	0.71641	0.477000	0.44152	.		0.363	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205	Intron	11	201	0	0	0	1	0	11	201				
ANO10	55129	broad.mit.edu	37	3	43642047	43642047	+	Silent	SNP	A	A	G			TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr3:43642047A>G	ENST00000292246.3	-	3	336	c.166T>C	c.(166-168)Tta>Cta	p.L56L	ANO10_ENST00000396091.3_Intron|ANO10_ENST00000350459.4_Silent_p.L56L|ANO10_ENST00000451430.2_Intron|ANO10_ENST00000414522.2_Silent_p.L56L	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	56					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						TATTTATTTAACAATGGTCTA	0.318																																						ENST00000292246.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						c.(166-168)Tta>Cta		anoctamin 10							84.0	83.0	83.0					3																	43642047		2203	4297	6500	SO:0001819	synonymous_variant	55129				cell death	chloride channel complex	chloride channel activity	g.chr3:43642047A>G	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.166T>C	3.37:g.43642047A>G						ANO10_ENST00000451430.2_Intron|ANO10_ENST00000350459.4_Silent_p.L56L|ANO10_ENST00000414522.2_Silent_p.L56L|ANO10_ENST00000396091.3_Intron	p.L56L	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN			3	336	-			56					A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Silent	SNP	ENST00000292246.3	37	c.166T>C	CCDS2710.2																																																																																				0.318	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2	NM_018075		5	186	0	0	0	0.184627	0	5	186				
MT-ND1	4535	broad.mit.edu	37	M	3859	3859	+	Nonstop_Mutation	SNP	T	T	C			TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chrM:3859T>C	ENST00000361390.2	+	1	553	c.553T>C	c.(553-555)Tga>Cga	p.*185R	MT-TM_ENST00000387377.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-CO1_ENST00000361624.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TY_ENST00000387409.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1	185					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGGCCATAATATGATTTATCT	0.478																																						ENST00000361390.2																			0				breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34						c.(553-555)Tga>Cga		mitochondrially encoded NADH dehydrogenase 1																																				SO:0001578	stop_lost	4535							g.chrM:3859T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886		ENST00000361390.2:c.553T>C	M.37:g.3859T>C	Exception_encountered						p.185_185insR							1	553	+								C0JKH6|Q37523	Missense_Mutation	SNP	ENST00000361390.2	37	c.553T>C																																																																																					0.478	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024026		492	18	0	0	0	0.139131	0	492	18				
SOS2	6655	broad.mit.edu	37	14	50626628	50626628	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr14:50626628T>C	ENST00000216373.5	-	10	1647	c.1373A>G	c.(1372-1374)cAt>cGt	p.H458R	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.H425R	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	458	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CAGAAAAATATGCCGTTCATG	0.388																																						ENST00000216373.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39						c.(1372-1374)cAt>cGt		son of sevenless homolog 2 (Drosophila)							185.0	175.0	178.0					14																	50626628		2203	4300	6503	SO:0001583	missense	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50626628T>C	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.1373A>G	14.37:g.50626628T>C	ENSP00000216373:p.His458Arg					SOS2_ENST00000543680.1_Missense_Mutation_p.H425R|SOS2_ENST00000555794.1_5'UTR	p.H458R	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN			10	1647	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		458			PH.		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.1373A>G	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	T	12.99	2.102691	0.37145	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.75367	-0.93;-0.93	5.56	5.56	0.83823	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.70055	0.3180	L	0.54908	1.71	0.80722	D	1	B;B;B	0.24651	0.025;0.108;0.028	B;B;B	0.23852	0.035;0.049;0.037	T	0.65734	-0.6096	10	0.24483	T	0.36	.	15.7129	0.77644	0.0:0.0:0.0:1.0	.	425;488;458	B7ZKT6;Q59G32;Q07890	.;.;SOS2_HUMAN	R	458;425	ENSP00000216373:H458R;ENSP00000445328:H425R	ENSP00000216373:H458R	H	-	2	0	SOS2	49696378	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.964000	0.87933	2.111000	0.64477	0.528000	0.53228	CAT		0.388	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			154	204	0	0	0	0.139131	0	154	204				
PKD1L2	114780	broad.mit.edu	37	16	81190482	81190482	+	RNA	SNP	G	G	A	rs375515044		TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr16:81190482G>A	ENST00000525539.1	-	0	4106				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GATCCTGAGCGTCCTTCCTCC	0.547													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19594	0.0		0.0	False		,,,				2504	0.0					ENST00000525539.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2		G		1,4339		0,1,2169	57.0	59.0	59.0		4107	-5.2	0.2	16		59	0,8538		0,0,4269	no	coding-synonymous	PKD1L2	NM_052892.3		0,1,6438	AA,AG,GG		0.0,0.023,0.0078		1369/2460	81190482	1,12877	2170	4269	6439			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81190482G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81190482G>A						PKD1L2_ENST00000533478.1_RNA		NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN			0	4106	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000525539.1	37																																																																																						0.547	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			30	43	0	0	0	0.153744	0	30	43				
PLA2G6	8398	broad.mit.edu	37	22	38536025	38536025	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr22:38536025T>G	ENST00000332509.3	-	5	944	c.761A>C	c.(760-762)tAc>tCc	p.Y254S	PLA2G6_ENST00000335539.3_Missense_Mutation_p.Y254S|PLA2G6_ENST00000402064.1_Missense_Mutation_p.Y254S	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	254					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)	p.Y254S(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GTGGATGGGGTAGCCGTTGGG	0.642																																						ENST00000332509.3																			1	Substitution - Missense(1)	p.Y254S(1)	kidney(1)	breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(760-762)tAc>tCc		phospholipase A2, group VI (cytosolic, calcium-independent)	Quinacrine(DB01103)						42.0	44.0	43.0					22																	38536025		2203	4300	6503	SO:0001583	missense	8398				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		g.chr22:38536025T>G	AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.761A>C	22.37:g.38536025T>G	ENSP00000333142:p.Tyr254Ser					PLA2G6_ENST00000402064.1_Missense_Mutation_p.Y254S|PLA2G6_ENST00000335539.3_Missense_Mutation_p.Y254S	p.Y254S	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN			5	944	-	Melanoma(58;0.045)		254					A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	c.761A>C	CCDS13967.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.93|17.93	3.510203|3.510203	0.64522|0.64522	.|.	.|.	ENSG00000184381|ENSG00000184381	ENST00000427453;ENST00000452542|ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064;ENST00000335538;ENST00000396860	.|T;T;T	.|0.52754	.|0.65;0.65;0.65	5.69|5.69	2.22|2.22	0.28083|0.28083	.|Ankyrin repeat-containing domain (3);	.|0.238004	.|0.44483	.|D	.|0.000445	T|T	0.25158|0.25158	0.0611|0.0611	N|N	0.13371|0.13371	0.34|0.34	0.80722|0.80722	D|D	1|1	.|P;B	.|0.41188	.|0.741;0.159	.|B;B	.|0.39258	.|0.295;0.13	T|T	0.02588|0.02588	-1.1137|-1.1137	5|10	.|0.22109	.|T	.|0.4	-21.5899|-21.5899	6.4119|6.4119	0.21696|0.21696	0.2508:0.0674:0.0:0.6819|0.2508:0.0674:0.0:0.6819	.|.	.|254;254	.|O60733-2;O60733	.|.;PA2G6_HUMAN	P|S	6;85|254;115;254;254;182;254	.|ENSP00000333142:Y254S;ENSP00000335149:Y254S;ENSP00000386100:Y254S	.|ENSP00000333142:Y254S	T|Y	-|-	1|2	0|0	PLA2G6|PLA2G6	36865971|36865971	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.788000|0.788000	0.44548|0.44548	2.138000|2.138000	0.42140|0.42140	0.402000|0.402000	0.25451|0.25451	0.459000|0.459000	0.35465|0.35465	ACC|TAC		0.642	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426		6	14	0	0	0	0.132662	0	6	14				
LZTS1	11178	broad.mit.edu	37	8	20107349	20107349	+	Missense_Mutation	SNP	G	G	A	rs146878421		TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr8:20107349G>A	ENST00000381569.1	-	4	2032	c.1675C>T	c.(1675-1677)Cgc>Tgc	p.R559C	LZTS1_ENST00000522290.1_Missense_Mutation_p.R500C|LZTS1_ENST00000265801.6_Missense_Mutation_p.R559C			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	559					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|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, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TTCTCCAGGCGCTGGTTCCGC	0.617																																						ENST00000381569.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1675-1677)Cgc>Tgc		leucine zipper, putative tumor suppressor 1			CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	99.0	100.0	99.0		1675	3.0	1.0	8	dbSNP_134	99	0,8600		0,0,4300	no	missense	LZTS1	NM_021020.2	180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	559/597	20107349	2,13004	2203	4300	6503	SO:0001583	missense	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20107349G>A	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1675C>T	8.37:g.20107349G>A	ENSP00000370981:p.Arg559Cys					LZTS1_ENST00000522290.1_Missense_Mutation_p.R500C|LZTS1_ENST00000265801.6_Missense_Mutation_p.R559C	p.R559C			Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	4	2032	-			559					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	c.1675C>T	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	g	18.29	3.590508	0.66219	4.54E-4	0.0	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.45668	0.89;0.89;0.89	5.06	3.04	0.35103	.	0.769309	0.12807	N	0.437503	T	0.28995	0.0720	N	0.12182	0.205	0.39023	D	0.959772	D;B	0.64830	0.994;0.068	P;B	0.49953	0.627;0.012	T	0.09862	-1.0655	10	0.41790	T	0.15	-24.3382	4.2396	0.10642	0.094:0.1261:0.5852:0.1947	.	500;559	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	C	559;559;500;536	ENSP00000370981:R559C;ENSP00000265801:R559C;ENSP00000429263:R500C	ENSP00000265801:R559C	R	-	1	0	LZTS1	20151629	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.447000	0.44917	1.126000	0.42016	0.556000	0.70494	CGC		0.617	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		15	220	0	0	0	0.175082	0	15	220				
MTMR3	8897	broad.mit.edu	37	22	30384486	30384486	+	Missense_Mutation	SNP	A	A	G	rs541335763	byFrequency	TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr22:30384486A>G	ENST00000401950.2	+	6	570	c.228A>G	c.(226-228)atA>atG	p.I76M	MTMR3_ENST00000323630.5_5'UTR|MTMR3_ENST00000351488.3_Missense_Mutation_p.I76M|MTMR3_ENST00000406629.1_Missense_Mutation_p.I76M|MTMR3_ENST00000415511.1_Intron|MTMR3_ENST00000333027.3_Missense_Mutation_p.I76M	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	76					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TACAGCTTATAGAAAGTGTTG	0.358																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(226-228)atA>atG		myotubularin related protein 3							140.0	132.0	134.0					22																	30384486		2202	4300	6502	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30384486A>G	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.228A>G	22.37:g.30384486A>G	ENSP00000384651:p.Ile76Met					MTMR3_ENST00000323630.5_5'UTR|MTMR3_ENST00000406629.1_Missense_Mutation_p.I76M|MTMR3_ENST00000415511.1_Intron|MTMR3_ENST00000401950.2_Missense_Mutation_p.I76M|MTMR3_ENST00000351488.3_Missense_Mutation_p.I76M	p.I76M	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		6	556	+			76					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.228A>G	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	A	16.78	3.216789	0.58452	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000445401;ENST00000351488;ENST00000406629	D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48	5.84	3.65	0.41850	.	0.084898	0.85682	D	0.000000	D	0.88698	0.6507	L	0.48174	1.505	0.80722	D	1	P;P;P	0.51653	0.851;0.947;0.851	P;P;P	0.55615	0.58;0.78;0.58	D	0.86003	0.1496	10	0.56958	D	0.05	.	6.9832	0.24713	0.5173:0.1248:0.0:0.3578	.	76;76;76	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	M	76	ENSP00000384651:I76M;ENSP00000331649:I76M;ENSP00000409063:I76M;ENSP00000307271:I76M;ENSP00000384077:I76M	ENSP00000331649:I76M	I	+	3	3	MTMR3	28714486	0.990000	0.36364	1.000000	0.80357	0.999000	0.98932	0.312000	0.19397	0.414000	0.25790	0.528000	0.53228	ATA		0.358	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		66	93	0	0	0	0.139131	0	66	93				
DNM1P47	100216544	broad.mit.edu	37	15	102304869	102304869	+	RNA	SNP	T	T	C	rs202067427		TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr15:102304869T>C	ENST00000561463.1	+	0	12915									DNM1 pseudogene 47																		GTCCAACCTGTACTCGCGTGG	0.572																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102304869T>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304869T>C														0	12915	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.572	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	19	0	0	0	0.115264	0	3	19				
BMP10	27302	broad.mit.edu	37	2	69093688	69093688	+	Missense_Mutation	SNP	G	G	A	rs141935259		TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr2:69093688G>A	ENST00000295379.1	-	2	508	c.350C>T	c.(349-351)cCg>cTg	p.P117L		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	117					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)	p.P117L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						AAAACTGACCGGCTGGGAAAA	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		20428	0.001		0.0	False		,,,				2504	0.0					ENST00000295379.1																			1	Substitution - Missense(1)	p.P117L(1)	endometrium(1)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						c.(349-351)cCg>cTg		bone morphogenetic protein 10		G	LEU/PRO	1,4401		0,1,2200	28.0	30.0	29.0		350	5.9	1.0	2	dbSNP_134	29	0,8592		0,0,4296	yes	missense	BMP10	NM_014482.1	98	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	benign	117/425	69093688	1,12993	2201	4296	6497	SO:0001583	missense	27302				activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding	g.chr2:69093688G>A	AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.350C>T	2.37:g.69093688G>A	ENSP00000295379:p.Pro117Leu						p.P117L	NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN			2	508	-			117					Q53R17|Q6NTE0	Missense_Mutation	SNP	ENST00000295379.1	37	c.350C>T	CCDS1890.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.49	1.653907	0.29425	2.27E-4	0.0	ENSG00000163217	ENST00000295379	T	0.73363	-0.74	5.94	5.94	0.96194	Transforming growth factor-beta, N-terminal (1);	0.254934	0.42682	D	0.000674	T	0.69142	0.3078	L	0.50333	1.59	0.48452	D	0.999655	B	0.28026	0.198	B	0.28784	0.094	T	0.64732	-0.6338	10	0.07990	T	0.79	.	19.3434	0.94355	0.0:0.0:1.0:0.0	.	117	O95393	BMP10_HUMAN	L	117	ENSP00000295379:P117L	ENSP00000295379:P117L	P	-	2	0	BMP10	68947192	0.993000	0.37304	0.994000	0.49952	0.632000	0.37999	2.843000	0.48238	2.812000	0.96745	0.557000	0.71058	CCG		0.428	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251768.1	NM_014482		32	33	0	0	0	0.153744	0	32	33				
HS3ST2	9956	broad.mit.edu	37	16	22826356	22826356	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr16:22826356C>T	ENST00000261374.3	+	1	859	c.425C>T	c.(424-426)gCc>gTc	p.A142V		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	142					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GACGTGCGGGCCTTGGGCACG	0.647																																						ENST00000261374.3																			0				breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19						c.(424-426)gCc>gTc		heparan sulfate (glucosamine) 3-O-sulfotransferase 2							19.0	24.0	22.0					16																	22826356		2163	4254	6417	SO:0001583	missense	9956					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	g.chr16:22826356C>T	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.425C>T	16.37:g.22826356C>T	ENSP00000261374:p.Ala142Val						p.A142V	NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN		GBM - Glioblastoma multiforme(48;0.0299)	1	859	+			142					Q52LZ1	Missense_Mutation	SNP	ENST00000261374.3	37	c.425C>T	CCDS10606.1	.	.	.	.	.	.	.	.	.	.	C	34	5.322799	0.95708	.	.	ENSG00000122254	ENST00000261374;ENST00000540146	D	0.83419	-1.72	5.12	5.12	0.69794	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.89887	0.6845	M	0.67517	2.055	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.90118	0.4197	10	0.51188	T	0.08	.	17.1279	0.86719	0.0:1.0:0.0:0.0	.	142	Q9Y278	HS3S2_HUMAN	V	142;150	ENSP00000261374:A142V	ENSP00000261374:A142V	A	+	2	0	HS3ST2	22733857	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.308000	0.78929	2.363000	0.80096	0.655000	0.94253	GCC		0.647	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		22	35	0	0	0	0.076483	0	22	35				
GPS1	2873	broad.mit.edu	37	17	80014617	80014617	+	Missense_Mutation	SNP	G	G	A	rs371322935		TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr17:80014617G>A	ENST00000306823.6	+	11	1264	c.1241G>A	c.(1240-1242)aGt>aAt	p.S414N	GPS1_ENST00000320548.4_Missense_Mutation_p.S394N|GPS1_ENST00000355130.2_Missense_Mutation_p.S450N|GPS1_ENST00000578552.1_Missense_Mutation_p.S410N|GPS1_ENST00000392358.2_Missense_Mutation_p.S450N			Q13098	CSN1_HUMAN	G protein pathway suppressor 1	414	PCI.				cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GGGCTGATCAGTGCCCGTGTG	0.657																																						ENST00000392358.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13						c.(1348-1350)aGt>aAt		G protein pathway suppressor 1		G	ASN/SER,ASN/SER	1,4387		0,1,2193	23.0	23.0	23.0		1349,1241	3.0	1.0	17		23	0,8598		0,0,4299	no	missense,missense	GPS1	NM_212492.1,NM_004127.4	46,46	0,1,6492	AA,AG,GG		0.0,0.0228,0.0077	benign,benign	450/528,414/492	80014617	1,12985	2194	4299	6493	SO:0001583	missense	2873				cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding	g.chr17:80014617G>A		CCDS11800.1, CCDS32774.1	17q25.3	2013-03-14				ENSG00000169727			4549	protein-coding gene	gene with protein product	"""COP9 signalosome subunit 1"""	601934				9535219	Standard	NM_212492		Approved	COPS1, CSN1	uc002kdl.1	Q13098		ENST00000306823.6:c.1241G>A	17.37:g.80014617G>A	ENSP00000302873:p.Ser414Asn					GPS1_ENST00000578552.1_Missense_Mutation_p.S410N|GPS1_ENST00000306823.6_Missense_Mutation_p.S414N|GPS1_ENST00000320548.4_Missense_Mutation_p.S394N|GPS1_ENST00000355130.2_Missense_Mutation_p.S450N	p.S450N	NM_212492.1	NP_997657.1	Q13098	CSN1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		11	1698	+	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		414					Q8NA10|Q9BWL1	Missense_Mutation	SNP	ENST00000306823.6	37	c.1349G>A	CCDS32774.1	.	.	.	.	.	.	.	.	.	.	g	5.159	0.214954	0.09810	2.28E-4	0.0	ENSG00000169727	ENST00000392358;ENST00000320548;ENST00000306823;ENST00000355130	T;T;T	0.29397	1.57;1.57;1.57	4.09	3.01	0.34805	Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (2);	0.050099	0.85682	N	0.000000	T	0.14917	0.0360	N	0.12637	0.245	0.26831	N	0.96858	B;B;B;B;B;B	0.13145	0.0;0.001;0.007;0.0;0.0;0.001	B;B;B;B;B;B	0.14578	0.003;0.002;0.011;0.003;0.002;0.001	T	0.24119	-1.0169	10	0.17369	T	0.5	-20.7986	8.7285	0.34485	0.906:0.0:0.094:0.0	.	406;449;399;410;414;450	B4DND6;A8K070;Q13098-6;Q13098-5;Q13098;Q13098-7	.;.;.;.;CSN1_HUMAN;.	N	450;400;414;450	ENSP00000376167:S450N;ENSP00000302873:S414N;ENSP00000347251:S450N	ENSP00000302873:S414N	S	+	2	0	GPS1	77607906	1.000000	0.71417	0.995000	0.50966	0.079000	0.17450	5.619000	0.67729	0.643000	0.30638	-0.389000	0.06534	AGT		0.657	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442176.1	NM_212492		4	30	0	0	0	0.150653	0	4	30				
SPEG	10290	broad.mit.edu	37	2	220307861	220307861	+	Intron	SNP	G	G	A			TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr2:220307861G>A	ENST00000312358.7	+	2	520				SPEG_ENST00000396698.1_Missense_Mutation_p.R22Q|SPEG_ENST00000396695.2_5'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus						cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCCTTTGGCCGACTCACCCAT	0.587																																						ENST00000396698.1																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(64-66)cGa>cAa		SPEG complex locus							227.0	217.0	220.0					2																	220307861		876	1991	2867	SO:0001627	intron_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220307861G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.389-1514G>A	2.37:g.220307861G>A						SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000312358.7_Intron	p.R22Q			Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	2	71	+		Renal(207;0.0183)	0					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.65G>A	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378703	0.61735	.	.	ENSG00000072195	ENST00000431523;ENST00000396698	T;T	0.59083	0.8;0.29	4.01	4.01	0.46588	.	.	.	.	.	T	0.69940	0.3167	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74343	-0.3696	6	0.59425	D	0.04	.	14.6899	0.69076	0.0:0.0:1.0:0.0	.	.	.	.	Q	22	ENSP00000410986:R22Q;ENSP00000379926:R22Q	ENSP00000379926:R22Q	R	+	2	0	SPEG	220016105	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.066000	0.89486	1.769000	0.52152	0.313000	0.20887	CGA		0.587	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		147	248	0	0	0	0.139131	0	147	248				
CHRM4	1132	broad.mit.edu	37	11	46407118	46407118	+	Silent	SNP	C	C	T	rs201888287		TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr11:46407118C>T	ENST00000433765.2	-	1	989	c.990G>A	c.(988-990)ccG>ccA	p.P330P		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	330					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TGAGGGCCCGCGGCTGCAGGG	0.637																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)	ENST00000433765.2																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20						c.(988-990)ccG>ccA		cholinergic receptor, muscarinic 4	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)			1,4179		0,1,2089	127.0	145.0	139.0		990	-5.1	0.6	11		139	1,8407		0,1,4203	no	coding-synonymous	CHRM4	NM_000741.2		0,2,6292	TT,TC,CC		0.0119,0.0239,0.0159		330/480	46407118	2,12586	2090	4204	6294	SO:0001819	synonymous_variant	1132				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	g.chr11:46407118C>T	M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1953	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 4"""	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.990G>A	11.37:g.46407118C>T							p.P330P	NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	1	989	-			330					B2RPP4|Q0VD60|Q4VBK7	Silent	SNP	ENST00000433765.2	37	c.990G>A	CCDS44581.1																																																																																				0.637	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	NM_000741		11	313	0	0	0	0.080935	0	11	313				
PCDHB3	56132	broad.mit.edu	37	5	140482593	140482593	+	Missense_Mutation	SNP	C	C	A	rs376214907		TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr5:140482593C>A	ENST00000231130.2	+	1	2360	c.2360C>A	c.(2359-2361)cCc>cAc	p.P787H	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	787					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGCAAATCCCAGTTTCAGG	0.453																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(2359-2361)cCc>cAc									108.0	112.0	111.0					5																	140482593		2203	4300	6503	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482593C>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2360C>A	5.37:g.140482593C>A	ENSP00000231130:p.Pro787His						p.P787H	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2360	+			787					B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.2360C>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118179	0.37339	.	.	ENSG00000113205	ENST00000231130	T	0.13778	2.56	3.34	0.258	0.15578	.	.	.	.	.	T	0.19287	0.0463	M	0.87758	2.905	0.09310	N	1	P	0.37158	0.585	B	0.40066	0.318	T	0.26503	-1.0101	9	0.56958	D	0.05	.	1.296	0.02070	0.1566:0.3251:0.3084:0.2098	.	787	Q9Y5E6	PCDB3_HUMAN	H	787	ENSP00000231130:P787H	ENSP00000231130:P787H	P	+	2	0	PCDHB3	140462777	0.001000	0.12720	0.000000	0.03702	0.670000	0.39368	0.808000	0.27154	-0.250000	0.09555	0.491000	0.48974	CCC		0.453	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		14	196	1	0	2.23348e-06	0.146539	3.19069e-06	14	196				
N4BP2	55728	broad.mit.edu	37	4	40123308	40123308	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr4:40123308A>T	ENST00000261435.6	+	9	3993	c.3577A>T	c.(3577-3579)Act>Tct	p.T1193S		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1193					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CTCACAGTCTACTTGTGATGC	0.423																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(3577-3579)Act>Tct		NEDD4 binding protein 2							70.0	70.0	70.0					4																	40123308		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40123308A>T	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.3577A>T	4.37:g.40123308A>T	ENSP00000261435:p.Thr1193Ser						p.T1193S	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			9	3993	+			1193					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.3577A>T	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.564|0.564	-0.844200|-0.844200	0.02671|0.02671	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.15834|.	2.39|.	5.72|5.72	-6.62|-6.62	0.01813|0.01813	.|.	1.785200|.	0.02394|.	N|.	0.080001|.	T|T	0.29588|0.29588	0.0738|0.0738	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	B;B|.	0.13594|.	0.008;0.005|.	B;B|.	0.09377|.	0.004;0.002|.	T|T	0.28235|0.28235	-1.0050|-1.0050	10|5	0.17369|.	T|.	0.5|.	7.2244|7.2244	4.2837|4.2837	0.10844|0.10844	0.2855:0.341:0.2949:0.0786|0.2855:0.341:0.2949:0.0786	.|.	1193;1193|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	S|F	1193;1113|839	ENSP00000261435:T1193S|.	ENSP00000261435:T1193S|.	T|Y	+|+	1|2	0|0	N4BP2|N4BP2	39799703|39799703	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.010000|0.010000	0.07245|0.07245	-1.923000|-1.923000	0.01567|0.01567	-1.760000|-1.760000	0.01312|0.01312	-1.777000|-1.777000	0.00654|0.00654	ACT|TAC		0.423	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		4	150	0	0	0	1	0	4	150				
ANO10	55129	broad.mit.edu	37	3	43642047	43642047	+	Silent	SNP	A	A	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr3:43642047A>G	ENST00000292246.3	-	3	336	c.166T>C	c.(166-168)Tta>Cta	p.L56L	ANO10_ENST00000396091.3_Intron|ANO10_ENST00000350459.4_Silent_p.L56L|ANO10_ENST00000451430.2_Intron|ANO10_ENST00000414522.2_Silent_p.L56L	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	56					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						TATTTATTTAACAATGGTCTA	0.318																																						ENST00000292246.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						c.(166-168)Tta>Cta		anoctamin 10							84.0	83.0	83.0					3																	43642047		2203	4297	6500	SO:0001819	synonymous_variant	55129				cell death	chloride channel complex	chloride channel activity	g.chr3:43642047A>G	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.166T>C	3.37:g.43642047A>G						ANO10_ENST00000350459.4_Silent_p.L56L|ANO10_ENST00000396091.3_Intron|ANO10_ENST00000414522.2_Silent_p.L56L|ANO10_ENST00000451430.2_Intron	p.L56L	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN			3	336	-			56					A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Silent	SNP	ENST00000292246.3	37	c.166T>C	CCDS2710.2																																																																																				0.318	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2	NM_018075		4	149	0	0	0	1	0	4	149				
DNAH3	55567	broad.mit.edu	37	16	20990695	20990695	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr16:20990695C>T	ENST00000261383.3	-	50	8032	c.8033G>A	c.(8032-8034)cGc>cAc	p.R2678H	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2678	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGTCAGGTAGCGGTTCCTCAT	0.512																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(8032-8034)cGc>cAc		dynein, axonemal, heavy chain 3							121.0	112.0	115.0					16																	20990695		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20990695C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.8033G>A	16.37:g.20990695C>T	ENSP00000261383:p.Arg2678His					DNAH3_ENST00000415178.1_3'UTR	p.R2678H	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	50	8032	-			2678			Stalk (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.8033G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106140	0.77096	.	.	ENSG00000158486	ENST00000261383	T	0.80994	-1.44	6.16	6.16	0.99307	Dynein heavy chain, coiled coil stalk (1);	0.075480	0.56097	D	0.000022	D	0.86552	0.5960	M	0.93462	3.42	0.80722	D	1	P	0.48911	0.917	B	0.42555	0.391	D	0.89741	0.3933	10	0.87932	D	0	.	15.8763	0.79166	0.0:0.9342:0.0:0.0658	.	2678	Q8TD57	DYH3_HUMAN	H	2678	ENSP00000261383:R2678H	ENSP00000261383:R2678H	R	-	2	0	DNAH3	20898196	1.000000	0.71417	1.000000	0.80357	0.365000	0.29674	4.934000	0.63491	2.937000	0.99478	0.650000	0.86243	CGC		0.512	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		4	89	0	0	0	1	0	4	89				
TAAR9	134860	broad.mit.edu	37	6	132859788	132859788	+	RNA	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr6:132859788A>T	ENST00000434551.1	+	0	360					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TTGCTTCTTTATTTCATTTAT	0.403																																					Colon(10;433 445 15992 45047 47213)	ENST00000434551.1																			0													trace amine associated receptor 9 (gene/pseudogene)							174.0	165.0	168.0					6																	132859788		2041	4198	6239			134860					plasma membrane	G-protein coupled receptor activity	g.chr6:132859788A>T	AF380189	CCDS75520.1	6q23.2	2013-10-02	2010-03-12	2005-02-24	ENSG00000237110	ENSG00000237110		"""GPCR / Class A : Trace amine associated receptors"""	20977	protein-coding gene	gene with protein product		608282	"""trace amine receptor 3"", ""trace amine associated receptor 9"""	TRAR3		15718104	Standard	NM_175057		Approved	TA3, TAR3	uc011eci.2	Q96RI9	OTTHUMG00000015578		6.37:g.132859788A>T								NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)	0	360	+	Breast(56;0.112)								RNA	SNP	ENST00000434551.1	37																																																																																						0.403	TAAR9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000042254.2	NM_175057		5	177	0	0	0	1	0	5	177				
ST6GALNAC1	55808	broad.mit.edu	37	17	74622001	74622001	+	Splice_Site	SNP	C	C	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr17:74622001C>T	ENST00000156626.7	-	8	1705		c.e8-1		ST6GALNAC1_ENST00000590878.1_5'Flank	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1						oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						CCTCAGAAACCTGTGAAATGC	0.567																																						ENST00000156626.7																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						c.e8-1		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1							73.0	76.0	75.0					17																	74622001		2203	4300	6503	SO:0001630	splice_region_variant	55808				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	g.chr17:74622001C>T	Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.1506-1G>A	17.37:g.74622001C>T								NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN			8	1705	-								Q6UW90|Q9NSC6	Splice_Site	SNP	ENST00000156626.7	37		CCDS11748.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234677	0.79800	.	.	ENSG00000070526	ENST00000156626;ENST00000359088	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0674	0.89395	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ST6GALNAC1	72133596	1.000000	0.71417	0.852000	0.33557	0.865000	0.49528	6.978000	0.76147	2.595000	0.87683	0.655000	0.94253	.		0.567	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414	Intron	3	97	0	0	0	1	0	3	97				
IGFBP5	3488	broad.mit.edu	37	2	217541537	217541537	+	Silent	SNP	T	T	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr2:217541537T>C	ENST00000233813.4	-	4	1505	c.756A>G	c.(754-756)ccA>ccG	p.P252P		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	252	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942)	insulin-like growth factor I binding (GO:0031994)			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTCCATGCCTGGCAGCTTCA	0.607																																						ENST00000233813.4																			0				endometrium(1)|large_intestine(3)|lung(1)	5						c.(754-756)ccA>ccG		insulin-like growth factor binding protein 5							210.0	168.0	182.0					2																	217541537		2203	4300	6503	SO:0001819	synonymous_variant	3488				negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding	g.chr2:217541537T>C		CCDS2405.1	2q35	2014-09-16			ENSG00000115461	ENSG00000115461			5474	protein-coding gene	gene with protein product		146734				7511611	Standard	NM_000599		Approved		uc002vgj.4	P24593	OTTHUMG00000133058	ENST00000233813.4:c.756A>G	2.37:g.217541537T>C							p.P252P	NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1505	-		Renal(323;0.0822)	252			Thyroglobulin type-1.		Q5U0A3	Silent	SNP	ENST00000233813.4	37	c.756A>G	CCDS2405.1																																																																																				0.607	IGFBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256674.2	NM_000599		4	365	0	0	0	1	0	4	365				
CFAP57	149465	broad.mit.edu	37	1	43650987	43650987	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr1:43650987T>A	ENST00000372492.4	+	5	1253	c.929T>A	c.(928-930)aTg>aAg	p.M310K	WDR65_ENST00000528956.1_Missense_Mutation_p.M310K	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		310										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTTGAGAAGATGGAAGAAAAG	0.478																																						ENST00000372492.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(928-930)aTg>aAg		WD repeat domain 65							85.0	82.0	83.0					1																	43650987		2203	4300	6503	SO:0001583	missense	149465							g.chr1:43650987T>A																												ENST00000372492.4:c.929T>A	1.37:g.43650987T>A	ENSP00000361570:p.Met310Lys					WDR65_ENST00000528956.1_Missense_Mutation_p.M310K	p.M310K	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN			5	1253	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	310					A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	ENST00000372492.4	37	c.929T>A		.	.	.	.	.	.	.	.	.	.	T	10.48	1.363283	0.24684	.	.	ENSG00000243710	ENST00000372492;ENST00000528956	T;T	0.06068	3.35;3.35	5.53	3.2	0.36748	Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);	0.754623	0.13941	N	0.352205	T	0.04861	0.0131	L	0.36672	1.1	0.09310	N	1	B;B	0.15719	0.0;0.014	B;B	0.14023	0.0;0.01	T	0.46541	-0.9184	10	0.06099	T	0.92	.	8.0657	0.30659	0.0:0.2868:0.0:0.7132	.	310;310	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	K	310	ENSP00000361570:M310K;ENSP00000435310:M310K	ENSP00000361570:M310K	M	+	2	0	WDR65	43423574	0.142000	0.22610	0.784000	0.31847	0.955000	0.61496	0.964000	0.29306	0.475000	0.27415	0.482000	0.46254	ATG		0.478	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1			5	142	0	0	0	1	0	5	142				
NPIPA5	100288332	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr16:15457701G>A	ENST00000360151.4	-	8	867	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F		NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	290	Pro-rich.							p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562																																						ENST00000360151.4																			2	Substitution - Missense(2)	p.L290F(2)	kidney(2)								c.(868-870)Ctc>Ttc		nuclear pore complex interacting protein family, member A5																																				SO:0001583	missense	100288332							g.chr16:15457701G>A		CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793			41980	protein-coding gene	gene with protein product							Standard	NM_001277325		Approved			E9PKD4	OTTHUMG00000166305	ENST00000360151.4:c.868C>T	16.37:g.15457701G>A	ENSP00000433597:p.Leu290Phe						p.L290F	NM_001277325.1	NP_001264254.1					8	867	-								Q0P618	Missense_Mutation	SNP	ENST00000360151.4	37	c.868C>T	CCDS59264.1	.	.	.	.	.	.	.	.	.	.	.	4.044	0.005714	0.07866	.	.	ENSG00000183793	ENST00000360151	T	0.56275	0.47	.	.	.	.	.	.	.	.	T	0.52338	0.1728	M	0.62723	1.935	0.09310	N	1	.	.	.	.	.	.	T	0.44742	-0.9308	4	0.36615	T	0.2	.	.	.	.	.	.	.	.	F	290	ENSP00000433597:L290F	ENSP00000433597:L290F	L	-	1	0	RP11-82O18.1	15365202	.	.	.	.	.	.	.	.	.	.	.	.	CTC		0.562	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389069.1			5	134	0	0	0	1	0	5	134				
SOS2	6655	broad.mit.edu	37	14	50626628	50626628	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr14:50626628T>C	ENST00000216373.5	-	10	1647	c.1373A>G	c.(1372-1374)cAt>cGt	p.H458R	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.H425R	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	458	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CAGAAAAATATGCCGTTCATG	0.388																																						ENST00000216373.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39						c.(1372-1374)cAt>cGt		son of sevenless homolog 2 (Drosophila)							185.0	175.0	178.0					14																	50626628		2203	4300	6503	SO:0001583	missense	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50626628T>C	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.1373A>G	14.37:g.50626628T>C	ENSP00000216373:p.His458Arg					SOS2_ENST00000543680.1_Missense_Mutation_p.H425R|SOS2_ENST00000555794.1_5'UTR	p.H458R	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN			10	1647	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		458			PH.		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.1373A>G	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	T	12.99	2.102691	0.37145	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.75367	-0.93;-0.93	5.56	5.56	0.83823	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.70055	0.3180	L	0.54908	1.71	0.80722	D	1	B;B;B	0.24651	0.025;0.108;0.028	B;B;B	0.23852	0.035;0.049;0.037	T	0.65734	-0.6096	10	0.24483	T	0.36	.	15.7129	0.77644	0.0:0.0:0.0:1.0	.	425;488;458	B7ZKT6;Q59G32;Q07890	.;.;SOS2_HUMAN	R	458;425	ENSP00000216373:H458R;ENSP00000445328:H425R	ENSP00000216373:H458R	H	-	2	0	SOS2	49696378	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.964000	0.87933	2.111000	0.64477	0.528000	0.53228	CAT		0.388	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			90	140	0	0	0	1	0	90	140				
PKD1L2	114780	broad.mit.edu	37	16	81190482	81190482	+	RNA	SNP	G	G	A	rs375515044		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr16:81190482G>A	ENST00000525539.1	-	0	4106				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GATCCTGAGCGTCCTTCCTCC	0.547													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19594	0.0		0.0	False		,,,				2504	0.0					ENST00000533478.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2		G		1,4339		0,1,2169	57.0	59.0	59.0		4107	-5.2	0.2	16		59	0,8538		0,0,4269	no	coding-synonymous	PKD1L2	NM_052892.3		0,1,6438	AA,AG,GG		0.0,0.023,0.0078		1369/2460	81190482	1,12877	2170	4269	6439			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81190482G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81190482G>A						PKD1L2_ENST00000525539.1_RNA		NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN			0	2162	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000525539.1	37																																																																																						0.547	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			13	19	0	0	0	1	0	13	19				
TRGV5	6978	broad.mit.edu	37	7	38389495	38389495	+	RNA	SNP	C	C	A	rs2012300	byFrequency	TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr7:38389495C>A	ENST00000390344.2	-	0	128									T cell receptor gamma variable 5																		CTTAAAACTCCGGCCCCACTC	0.542													A|||	752	0.15016	0.1755	0.2435	5008	,	,		15107	0.0794		0.1481	False		,,,				2504	0.1247					ENST00000390344.2																			0																				42.0	43.0	43.0					7																	38389495		689	1570	2259			6978							g.chr7:38389495C>A	M36286		7p14	2012-02-07				ENSG00000211697		"""T cell receptors / TRG locus"""	12290	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V5"""			TCRGV5		2902186, 2969332	Standard	NG_001336		Approved	V1S5			OTTHUMG00000155101		7.37:g.38389495C>A														0	128	-									RNA	SNP	ENST00000390344.2	37																																																																																						0.542	TRGV5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338407.4	NG_001336		5	22	1	0	0.00198382	1	0.00210781	5	22				
TTN	7273	broad.mit.edu	37	2	179614538	179614538	+	Intron	SNP	C	C	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr2:179614538C>T	ENST00000591111.1	-	45	10585				TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.V4197I|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTAAAAGGACTCCATTTTGA	0.363																																						ENST00000360870.5																			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.(12589-12591)Gtc>Atc		titin							52.0	56.0	55.0					2																	179614538		2199	4296	6495	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179614538C>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.10360+3312G>A	2.37:g.179614538C>T						TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron	p.V4197I	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12811	-			3541					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.12589G>A		.	.	.	.	.	.	.	.	.	.	C	9.640	1.138754	0.21123	.	.	ENSG00000155657	ENST00000360870	T	0.66815	-0.23	5.84	-1.26	0.09376	.	.	.	.	.	T	0.46249	0.1383	L	0.33293	1	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.23583	-1.0184	9	0.22706	T	0.39	.	2.41	0.04422	0.1083:0.277:0.351:0.2637	.	4197	Q8WZ42-6	.	I	4197	ENSP00000354117:V4197I	ENSP00000354117:V4197I	V	-	1	0	TTN	179322783	0.000000	0.05858	0.004000	0.12327	0.836000	0.47400	0.174000	0.16743	-0.115000	0.11915	0.655000	0.94253	GTC		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	83	0	0	0	1	0	3	83				
MCC	4163	broad.mit.edu	37	5	112363128	112363128	+	Silent	SNP	C	C	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr5:112363128C>T	ENST00000302475.4	-	17	2924	c.2361G>A	c.(2359-2361)ctG>ctA	p.L787L	MCC_ENST00000408903.3_Silent_p.L977L|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Silent_p.L724L	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	787					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CTAACTTCTTCAGTTTGTTTT	0.448																																						ENST00000302475.4																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(2359-2361)ctG>ctA		mutated in colorectal cancers							243.0	206.0	219.0					5																	112363128		2202	4300	6502	SO:0001819	synonymous_variant	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112363128C>T		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.2361G>A	5.37:g.112363128C>T						MCC_ENST00000515367.2_Silent_p.L724L|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Silent_p.L977L	p.L787L	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	17	2924	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	787					D3DT05|Q6ZR04	Silent	SNP	ENST00000302475.4	37	c.2361G>A	CCDS4111.1																																																																																				0.448	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		4	235	0	0	0	1	0	4	235				
MTMR3	8897	broad.mit.edu	37	22	30384486	30384486	+	Missense_Mutation	SNP	A	A	G	rs541335763	byFrequency	TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr22:30384486A>G	ENST00000401950.2	+	6	570	c.228A>G	c.(226-228)atA>atG	p.I76M	MTMR3_ENST00000323630.5_5'UTR|MTMR3_ENST00000351488.3_Missense_Mutation_p.I76M|MTMR3_ENST00000406629.1_Missense_Mutation_p.I76M|MTMR3_ENST00000415511.1_Intron|MTMR3_ENST00000333027.3_Missense_Mutation_p.I76M	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	76					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TACAGCTTATAGAAAGTGTTG	0.358																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(226-228)atA>atG		myotubularin related protein 3							140.0	132.0	134.0					22																	30384486		2202	4300	6502	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30384486A>G	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.228A>G	22.37:g.30384486A>G	ENSP00000384651:p.Ile76Met					MTMR3_ENST00000406629.1_Missense_Mutation_p.I76M|MTMR3_ENST00000401950.2_Missense_Mutation_p.I76M|MTMR3_ENST00000415511.1_Intron|MTMR3_ENST00000323630.5_5'UTR|MTMR3_ENST00000351488.3_Missense_Mutation_p.I76M	p.I76M	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		6	556	+			76					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.228A>G	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	A	16.78	3.216789	0.58452	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000445401;ENST00000351488;ENST00000406629	D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48	5.84	3.65	0.41850	.	0.084898	0.85682	D	0.000000	D	0.88698	0.6507	L	0.48174	1.505	0.80722	D	1	P;P;P	0.51653	0.851;0.947;0.851	P;P;P	0.55615	0.58;0.78;0.58	D	0.86003	0.1496	10	0.56958	D	0.05	.	6.9832	0.24713	0.5173:0.1248:0.0:0.3578	.	76;76;76	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	M	76	ENSP00000384651:I76M;ENSP00000331649:I76M;ENSP00000409063:I76M;ENSP00000307271:I76M;ENSP00000384077:I76M	ENSP00000331649:I76M	I	+	3	3	MTMR3	28714486	0.990000	0.36364	1.000000	0.80357	0.999000	0.98932	0.312000	0.19397	0.414000	0.25790	0.528000	0.53228	ATA		0.358	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		56	69	0	0	0	1	0	56	69				
CKAP2L	150468	broad.mit.edu	37	2	113500345	113500345	+	Splice_Site	SNP	G	G	A			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr2:113500345G>A	ENST00000302450.6	-	7	1838	c.1760C>T	c.(1759-1761)cCa>cTa	p.P587L	CKAP2L_ENST00000541405.1_Splice_Site_p.P422L|NT5DC4_ENST00000327581.4_3'UTR	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	587						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CTCTTGTATTGGCTGGAAGGA	0.294																																						ENST00000541405.1																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.e7-1		cytoskeleton associated protein 2-like							71.0	75.0	74.0					2																	113500345		2203	4300	6503	SO:0001630	splice_region_variant	150468					centrosome		g.chr2:113500345G>A	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.1759-1C>T	2.37:g.113500345G>A						NT5DC4_ENST00000327581.4_3'UTR|CKAP2L_ENST00000302450.6_Splice_Site_p.P587_splice	p.P422_splice			Q8IYA6	CKP2L_HUMAN			7	1788	-			587					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Splice_Site	SNP	ENST00000302450.6	37	c.1263_splice	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388032	0.82902	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.67698	-0.28;-0.28	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.83492	0.5266	M	0.85462	2.755	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.85473	0.1174	10	0.72032	D	0.01	-8.3923	15.5857	0.76479	0.0:0.0:1.0:0.0	.	176;587	Q8IYA6-2;Q8IYA6	.;CKP2L_HUMAN	L	422;587	ENSP00000438763:P422L;ENSP00000305204:P587L	ENSP00000305204:P587L	P	-	2	0	CKAP2L	113216816	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.189000	0.65098	2.734000	0.93682	0.655000	0.94253	CCA		0.294	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515	Missense_Mutation	3	32	0	0	0	1	0	3	32				
CNNM2	54805	broad.mit.edu	37	10	104836767	104836767	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr10:104836767C>T	ENST00000369878.4	+	8	2646	c.2458C>T	c.(2458-2460)Cgg>Tgg	p.R820W	CNNM2_ENST00000475511.1_3'UTR|CNNM2_ENST00000433628.2_Missense_Mutation_p.R798W	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	820					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GATGGCATCCCGGATGGACAA	0.463																																						ENST00000369878.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(2458-2460)Cgg>Tgg		cyclin M2							109.0	108.0	108.0					10																	104836767		1916	4128	6044	SO:0001583	missense	54805				ion transport	integral to membrane		g.chr10:104836767C>T	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.2458C>T	10.37:g.104836767C>T	ENSP00000358894:p.Arg820Trp					CNNM2_ENST00000433628.2_Missense_Mutation_p.R798W|CNNM2_ENST00000457502.2_Missense_Mutation_p.R578W|CNNM2_ENST00000475511.1_3'UTR	p.R820W	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	8	2582	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	820					Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	37	c.2458C>T	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	C	32	5.171967	0.94807	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369878;ENST00000345419	T	0.32272	1.46	5.69	5.69	0.88448	.	0.057874	0.64402	D	0.000001	T	0.59932	0.2230	M	0.82517	2.595	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.63488	0.886;0.915	T	0.64219	-0.6459	10	0.72032	D	0.01	.	19.7954	0.96478	0.0:1.0:0.0:0.0	.	798;820	Q9H8M5-2;Q9H8M5	.;CNNM2_HUMAN	W	821;799;820;798	ENSP00000358894:R820W	ENSP00000286899:R798W	R	+	1	2	CNNM2	104826757	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.738000	0.68613	2.677000	0.91161	0.555000	0.69702	CGG		0.463	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		6	96	0	0	0	1	0	6	96				
KIF5A	3798	broad.mit.edu	37	12	57957964	57957964	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr12:57957964C>G	ENST00000455537.2	+	4	639	c.365C>G	c.(364-366)tCc>tGc	p.S122C	KIF5A_ENST00000286452.5_Intron	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	122	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CACATCTACTCCATGGATGAG	0.517																																						ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(364-366)tCc>tGc		kinesin family member 5A							105.0	89.0	95.0					12																	57957964		2203	4300	6503	SO:0001583	missense	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57957964C>G	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.365C>G	12.37:g.57957964C>G	ENSP00000408979:p.Ser122Cys					KIF5A_ENST00000286452.5_Intron	p.S122C	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN			4	639	+			122			Kinesin-motor.		A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.365C>G	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839420	0.91117	.	.	ENSG00000155980	ENST00000455537	T	0.76186	-1.0	4.87	4.87	0.63330	Kinesin, motor domain (4);	0.119652	0.56097	D	0.000029	T	0.80747	0.4682	M	0.78456	2.415	0.80722	D	1	P	0.47350	0.894	P	0.48368	0.575	D	0.83888	0.0283	10	0.66056	D	0.02	.	17.3316	0.87265	0.0:1.0:0.0:0.0	.	122	Q12840	KIF5A_HUMAN	C	122	ENSP00000408979:S122C	ENSP00000408979:S122C	S	+	2	0	KIF5A	56244231	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.656000	0.67988	2.691000	0.91804	0.655000	0.94253	TCC		0.517	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		3	95	0	0	0	1	0	3	95				
BMP10	27302	broad.mit.edu	37	2	69093688	69093688	+	Missense_Mutation	SNP	G	G	A	rs141935259		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr2:69093688G>A	ENST00000295379.1	-	2	508	c.350C>T	c.(349-351)cCg>cTg	p.P117L		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	117					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)	p.P117L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						AAAACTGACCGGCTGGGAAAA	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		20428	0.001		0.0	False		,,,				2504	0.0					ENST00000295379.1																			1	Substitution - Missense(1)	p.P117L(1)	endometrium(1)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						c.(349-351)cCg>cTg		bone morphogenetic protein 10		G	LEU/PRO	1,4401		0,1,2200	28.0	30.0	29.0		350	5.9	1.0	2	dbSNP_134	29	0,8592		0,0,4296	yes	missense	BMP10	NM_014482.1	98	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	benign	117/425	69093688	1,12993	2201	4296	6497	SO:0001583	missense	27302				activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding	g.chr2:69093688G>A	AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.350C>T	2.37:g.69093688G>A	ENSP00000295379:p.Pro117Leu						p.P117L	NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN			2	508	-			117					Q53R17|Q6NTE0	Missense_Mutation	SNP	ENST00000295379.1	37	c.350C>T	CCDS1890.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.49	1.653907	0.29425	2.27E-4	0.0	ENSG00000163217	ENST00000295379	T	0.73363	-0.74	5.94	5.94	0.96194	Transforming growth factor-beta, N-terminal (1);	0.254934	0.42682	D	0.000674	T	0.69142	0.3078	L	0.50333	1.59	0.48452	D	0.999655	B	0.28026	0.198	B	0.28784	0.094	T	0.64732	-0.6338	10	0.07990	T	0.79	.	19.3434	0.94355	0.0:0.0:1.0:0.0	.	117	O95393	BMP10_HUMAN	L	117	ENSP00000295379:P117L	ENSP00000295379:P117L	P	-	2	0	BMP10	68947192	0.993000	0.37304	0.994000	0.49952	0.632000	0.37999	2.843000	0.48238	2.812000	0.96745	0.557000	0.71058	CCG		0.428	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251768.1	NM_014482		21	26	0	0	0	1	0	21	26				
TAF7L	54457	broad.mit.edu	37	X	100536765	100536765	+	Splice_Site	SNP	T	T	A			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chrX:100536765T>A	ENST00000372907.3	-	6	676		c.e6-2		TAF7L_ENST00000372905.2_Splice_Site|TAF7L_ENST00000324762.6_Splice_Site|TAF7L_ENST00000356784.1_Splice_Site	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GTGGCGTAACTAAAATAAATA	0.373																																					Ovarian(104;431 1530 3210 15406 18594)	ENST00000372907.3																			0				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.e6-2		TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa							148.0	128.0	135.0					X																	100536765		2203	4300	6503	SO:0001630	splice_region_variant	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100536765T>A	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.665-2A>T	X.37:g.100536765T>A						TAF7L_ENST00000372905.2_Splice_Site|TAF7L_ENST00000324762.6_Splice_Site|TAF7L_ENST00000356784.1_Splice_Site		NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN			6	676	-								Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Splice_Site	SNP	ENST00000372907.3	37		CCDS35347.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.392592	0.83011	.	.	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6831	0.77388	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TAF7L	100423421	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.176000	0.71955	2.088000	0.63022	0.486000	0.48141	.		0.373	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2		Intron	4	65	0	0	0	1	0	4	65				
ATP1B4	23439	broad.mit.edu	37	X	119504588	119504588	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chrX:119504588A>T	ENST00000218008.3	+	3	404	c.347A>T	c.(346-348)tAc>tTc	p.Y116F	ATP1B4_ENST00000539306.1_Intron|ATP1B4_ENST00000361319.3_Missense_Mutation_p.Y112F	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	116					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						TTACTCATTTACTTCTTCTTC	0.483																																						ENST00000218008.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(346-348)tAc>tTc		ATPase, Na+/K+ transporting, beta 4 polypeptide							357.0	272.0	301.0					X																	119504588		2203	4300	6503	SO:0001583	missense	23439				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	g.chrX:119504588A>T	AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"""ATPases / P-type"""	808	protein-coding gene	gene with protein product	"""Na,K-ATPase beta m-subunit"""		"""ATPase, (Na+)/K+ transporting, beta 4 polypeptide"""			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.347A>T	X.37:g.119504588A>T	ENSP00000218008:p.Tyr116Phe					ATP1B4_ENST00000539306.1_Intron|ATP1B4_ENST00000361319.3_Missense_Mutation_p.Y112F	p.Y116F	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN			3	404	+			116					Q17RR0|Q9UN41	Missense_Mutation	SNP	ENST00000218008.3	37	c.347A>T	CCDS48158.1	.	.	.	.	.	.	.	.	.	.	A	14.72	2.619953	0.46736	.	.	ENSG00000101892	ENST00000218008;ENST00000361319	T;T	0.52754	0.65;0.65	5.54	5.54	0.83059	.	0.053377	0.85682	N	0.000000	T	0.75824	0.3902	M	0.93420	3.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.997	T	0.82398	-0.0477	10	0.72032	D	0.01	-14.3682	13.3709	0.60713	1.0:0.0:0.0:0.0	.	81;116;112	B7ZKV9;Q9UN42;Q9UN42-2	.;AT1B4_HUMAN;.	F	116;112	ENSP00000218008:Y116F;ENSP00000355346:Y112F	ENSP00000218008:Y116F	Y	+	2	0	ATP1B4	119388616	1.000000	0.71417	1.000000	0.80357	0.076000	0.17211	8.569000	0.90744	1.836000	0.53414	0.345000	0.21793	TAC		0.483	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	NM_001142447		5	207	0	0	0	1	0	5	207				
PCNT	5116	broad.mit.edu	37	21	47754527	47754527	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr21:47754527A>G	ENST00000359568.5	+	3	591	c.484A>G	c.(484-486)Agt>Ggt	p.S162G	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	162					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTTCACAGTCAGTGACCACCC	0.552																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(484-486)Agt>Ggt		pericentrin							206.0	129.0	155.0					21																	47754527		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47754527A>G	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.484A>G	21.37:g.47754527A>G	ENSP00000352572:p.Ser162Gly					PCNT_ENST00000480896.1_3'UTR	p.S162G	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			3	591	+	Breast(49;0.112)		162					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.484A>G	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	a	0.030	-1.341863	0.01277	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.01705	4.68	0.235	0.235	0.15431	.	.	.	.	.	T	0.02767	0.0083	L	0.36672	1.1	0.09310	N	1	P;P	0.46395	0.877;0.805	P;P	0.51866	0.682;0.483	T	0.50215	-0.8854	8	0.25751	T	0.34	.	.	.	.	.	44;162	O95613-2;O95613	.;PCNT_HUMAN	G	162;149	ENSP00000352572:S162G	ENSP00000338675:S149G	S	+	1	0	PCNT	46578955	0.036000	0.19791	0.005000	0.12908	0.005000	0.04900	1.077000	0.30741	0.263000	0.21812	0.260000	0.18958	AGT		0.552	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		6	246	0	0	0	1	0	6	246				
GPAM	57678	broad.mit.edu	37	10	113915654	113915654	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr10:113915654A>T	ENST00000348367.4	-	20	2476	c.2279T>A	c.(2278-2280)aTa>aAa	p.I760K	GPAM_ENST00000369425.1_3'UTR|GPAM_ENST00000423155.1_Missense_Mutation_p.I760K			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	760					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TGTTCTGGTTATTAGGTATTT	0.353																																					Ovarian(161;1017 2606 18293 52943)	ENST00000348367.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(2278-2280)aTa>aAa		glycerol-3-phosphate acyltransferase, mitochondrial							110.0	103.0	105.0					10																	113915654		2203	4300	6503	SO:0001583	missense	57678				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr10:113915654A>T	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.2279T>A	10.37:g.113915654A>T	ENSP00000265276:p.Ile760Lys					GPAM_ENST00000369425.1_3'UTR|GPAM_ENST00000423155.1_Missense_Mutation_p.I760K	p.I760K			Q9HCL2	GPAT1_HUMAN		Epithelial(162;0.0306)|all cancers(201;0.123)	20	2476	-			760					Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	37	c.2279T>A	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	A	8.837	0.941421	0.18281	.	.	ENSG00000119927	ENST00000348367;ENST00000423155	T;T	0.64438	-0.1;-0.1	5.08	5.08	0.68730	.	0.341865	0.30869	N	0.008713	T	0.43523	0.1251	N	0.19112	0.55	0.23735	N	0.996985	B	0.26258	0.145	B	0.28709	0.093	T	0.23297	-1.0192	10	0.02654	T	1	-1.4841	13.721	0.62728	1.0:0.0:0.0:0.0	.	760	Q9HCL2	GPAT1_HUMAN	K	760	ENSP00000265276:I760K;ENSP00000409242:I760K	ENSP00000265276:I760K	I	-	2	0	GPAM	113905644	0.922000	0.31269	0.006000	0.13384	0.509000	0.34042	8.329000	0.90017	2.028000	0.59812	0.533000	0.62120	ATA		0.353	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		4	102	0	0	0	1	0	4	102				
TSGA10	80705	broad.mit.edu	37	2	99689497	99689497	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr2:99689497T>C	ENST00000393483.3	-	13	1766	c.922A>G	c.(922-924)Atg>Gtg	p.M308V	TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000542655.1_Intron|TSGA10_ENST00000539964.1_Missense_Mutation_p.M308V|TSGA10_ENST00000410001.1_Missense_Mutation_p.M308V|TSGA10_ENST00000355053.4_Missense_Mutation_p.M308V	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	308					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						GCCTGTTCCATCTCAGCAATG	0.338																																						ENST00000393483.3																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.(922-924)Atg>Gtg		testis specific, 10							158.0	137.0	144.0					2																	99689497		2203	4300	6503	SO:0001583	missense	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99689497T>C	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.922A>G	2.37:g.99689497T>C	ENSP00000377123:p.Met308Val					TSGA10_ENST00000542655.1_Intron|TSGA10_ENST00000410001.1_Missense_Mutation_p.M308V|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000539964.1_Missense_Mutation_p.M308V|TSGA10_ENST00000355053.4_Missense_Mutation_p.M308V	p.M308V	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN			13	1766	-			308					B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	c.922A>G	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.752276	0.31046	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482	T;T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13;1.13	4.94	4.94	0.65067	.	0.082716	0.52532	D	0.000076	T	0.26376	0.0644	N	0.14661	0.345	0.80722	D	1	B	0.15473	0.013	B	0.09377	0.004	T	0.06807	-1.0806	10	0.51188	T	0.08	-12.9886	10.9136	0.47122	0.0:0.0:0.0:1.0	.	308	Q9BZW7	TSG10_HUMAN	V	308	ENSP00000377123:M308V;ENSP00000386956:M308V;ENSP00000347161:M308V;ENSP00000444419:M308V;ENSP00000386508:M308V;ENSP00000377122:M308V	ENSP00000347161:M308V	M	-	1	0	TSGA10	99055929	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.089000	0.41672	2.092000	0.63282	0.477000	0.44152	ATG		0.338	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		4	162	0	0	0	1	0	4	162				
HS3ST2	9956	broad.mit.edu	37	16	22826356	22826356	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr16:22826356C>T	ENST00000261374.3	+	1	859	c.425C>T	c.(424-426)gCc>gTc	p.A142V		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	142					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GACGTGCGGGCCTTGGGCACG	0.647																																						ENST00000261374.3																			0				breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19						c.(424-426)gCc>gTc		heparan sulfate (glucosamine) 3-O-sulfotransferase 2							19.0	24.0	22.0					16																	22826356		2163	4254	6417	SO:0001583	missense	9956					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	g.chr16:22826356C>T	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.425C>T	16.37:g.22826356C>T	ENSP00000261374:p.Ala142Val						p.A142V	NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN		GBM - Glioblastoma multiforme(48;0.0299)	1	859	+			142					Q52LZ1	Missense_Mutation	SNP	ENST00000261374.3	37	c.425C>T	CCDS10606.1	.	.	.	.	.	.	.	.	.	.	C	34	5.322799	0.95708	.	.	ENSG00000122254	ENST00000261374;ENST00000540146	D	0.83419	-1.72	5.12	5.12	0.69794	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.89887	0.6845	M	0.67517	2.055	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.90118	0.4197	10	0.51188	T	0.08	.	17.1279	0.86719	0.0:1.0:0.0:0.0	.	142	Q9Y278	HS3S2_HUMAN	V	142;150	ENSP00000261374:A142V	ENSP00000261374:A142V	A	+	2	0	HS3ST2	22733857	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.308000	0.78929	2.363000	0.80096	0.655000	0.94253	GCC		0.647	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		14	24	0	0	0	1	0	14	24				
COG3	83548	broad.mit.edu	37	13	46054373	46054373	+	Missense_Mutation	SNP	C	C	A	rs376780940		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr13:46054373C>A	ENST00000349995.5	+	4	609	c.497C>A	c.(496-498)tCc>tAc	p.S166Y		NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	166					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		CTTTTTGTGTCCAATAAGACA	0.378																																					Ovarian(150;1048 1859 18083 21577 42700)	ENST00000349995.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24						c.(496-498)tCc>tAc		component of oligomeric golgi complex 3		C	TYR/SER	0,4406		0,0,2203	120.0	119.0	119.0		497	6.0	1.0	13		119	2,8598	2.2+/-6.3	0,2,4298	no	missense	COG3	NM_031431.3	144	0,2,6501	AA,AC,CC		0.0233,0.0,0.0154	probably-damaging	166/829	46054373	2,13004	2203	4300	6503	SO:0001583	missense	83548				ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity	g.chr13:46054373C>A	AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"""Components of oligomeric golgi complex"""	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.497C>A	13.37:g.46054373C>A	ENSP00000258654:p.Ser166Tyr						p.S166Y	NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)	4	609	+		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	166					B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Missense_Mutation	SNP	ENST00000349995.5	37	c.497C>A	CCDS9398.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798620	0.90538	0.0	2.33E-4	ENSG00000136152	ENST00000349995	T	0.52983	0.64	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.73148	0.3550	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.75484	0.977;0.986	T	0.75227	-0.3392	10	0.72032	D	0.01	-9.1893	19.4402	0.94817	0.0:1.0:0.0:0.0	.	166;166	Q96JB2;Q96JB2-2	COG3_HUMAN;.	Y	166	ENSP00000258654:S166Y	ENSP00000258654:S166Y	S	+	2	0	COG3	44952374	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.838000	0.97847	0.591000	0.81541	TCC		0.378	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2			3	67	1	0	0.115264	1	0.119969	3	67				
RRBP1	6238	broad.mit.edu	37	20	17595443	17595443	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr20:17595443T>C	ENST00000377813.1	-	24	4436	c.4133A>G	c.(4132-4134)cAg>cGg	p.Q1378R	RRBP1_ENST00000455029.2_Missense_Mutation_p.Q719R|RRBP1_ENST00000360807.4_Missense_Mutation_p.Q945R|RRBP1_ENST00000246043.4_Missense_Mutation_p.Q1378R|RRBP1_ENST00000377807.2_Missense_Mutation_p.Q945R|RRBP1_ENST00000470422.1_5'UTR			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1378					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CAGCTGCTCCTGGGTCGTCTT	0.582																																						ENST00000377813.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						c.(4132-4134)cAg>cGg		ribosome binding protein 1							94.0	90.0	91.0					20																	17595443		2203	4300	6503	SO:0001583	missense	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17595443T>C	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.4133A>G	20.37:g.17595443T>C	ENSP00000367044:p.Gln1378Arg					RRBP1_ENST00000468428.1_5'UTR|RRBP1_ENST00000455029.2_Missense_Mutation_p.Q719R|RRBP1_ENST00000246043.4_Missense_Mutation_p.Q1378R|RRBP1_ENST00000377807.2_Missense_Mutation_p.Q945R|RRBP1_ENST00000360807.4_Missense_Mutation_p.Q945R	p.Q1378R			Q9P2E9	RRBP1_HUMAN			24	4436	-			1378					A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37	c.4133A>G		.	.	.	.	.	.	.	.	.	.	T	16.33	3.092836	0.56075	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.48	4.36	0.52297	.	0.000000	0.35525	N	0.003150	T	0.40196	0.1107	L	0.32530	0.975	0.41908	D	0.990458	D;D	0.71674	0.998;0.993	D;P	0.80764	0.994;0.796	T	0.10086	-1.0645	10	0.27082	T	0.32	-17.2277	10.5875	0.45290	0.0:0.0:0.1617:0.8383	.	945;1378	Q9P2E9-3;Q9P2E9	.;RRBP1_HUMAN	R	945;1378;945;1378;719	ENSP00000354045:Q945R;ENSP00000367044:Q1378R;ENSP00000367038:Q945R;ENSP00000246043:Q1378R;ENSP00000401206:Q719R	ENSP00000246043:Q1378R	Q	-	2	0	RRBP1	17543443	1.000000	0.71417	1.000000	0.80357	0.233000	0.25261	5.345000	0.65987	0.893000	0.36288	0.459000	0.35465	CAG		0.582	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		3	48	0	0	0	1	0	3	48				
TFIP11	24144	broad.mit.edu	37	22	26888109	26888109	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr22:26888109C>T	ENST00000407690.1	-	15	2667	c.2384G>A	c.(2383-2385)cGa>cAa	p.R795Q	TFIP11_ENST00000407431.1_Missense_Mutation_p.R795Q|TFIP11_ENST00000405938.1_Missense_Mutation_p.R795Q|TFIP11_ENST00000407148.1_Missense_Mutation_p.R795Q|SRRD_ENST00000215917.7_3'UTR	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	795					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CCCTTCGTGTCGCTTCCCAAT	0.557																																						ENST00000407690.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(2383-2385)cGa>cAa		tuftelin interacting protein 11							136.0	91.0	106.0					22																	26888109		2203	4300	6503	SO:0001583	missense	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26888109C>T	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.2384G>A	22.37:g.26888109C>T	ENSP00000384421:p.Arg795Gln					TFIP11_ENST00000407431.1_Missense_Mutation_p.R795Q|TFIP11_ENST00000407148.1_Missense_Mutation_p.R795Q|TFIP11_ENST00000405938.1_Missense_Mutation_p.R795Q	p.R795Q	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN			15	2667	-			795					O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	ENST00000407690.1	37	c.2384G>A	CCDS13838.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824053	0.90873	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000442693;ENST00000405938	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.39	5.39	0.77823	.	0.113939	0.64402	D	0.000012	T	0.58466	0.2124	M	0.72894	2.215	0.58432	D	0.999998	D;D	0.76494	0.994;0.999	P;P	0.57009	0.574;0.811	T	0.52578	-0.8557	10	0.27082	T	0.32	-31.7411	18.333	0.90277	0.0:1.0:0.0:0.0	.	795;154	Q9UBB9;Q9UBB9-2	TFP11_HUMAN;.	Q	795;795;795;480;795	ENSP00000384421:R795Q;ENSP00000383892:R795Q;ENSP00000385861:R795Q;ENSP00000384297:R795Q	ENSP00000384297:R795Q	R	-	2	0	TFIP11	25218109	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	5.601000	0.67606	2.804000	0.96469	0.655000	0.94253	CGA		0.557	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		4	80	0	0	0	1	0	4	80				
PRSS16	10279	broad.mit.edu	37	6	27215757	27215757	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr6:27215757T>C	ENST00000230582.3	+	2	182	c.167T>C	c.(166-168)cTc>cCc	p.L56P	PRSS16_ENST00000421826.2_Missense_Mutation_p.L56P	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	56					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCTGCAGCCCTCCCAAAAGTG	0.632																																					NSCLC(178;1118 2105 17078 23587 44429)	ENST00000230582.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(166-168)cTc>cCc		protease, serine, 16 (thymus)							47.0	47.0	47.0					6																	27215757		2203	4300	6503	SO:0001583	missense	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27215757T>C	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.167T>C	6.37:g.27215757T>C	ENSP00000230582:p.Leu56Pro					PRSS16_ENST00000421826.2_Missense_Mutation_p.L56P	p.L56P	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN			2	182	+			56					O75416	Missense_Mutation	SNP	ENST00000230582.3	37	c.167T>C	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	t	10.14	1.267250	0.23136	.	.	ENSG00000112812	ENST00000421826;ENST00000230582;ENST00000343467;ENST00000348953	T;T	0.46819	0.86;2.46	2.54	1.31	0.21738	.	1.300740	0.05216	N	0.507583	T	0.14141	0.0342	N	0.19112	0.55	0.09310	N	0.999996	P;B	0.44734	0.842;0.001	B;B	0.41571	0.36;0.001	T	0.07809	-1.0753	10	0.25751	T	0.34	0.0434	5.5709	0.17196	0.0:0.0:0.287:0.713	.	56;56	F2Z2N5;Q9NQE7	.;TSSP_HUMAN	P	56	ENSP00000404349:L56P;ENSP00000230582:L56P	ENSP00000230582:L56P	L	+	2	0	PRSS16	27323736	0.001000	0.12720	0.046000	0.18839	0.416000	0.31233	0.052000	0.14163	0.384000	0.24942	0.460000	0.39030	CTC		0.632	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			3	118	0	0	0	1	0	3	118				
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr19:53856702G>A	ENST00000595091.1	+	5	2993	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R925H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363													.|||	267	0.0533147	0.0484	0.0562	5008	,	,		21751	0.0466		0.0915	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - Missense(3)	p.R925H(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2773-2775)cGt>cAt		zinc finger protein 845							33.0	30.0	31.0					19																	53856702		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856702G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2774G>A	19.37:g.53856702G>A	ENSP00000470005:p.Arg925His					ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2891	+			925						Missense_Mutation	SNP	ENST00000595091.1	37	c.2774G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334080	0.11013	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	2.0	-4.0	0.04057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.58302	1.8	0.09310	N	1	D	0.55800	0.973	P	0.53760	0.734	T	0.43925	-0.9361	9	0.51188	T	0.08	.	10.7803	0.46374	0.0:0.6804:0.1821:0.1375	.	925	Q96IR2	ZN845_HUMAN	H	925;841	ENSP00000388311:R925H	ENSP00000412086:R841H	R	+	2	0	ZNF845	58548514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.662000	0.00032	-1.603000	0.01597	-0.499000	0.04595	CGT		0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	31	0	0	0	1	0	3	31				
CHD7	55636	broad.mit.edu	37	8	61654168	61654168	+	Silent	SNP	T	T	A			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr8:61654168T>A	ENST00000423902.2	+	2	656	c.177T>A	c.(175-177)acT>acA	p.T59T	CHD7_ENST00000524602.1_Silent_p.T59T|CHD7_ENST00000525508.1_Silent_p.T59T	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	59					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ATCCTTCAACTAATCAAAATC	0.398																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(175-177)acT>acA		chromodomain helicase DNA binding protein 7							82.0	77.0	79.0					8																	61654168		1965	4157	6122	SO:0001819	synonymous_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61654168T>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.177T>A	8.37:g.61654168T>A						CHD7_ENST00000524602.1_Silent_p.T59T|CHD7_ENST00000525508.1_Silent_p.T59T	p.T59T	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		2	656	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	59					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	c.177T>A	CCDS47865.1																																																																																				0.398	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		3	44	0	0	0	1	0	3	44				
SENP2	59343	broad.mit.edu	37	3	185324122	185324122	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr3:185324122A>T	ENST00000296257.5	+	6	694	c.454A>T	c.(454-456)Act>Tct	p.T152S	SENP2_ENST00000465201.1_3'UTR|SENP2_ENST00000545472.1_Missense_Mutation_p.T142S|SENP2_ENST00000427465.2_5'UTR	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	152					cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GCTCAGTTTTACTTTGAACTC	0.413																																						ENST00000296257.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12						c.(454-456)Act>Tct		SUMO1/sentrin/SMT3 specific peptidase 2							66.0	70.0	69.0					3																	185324122		2203	4300	6503	SO:0001583	missense	59343				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity	g.chr3:185324122A>T	AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"""SUMO1/sentrin/SMT3 specific protease 2"""			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.454A>T	3.37:g.185324122A>T	ENSP00000296257:p.Thr152Ser					SENP2_ENST00000427465.2_5'UTR|SENP2_ENST00000465201.1_3'UTR|SENP2_ENST00000545472.1_Missense_Mutation_p.T142S	p.T152S	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		6	694	+	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		152					B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Missense_Mutation	SNP	ENST00000296257.5	37	c.454A>T	CCDS33902.1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.870004	0.33069	.	.	ENSG00000163904	ENST00000430355;ENST00000545472;ENST00000296257	T;T	0.23754	1.89;1.9	5.49	-0.304	0.12788	.	0.530450	0.17698	N	0.165030	T	0.08802	0.0218	N	0.14661	0.345	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.27502	-1.0072	10	0.07482	T	0.82	-3.9612	0.7995	0.01072	0.4495:0.2157:0.1866:0.1482	.	142;152	B4DQ42;Q9HC62	.;SENP2_HUMAN	S	206;142;152	ENSP00000439653:T142S;ENSP00000296257:T152S	ENSP00000296257:T152S	T	+	1	0	SENP2	186806816	0.981000	0.34729	0.988000	0.46212	0.689000	0.40095	0.055000	0.14229	0.120000	0.18254	0.472000	0.43445	ACT		0.413	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627		4	87	0	0	0	1	0	4	87				
PSMD1	5707	broad.mit.edu	37	2	232035330	232035330	+	Silent	SNP	G	G	A			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr2:232035330G>A	ENST00000308696.6	+	24	2928	c.2766G>A	c.(2764-2766)gaG>gaA	p.E922E	PSMD1_ENST00000373635.4_Silent_p.E891E|PSMD1_ENST00000409643.1_Silent_p.E891E	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	922					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)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|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 polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	AAGACATTGAGGAGCTGGTGG	0.493																																						ENST00000308696.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31						c.(2764-2766)gaG>gaA		proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	Bortezomib(DB00188)						97.0	94.0	95.0					2																	232035330		2203	4300	6503	SO:0001819	synonymous_variant	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:232035330G>A	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.2766G>A	2.37:g.232035330G>A						PSMD1_ENST00000409643.1_Silent_p.E891E|PSMD1_ENST00000373635.4_Silent_p.E891E	p.E922E	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	24	2928	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	922					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Silent	SNP	ENST00000308696.6	37	c.2766G>A	CCDS2482.1																																																																																				0.493	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			3	104	0	0	0	1	0	3	104				
BOD1L1	259282	broad.mit.edu	37	4	13603058	13603058	+	Silent	SNP	C	C	T	rs549726105	byFrequency	TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr4:13603058C>T	ENST00000040738.5	-	10	5601	c.5466G>A	c.(5464-5466)tcG>tcA	p.S1822S		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1822						nucleus (GO:0005634)	DNA binding (GO:0003677)										CATTTTCTTCCGATTCAGAAC	0.488													C|||	2	0.000399361	0.0	0.0	5008	,	,		23209	0.001		0.0	False		,,,				2504	0.001					ENST00000040738.5																			0											c.(5464-5466)tcG>tcA		biorientation of chromosomes in cell division 1-like 1							113.0	119.0	117.0					4																	13603058		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13603058C>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.5466G>A	4.37:g.13603058C>T							p.S1822S	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	5601	-			1822					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.5466G>A	CCDS3411.2																																																																																				0.488	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		4	201	0	0	0	1	0	4	201				
TBC1D23	55773	broad.mit.edu	37	3	100016854	100016854	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr3:100016854G>A	ENST00000394144.4	+	9	971	c.964G>A	c.(964-966)Gtg>Atg	p.V322M	TBC1D23_ENST00000475134.1_Missense_Mutation_p.V185M|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Missense_Mutation_p.V322M	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	322					positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						GGCCATCTCCGTGTCAGAGAT	0.433																																						ENST00000394144.4																			0				breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						c.(964-966)Gtg>Atg		TBC1 domain family, member 23							82.0	74.0	77.0					3																	100016854		2203	4300	6503	SO:0001583	missense	55773					intracellular	Rab GTPase activator activity	g.chr3:100016854G>A	AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.964G>A	3.37:g.100016854G>A	ENSP00000377700:p.Val322Met					TBC1D23_ENST00000475134.1_Missense_Mutation_p.V185M|TBC1D23_ENST00000344949.5_Missense_Mutation_p.V322M|TBC1D23_ENST00000486274.1_3'UTR	p.V322M	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN			9	971	+			322					B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Missense_Mutation	SNP	ENST00000394144.4	37	c.964G>A	CCDS56265.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792460	0.90453	.	.	ENSG00000036054	ENST00000344949;ENST00000394144;ENST00000475134	T;T;T	0.36340	1.27;1.26;1.28	5.62	5.62	0.85841	Rhodanese-like (2);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	M	0.71036	2.16	0.80722	D	1	D;D	0.57257	0.964;0.979	B;P	0.46049	0.306;0.502	T	0.46843	-0.9162	9	.	.	.	.	19.6405	0.95755	0.0:0.0:1.0:0.0	.	322;322	Q9NUY8;Q9NUY8-2	TBC23_HUMAN;.	M	322;322;185	ENSP00000340693:V322M;ENSP00000377700:V322M;ENSP00000418059:V185M	.	V	+	1	0	TBC1D23	101499544	1.000000	0.71417	0.960000	0.40013	0.993000	0.82548	8.955000	0.93058	2.638000	0.89438	0.585000	0.79938	GTG		0.433	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309		3	58	0	0	0	1	0	3	58				
SPEG	10290	broad.mit.edu	37	2	220307861	220307861	+	Intron	SNP	G	G	A			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr2:220307861G>A	ENST00000312358.7	+	2	520				SPEG_ENST00000396698.1_Missense_Mutation_p.R22Q|SPEG_ENST00000396695.2_5'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus						cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCCTTTGGCCGACTCACCCAT	0.587																																						ENST00000396698.1																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(64-66)cGa>cAa		SPEG complex locus							227.0	217.0	220.0					2																	220307861		876	1991	2867	SO:0001627	intron_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220307861G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.389-1514G>A	2.37:g.220307861G>A						SPEG_ENST00000312358.7_Intron|SPEG_ENST00000396695.2_5'UTR	p.R22Q			Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	2	71	+		Renal(207;0.0183)	0					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.65G>A	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378703	0.61735	.	.	ENSG00000072195	ENST00000431523;ENST00000396698	T;T	0.59083	0.8;0.29	4.01	4.01	0.46588	.	.	.	.	.	T	0.69940	0.3167	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74343	-0.3696	6	0.59425	D	0.04	.	14.6899	0.69076	0.0:0.0:1.0:0.0	.	.	.	.	Q	22	ENSP00000410986:R22Q;ENSP00000379926:R22Q	ENSP00000379926:R22Q	R	+	2	0	SPEG	220016105	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.066000	0.89486	1.769000	0.52152	0.313000	0.20887	CGA		0.587	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		130	159	0	0	0	1	0	130	159				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	23	0	0	0	1	0	3	23				
PDP2	57546	broad.mit.edu	37	16	66919031	66919031	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr16:66919031G>A	ENST00000311765.2	+	2	1178	c.844G>A	c.(844-846)Gca>Aca	p.A282T	PDP2_ENST00000568720.1_Intron|RP11-61A14.2_ENST00000561475.1_lincRNA	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	282					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|magnesium-dependent protein serine/threonine phosphatase activity (GO:0004724)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CTTGCACGTGGCAAATGCTGG	0.552																																						ENST00000311765.2																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12						c.(844-846)Gca>Aca		pyruvate dehyrogenase phosphatase catalytic subunit 2							90.0	83.0	85.0					16																	66919031		2200	4300	6500	SO:0001583	missense	57546				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding	g.chr16:66919031G>A	AB037769	CCDS10822.1	16q22.1	2012-04-17			ENSG00000172840	ENSG00000172840		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	30263	protein-coding gene	gene with protein product	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit 2"""	615499				9651365	Standard	NM_020786		Approved	KIAA1348, PPM2C2	uc002eqk.2	Q9P2J9	OTTHUMG00000137512	ENST00000311765.2:c.844G>A	16.37:g.66919031G>A	ENSP00000309548:p.Ala282Thr					PDP2_ENST00000568720.1_Intron	p.A282T	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	2	1178	+		Ovarian(137;0.0563)	282					A8K924	Missense_Mutation	SNP	ENST00000311765.2	37	c.844G>A	CCDS10822.1	.	.	.	.	.	.	.	.	.	.	G	32	5.160546	0.94727	.	.	ENSG00000172840	ENST00000311765	T	0.49139	0.79	5.62	5.62	0.85841	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.80341	0.4605	H	0.96208	3.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85739	0.1336	10	0.72032	D	0.01	-9.6803	20.0274	0.97527	0.0:0.0:1.0:0.0	.	282	Q9P2J9	PDP2_HUMAN	T	282	ENSP00000309548:A282T	ENSP00000309548:A282T	A	+	1	0	PDP2	65476532	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.788000	0.99064	2.812000	0.96745	0.563000	0.77884	GCA		0.552	PDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268831.2	NM_020786		3	104	0	0	0	1	0	3	104				
PCDHB3	56132	broad.mit.edu	37	5	140482593	140482593	+	Missense_Mutation	SNP	C	C	A	rs376214907		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr5:140482593C>A	ENST00000231130.2	+	1	2360	c.2360C>A	c.(2359-2361)cCc>cAc	p.P787H	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	787					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGCAAATCCCAGTTTCAGG	0.453																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(2359-2361)cCc>cAc									108.0	112.0	111.0					5																	140482593		2203	4300	6503	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482593C>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2360C>A	5.37:g.140482593C>A	ENSP00000231130:p.Pro787His						p.P787H	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2360	+			787					B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.2360C>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118179	0.37339	.	.	ENSG00000113205	ENST00000231130	T	0.13778	2.56	3.34	0.258	0.15578	.	.	.	.	.	T	0.19287	0.0463	M	0.87758	2.905	0.09310	N	1	P	0.37158	0.585	B	0.40066	0.318	T	0.26503	-1.0101	9	0.56958	D	0.05	.	1.296	0.02070	0.1566:0.3251:0.3084:0.2098	.	787	Q9Y5E6	PCDB3_HUMAN	H	787	ENSP00000231130:P787H	ENSP00000231130:P787H	P	+	2	0	PCDHB3	140462777	0.001000	0.12720	0.000000	0.03702	0.670000	0.39368	0.808000	0.27154	-0.250000	0.09555	0.491000	0.48974	CCC		0.453	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		7	96	1	0	1.12685e-05	1	1.22275e-05	7	96				
EP300	2033	broad.mit.edu	37	22	41566408	41566408	+	Splice_Site	SNP	A	A	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr22:41566408A>T	ENST00000263253.7	+	27	5505		c.e27-1		RNU6-375P_ENST00000517050.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300						apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|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 type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TTGTATTGTTAGTTACACAAC	0.383			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.e27-1		E1A binding protein p300							109.0	99.0	102.0					22																	41566408		2203	4300	6503	SO:0001630	splice_region_variant	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41566408A>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4287-1A>T	22.37:g.41566408A>T						RP1-85F18.6_ENST00000415054.1_RNA		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			27	5505	+								B1AKC2	Splice_Site	SNP	ENST00000263253.7	37		CCDS14010.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.946030	0.73672	.	.	ENSG00000100393	ENST00000263253	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2125	0.48806	0.8466:0.1534:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EP300	39896354	1.000000	0.71417	0.662000	0.29724	0.510000	0.34073	9.237000	0.95368	2.121000	0.65114	0.533000	0.62120	.		0.383	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	Intron	4	117	0	0	0	1	0	4	117				
HMGN2P46	283651	broad.mit.edu	37	15	45848217	45848217	+	lincRNA	SNP	A	A	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr15:45848217A>G	ENST00000557965.1	+	0	0				HMGN2P46_ENST00000409454.1_RNA																							ATAAAAATGCAGATTTTGTTT	0.313																																						ENST00000409454.1																			0																				15.0	16.0	16.0					15																	45848217		1570	3095	4665			283651							g.chr15:45848217A>G																													15.37:g.45848217A>G														0	1212	+									RNA	SNP	ENST00000557965.1	37																																																																																						0.313	RP11-96O20.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000416553.1			3	41	0	0	0	1	0	3	41				
ANO10	55129	broad.mit.edu	37	3	43642047	43642047	+	Silent	SNP	A	A	G			TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr3:43642047A>G	ENST00000292246.3	-	3	336	c.166T>C	c.(166-168)Tta>Cta	p.L56L	ANO10_ENST00000396091.3_Intron|ANO10_ENST00000350459.4_Silent_p.L56L|ANO10_ENST00000451430.2_Intron|ANO10_ENST00000414522.2_Silent_p.L56L	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	56					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						TATTTATTTAACAATGGTCTA	0.318																																						ENST00000292246.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						c.(166-168)Tta>Cta		anoctamin 10							84.0	83.0	83.0					3																	43642047		2203	4297	6500	SO:0001819	synonymous_variant	55129				cell death	chloride channel complex	chloride channel activity	g.chr3:43642047A>G	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.166T>C	3.37:g.43642047A>G						ANO10_ENST00000414522.2_Silent_p.L56L|ANO10_ENST00000451430.2_Intron|ANO10_ENST00000350459.4_Silent_p.L56L|ANO10_ENST00000396091.3_Intron	p.L56L	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN			3	336	-			56					A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Silent	SNP	ENST00000292246.3	37	c.166T>C	CCDS2710.2																																																																																				0.318	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2	NM_018075		5	186	0	0	0	0.184627	0	5	186				
SOS2	6655	broad.mit.edu	37	14	50626628	50626628	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr14:50626628T>C	ENST00000216373.5	-	10	1647	c.1373A>G	c.(1372-1374)cAt>cGt	p.H458R	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.H425R	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	458	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CAGAAAAATATGCCGTTCATG	0.388																																						ENST00000216373.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39						c.(1372-1374)cAt>cGt		son of sevenless homolog 2 (Drosophila)							185.0	175.0	178.0					14																	50626628		2203	4300	6503	SO:0001583	missense	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50626628T>C	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.1373A>G	14.37:g.50626628T>C	ENSP00000216373:p.His458Arg					SOS2_ENST00000543680.1_Missense_Mutation_p.H425R|SOS2_ENST00000555794.1_5'UTR	p.H458R	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN			10	1647	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		458			PH.		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.1373A>G	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	T	12.99	2.102691	0.37145	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.75367	-0.93;-0.93	5.56	5.56	0.83823	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.70055	0.3180	L	0.54908	1.71	0.80722	D	1	B;B;B	0.24651	0.025;0.108;0.028	B;B;B	0.23852	0.035;0.049;0.037	T	0.65734	-0.6096	10	0.24483	T	0.36	.	15.7129	0.77644	0.0:0.0:0.0:1.0	.	425;488;458	B7ZKT6;Q59G32;Q07890	.;.;SOS2_HUMAN	R	458;425	ENSP00000216373:H458R;ENSP00000445328:H425R	ENSP00000216373:H458R	H	-	2	0	SOS2	49696378	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.964000	0.87933	2.111000	0.64477	0.528000	0.53228	CAT		0.388	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			154	204	0	0	0	0.139131	0	154	204				
TRGV5	6978	broad.mit.edu	37	7	38389495	38389495	+	RNA	SNP	C	C	A	rs2012300	byFrequency	TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr7:38389495C>A	ENST00000390344.2	-	0	128									T cell receptor gamma variable 5																		CTTAAAACTCCGGCCCCACTC	0.542													A|||	752	0.15016	0.1755	0.2435	5008	,	,		15107	0.0794		0.1481	False		,,,				2504	0.1247					ENST00000390344.2																			0																				42.0	43.0	43.0					7																	38389495		689	1570	2259			6978							g.chr7:38389495C>A	M36286		7p14	2012-02-07				ENSG00000211697		"""T cell receptors / TRG locus"""	12290	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V5"""			TCRGV5		2902186, 2969332	Standard	NG_001336		Approved	V1S5			OTTHUMG00000155101		7.37:g.38389495C>A														0	128	-									RNA	SNP	ENST00000390344.2	37																																																																																						0.542	TRGV5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338407.4	NG_001336		5	13	1	0	3.59834e-05	0.217242	4.94771e-05	5	13				
LZTS1	11178	broad.mit.edu	37	8	20107349	20107349	+	Missense_Mutation	SNP	G	G	A	rs146878421		TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr8:20107349G>A	ENST00000381569.1	-	4	2032	c.1675C>T	c.(1675-1677)Cgc>Tgc	p.R559C	LZTS1_ENST00000522290.1_Missense_Mutation_p.R500C|LZTS1_ENST00000265801.6_Missense_Mutation_p.R559C			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	559					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|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, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TTCTCCAGGCGCTGGTTCCGC	0.617																																						ENST00000381569.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1675-1677)Cgc>Tgc		leucine zipper, putative tumor suppressor 1			CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	99.0	100.0	99.0		1675	3.0	1.0	8	dbSNP_134	99	0,8600		0,0,4300	no	missense	LZTS1	NM_021020.2	180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	559/597	20107349	2,13004	2203	4300	6503	SO:0001583	missense	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20107349G>A	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1675C>T	8.37:g.20107349G>A	ENSP00000370981:p.Arg559Cys					LZTS1_ENST00000522290.1_Missense_Mutation_p.R500C|LZTS1_ENST00000265801.6_Missense_Mutation_p.R559C	p.R559C			Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	4	2032	-			559					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	c.1675C>T	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	g	18.29	3.590508	0.66219	4.54E-4	0.0	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.45668	0.89;0.89;0.89	5.06	3.04	0.35103	.	0.769309	0.12807	N	0.437503	T	0.28995	0.0720	N	0.12182	0.205	0.39023	D	0.959772	D;B	0.64830	0.994;0.068	P;B	0.49953	0.627;0.012	T	0.09862	-1.0655	10	0.41790	T	0.15	-24.3382	4.2396	0.10642	0.094:0.1261:0.5852:0.1947	.	500;559	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	C	559;559;500;536	ENSP00000370981:R559C;ENSP00000265801:R559C;ENSP00000429263:R500C	ENSP00000265801:R559C	R	-	1	0	LZTS1	20151629	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.447000	0.44917	1.126000	0.42016	0.556000	0.70494	CGC		0.617	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		15	220	0	0	0	0.175082	0	15	220				
MTMR3	8897	broad.mit.edu	37	22	30384486	30384486	+	Missense_Mutation	SNP	A	A	G	rs541335763	byFrequency	TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr22:30384486A>G	ENST00000401950.2	+	6	570	c.228A>G	c.(226-228)atA>atG	p.I76M	MTMR3_ENST00000323630.5_5'UTR|MTMR3_ENST00000351488.3_Missense_Mutation_p.I76M|MTMR3_ENST00000406629.1_Missense_Mutation_p.I76M|MTMR3_ENST00000415511.1_Intron|MTMR3_ENST00000333027.3_Missense_Mutation_p.I76M	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	76					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TACAGCTTATAGAAAGTGTTG	0.358																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(226-228)atA>atG		myotubularin related protein 3							140.0	132.0	134.0					22																	30384486		2202	4300	6502	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30384486A>G	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.228A>G	22.37:g.30384486A>G	ENSP00000384651:p.Ile76Met					MTMR3_ENST00000415511.1_Intron|MTMR3_ENST00000351488.3_Missense_Mutation_p.I76M|MTMR3_ENST00000323630.5_5'UTR|MTMR3_ENST00000406629.1_Missense_Mutation_p.I76M|MTMR3_ENST00000401950.2_Missense_Mutation_p.I76M	p.I76M	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		6	556	+			76					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.228A>G	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	A	16.78	3.216789	0.58452	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000445401;ENST00000351488;ENST00000406629	D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48	5.84	3.65	0.41850	.	0.084898	0.85682	D	0.000000	D	0.88698	0.6507	L	0.48174	1.505	0.80722	D	1	P;P;P	0.51653	0.851;0.947;0.851	P;P;P	0.55615	0.58;0.78;0.58	D	0.86003	0.1496	10	0.56958	D	0.05	.	6.9832	0.24713	0.5173:0.1248:0.0:0.3578	.	76;76;76	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	M	76	ENSP00000384651:I76M;ENSP00000331649:I76M;ENSP00000409063:I76M;ENSP00000307271:I76M;ENSP00000384077:I76M	ENSP00000331649:I76M	I	+	3	3	MTMR3	28714486	0.990000	0.36364	1.000000	0.80357	0.999000	0.98932	0.312000	0.19397	0.414000	0.25790	0.528000	0.53228	ATA		0.358	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		66	93	0	0	0	0.139131	0	66	93				
BMP10	27302	broad.mit.edu	37	2	69093688	69093688	+	Missense_Mutation	SNP	G	G	A	rs141935259		TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr2:69093688G>A	ENST00000295379.1	-	2	508	c.350C>T	c.(349-351)cCg>cTg	p.P117L		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	117					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)	p.P117L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						AAAACTGACCGGCTGGGAAAA	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		20428	0.001		0.0	False		,,,				2504	0.0					ENST00000295379.1																			1	Substitution - Missense(1)	p.P117L(1)	endometrium(1)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						c.(349-351)cCg>cTg		bone morphogenetic protein 10		G	LEU/PRO	1,4401		0,1,2200	28.0	30.0	29.0		350	5.9	1.0	2	dbSNP_134	29	0,8592		0,0,4296	yes	missense	BMP10	NM_014482.1	98	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	benign	117/425	69093688	1,12993	2201	4296	6497	SO:0001583	missense	27302				activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding	g.chr2:69093688G>A	AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.350C>T	2.37:g.69093688G>A	ENSP00000295379:p.Pro117Leu						p.P117L	NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN			2	508	-			117					Q53R17|Q6NTE0	Missense_Mutation	SNP	ENST00000295379.1	37	c.350C>T	CCDS1890.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.49	1.653907	0.29425	2.27E-4	0.0	ENSG00000163217	ENST00000295379	T	0.73363	-0.74	5.94	5.94	0.96194	Transforming growth factor-beta, N-terminal (1);	0.254934	0.42682	D	0.000674	T	0.69142	0.3078	L	0.50333	1.59	0.48452	D	0.999655	B	0.28026	0.198	B	0.28784	0.094	T	0.64732	-0.6338	10	0.07990	T	0.79	.	19.3434	0.94355	0.0:0.0:1.0:0.0	.	117	O95393	BMP10_HUMAN	L	117	ENSP00000295379:P117L	ENSP00000295379:P117L	P	-	2	0	BMP10	68947192	0.993000	0.37304	0.994000	0.49952	0.632000	0.37999	2.843000	0.48238	2.812000	0.96745	0.557000	0.71058	CCG		0.428	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251768.1	NM_014482		32	33	0	0	0	0.153744	0	32	33				
HS3ST2	9956	broad.mit.edu	37	16	22826356	22826356	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr16:22826356C>T	ENST00000261374.3	+	1	859	c.425C>T	c.(424-426)gCc>gTc	p.A142V		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	142					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GACGTGCGGGCCTTGGGCACG	0.647																																						ENST00000261374.3																			0				breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19						c.(424-426)gCc>gTc		heparan sulfate (glucosamine) 3-O-sulfotransferase 2							19.0	24.0	22.0					16																	22826356		2163	4254	6417	SO:0001583	missense	9956					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	g.chr16:22826356C>T	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.425C>T	16.37:g.22826356C>T	ENSP00000261374:p.Ala142Val						p.A142V	NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN		GBM - Glioblastoma multiforme(48;0.0299)	1	859	+			142					Q52LZ1	Missense_Mutation	SNP	ENST00000261374.3	37	c.425C>T	CCDS10606.1	.	.	.	.	.	.	.	.	.	.	C	34	5.322799	0.95708	.	.	ENSG00000122254	ENST00000261374;ENST00000540146	D	0.83419	-1.72	5.12	5.12	0.69794	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.89887	0.6845	M	0.67517	2.055	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.90118	0.4197	10	0.51188	T	0.08	.	17.1279	0.86719	0.0:1.0:0.0:0.0	.	142	Q9Y278	HS3S2_HUMAN	V	142;150	ENSP00000261374:A142V	ENSP00000261374:A142V	A	+	2	0	HS3ST2	22733857	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.308000	0.78929	2.363000	0.80096	0.655000	0.94253	GCC		0.647	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		22	35	0	0	0	0.076483	0	22	35				
PKD1L2	114780	broad.mit.edu	37	16	81190482	81190482	+	RNA	SNP	G	G	A	rs375515044		TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr16:81190482G>A	ENST00000525539.1	-	0	4106				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GATCCTGAGCGTCCTTCCTCC	0.547													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19594	0.0		0.0	False		,,,				2504	0.0					ENST00000533478.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2		G		1,4339		0,1,2169	57.0	59.0	59.0		4107	-5.2	0.2	16		59	0,8538		0,0,4269	no	coding-synonymous	PKD1L2	NM_052892.3		0,1,6438	AA,AG,GG		0.0,0.023,0.0078		1369/2460	81190482	1,12877	2170	4269	6439			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81190482G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81190482G>A						PKD1L2_ENST00000525539.1_RNA		NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN			0	2162	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000525539.1	37																																																																																						0.547	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			30	43	0	0	0	0.153744	0	30	43				
SPEG	10290	broad.mit.edu	37	2	220307861	220307861	+	Intron	SNP	G	G	A			TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr2:220307861G>A	ENST00000312358.7	+	2	520				SPEG_ENST00000396698.1_Missense_Mutation_p.R22Q|SPEG_ENST00000396695.2_5'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus						cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCCTTTGGCCGACTCACCCAT	0.587																																						ENST00000396698.1																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(64-66)cGa>cAa		SPEG complex locus							227.0	217.0	220.0					2																	220307861		876	1991	2867	SO:0001627	intron_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220307861G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.389-1514G>A	2.37:g.220307861G>A						SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000312358.7_Intron	p.R22Q			Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	2	71	+		Renal(207;0.0183)	0					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.65G>A	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378703	0.61735	.	.	ENSG00000072195	ENST00000431523;ENST00000396698	T;T	0.59083	0.8;0.29	4.01	4.01	0.46588	.	.	.	.	.	T	0.69940	0.3167	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74343	-0.3696	6	0.59425	D	0.04	.	14.6899	0.69076	0.0:0.0:1.0:0.0	.	.	.	.	Q	22	ENSP00000410986:R22Q;ENSP00000379926:R22Q	ENSP00000379926:R22Q	R	+	2	0	SPEG	220016105	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.066000	0.89486	1.769000	0.52152	0.313000	0.20887	CGA		0.587	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		147	248	0	0	0	0.139131	0	147	248				
CHRM4	1132	broad.mit.edu	37	11	46407118	46407118	+	Silent	SNP	C	C	T	rs201888287		TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr11:46407118C>T	ENST00000433765.2	-	1	989	c.990G>A	c.(988-990)ccG>ccA	p.P330P		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	330					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TGAGGGCCCGCGGCTGCAGGG	0.637																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)	ENST00000433765.2																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20						c.(988-990)ccG>ccA		cholinergic receptor, muscarinic 4	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)			1,4179		0,1,2089	127.0	145.0	139.0		990	-5.1	0.6	11		139	1,8407		0,1,4203	no	coding-synonymous	CHRM4	NM_000741.2		0,2,6292	TT,TC,CC		0.0119,0.0239,0.0159		330/480	46407118	2,12586	2090	4204	6294	SO:0001819	synonymous_variant	1132				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	g.chr11:46407118C>T	M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1953	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 4"""	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.990G>A	11.37:g.46407118C>T							p.P330P	NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	1	989	-			330					B2RPP4|Q0VD60|Q4VBK7	Silent	SNP	ENST00000433765.2	37	c.990G>A	CCDS44581.1																																																																																				0.637	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	NM_000741		11	313	0	0	0	0.080935	0	11	313				
FOXO3	2309	broad.mit.edu	37	6	108984910	108984910	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr6:108984910C>T	ENST00000343882.6	+	3	1178	c.874C>T	c.(874-876)Cct>Tct	p.P292S	FOXO3_ENST00000406360.1_Missense_Mutation_p.P292S|FOXO3_ENST00000540898.1_Missense_Mutation_p.P72S	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	292				PGSPTSRSSDELDAWTDFRSRTNSNASTVSGRLSPIMAS -> AWQPHVNAAVMSWMRGRTSVHAPILTPAQSVAACRPSW QV (in Ref. 6; CAA04860). {ECO:0000305}.	antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CTCCAAGTGGCCTGGCAGCCC	0.622																																						ENST00000406360.1																			0				central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(874-876)Cct>Tct		forkhead box O3							24.0	26.0	26.0					6																	108984910		2202	4298	6500	SO:0001583	missense	2309				antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 factor binding	g.chr6:108984910C>T	AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"""Forkhead boxes"""	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.874C>T	6.37:g.108984910C>T	ENSP00000339527:p.Pro292Ser					FOXO3_ENST00000343882.6_Missense_Mutation_p.P292S|FOXO3_ENST00000540898.1_Missense_Mutation_p.P72S	p.P292S	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)	2	1217	+		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)	292	PGSPTSRSSDELDAWTDFRSRTNSNASTVSGRLSPIMAS -> AWQPHVNAAVMSWMRGRTSVHAPILTPAQSVAACRPSW QV (in Ref. 5; CAA04860).				B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Missense_Mutation	SNP	ENST00000343882.6	37	c.874C>T	CCDS5068.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370818	0.24771	.	.	ENSG00000118689	ENST00000343882;ENST00000406360;ENST00000540258;ENST00000540898	D;D	0.91180	-2.8;-2.8	5.84	5.84	0.93424	.	0.096214	0.64402	D	0.000001	D	0.85496	0.5710	L	0.53780	1.695	0.80722	D	1	B	0.31837	0.342	B	0.28638	0.092	D	0.83722	0.0193	10	0.40728	T	0.16	-4.763	20.1432	0.98067	0.0:1.0:0.0:0.0	.	292	O43524	FOXO3_HUMAN	S	292;292;72;72	ENSP00000339527:P292S;ENSP00000385824:P292S	ENSP00000339527:P292S	P	+	1	0	FOXO3	109091603	1.000000	0.71417	0.999000	0.59377	0.021000	0.10359	4.567000	0.60850	2.769000	0.95229	0.561000	0.74099	CCT		0.622	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2			4	44	0	0	0	0.150653	0	4	44				
PCDHB3	56132	broad.mit.edu	37	5	140482593	140482593	+	Missense_Mutation	SNP	C	C	A	rs376214907		TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr5:140482593C>A	ENST00000231130.2	+	1	2360	c.2360C>A	c.(2359-2361)cCc>cAc	p.P787H	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	787					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGCAAATCCCAGTTTCAGG	0.453																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(2359-2361)cCc>cAc									108.0	112.0	111.0					5																	140482593		2203	4300	6503	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482593C>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2360C>A	5.37:g.140482593C>A	ENSP00000231130:p.Pro787His						p.P787H	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2360	+			787					B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.2360C>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118179	0.37339	.	.	ENSG00000113205	ENST00000231130	T	0.13778	2.56	3.34	0.258	0.15578	.	.	.	.	.	T	0.19287	0.0463	M	0.87758	2.905	0.09310	N	1	P	0.37158	0.585	B	0.40066	0.318	T	0.26503	-1.0101	9	0.56958	D	0.05	.	1.296	0.02070	0.1566:0.3251:0.3084:0.2098	.	787	Q9Y5E6	PCDB3_HUMAN	H	787	ENSP00000231130:P787H	ENSP00000231130:P787H	P	+	2	0	PCDHB3	140462777	0.001000	0.12720	0.000000	0.03702	0.670000	0.39368	0.808000	0.27154	-0.250000	0.09555	0.491000	0.48974	CCC		0.453	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		14	196	1	0	2.23348e-06	0.146539	3.35023e-06	14	196				
SSU72	29101	broad.mit.edu	37	1	1500119	1500120	+	Intron	INS	-	-	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr1:1500119_1500120insG	ENST00000291386.3	-	2	536				SSU72_ENST00000359060.4_Frame_Shift_Ins_p.P86fs	NM_014188.2	NP_054907.1	Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)						dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|mRNA polyadenylation (GO:0006378)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)			large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GAGGACCACACGGGGGGTTTTT	0.505																																						ENST00000359060.4																			0				large_intestine(2)|lung(5)	7						c.(256-258)ctgfs		SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)																																				SO:0001627	intron_variant	29101				mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity	g.chr1:1500119_1500120insG	AJ276409	CCDS32.1	1p36	2010-03-24	2006-04-04		ENSG00000160075	ENSG00000160075			25016	protein-coding gene	gene with protein product			"""Ssu72 RNA polymerase II CTD phosphatase homolog (yeast)"""			15125841, 15659578	Standard	NM_014188		Approved	HSPC182	uc001agd.3	Q9NP77	OTTHUMG00000000576	ENST00000291386.3:c.224+32->C	1.37:g.1500125_1500125dupG						SSU72_ENST00000291386.3_Intron	p.L86fs			Q9NP77	SSU72_HUMAN		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	2	283_284	-	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	0					Q9BZS6|Q9H933	Frame_Shift_Ins	INS	ENST00000291386.3	37	c.257_258insC	CCDS32.1																																																																																				0.505	SSU72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001366.1	NM_014188		7	304						7	304	---	---	---	---
AGO1	26523	broad.mit.edu	37	1	36354044	36354045	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr1:36354044_36354045insC	ENST00000373204.4	+	2	255_256	c.42_43insC	c.(43-45)cccfs	p.P15fs	AGO1_ENST00000373206.1_5'UTR	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	15					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										GCGCTTACCTGCCCCCCCTGCA	0.569																																						ENST00000373204.4																			0											c.(40-45)ctccccfs		argonaute RISC catalytic component 1																																				SO:0001589	frameshift_variant	26523							g.chr1:36354044_36354045insC	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.49dupC	1.37:g.36354051_36354051dupC	ENSP00000362300:p.Pro15fs					AGO1_ENST00000373206.1_5'UTR	p.LP14fs	NM_012199.2	NP_036331.1					2	255_256	+								Q5TA57|Q6P4S0	Frame_Shift_Ins	INS	ENST00000373204.4	37	c.42_43insC	CCDS398.1																																																																																				0.569	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			8	178						8	178	---	---	---	---
ZMYND12	84217	broad.mit.edu	37	1	42898878	42898879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr1:42898878_42898879insG	ENST00000372565.3	-	7	1179_1180	c.910_911insC	c.(910-912)caafs	p.Q304fs	ZMYND12_ENST00000475426.1_5'UTR|ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.Q194fs	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	304						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATGGTTTTTTGGGGGGCTTTG	0.411																																						ENST00000372565.3																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17						c.(910-912)aaafs		zinc finger, MYND-type containing 12																																				SO:0001589	frameshift_variant	84217					intracellular	zinc ion binding	g.chr1:42898878_42898879insG	AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.911dupC	1.37:g.42898884_42898884dupG	ENSP00000361646:p.Gln304fs					ZMYND12_ENST00000475426.1_5'UTR|ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.K194fs	p.K304fs	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN			7	1179_1180	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	304					Q5VUS6|Q8TC87|Q96M51	Frame_Shift_Ins	INS	ENST00000372565.3	37	c.910_911insC	CCDS467.1																																																																																				0.411	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257		8	357						8	357	---	---	---	---
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G	rs371885641		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)cccactfs	p.T118fs	FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.T118fs|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594																																						ENST00000302250.2																			1	Deletion - Frameshift(1)	p.T118fs*43(1)	ovary(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(349-354)ccctatfs		family with sequence similarity 151, member A			,	13,4253		0,13,2120					,	3.2	0.2			92	8,8246		0,8,4119	no	frameshift,intron	ACOT11,FAM151A	NM_176782.2,NM_015547.3	,	0,21,6239	A1A1,A1R,RR		0.0969,0.3047,0.1677	,	,		21,12499				SO:0001589	frameshift_variant	338094					integral to membrane		g.chr1:55081756_55081757insG	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.352dupC	1.37:g.55081763_55081763dupG	ENSP00000306888:p.Thr118fs					ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs	p.Y118fs	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN			3	511_512	-			118					Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Frame_Shift_Ins	INS	ENST00000302250.2	37	c.351_352insC	CCDS594.1																																																																																				0.594	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		9	237						9	237	---	---	---	---
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779|rs183693555	byFrequency	TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr1:59812016_59812017insG	ENST00000303721.7	+	4	585_586	c.411_412insG	c.(412-414)gggfs	p.G138fs	FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371218.4_Frame_Shift_Ins_p.G138fs|FGGY_ENST00000371212.1_Intron	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	138					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.5																																						ENST00000371218.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(409-414)gtggggfs		FGGY carbohydrate kinase domain containing																																				SO:0001589	frameshift_variant	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:59812016_59812017insG		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.418dupG	1.37:g.59812023_59812023dupG	ENSP00000305922:p.Gly138fs					FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs|FGGY_ENST00000371212.1_Intron|FGGY_ENST00000474476.1_3'UTR	p.VG137fs	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN			4	595_596	+	all_cancers(7;7.36e-05)		137					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Frame_Shift_Ins	INS	ENST00000303721.7	37	c.411_412insG	CCDS611.2																																																																																				0.500	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		16	155						16	155	---	---	---	---
GBP7	388646	broad.mit.edu	37	1	89613321	89613322	+	Frame_Shift_Ins	INS	-	-	C	rs138127555|rs185821757		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr1:89613321_89613322insC	ENST00000294671.2	-	8	1431_1432	c.1293_1294insG	c.(1291-1296)gggcacfs	p.H432fs		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	432						membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGAA	0.436																																						ENST00000294671.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1291-1296)ggacaafs		guanylate binding protein 7																																				SO:0001589	frameshift_variant	388646					integral to membrane	GTP binding|GTPase activity	g.chr1:89613321_89613322insC	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.1294dupG	1.37:g.89613328_89613328dupC	ENSP00000294671:p.His432fs						p.Q432fs	NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN		all cancers(265;0.00835)|Epithelial(280;0.0322)	8	1431_1432	-		Lung NSC(277;0.0908)	432						Frame_Shift_Ins	INS	ENST00000294671.2	37	c.1293_1294insG	CCDS720.1																																																																																				0.436	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		11	160						11	160	---	---	---	---
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr1:92511121_92511122insG	ENST00000370383.4	+	4	606_607	c.508_509insG	c.(508-510)tggfs	p.W170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGCCATGACTGGGGGGGCATG	0.386																																					GBM(140;473 1857 5172 22066 49719)	ENST00000370383.4																			0				central_nervous_system(1)|large_intestine(3)|lung(8)	12						c.(508-510)gggfs		epoxide hydrolase 4																																				SO:0001589	frameshift_variant	253152					integral to membrane	hydrolase activity	g.chr1:92511121_92511122insG	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.515dupG	1.37:g.92511128_92511128dupG	ENSP00000359410:p.Trp170fs						p.G170fs	NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN			4	606_607	+			170					Q8NCC6	Frame_Shift_Ins	INS	ENST00000370383.4	37	c.508_509insG	CCDS736.1																																																																																				0.386	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567		20	258						20	258	---	---	---	---
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C	rs552970171		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)gccfs	p.A352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505																																						ENST00000369732.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(1054-1056)catfs		oviductal glycoprotein 1, 120kDa																																				SO:0001589	frameshift_variant	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111959046_111959047insC	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1055dupG	1.37:g.111959053_111959053dupC	ENSP00000358747:p.Ala352fs					OVGP1_ENST00000540696.1_3'UTR	p.H352fs	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	10	1109_1110	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	352					A0AV19|B9EGE1|Q15841	Frame_Shift_Ins	INS	ENST00000369732.3	37	c.1054_1055insG	CCDS834.1																																																																																				0.505	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		26	349						26	349	---	---	---	---
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843	byFrequency	TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1627-1629)cccfs	p.P543fs	ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.P412fs|ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.P400fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	543					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCAGCCAGAACCCCCCCAGGA	0.554																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1624-1629)gaccccfs		integrin, alpha 10																																				SO:0001589	frameshift_variant	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145534121_145534122insC	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1633dupC	1.37:g.145534128_145534128dupC	ENSP00000358310:p.Pro543fs					ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs|ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs	p.DP542fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			14	1801_1802	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		542					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Frame_Shift_Ins	INS	ENST00000369304.3	37	c.1626_1627insC	CCDS918.1																																																																																				0.554	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		18	329						18	329	---	---	---	---
PIAS3	10401	broad.mit.edu	37	1	145585532	145585533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr1:145585532_145585533insG	ENST00000393045.2	+	14	1887_1888	c.1797_1798insG	c.(1798-1800)gggfs	p.G600fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.G565fs|NUDT17_ENST00000444015.2_5'Flank	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	600					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGTGGCCCCTGGGGGGGCCTT	0.663																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(1795-1800)ccggggfs		protein inhibitor of activated STAT, 3				11,4249		0,11,2119						4.1	1.0			46	12,8224		0,12,4106	no	frameshift	PIAS3	NM_006099.3		0,23,6225	A1A1,A1R,RR		0.1457,0.2582,0.1841				23,12473				SO:0001589	frameshift_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145585532_145585533insG	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1804dupG	1.37:g.145585539_145585539dupG	ENSP00000376765:p.Gly600fs					PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.PG564fs	p.PG599fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN			14	1887_1888	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		599					Q9UFI3	Frame_Shift_Ins	INS	ENST00000393045.2	37	c.1797_1798insG	CCDS920.2																																																																																				0.663	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		8	108						8	108	---	---	---	---
SCAMP3	10067	broad.mit.edu	37	1	155230128	155230129	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr1:155230128_155230129insC	ENST00000302631.3	-	4	487_488	c.380_381insG	c.(379-381)ggcfs	p.G127fs	SCAMP3_ENST00000472397.1_5'UTR|CLK2_ENST00000497188.1_5'Flank|SCAMP3_ENST00000355379.3_Frame_Shift_Ins_p.G101fs	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	127					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|response to retinoic acid (GO:0032526)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TACTAGCTGTGCCCCCCAGGGC	0.589																																						ENST00000355379.3																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19						c.(301-303)gacfs		secretory carrier membrane protein 3																																				SO:0001589	frameshift_variant	10067				post-Golgi vesicle-mediated transport|protein transport	integral to membrane		g.chr1:155230128_155230129insC	AF005039	CCDS1105.1, CCDS1106.1	1q21	2013-02-21			ENSG00000116521	ENSG00000116521		"""Secretory carrier membrane proteins"""	10565	protein-coding gene	gene with protein product	"""Propin 1"""	606913		C1orf3		9331372, 9658162	Standard	NM_005698		Approved		uc001fjs.3	O14828	OTTHUMG00000035874	ENST00000302631.3:c.381dupG	1.37:g.155230134_155230134dupC	ENSP00000307275:p.Gly127fs					SCAMP3_ENST00000302631.3_Frame_Shift_Ins_p.D127fs|SCAMP3_ENST00000472397.1_5'UTR	p.D101fs	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		3	580_581	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		127					A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	Frame_Shift_Ins	INS	ENST00000302631.3	37	c.302_303insG	CCDS1105.1																																																																																				0.589	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087399.1	NM_005698		9	249						9	249	---	---	---	---
NES	10763	broad.mit.edu	37	1	156642803	156642804	+	Frame_Shift_Ins	INS	-	-	G	rs372020167		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr1:156642803_156642804insG	ENST00000368223.3	-	4	1308_1309	c.1176_1177insC	c.(1174-1179)cccacafs	p.T393fs		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	393	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCTGAGGTGTGGGGGGGATGG	0.594																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(1174-1179)cccaccfs		nestin																																				SO:0001589	frameshift_variant	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156642803_156642804insG	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1177dupC	1.37:g.156642810_156642810dupG	ENSP00000357206:p.Thr393fs						p.T393fs	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	1308_1309	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		393			Tail.		O00552|Q3LIF5|Q5SYZ6	Frame_Shift_Ins	INS	ENST00000368223.3	37	c.1176_1177insC	CCDS1151.1																																																																																				0.594	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		7	119						7	119	---	---	---	---
MRPL24	79590	broad.mit.edu	37	1	156708444	156708445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr1:156708444_156708445insG	ENST00000361531.2	-	2	188_189	c.52_53insC	c.(52-54)catfs	p.H18fs	MRPL24_ENST00000478899.1_5'Flank|MRPL24_ENST00000368211.4_Frame_Shift_Ins_p.H18fs			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	18					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATAGCGGTAATGGGGGGGCAGA	0.574																																						ENST00000361531.2																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(52-54)ttafs		mitochondrial ribosomal protein L24																																				SO:0001589	frameshift_variant	79590				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr1:156708444_156708445insG	AB051341	CCDS1155.1	1q23.1	2012-11-14			ENSG00000143314	ENSG00000143314		"""Mitochondrial ribosomal proteins / large subunits"""	14037	protein-coding gene	gene with protein product		611836					Standard	NM_145729		Approved	MRP-L18	uc001fpx.1	Q96A35	OTTHUMG00000041296	ENST00000361531.2:c.53dupC	1.37:g.156708451_156708451dupG	ENSP00000354525:p.His18fs					MRPL24_ENST00000368211.4_Frame_Shift_Ins_p.L18fs	p.L18fs			Q96A35	RM24_HUMAN			2	188_189	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		18					D3DVC8|Q53G65|Q53HT0|Q5SYZ9|Q5SZ00|Q5SZ02|Q96Q70|Q9H7G3	Frame_Shift_Ins	INS	ENST00000361531.2	37	c.52_53insC	CCDS1155.1																																																																																				0.574	MRPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098955.1	NM_145729		8	121						8	121	---	---	---	---
KCNJ10	3766	broad.mit.edu	37	1	160012017	160012018	+	Frame_Shift_Ins	INS	-	-	G	rs372156619|rs561081191		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr1:160012017_160012018insG	ENST00000368089.3	-	2	531_532	c.305_306insC	c.(304-306)ccgfs	p.P102fs	KCNJ10_ENST00000509700.1_5'UTR	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	102					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	TGTGGTTGGCCGGGGGGTCCAG	0.584																																					GBM(167;1368 2014 14817 36425 43215)	ENST00000368089.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17						c.(304-306)cgcfs		potassium inwardly-rectifying channel, subfamily J, member 10																																				SO:0001589	frameshift_variant	3766					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity	g.chr1:160012017_160012018insG	U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.306dupC	1.37:g.160012023_160012023dupG	ENSP00000357068:p.Pro102fs					KCNJ10_ENST00000509700.1_5'UTR	p.R102fs	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	531_532	-	all_hematologic(112;0.093)		102					A3KME7|Q5VUT9|Q8N4I7|Q92808	Frame_Shift_Ins	INS	ENST00000368089.3	37	c.305_306insC	CCDS1193.1																																																																																				0.584	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060629.1	NM_002241		7	306						7	306	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176762723	176762724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr1:176762723_176762724insC	ENST00000367662.3	+	20	6212_6213	c.5048_5049insC	c.(5047-5052)atccccfs	p.IP1683fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1683	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGTGTGTAATCCCCCCCAGTG	0.47																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(5047-5049)accfs		pappalysin 2																																				SO:0001589	frameshift_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176762723_176762724insC	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.5055dupC	1.37:g.176762730_176762730dupC	ENSP00000356634:p.Ile1683fs						p.T1683fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			20	6212_6213	+			1683			Sushi 5.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Frame_Shift_Ins	INS	ENST00000367662.3	37	c.5048_5049insC	CCDS41438.1																																																																																				0.470	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			12	307						12	307	---	---	---	---
FAM129A	116496	broad.mit.edu	37	1	184764537	184764538	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr1:184764537_184764538insC	ENST00000367511.3	-	14	2553_2554	c.2360_2361insG	c.(2359-2361)ggafs	p.G787fs	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	787	Glu-rich.				negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CCTCTGGAAATCCCCCCAACTC	0.668																																						ENST00000367511.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(2359-2361)gttfs		family with sequence similarity 129, member A																																				SO:0001589	frameshift_variant	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184764537_184764538insC	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.2361dupG	1.37:g.184764543_184764543dupC	ENSP00000356481:p.Gly787fs					FAM129A_ENST00000487074.1_5'UTR	p.V787fs	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN			14	2553_2554	-			787			Glu-rich.		Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Frame_Shift_Ins	INS	ENST00000367511.3	37	c.2360_2361insG	CCDS1364.1																																																																																				0.668	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			7	398						7	398	---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201046125	201046126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr1:201046125_201046126insC	ENST00000362061.3	-	12	1975_1976	c.1749_1750insG	c.(1747-1752)gggaggfs	p.R584fs	CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.R584fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	584					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGTCATACCTCCCCCCAAAGA	0.574																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1747-1752)ggggtafs		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)																																			SO:0001589	frameshift_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201046125_201046126insC	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1750dupG	1.37:g.201046131_201046131dupC	ENSP00000355192:p.Arg584fs					CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.V584fs	p.V584fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			12	1975_1976	-			584					A4IF51|B1ALM2|Q12896|Q13934	Frame_Shift_Ins	INS	ENST00000362061.3	37	c.1749_1750insG	CCDS1407.1																																																																																				0.574	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		7	295						7	295	---	---	---	---
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-258)atccccfs	p.IP85fs	ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.IP85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	85					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACAACGTGATCCCCCCCAAAA	0.48																																						ENST00000357681.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.(253-255)accfs		ATPase, Ca++ transporting, plasma membrane 4																																				SO:0001589	frameshift_variant	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203667345_203667346insC	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.261dupC	1.37:g.203667352_203667352dupC	ENSP00000350310:p.Ile85fs					ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs	p.T85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		3	1377_1378	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		85					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Frame_Shift_Ins	INS	ENST00000357681.5	37	c.254_255insC	CCDS1440.1																																																																																				0.480	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		7	168						7	168	---	---	---	---
PIK3C2B	5287	broad.mit.edu	37	1	204438071	204438072	+	Frame_Shift_Ins	INS	-	-	G	rs115574296		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr1:204438071_204438072insG	ENST00000367187.3	-	3	1415_1416	c.859_860insC	c.(859-861)cgcfs	p.R287fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.R287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	287	Interaction with GRB2.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|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)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)	p.R287fs*92(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGCATAGGTGCGGGGGGGCACC	0.624																																						ENST00000367187.3																			1	Deletion - Frameshift(1)	p.R287fs*92(1)	lung(1)	breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(859-861)cacfs		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta																																				SO:0001589	frameshift_variant	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204438071_204438072insG	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.860dupC	1.37:g.204438078_204438078dupG	ENSP00000356155:p.Arg287fs					PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.H287fs	p.H287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		3	1415_1416	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		287			Interaction with GRB2.		O95666|Q5SW99	Frame_Shift_Ins	INS	ENST00000367187.3	37	c.859_860insC	CCDS1446.1																																																																																				0.624	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		16	240						16	240	---	---	---	---
DIEXF	27042	broad.mit.edu	37	1	210014266	210014267	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr1:210014266_210014267insC	ENST00000491415.2	+	8	1408_1409	c.1351_1352insC	c.(1351-1353)tccfs	p.S451fs		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	451					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						CCTCATTGCTTCCCCCCTGGGC	0.465																																						ENST00000491415.2																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						c.(1351-1353)cccfs		digestive organ expansion factor homolog (zebrafish)																																				SO:0001589	frameshift_variant	27042				multicellular organismal development	nucleus		g.chr1:210014266_210014267insC	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.1357dupC	1.37:g.210014272_210014272dupC	ENSP00000419005:p.Ser451fs						p.P451fs	NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN			8	1408_1409	+			451					O75992|Q4VY00|Q63HL9	Frame_Shift_Ins	INS	ENST00000491415.2	37	c.1351_1352insC	CCDS1493.1																																																																																				0.465	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		7	284						7	284	---	---	---	---
MYT1L	23040	broad.mit.edu	37	2	1947094	1947094	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr2:1947094delA	ENST00000399161.2	-	9	912	c.165delT	c.(163-165)tgtfs	p.C55fs	MYT1L_ENST00000428368.2_Frame_Shift_Del_p.C55fs	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	55					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCGCCAAGGGACAACCATATA	0.418																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(163-165)tgfs		myelin transcription factor 1-like							38.0	32.0	34.0					2																	1947094		1855	4102	5957	SO:0001589	frameshift_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1947094delA	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.165delT	2.37:g.1947094delA	ENSP00000382114:p.Cys55fs					MYT1L_ENST00000428368.2_Frame_Shift_Del_p.C55fs	p.C55fs	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	9	912	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	55					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Frame_Shift_Del	DEL	ENST00000399161.2	37	c.165delT																																																																																					0.418	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		2	4						2	4	---	---	---	---
AGBL5	60509	broad.mit.edu	37	2	27292516	27292517	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr2:27292516_27292517insC	ENST00000360131.4	+	14	2590_2591	c.2431_2432insC	c.(2431-2433)accfs	p.T811fs		NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	811					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACATCCCCTACCCCCCGGACC	0.644																																						ENST00000360131.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28						c.(2431-2433)cccfs		ATP/GTP binding protein-like 5																																				SO:0001589	frameshift_variant	60509				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr2:27292516_27292517insC	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.2437dupC	2.37:g.27292522_27292522dupC	ENSP00000353249:p.Thr811fs						p.P811fs	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN			14	2590_2591	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		811					A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Frame_Shift_Ins	INS	ENST00000360131.4	37	c.2431_2432insC	CCDS1732.3																																																																																				0.644	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		7	171						7	171	---	---	---	---
CAD	790	broad.mit.edu	37	2	27456981	27456982	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr2:27456981_27456982insC	ENST00000403525.1	+	21	3460_3461	c.3316_3317insC	c.(3316-3318)accfs	p.T1106fs	CAD_ENST00000264705.4_Frame_Shift_Ins_p.T1169fs			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACGCTGGTGACCCCCCCACAA	0.574																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(3505-3507)cccfs		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)																																			SO:0001589	frameshift_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27456981_27456982insC	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.3323dupC	2.37:g.27456988_27456988dupC	ENSP00000384510:p.Thr1106fs					CAD_ENST00000403525.1_Frame_Shift_Ins_p.P1106fs	p.P1169fs	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			22	3667_3668	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1169			ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Frame_Shift_Ins	INS	ENST00000403525.1	37	c.3505_3506insC																																																																																					0.574	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			7	73						7	73	---	---	---	---
ANTXR1	84168	broad.mit.edu	37	2	69409763	69409764	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr2:69409763_69409764insC	ENST00000303714.4	+	16	1646_1647	c.1324_1325insC	c.(1324-1326)tccfs	p.S442fs	RNA5SP96_ENST00000516041.1_RNA|RNU6-1216P_ENST00000362590.2_RNA	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	442					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCGGCCTTCTTCCCCCCGGAAG	0.421									Familial Infantile Hemangioma																													ENST00000303714.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1324-1326)cccfs		anthrax toxin receptor 1																																				SO:0001589	frameshift_variant	84168	Familial Infantile Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69409763_69409764insC	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1330dupC	2.37:g.69409769_69409769dupC	ENSP00000301945:p.Ser442fs						p.P442fs	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN			16	1646_1647	+			442					A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Frame_Shift_Ins	INS	ENST00000303714.4	37	c.1324_1325insC	CCDS1892.1																																																																																				0.421	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		7	367						7	367	---	---	---	---
ANKRD36BP2	645784	broad.mit.edu	37	2	89082293	89082294	+	RNA	INS	-	-	ATTT	rs368332037		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr2:89082293_89082294insATTT	ENST00000393525.3	+	0	503									ankyrin repeat domain 36B pseudogene 2																		ATTAAAGTCTCATATGTTGAAC	0.332																																						ENST00000393525.3																			0																																																			645784							g.chr2:89082293_89082294insATTT			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89082293_89082294insATTT														0	503	+									RNA	INS	ENST00000393525.3	37																																																																																						0.332	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			7	39						7	39	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2056-2058)gggfs	p.G686fs	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.G464fs|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.G686fs|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	511					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGACATAACTGGGGGGGATGT	0.421																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2053-2058)acggggfs		xin actin-binding repeat containing 2																																				SO:0001589	frameshift_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099957_168099958insG	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2062dupG	2.37:g.168099964_168099964dupG	ENSP00000386840:p.Gly686fs					XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs	p.TG685fs	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	2144_2145	+			510					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Frame_Shift_Ins	INS	ENST00000409195.1	37	c.2055_2056insG	CCDS42769.1																																																																																				0.421	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		8	166						8	166	---	---	---	---
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G	rs201174472|rs387906384		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cacfs	p.H206fs	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|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 regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619																																						ENST00000295108.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	GRCh37	CI992797	NEUROD1	I		c.(616-618)cctfs		neuronal differentiation 1																																				SO:0001589	frameshift_variant	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182542971_182542972insG	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.617dupC	2.37:g.182542978_182542978dupG	ENSP00000295108:p.His206fs					CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	p.P206fs	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	1073_1074	-			206					B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Frame_Shift_Ins	INS	ENST00000295108.3	37	c.616_617insC	CCDS2283.1																																																																																				0.619	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		9	192						9	192	---	---	---	---
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G	rs567294324		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)aggfs	p.R559fs	ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.R513fs|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.R523fs	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	GACTATTTCAAGGGGGGGACTG	0.431																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(1675-1677)gggfs		integrin, alpha V																																				SO:0001589	frameshift_variant	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187521084_187521085insG		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1682dupG	2.37:g.187521091_187521091dupG	ENSP00000261023:p.Arg559fs					ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs|AC017101.10_ENST00000453665.1_RNA	p.G559fs	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	17	1949_1950	+			559					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Frame_Shift_Ins	INS	ENST00000261023.3	37	c.1675_1676insG	CCDS2292.1																																																																																				0.431	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		15	321						15	321	---	---	---	---
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C	rs373650820		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr2:234072358_234072359insC	ENST00000359570.5	+	14	1210_1211	c.1210_1211insC	c.(1210-1212)gccfs	p.A404fs	INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.A168fs|INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.A168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.A403fs			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	416					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAAGGTAACGCCCCCCCTCCC	0.535																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(1210-1212)cccfs		inositol polyphosphate-5-phosphatase, 145kDa																																				SO:0001589	frameshift_variant	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234072358_234072359insC	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.1217dupC	2.37:g.234072365_234072365dupC	ENSP00000352575:p.Ala404fs					INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs|INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs	p.P404fs			Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	14	1210_1211	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	416					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Frame_Shift_Ins	INS	ENST00000359570.5	37	c.1210_1211insC																																																																																					0.535	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		11	261						11	261	---	---	---	---
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs375350046|rs369823368|rs146316187		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr3:10088407_10088410delAGTA	ENST00000419585.1	+	15	1439	c.1278delAGTA	c.(1276-1278)tta>tt	p.L426fs	FANCD2_ENST00000383806.1_Splice_Site_p.L426fs|FANCD2_ENST00000287647.3_Splice_Site_p.L426fs|FANCD2_ENST00000383807.1_Splice_Site_p.L426fs			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.e15+1	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2																																				SO:0001630	splice_region_variant	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10088407_10088410delAGTA	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1278+1AGTA>-	3.37:g.10088407_10088410delAGTA						FANCD2_ENST00000419585.1_Splice_Site_p.426_splice|FANCD2_ENST00000383807.1_Splice_Site_p.426_splice|FANCD2_ENST00000383806.1_Splice_Site_p.426_splice	p.426_splice	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	15	1371	+			426					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Splice_Site	DEL	ENST00000419585.1	37	c.1278_splice	CCDS33696.1																																																																																				0.358	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		Frame_Shift_Del	18	44						18	44	---	---	---	---
RPL32	6161	broad.mit.edu	37	3	12880929	12880930	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr3:12880929_12880930insT	ENST00000429711.2	-	3	295_296	c.196_197insA	c.(196-198)acafs	p.T66fs	RPL32_ENST00000273223.6_Frame_Shift_Ins_p.T84fs|RPL32_ENST00000396953.2_Frame_Shift_Ins_p.T66fs|RPL32_ENST00000435983.1_Frame_Shift_Ins_p.T66fs|RPL32_ENST00000396957.1_Frame_Shift_Ins_p.T66fs|SNORA7A_ENST00000384765.1_RNA	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN	ribosomal protein L32	66					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)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						CATGTGCTTTGTTTTTTTGTTG	0.515																																						ENST00000429711.2																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(196-198)aaafs		ribosomal protein L32																																				SO:0001589	frameshift_variant	6161				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome	g.chr3:12880929_12880930insT	CA436299, CF124158, CR608027	CCDS2614.1	3q13.3-q21	2011-04-06			ENSG00000144713	ENSG00000144713		"""L ribosomal proteins"""	10336	protein-coding gene	gene with protein product						9284913	Standard	NM_001007073		Approved	L32	uc003bxl.3	P62910	OTTHUMG00000129804	ENST00000429711.2:c.197dupA	3.37:g.12880936_12880936dupT	ENSP00000416429:p.Thr66fs					RPL32_ENST00000396957.1_Frame_Shift_Ins_p.K66fs|RPL32_ENST00000435983.1_Frame_Shift_Ins_p.K66fs|RPL32_ENST00000273223.6_Frame_Shift_Ins_p.K84fs|RPL32_ENST00000396953.2_Frame_Shift_Ins_p.K66fs	p.K66fs	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN			3	295_296	-			66					B2R4Q3|P02433	Frame_Shift_Ins	INS	ENST00000429711.2	37	c.196_197insA	CCDS2614.1																																																																																				0.515	RPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252032.2	NM_000994		9	385						9	385	---	---	---	---
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G	rs201949188		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(127-129)gggfs	p.G43fs	KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.G43fs|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.G43fs|KCTD6_ENST00000479470.1_3'UTR	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	43	BTB.				protein homooligomerization (GO:0051260)		ankyrin binding (GO:0030506)			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GAGCTATGTTTGGGGGGGACTT	0.465																																						ENST00000355076.6																			0				endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5						c.(124-129)ttggggfs		potassium channel tetramerization domain containing 6																																				SO:0001589	frameshift_variant	200845					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr3:58486771_58486772insG	AK074934	CCDS2891.1	3p21.2	2013-06-20	2013-06-20		ENSG00000168301	ENSG00000168301			22235	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 6"""			21472142	Standard	NM_153331		Approved	MGC27385, KCASH3	uc003dkj.4	Q8NC69	OTTHUMG00000159161	ENST00000355076.6:c.133dupG	3.37:g.58486778_58486778dupG	ENSP00000347188:p.Gly43fs					KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs	p.LG42fs	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)	2	1109_1110	+			42			BTB.		B3KNI5|Q8NBS6|Q8TCA6	Frame_Shift_Ins	INS	ENST00000355076.6	37	c.126_127insG	CCDS2891.1																																																																																				0.465	KCTD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353591.1	NM_153331		8	254						8	254	---	---	---	---
GRK7	131890	broad.mit.edu	37	3	141535707	141535708	+	Frame_Shift_Ins	INS	-	-	G	rs149574289		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr3:141535707_141535708insG	ENST00000264952.2	+	4	1614_1615	c.1477_1478insG	c.(1477-1479)cggfs	p.R493fs		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	493	AGC-kinase C-terminal.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)	p.R493L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CTCTGAGGTTCGGGGGGTGGAA	0.46																																						ENST00000264952.2																			1	Substitution - Missense(1)	p.R493L(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1477-1479)gggfs		G protein-coupled receptor kinase 7																																				SO:0001589	frameshift_variant	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141535707_141535708insG		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.1483dupG	3.37:g.141535713_141535713dupG	ENSP00000264952:p.Arg493fs						p.G493fs	NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN			4	1614_1615	+			493			AGC-kinase C-terminal.			Frame_Shift_Ins	INS	ENST00000264952.2	37	c.1477_1478insG	CCDS3120.1																																																																																				0.460	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		15	628						15	628	---	---	---	---
SAMD7	344658	broad.mit.edu	37	3	169646267	169646268	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr3:169646267_169646268insG	ENST00000428432.2	+	7	1331_1332	c.942_943insG	c.(943-945)gggfs	p.G315fs	SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.G315fs	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	315										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TGGTTACAATTGGGGGGAATCT	0.381																																						ENST00000428432.2																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(940-945)atggggfs		sterile alpha motif domain containing 7																																				SO:0001589	frameshift_variant	344658							g.chr3:169646267_169646268insG	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.948dupG	3.37:g.169646273_169646273dupG	ENSP00000391299:p.Gly315fs					SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.MG314fs	p.MG314fs	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		7	1331_1332	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		314						Frame_Shift_Ins	INS	ENST00000428432.2	37	c.942_943insG	CCDS3209.1																																																																																				0.381	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		7	300						7	300	---	---	---	---
ABCC5	10057	broad.mit.edu	37	3	183700629	183700630	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr3:183700629_183700630insC	ENST00000334444.6	-	6	997_998	c.757_758insG	c.(757-759)gccfs	p.A253fs	ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.A253fs|ABCC5_ENST00000492216.1_5'UTR	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	253	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GGTTAGGATGGCCCCCCGCAAG	0.515																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(757-759)catfs		ATP-binding cassette, sub-family C (CFTR/MRP), member 5																																				SO:0001589	frameshift_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183700629_183700630insC	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.758dupG	3.37:g.183700635_183700635dupC	ENSP00000333926:p.Ala253fs					ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.H253fs|ABCC5_ENST00000492216.1_5'UTR	p.H253fs	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		6	997_998	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		253			ABC transmembrane type-1 1.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Frame_Shift_Ins	INS	ENST00000334444.6	37	c.757_758insG	CCDS43176.1																																																																																				0.515	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		7	184						7	184	---	---	---	---
SLC51A	200931	broad.mit.edu	37	3	195955037	195955038	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr3:195955037_195955038insG	ENST00000296327.5	+	5	623_624	c.414_415insG	c.(415-417)gggfs	p.G139fs		NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	139					bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	TGGAAGGCTTTGGGGGGAAGGA	0.614																																						ENST00000296327.5																			0											c.(412-417)ttggggfs		solute carrier family 51, alpha subunit																																				SO:0001589	frameshift_variant	200931							g.chr3:195955037_195955038insG		CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"""Solute carriers"""	29955	protein-coding gene	gene with protein product	"""organic solute transporter, alpha subunit"""	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.420dupG	3.37:g.195955043_195955043dupG	ENSP00000296327:p.Gly139fs						p.LG138fs	NM_152672.5	NP_689885.4					5	623_624	+								Q6ZMC7	Frame_Shift_Ins	INS	ENST00000296327.5	37	c.414_415insG	CCDS3314.1																																																																																				0.614	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341253.1	NM_152672		7	602						7	602	---	---	---	---
EVC	2121	broad.mit.edu	37	4	5785361	5785362	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr4:5785361_5785362insC	ENST00000264956.6	+	12	1830_1831	c.1646_1647insC	c.(1645-1650)ctccccfs	p.LP549fs	EVC_ENST00000382674.2_Frame_Shift_Ins_p.LP549fs	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	549					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ATGACTGGCCTCCCCCCGGAAG	0.584																																						ENST00000382674.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(1645-1647)cccfs		Ellis van Creveld syndrome																																				SO:0001589	frameshift_variant	2121				muscle organ development	integral to membrane		g.chr4:5785361_5785362insC	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.1652dupC	4.37:g.5785367_5785367dupC	ENSP00000264956:p.Leu549fs					EVC_ENST00000264956.6_Frame_Shift_Ins_p.P549fs	p.P549fs			P57679	EVC_HUMAN			12	1830_1831	+		Myeloproliferative disorder(84;0.117)	549						Frame_Shift_Ins	INS	ENST00000264956.6	37	c.1646_1647insC	CCDS3383.1																																																																																				0.584	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			7	363						7	363	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114280134	114280135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr4:114280134_114280135insG	ENST00000357077.4	+	38	10413_10414	c.10360_10361insG	c.(10360-10362)aggfs	p.R3454fs	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Frame_Shift_Ins_p.R3421fs|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3454					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.T3457fs*8(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTTCCTGCAGGGGGGGCACG	0.455																																						ENST00000357077.4																			1	Insertion - Frameshift(1)	p.T3457fs*8(1)	ovary(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(10360-10362)gggfs		ankyrin 2, neuronal																																				SO:0001589	frameshift_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114280134_114280135insG	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10367dupG	4.37:g.114280141_114280141dupG	ENSP00000349588:p.Arg3454fs					ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Frame_Shift_Ins_p.G3421fs	p.G3454fs	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	10413_10414	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3421					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Frame_Shift_Ins	INS	ENST00000357077.4	37	c.10360_10361insG	CCDS3702.1																																																																																				0.455	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		10	111						10	111	---	---	---	---
TLR3	7098	broad.mit.edu	37	4	186997804	186997805	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr4:186997804_186997805insG	ENST00000296795.3	+	2	135_136	c.31_32insG	c.(31-33)tggfs	p.W11fs		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	11					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TATCTACTTTTGGGGGGGCCTT	0.446																																						ENST00000296795.2																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(31-33)gggfs		toll-like receptor 3																																				SO:0001589	frameshift_variant	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:186997804_186997805insG	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.38dupG	4.37:g.186997811_186997811dupG	ENSP00000296795:p.Trp11fs						p.G11fs	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	2	135_136	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	11					B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Frame_Shift_Ins	INS	ENST00000296795.3	37	c.31_32insG	CCDS3846.1																																																																																				0.446	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			8	173						8	173	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187558038	187558039	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr4:187558038_187558039insG	ENST00000441802.2	-	5	3881_3882	c.3672_3673insC	c.(3670-3675)cccaaafs	p.K1225fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1225	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGGTTGATTTGGGGGGACTAC	0.361										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(3670-3675)ccaatcfs		FAT atypical cadherin 1																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187558038_187558039insG	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.3673dupC	4.37:g.187558044_187558044dupG	ENSP00000406229:p.Lys1225fs	HNSCC(5;0.00058)					p.I1225fs	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			5	3881_3882	-			1225			Cadherin 10.			Frame_Shift_Ins	INS	ENST00000441802.2	37	c.3672_3673insC	CCDS47177.1																																																																																				0.361	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		7	604						7	604	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	31799540	31799541	+	Frame_Shift_Ins	INS	-	-	C	rs371280714		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr5:31799540_31799541insC	ENST00000438447.1	+	2	573_574	c.185_186insC	c.(184-189)agccccfs	p.SP62fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.SP62fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	62					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.E65fs*34(1)|p.E65fs*21(1)		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						CCTGATCACAGCCCCCCCGAAA	0.589																																						ENST00000438447.1																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.E65fs*34(1)|p.E65fs*21(1)	large_intestine(1)|ovary(1)	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.(184-186)accfs		PDZ domain containing 2																																				SO:0001589	frameshift_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31799540_31799541insC	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.192dupC	5.37:g.31799547_31799547dupC	ENSP00000402033:p.Ser62fs					PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.T62fs	p.T62fs			O15018	PDZD2_HUMAN			2	573_574	+			62					Q9BXD4	Frame_Shift_Ins	INS	ENST00000438447.1	37	c.185_186insC	CCDS34137.1																																																																																				0.589	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			7	154						7	154	---	---	---	---
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(931-933)gggfs	p.G311fs	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.G311fs	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	311					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGGTGTGATTGGGGGGCAGCT	0.52																																						ENST00000265113.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41						c.(928-933)atggggfs		solute carrier family 1 (glial high affinity glutamate transporter), member 3	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36679798_36679799insG		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.936dupG	5.37:g.36679804_36679804dupG	ENSP00000265113:p.Gly311fs					CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs	p.MG310fs	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1406_1407	+	all_lung(31;0.000245)		310					B2R5T3|Q4JCQ8	Frame_Shift_Ins	INS	ENST00000265113.4	37	c.930_931insG	CCDS3919.1																																																																																				0.520	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		7	477						7	477	---	---	---	---
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C	rs372345940		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr5:41181559_41181560insC	ENST00000263413.3	-	7	1092_1093	c.828_829insG	c.(826-831)gggagcfs	p.S277fs	C6_ENST00000337836.5_Frame_Shift_Ins_p.S277fs|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	277	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGAAAGAGCTCCCCCCCTGAC	0.376																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96	GRCh37	CD982526	C6	D		c.(826-831)gggctcfs		complement component 6																																				SO:0001589	frameshift_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41181559_41181560insC	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.829dupG	5.37:g.41181566_41181566dupC	ENSP00000263413:p.Ser277fs					C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Frame_Shift_Ins_p.L277fs	p.L277fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			7	1092_1093	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	277			MACPF.			Frame_Shift_Ins	INS	ENST00000263413.3	37	c.828_829insG	CCDS3936.1																																																																																				0.376	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			10	156						10	156	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)gggaggfs	p.R763fs	ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.R665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.R425fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	763					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGCTGGATCCTCCCCCCAGCGA	0.579																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(2284-2289)ggggatfs		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3																																				SO:0001589	frameshift_variant	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141049341_141049342insC	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2287dupG	5.37:g.141049347_141049347dupC	ENSP00000239440:p.Arg763fs					ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs	p.D763fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			16	2351_2352	-			763					B4DIT1|D3DQE3	Frame_Shift_Ins	INS	ENST00000239440.4	37	c.2286_2287insG	CCDS4266.1																																																																																				0.579	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		8	492						8	492	---	---	---	---
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G	rs199646351		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr5:141336747_141336748insG	ENST00000231484.3	-	1	1879_1880	c.669_670insC	c.(667-672)cccaagfs	p.K224fs	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	224	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCTGACTTGGGGGGGTTCC	0.48																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(667-672)ccagtcfs		protocadherin 12				5,4259		0,5,2127						5.1	1.0			79	6,8238		0,6,4116	no	frameshift	PCDH12	NM_016580.2		0,11,6243	A1A1,A1R,RR		0.0728,0.1173,0.0879				11,12497				SO:0001589	frameshift_variant	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141336747_141336748insG	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.670dupC	5.37:g.141336754_141336754dupG	ENSP00000231484:p.Lys224fs						p.V224fs	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1879_1880	-		all_hematologic(541;0.0999)	224			Cadherin 2.		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Frame_Shift_Ins	INS	ENST00000231484.3	37	c.669_670insC	CCDS4269.1																																																																																				0.480	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		9	243						9	243	---	---	---	---
TCOF1	6949	broad.mit.edu	37	5	149755744	149755745	+	Frame_Shift_Ins	INS	-	-	C	rs2071240	byFrequency	TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr5:149755744_149755745insC	ENST00000504761.2	+	13	1993_1994	c.1993_1994insC	c.(1993-1995)gccfs	p.A665fs	TCOF1_ENST00000439160.2_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000513346.1_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000323668.7_Frame_Shift_Ins_p.A588fs|TCOF1_ENST00000377797.3_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000445265.2_Frame_Shift_Ins_p.A588fs|TCOF1_ENST00000451292.1_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000394269.3_Frame_Shift_Ins_p.A665fs			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	665			A -> P (in dbSNP:rs2071240). {ECO:0000269|PubMed:15019983, ECO:0000269|PubMed:8563749, ECO:0000269|PubMed:9074926, ECO:0000269|PubMed:9096354}.		skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCACCCAAGCCCCCCGGAAA	0.584																																						ENST00000451292.1																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(1993-1995)cccfs		Treacher Collins-Franceschetti syndrome 1																																				SO:0001589	frameshift_variant	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149755744_149755745insC		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.1999dupC	5.37:g.149755750_149755750dupC	ENSP00000421655:p.Ala665fs					TCOF1_ENST00000394269.3_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000377797.3_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000445265.2_Frame_Shift_Ins_p.P588fs|TCOF1_ENST00000323668.7_Frame_Shift_Ins_p.P588fs|TCOF1_ENST00000439160.2_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000504761.2_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000513346.1_Frame_Shift_Ins_p.P665fs	p.P665fs			Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	2101_2102	+		all_hematologic(541;0.224)	665		A -> P (in dbSNP:rs2071240).			A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Frame_Shift_Ins	INS	ENST00000504761.2	37	c.1993_1994insC	CCDS54936.1																																																																																				0.584	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		7	288						7	288	---	---	---	---
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Intron	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr6:10557409_10557410insC	ENST00000379597.3	+	1	1481				GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000316170.3_Frame_Shift_Ins_p.P252fs			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGAAACCGCCTCCCCCCCATAA	0.485																																						ENST00000316170.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(751-756)ccccccfs		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)																																				SO:0001627	intron_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10557409_10557410insC	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+27340->C	6.37:g.10557416_10557416dupC						GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000410107.1_Intron	p.PP251fs	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	1170_1171	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	253						Frame_Shift_Ins	INS	ENST00000379597.3	37	c.753_754insC	CCDS34338.1																																																																																				0.485	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		18	256						18	256	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-756)gtggggfs	p.VG251fs	PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.VG106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.VG251fs|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(751-753)gggfs		phosphatase and actin regulator 1																																				SO:0001589	frameshift_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13206134_13206135insG	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.759dupG	6.37:g.13206141_13206141dupG	ENSP00000368655:p.Val251fs					PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs	p.G251fs			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		7	881_882	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	251					A8K1V2|Q3MJ93|Q5JSJ2	Frame_Shift_Ins	INS	ENST00000379350.1	37	c.752_753insG																																																																																					0.599	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		11	202						11	202	---	---	---	---
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)gcafs	p.A324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.A77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411																																						ENST00000378454.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(970-972)agcfs		doublecortin domain containing 2			,	0,4262		0,0,2131					,	6.1	1.0			246	1,8253		0,1,4126	no	frameshift,frameshift	DCDC2	NM_016356.3,NM_001195610.1	,	0,1,6257	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12515				SO:0001589	frameshift_variant	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24205282_24205283insC	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.971dupG	6.37:g.24205288_24205288dupC	ENSP00000367715:p.Ala324fs					DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	p.S324fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN			8	1271_1272	-		Ovarian(999;0.101)	324					Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Frame_Shift_Ins	INS	ENST00000378454.3	37	c.970_971insG	CCDS4550.1																																																																																				0.411	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		36	1090						36	1090	---	---	---	---
NOTCH4	4855	broad.mit.edu	37	6	32181941	32181942	+	Frame_Shift_Ins	INS	-	-	C	rs143622513		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr6:32181941_32181942insC	ENST00000375023.3	-	13	2250_2251	c.2112_2113insG	c.(2110-2115)gggaccfs	p.T705fs	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	705	EGF-like 18. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGGTAGCAGGTCCCCCCATGGG	0.604																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(2110-2115)ggcctgfs		notch 4																																				SO:0001589	frameshift_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32181941_32181942insC		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.2113dupG	6.37:g.32181947_32181947dupC	ENSP00000364163:p.Thr705fs					NOTCH4_ENST00000465528.1_5'UTR	p.L705fs	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			13	2250_2251	-			705			EGF-like 18.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Frame_Shift_Ins	INS	ENST00000375023.3	37	c.2112_2113insG	CCDS34420.1																																																																																				0.604	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			8	462						8	462	---	---	---	---
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C	rs587778337		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr6:35425714_35425715insC	ENST00000229769.2	+	4	1107_1108	c.922_923insC	c.(922-924)gccfs	p.A308fs		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	308	Interaction with FANCC.				DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATTGGAGGATGCCCCCCCAGTT	0.54			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000229769.2			yes	Rec		Fanconi anaemia E	6	6p21-p22	2178	"""N, F, S"""	"""Fanconi anemia, complementation group E"""			L		"""AML, leukemia"""			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						c.(922-924)cccfs	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group E				16,4248		0,16,2116						-5.8	0.0		dbSNP_130	75	14,8240		0,14,4113	no	frameshift	FANCE	NM_021922.2		0,30,6229	A1A1,A1R,RR		0.1696,0.3752,0.2397				30,12488				SO:0001589	frameshift_variant	2178	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr6:35425714_35425715insC	AF265210	CCDS4805.1	6p22-p21	2014-09-17			ENSG00000112039	ENSG00000112039		"""Fanconi anemia, complementation groups"""	3586	protein-coding gene	gene with protein product		613976		FACE		7662964, 11001585	Standard	XM_005248885		Approved	FAE	uc003oko.1	Q9HB96	OTTHUMG00000014565	ENST00000229769.2:c.929dupC	6.37:g.35425721_35425721dupC	ENSP00000229769:p.Ala308fs						p.P308fs	NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN			4	1107_1108	+			308			Interaction with FANCC.		A8K907|Q4ZGH2	Frame_Shift_Ins	INS	ENST00000229769.2	37	c.922_923insC	CCDS4805.1																																																																																				0.540	FANCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040282.1			9	113						9	113	---	---	---	---
BRPF3	27154	broad.mit.edu	37	6	36181728	36181729	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr6:36181728_36181729insC	ENST00000357641.6	+	8	2807_2808	c.2554_2555insC	c.(2554-2556)tccfs	p.S852fs	BRPF3_ENST00000534400.1_Frame_Shift_Ins_p.S852fs|BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000543502.1_Intron|BRPF3_ENST00000339717.7_Intron	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	852					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						TGAGCAAGAATCCCCCCCGGAG	0.5																																						ENST00000357641.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						c.(2554-2556)cccfs		bromodomain and PHD finger containing, 3																																				SO:0001589	frameshift_variant	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36181728_36181729insC	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.2561dupC	6.37:g.36181735_36181735dupC	ENSP00000350267:p.Ser852fs					BRPF3_ENST00000534400.1_Frame_Shift_Ins_p.P852fs|BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000543502.1_Intron|BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000534694.1_Intron	p.P852fs	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN			8	2807_2808	+			852					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Frame_Shift_Ins	INS	ENST00000357641.6	37	c.2554_2555insC	CCDS34437.1																																																																																				0.500	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		8	81						8	81	---	---	---	---
REV3L	5980	broad.mit.edu	37	6	111693903	111693904	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr6:111693903_111693904insG	ENST00000358835.3	-	14	6108_6109	c.5654_5655insC	c.(5653-5655)ccafs	p.P1885fs	REV3L_ENST00000368805.1_Frame_Shift_Ins_p.P1885fs|REV3L_ENST00000368802.3_Frame_Shift_Ins_p.P1885fs|REV3L_ENST00000435970.1_Frame_Shift_Ins_p.P1807fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1885	Mediates interaction with MAD2L2.				DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTCCCTACTTGGGGGGGACAT	0.431								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(5419-5421)cagfs	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit																																				SO:0001589	frameshift_variant	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111693903_111693904insG	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5655dupC	6.37:g.111693910_111693910dupG	ENSP00000351697:p.Pro1885fs					REV3L_ENST00000358835.3_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000368802.3_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000368805.1_Frame_Shift_Ins_p.Q1885fs	p.Q1807fs			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	6236_6237	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1885					O43214|Q5TC33	Frame_Shift_Ins	INS	ENST00000358835.3	37	c.5420_5421insC	CCDS5091.2																																																																																				0.431	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		18	323						18	323	---	---	---	---
TAB2	23118	broad.mit.edu	37	6	149700166	149700167	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr6:149700166_149700167insC	ENST00000367456.1	+	4	1692_1693	c.1115_1116insC	c.(1114-1119)agccccfs	p.SP372fs	TAB2_ENST00000286332.5_Frame_Shift_Ins_p.SP372fs|TAB2_ENST00000392282.1_Frame_Shift_Ins_p.SP372fs|TAB2_ENST00000536230.1_Frame_Shift_Ins_p.SP340fs|TAB2_ENST00000538427.1_Frame_Shift_Ins_p.SP372fs			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	372					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|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 NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)	p.S372S(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						ATAGCTGCCAGCCCCCCAAATA	0.495																																						ENST00000367456.1																			1	Substitution - coding silent(1)	p.S372S(1)	endometrium(1)	breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						c.(1114-1116)accfs		TGF-beta activated kinase 1/MAP3K7 binding protein 2																																				SO:0001589	frameshift_variant	23118				activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|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	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	g.chr6:149700166_149700167insC	AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.1121dupC	6.37:g.149700172_149700172dupC	ENSP00000356426:p.Ser372fs					TAB2_ENST00000392282.1_Frame_Shift_Ins_p.T372fs|TAB2_ENST00000536230.1_Frame_Shift_Ins_p.T340fs|TAB2_ENST00000538427.1_Frame_Shift_Ins_p.T372fs|TAB2_ENST00000286332.5_Frame_Shift_Ins_p.T372fs	p.T372fs			Q9NYJ8	TAB2_HUMAN			4	1692_1693	+			372					B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Frame_Shift_Ins	INS	ENST00000367456.1	37	c.1115_1116insC	CCDS5214.1																																																																																				0.495	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3			7	131						7	131	---	---	---	---
GRM3	2913	broad.mit.edu	37	7	86415681	86415682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr7:86415681_86415682insC	ENST00000361669.2	+	3	1672_1673	c.573_574insC	c.(574-576)cccfs	p.P192fs	GRM3_ENST00000439827.1_Frame_Shift_Ins_p.P192fs|AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Frame_Shift_Ins_p.P64fs|GRM3_ENST00000394720.2_Frame_Shift_Ins_p.P190fs	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	192					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CCAGGACCGTGCCCCCCGACTT	0.564																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(571-576)gtccccfs		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)																																			SO:0001589	frameshift_variant	2913				synaptic transmission	integral to plasma membrane		g.chr7:86415681_86415682insC		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.579dupC	7.37:g.86415687_86415687dupC	ENSP00000355316:p.Pro192fs					AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000394720.2_Frame_Shift_Ins_p.VP189fs|GRM3_ENST00000536043.1_Frame_Shift_Ins_p.VP63fs|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Frame_Shift_Ins_p.VP191fs|AC005009.2_ENST00000418031.1_RNA	p.VP191fs	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			3	1672_1673	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		191					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Frame_Shift_Ins	INS	ENST00000361669.2	37	c.573_574insC	CCDS5600.1																																																																																				0.564	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			8	198						8	198	---	---	---	---
KEL	3792	broad.mit.edu	37	7	142639979	142639980	+	Frame_Shift_Ins	INS	-	-	C	rs140258059		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr7:142639979_142639980insC	ENST00000355265.2	-	17	2397_2398	c.1923_1924insG	c.(1921-1926)gggctafs	p.L642fs		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	642					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCGATGGCTAGCCCCCCAACGT	0.5																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(1921-1926)ggtagcfs		Kell blood group, metallo-endopeptidase																																				SO:0001589	frameshift_variant	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142639979_142639980insC	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1924dupG	7.37:g.142639985_142639985dupC	ENSP00000347409:p.Leu642fs						p.S642fs	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			17	2397_2398	-	Melanoma(164;0.059)		642					B2RBV4|Q96RS8|Q99885	Frame_Shift_Ins	INS	ENST00000355265.2	37	c.1923_1924insG	CCDS34766.1																																																																																				0.500	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		8	646						8	646	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr9:107593322_107593323insC	ENST00000374736.3	-	14	2169_2170	c.1775_1776insG	c.(1774-1776)ggcfs	p.G592fs	ABCA1_ENST00000494467.1_5'Flank	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	592					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AGTAGGCGAAGCCCCCCCAGAC	0.54																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(1774-1776)gttfs		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)																																			SO:0001589	frameshift_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107593322_107593323insC	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.1776dupG	9.37:g.107593329_107593329dupC	ENSP00000363868:p.Gly592fs						p.V592fs	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	14	2169_2170	-			592					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Frame_Shift_Ins	INS	ENST00000374736.3	37	c.1775_1776insG	CCDS6762.1																																																																																				0.540	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		11	177						11	177	---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109691601	109691602	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr9:109691601_109691602insG	ENST00000277225.5	+	3	5697_5698	c.5408_5409insG	c.(5407-5412)ttggggfs	p.LG1803fs	ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.LG648fs|ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.LG1803fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1803					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCCAGCAAGTTGGGGGGCTACT	0.55																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(5407-5409)tggfs		zinc finger protein 462																																				SO:0001589	frameshift_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109691601_109691602insG	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5414dupG	9.37:g.109691607_109691607dupG	ENSP00000277225:p.Leu1803fs					ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.W648fs|ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.W1803fs	p.W1803fs			Q96JM2	ZN462_HUMAN			3	5697_5698	+			1803					Q5T0T4|Q8N408	Frame_Shift_Ins	INS	ENST00000277225.5	37	c.5408_5409insG	CCDS35096.1																																																																																				0.550	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		9	199						9	199	---	---	---	---
BTRC	8945	broad.mit.edu	37	10	103310572	103310573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr10:103310572_103310573insC	ENST00000370187.3	+	14	1891_1892	c.1773_1774insC	c.(1774-1776)cccfs	p.P592fs	BTRC_ENST00000408038.2_Frame_Shift_Ins_p.P556fs|BTRC_ENST00000393441.4_Frame_Shift_Ins_p.P551fs|BTRC_ENST00000493877.1_3'UTR	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	592			P -> H (in dbSNP:rs2270439).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCCAAGCTGAACCCCCCCGTTC	0.431																																						ENST00000370187.3																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27						c.(1771-1776)gaccccfs		beta-transducin repeat containing E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103310572_103310573insC	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.1780dupC	10.37:g.103310579_103310579dupC	ENSP00000359206:p.Pro592fs					BTRC_ENST00000393441.4_Frame_Shift_Ins_p.DP550fs|BTRC_ENST00000408038.2_Frame_Shift_Ins_p.DP555fs|BTRC_ENST00000493877.1_3'UTR	p.DP591fs	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	14	1891_1892	+		Colorectal(252;0.234)	591					B5MD49|Q5W141|Q5W142|Q9Y213	Frame_Shift_Ins	INS	ENST00000370187.3	37	c.1773_1774insC	CCDS7512.1																																																																																				0.431	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		7	131						7	131	---	---	---	---
OR51E1	143503	broad.mit.edu	37	11	4674216	4674217	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr11:4674216_4674217insG	ENST00000396952.5	+	2	1110_1111	c.460_461insG	c.(460-462)cggfs	p.R154fs	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A155fs*3(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTGTGGTGCGGGGGGCTGCA	0.559																																						ENST00000396952.5																			1	Deletion - Frameshift(1)	p.A155fs*3(1)	ovary(1)	NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30						c.(460-462)gggfs		olfactory receptor, family 51, subfamily E, member 1																																				SO:0001589	frameshift_variant	143503				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4674216_4674217insG	AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"""GPCR / Class A : Olfactory receptors"""	15194	protein-coding gene	gene with protein product		611267	"""olfactory receptor, family 51, subfamily E, member 1 pseudogene"""	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.466dupG	11.37:g.4674222_4674222dupG	ENSP00000380155:p.Arg154fs					OR51E1_ENST00000530215.1_Intron	p.G154fs	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	1110_1111	+		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	153					A8KAM6|Q5S4P5|Q66X57|Q6IF93	Frame_Shift_Ins	INS	ENST00000396952.5	37	c.460_461insG	CCDS31358.2																																																																																				0.559	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347136.2	NM_152430		9	416						9	416	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6662141	6662142	+	Frame_Shift_Ins	INS	-	-	G	rs188153920|rs143767864	byFrequency	TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr11:6662141_6662142insG	ENST00000299441.3	-	2	1114_1115	c.703_704insC	c.(703-705)cggfs	p.R235fs		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	235	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R235Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCCCTCCGGGGGGGTGAA	0.589																																						ENST00000299441.3																			1	Substitution - Missense(1)	p.R235Q(1)	urinary_tract(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(703-705)gagfs		dachsous cadherin-related 1				14,4250		0,14,2118						4.7	0.9			101	0,8254		0,0,4127	no	frameshift	DCHS1	NM_003737.2		0,14,6245	A1A1,A1R,RR		0.0,0.3283,0.1118				14,12504				SO:0001589	frameshift_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6662141_6662142insG	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.704dupC	11.37:g.6662148_6662148dupG	ENSP00000299441:p.Arg235fs						p.E235fs	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1114_1115	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	235			Cadherin 2.		O15098	Frame_Shift_Ins	INS	ENST00000299441.3	37	c.703_704insC	CCDS7771.1																																																																																				0.589	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		13	120						13	120	---	---	---	---
DENND5A	23258	broad.mit.edu	37	11	9167316	9167317	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr11:9167316_9167317insC	ENST00000328194.3	-	17	3223_3224	c.2903_2904insG	c.(2902-2904)ggcfs	p.G968fs	DENND5A_ENST00000530044.1_Frame_Shift_Ins_p.G968fs|DENND5A_ENST00000527700.1_Frame_Shift_Ins_p.G311fs	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	968	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGAACATGGAGCCCCCCAGCTT	0.48																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2902-2904)gtcfs		DENN/MADD domain containing 5A																																				SO:0001589	frameshift_variant	23258							g.chr11:9167316_9167317insC	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2904dupG	11.37:g.9167322_9167322dupC	ENSP00000328524:p.Gly968fs					DENND5A_ENST00000530044.1_Frame_Shift_Ins_p.V968fs|DENND5A_ENST00000527700.1_Frame_Shift_Ins_p.V311fs	p.V968fs	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			17	3223_3224	-			968			PLAT.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Frame_Shift_Ins	INS	ENST00000328194.3	37	c.2903_2904insG	CCDS31423.1																																																																																				0.480	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		7	445						7	445	---	---	---	---
PAMR1	25891	broad.mit.edu	37	11	35513669	35513670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr11:35513669_35513670insC	ENST00000378880.2	-	3	747_748	c.302_303insG	c.(301-303)ggtfs	p.G101fs	PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.G101fs|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.G101fs|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.G61fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATGA	0.52																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(301-303)gacfs		peptidase domain containing associated with muscle regeneration 1																																				SO:0001589	frameshift_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35513669_35513670insC		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.303dupG	11.37:g.35513676_35513676dupC	ENSP00000368158:p.Gly101fs					PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs	p.D101fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			3	747_748	-			101					A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Frame_Shift_Ins	INS	ENST00000378880.2	37	c.302_303insG	CCDS31460.1																																																																																				0.520	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		23	539						23	539	---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61094367	61094368	+	Splice_Site	INS	-	-	G	rs555561982	byFrequency	TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr11:61094367_61094368insG	ENST00000301764.7	-	5	947		c.e5-2		DDB1_ENST00000545930.1_Splice_Site|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa						DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CTGAGGGTCCTGGGGGGGAAAG	0.515								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.e5-2	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa				2,4260		0,2,2129						4.8	1.0			84	5,8245		0,5,4120	no	splice-3	DDB1	NM_001923.3		0,7,6249	A1A1,A1R,RR		0.0606,0.0469,0.0559				7,12505				SO:0001630	splice_region_variant	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61094367_61094368insG	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.550-2->C	11.37:g.61094374_61094374dupG						DDB1_ENST00000545930.1_Splice_Site|DDB1_ENST00000450997.2_Intron		NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN			5	947	-								A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Splice_Site	INS	ENST00000301764.7	37		CCDS31576.1																																																																																				0.515	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923	Intron	8	205						8	205	---	---	---	---
CCS	9973	broad.mit.edu	37	11	66366957	66366958	+	Frame_Shift_Ins	INS	-	-	G	rs61731811	byFrequency	TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr11:66366957_66366958insG	ENST00000533244.1	+	4	719_720	c.278_279insG	c.(277-282)ctggggfs	p.LG93fs	CCS_ENST00000310190.4_Frame_Shift_Ins_p.LG74fs	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	93	Superoxide dismutase-like.				copper ion transmembrane transport (GO:0035434)|intracellular copper ion transport (GO:0015680)|positive regulation of oxidoreductase activity (GO:0051353)|removal of superoxide radicals (GO:0019430)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|protein disulfide oxidoreductase activity (GO:0015035)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						GTGGCCATCCTGGGGGGGCCTG	0.644																																						ENST00000533244.1																			0				breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						c.(277-279)cggfs		copper chaperone for superoxide dismutase																																				SO:0001589	frameshift_variant	9973				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding	g.chr11:66366957_66366958insG	AF002210	CCDS8146.1	11q13.2	2012-09-20			ENSG00000173992	ENSG00000173992			1613	protein-coding gene	gene with protein product		603864				9295278	Standard	NM_005125		Approved		uc001oir.3	O14618	OTTHUMG00000167238	ENST00000533244.1:c.285dupG	11.37:g.66366964_66366964dupG	ENSP00000436318:p.Leu93fs					CCS_ENST00000310190.4_Frame_Shift_Ins_p.R74fs	p.R93fs	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN			4	719_720	+			93			Superoxide dismutase-like.		Q2M366|Q8NEV0	Frame_Shift_Ins	INS	ENST00000533244.1	37	c.278_279insG	CCDS8146.1																																																																																				0.644	CCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393826.1	NM_005125		9	68						9	68	---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr11:123900396_123900397insC	ENST00000431524.1	+	1	100_101	c.67_68insC	c.(67-69)gccfs	p.A23fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A23T(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGCGCTGGACGCCCCCCTCTTT	0.589																																						ENST00000431524.1																			1	Substitution - Missense(1)	p.A23T(1)	endometrium(1)	breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(67-69)cccfs		olfactory receptor, family 10, subfamily G, member 8																																				SO:0001589	frameshift_variant	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900396_123900397insC	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.73dupC	11.37:g.123900402_123900402dupC	ENSP00000389072:p.Ala23fs						p.P23fs	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	100_101	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	23					B2RNJ3|Q6IEV2	Frame_Shift_Ins	INS	ENST00000431524.1	37	c.67_68insC	CCDS31704.1																																																																																				0.589	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		7	504						7	504	---	---	---	---
ADAMTS8	11095	broad.mit.edu	37	11	130275723	130275724	+	Frame_Shift_Ins	INS	-	-	G	rs373860109		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr11:130275723_130275724insG	ENST00000257359.6	-	9	3105_3106	c.2399_2400insC	c.(2398-2400)ccafs	p.P800fs		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	800	Spacer.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ATTTGACTTTTGGGGGGAAGAC	0.579																																						ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(2398-2400)caafs		ADAM metallopeptidase with thrombospondin type 1 motif, 8																																				SO:0001589	frameshift_variant	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130275723_130275724insG	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.2400dupC	11.37:g.130275729_130275729dupG	ENSP00000257359:p.Pro800fs						p.Q800fs	NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	9	3105_3106	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	800			Spacer.		Q9NZS0	Frame_Shift_Ins	INS	ENST00000257359.6	37	c.2399_2400insC	CCDS41732.1																																																																																				0.579	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		11	895						11	895	---	---	---	---
KDM5A	5927	broad.mit.edu	37	12	442810	442811	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr12:442810_442811insC	ENST00000399788.2	-	12	1857_1858	c.1495_1496insG	c.(1495-1497)gagfs	p.E499fs	KDM5A_ENST00000382815.4_Frame_Shift_Ins_p.E499fs	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	499	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TGTCTTTGGCTCCCCCCTAGCA	0.465			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(1495-1497)gccfs		lysine (K)-specific demethylase 5A																																				SO:0001589	frameshift_variant	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:442810_442811insC		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.1496dupG	12.37:g.442816_442816dupC	ENSP00000382688:p.Glu499fs					KDM5A_ENST00000382815.4_Frame_Shift_Ins_p.A499fs	p.A499fs	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			12	1857_1858	-			499			JmjC.		A8MV76|Q4LE72|Q86XZ1	Frame_Shift_Ins	INS	ENST00000399788.2	37	c.1495_1496insG	CCDS41736.1																																																																																				0.465	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		8	263						8	263	---	---	---	---
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-495)caggggfs	p.QG164fs	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.QG109fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	164	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	AAAAACATACAGGGGGGGAAGA	0.564																																						ENST00000011653.4																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(490-492)cggfs		CD4 molecule																																				SO:0001589	frameshift_variant	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6924042_6924043insG	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.498dupG	12.37:g.6924049_6924049dupG	ENSP00000011653:p.Gln164fs					CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs|CD4_ENST00000538827.1_3'UTR	p.R164fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN			5	749_750	+		Myeloproliferative disorder(1001;0.0122)	164			Ig-like C2-type 1.		B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Frame_Shift_Ins	INS	ENST00000011653.4	37	c.491_492insG	CCDS8562.1																																																																																				0.564	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		9	278						9	278	---	---	---	---
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr12:13142224_13142225insC	ENST00000014930.4	-	2	361_362	c.203_204insG	c.(202-204)ggcfs	p.G68fs	HEBP1_ENST00000536942.1_Frame_Shift_Ins_p.G68fs	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554																																						ENST00000536942.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7						c.(202-204)gacfs		heme binding protein 1																																				SO:0001589	frameshift_variant	50865				circadian rhythm	extracellular region		g.chr12:13142224_13142225insC	AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"""Endogenous ligands"""	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771	ENST00000014930.4:c.204dupG	12.37:g.13142230_13142230dupC	ENSP00000014930:p.Gly68fs					HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs	p.D68fs			Q9NRV9	HEBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.153)	2	353_354	-		Prostate(47;0.183)	68					A8K1G2|Q9Y5Z5	Frame_Shift_Ins	INS	ENST00000014930.4	37	c.203_204insG	CCDS31749.1																																																																																				0.554	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1			15	627						15	627	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49445525	49445526	+	Frame_Shift_Ins	INS	-	-	G	rs200088180		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr12:49445525_49445526insG	ENST00000301067.7	-	10	1939_1940	c.1940_1941insC	c.(1939-1941)ccafs	p.P647fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	647	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ATACCTCAGGTGGGGGGGACAT	0.634																																						ENST00000301067.7																			0											c.(1939-1941)cccfs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49445525_49445526insG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1941dupC	12.37:g.49445532_49445532dupG	ENSP00000301067:p.Pro647fs						p.P647fs	NM_003482.3	NP_003473.3					10	1939_1940	-								O14687	Frame_Shift_Ins	INS	ENST00000301067.7	37	c.1940_1941insC	CCDS44873.1																																																																																				0.634	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			11	149						11	149	---	---	---	---
PCBP2	5094	broad.mit.edu	37	12	53856277	53856278	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr12:53856277_53856278insC	ENST00000439930.3	+	7	539_540	c.517_518insC	c.(517-519)tccfs	p.S173fs	PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000437231.1_Splice_Site_p.S169fs|PCBP2_ENST00000359282.5_Splice_Site_p.S169fs|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000552296.2_Splice_Site_p.S169fs|PCBP2_ENST00000541275.1_Splice_Site_p.S169fs|PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000455667.3_Splice_Site_p.S169fs|PCBP2_ENST00000603815.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.S173fs|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000546463.1_Splice_Site_p.S169fs			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	173					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TCTCTCCCAGTCCCCCCCGAAG	0.5																																						ENST00000603815.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(517-519)cccfs		poly(rC) binding protein 2																																				SO:0001589	frameshift_variant	5094				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	g.chr12:53856277_53856278insC	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.524dupC	12.37:g.53856284_53856284dupC	ENSP00000408949:p.Ser173fs					PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000359282.5_Splice_Site_p.P169_splice|PCBP2_ENST00000541275.1_Splice_Site_p.P169_splice|PCBP2_ENST00000437231.1_Splice_Site_p.P169_splice|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000552296.2_Splice_Site_p.P169_splice|PCBP2_ENST00000546463.1_Splice_Site_p.P169_splice|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000455667.3_Splice_Site_p.P169_splice|PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000439930.3_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.P173fs	p.P173fs	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN			8	867_868	+			173					A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Frame_Shift_Ins	INS	ENST00000439930.3	37	c.517_518insC	CCDS44901.1																																																																																				0.500	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		8	128						8	128	---	---	---	---
PDE1B	5153	broad.mit.edu	37	12	54971059	54971060	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr12:54971059_54971060insC	ENST00000243052.3	+	15	1994_1995	c.1558_1559insC	c.(1558-1560)gccfs	p.A520fs	PDE1B_ENST00000538346.1_Frame_Shift_Ins_p.A479fs|PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Frame_Shift_Ins_p.A500fs	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	520					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TGAAGAAGAGGCCCCCCCATCC	0.559																																						ENST00000243052.3																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						c.(1558-1560)cccfs		phosphodiesterase 1B, calmodulin-dependent																																				SO:0001589	frameshift_variant	5153				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54971059_54971060insC	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.1565dupC	12.37:g.54971066_54971066dupC	ENSP00000243052:p.Ala520fs					PDE1B_ENST00000550620.1_Frame_Shift_Ins_p.P500fs|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Frame_Shift_Ins_p.P479fs|PPP1R1A_ENST00000547431.1_3'UTR	p.P520fs	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN			15	1994_1995	+			520					Q92825|Q96KP3	Frame_Shift_Ins	INS	ENST00000243052.3	37	c.1558_1559insC	CCDS8882.1																																																																																				0.559	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			14	349						14	349	---	---	---	---
IKZF4	64375	broad.mit.edu	37	12	56429092	56429093	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr12:56429092_56429093insG	ENST00000262032.5	+	12	2102_2103	c.1735_1736insG	c.(1735-1737)cggfs	p.R579fs	IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.R579fs|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.R534fs|IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.R477fs			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	579					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCACATTGTCCGGGGGGAGCAT	0.554																																						ENST00000262032.5																			0				NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8						c.(1735-1737)gggfs		IKAROS family zinc finger 4 (Eos)																																				SO:0001589	frameshift_variant	64375				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:56429092_56429093insG	AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13179	protein-coding gene	gene with protein product		606239	"""zinc finger protein, subfamily 1A, 4 (Eos)"""	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.1741dupG	12.37:g.56429098_56429098dupG	ENSP00000262032:p.Arg579fs					IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.G477fs|IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.G534fs|IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.G579fs|RP11-603J24.4_ENST00000551846.1_RNA	p.G579fs			Q9H2S9	IKZF4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)		12	2102_2103	+			579					Q96JP3	Frame_Shift_Ins	INS	ENST00000262032.5	37	c.1735_1736insG	CCDS44917.1																																																																																				0.554	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407590.1	NM_022465		8	529						8	529	---	---	---	---
PA2G4	5036	broad.mit.edu	37	12	56505301	56505302	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr12:56505301_56505302insA	ENST00000303305.6	+	12	1526_1527	c.1107_1108insA	c.(1108-1110)aaafs	p.K370fs	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Intron	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	370	Interaction with RNA. {ECO:0000250}.|Necessary for nucleolar localization.				cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			CCCAGAAAAAGAAAAAAAAGAA	0.386																																						ENST00000303305.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(1105-1110)aaaaaafs		proliferation-associated 2G4, 38kDa																																				SO:0001589	frameshift_variant	5036				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr12:56505301_56505302insA	U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"""proliferation-associated 2G4, 38kD"""			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.1115dupA	12.37:g.56505309_56505309dupA	ENSP00000302886:p.Lys370fs					PA2G4_ENST00000552766.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA	p.KK369fs	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		12	1526_1527	+			369			Interaction with RNA (By similarity).|Necessary for nucleolar localization.		O43846|Q9UM59	Frame_Shift_Ins	INS	ENST00000303305.6	37	c.1107_1108insA	CCDS8902.1																																																																																				0.386	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191		7	177						7	177	---	---	---	---
BAZ2A	11176	broad.mit.edu	37	12	57009177	57009178	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr12:57009177_57009178insC	ENST00000551812.1	-	3	549_550	c.356_357insG	c.(355-357)ggafs	p.G119fs	BAZ2A_ENST00000179765.5_Frame_Shift_Ins_p.G117fs|BAZ2A_ENST00000379441.3_Frame_Shift_Ins_p.G119fs|BAZ2A_ENST00000549884.1_Frame_Shift_Ins_p.G117fs	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	119					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GTGGGTATTGTCCCCCCGAGAA	0.584																																						ENST00000179765.5																			0				breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						c.(349-351)gcafs		bromodomain adjacent to zinc finger domain, 2A																																				SO:0001589	frameshift_variant	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:57009177_57009178insC	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.357dupG	12.37:g.57009183_57009183dupC	ENSP00000446880:p.Gly119fs					BAZ2A_ENST00000551812.1_Frame_Shift_Ins_p.A119fs|BAZ2A_ENST00000379441.3_Frame_Shift_Ins_p.A119fs|BAZ2A_ENST00000549884.1_Frame_Shift_Ins_p.A117fs	p.A117fs			Q9UIF9	BAZ2A_HUMAN			3	549_550	-			119					B3KN66|O00536|O15030|Q68DI8|Q96H26	Frame_Shift_Ins	INS	ENST00000551812.1	37	c.350_351insG	CCDS44924.1																																																																																				0.584	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		7	223						7	223	---	---	---	---
NACA	4666	broad.mit.edu	37	12	57114417	57114418	+	Frame_Shift_Ins	INS	-	-	G	rs192511809	byFrequency	TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr12:57114417_57114418insG	ENST00000454682.1	-	3	1177_1178	c.896_897insC	c.(895-897)ccafs	p.P299fs	NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Frame_Shift_Ins_p.P299fs|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	299	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGAAAATCTGGGGGGGTGTT	0.49			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(895-897)cgafs		nascent polypeptide-associated complex alpha subunit																																				SO:0001589	frameshift_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57114417_57114418insG	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.897dupC	12.37:g.57114424_57114424dupG	ENSP00000403817:p.Pro299fs					NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Frame_Shift_Ins_p.R299fs	p.R299fs	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	1177_1178	-			0						Frame_Shift_Ins	INS	ENST00000454682.1	37	c.896_897insC																																																																																					0.490	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		7	68						7	68	---	---	---	---
STAT6	6778	broad.mit.edu	37	12	57499093	57499094	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr12:57499093_57499094insG	ENST00000300134.3	-	9	1166_1167	c.841_842insC	c.(841-843)cagfs	p.Q281fs	STAT6_ENST00000454075.3_Frame_Shift_Ins_p.Q281fs|STAT6_ENST00000543873.2_Frame_Shift_Ins_p.Q281fs|STAT6_ENST00000556155.1_Frame_Shift_Ins_p.Q281fs|STAT6_ENST00000538913.2_Frame_Shift_Ins_p.Q171fs|STAT6_ENST00000537215.2_Frame_Shift_Ins_p.Q171fs	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	281					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CTTCAGTACCTGGGGGGGCTGC	0.639																																						ENST00000300134.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(841-843)ggtfs		signal transducer and activator of transcription 6, interleukin-4 induced																																				SO:0001589	frameshift_variant	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57499093_57499094insG	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.842dupC	12.37:g.57499100_57499100dupG	ENSP00000300134:p.Gln281fs					STAT6_ENST00000537215.2_Frame_Shift_Ins_p.G171fs|STAT6_ENST00000454075.3_Frame_Shift_Ins_p.G281fs|STAT6_ENST00000543873.2_Frame_Shift_Ins_p.G281fs|STAT6_ENST00000538913.2_Frame_Shift_Ins_p.G171fs|STAT6_ENST00000556155.1_Frame_Shift_Ins_p.G281fs	p.G281fs	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN			9	1166_1167	-			281					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Frame_Shift_Ins	INS	ENST00000300134.3	37	c.841_842insC	CCDS8931.1																																																																																				0.639	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		10	109						10	109	---	---	---	---
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G	rs368789621		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr12:57860074_57860075insG	ENST00000228682.2	+	8	905_906	c.814_815insG	c.(814-816)tggfs	p.W272fs	GLI1_ENST00000543426.1_Frame_Shift_Ins_p.W144fs|GLI1_ENST00000546141.1_Frame_Shift_Ins_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)			CGTGTGCCACTGGGGGGGCTGC	0.599																																					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)gggfs		GLI family zinc finger 1																																				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.chr12:57860074_57860075insG		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.821dupG	12.37:g.57860081_57860081dupG	ENSP00000228682:p.Trp272fs					GLI1_ENST00000543426.1_Frame_Shift_Ins_p.G144fs|GLI1_ENST00000546141.1_Frame_Shift_Ins_p.G231fs	p.G272fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		8	905_906	+			272					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Frame_Shift_Ins	INS	ENST00000228682.2	37	c.814_815insG	CCDS8940.1																																																																																				0.599	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		20	429						20	429	---	---	---	---
IRAK3	11213	broad.mit.edu	37	12	66610953	66610954	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr12:66610953_66610954insA	ENST00000261233.4	+	6	1012_1013	c.591_592insA	c.(592-594)aaafs	p.K198fs	IRAK3_ENST00000457197.2_Frame_Shift_Ins_p.K137fs	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		ATATGTAGGAGAAAAAAATGCA	0.361																																						ENST00000261233.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.(589-594)gaaaaafs		interleukin-1 receptor-associated kinase 3																																				SO:0001589	frameshift_variant	11213				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66610953_66610954insA	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.598dupA	12.37:g.66610960_66610960dupA	ENSP00000261233:p.Lys198fs					IRAK3_ENST00000457197.2_Frame_Shift_Ins_p.EK136fs	p.EK197fs	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	6	1012_1013	+			197			Protein kinase.			Frame_Shift_Ins	INS	ENST00000261233.4	37	c.591_592insA	CCDS8975.1																																																																																				0.361	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			7	773						7	773	---	---	---	---
TMCC3	57458	broad.mit.edu	37	12	94975857	94975858	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr12:94975857_94975858insG	ENST00000261226.4	-	2	666_667	c.535_536insC	c.(535-537)catfs	p.H179fs	TMCC3_ENST00000551457.1_Frame_Shift_Ins_p.H148fs	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	179						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CTCCATGCAATGGGGGGCAGTT	0.495																																						ENST00000261226.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						c.(535-537)ttgfs		transmembrane and coiled-coil domain family 3																																				SO:0001589	frameshift_variant	57458					integral to membrane		g.chr12:94975857_94975858insG	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.536dupC	12.37:g.94975863_94975863dupG	ENSP00000261226:p.His179fs					TMCC3_ENST00000551457.1_Frame_Shift_Ins_p.L148fs	p.L179fs	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN			2	666_667	-			179					Q8IWB2	Frame_Shift_Ins	INS	ENST00000261226.4	37	c.535_536insC	CCDS31877.1																																																																																				0.495	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		8	190						8	190	---	---	---	---
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr12:120800902_120800903insC	ENST00000257552.2	-	6	433_434	c.345_346insG	c.(343-348)gggctgfs	p.L116fs	MSI1_ENST00000546622.1_5'Flank	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	116	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCACCGACAGCCCCCCCACAA	0.564																																						ENST00000257552.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19						c.(343-348)ggtgtcfs		musashi RNA-binding protein 1																																				SO:0001589	frameshift_variant	4440				nervous system development	cytoplasm|nucleus	nucleotide binding	g.chr12:120800902_120800903insC	AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	7330	protein-coding gene	gene with protein product		603328	"""Musashi (Drosophila) homolog 1"", ""musashi homolog 1 (Drosophila)"""			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.346dupG	12.37:g.120800909_120800909dupC	ENSP00000257552:p.Leu116fs						p.V116fs	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN			6	433_434	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		116			RRM 2.		Q96PU0|Q96PU1|Q96PU2|Q96PU3	Frame_Shift_Ins	INS	ENST00000257552.2	37	c.345_346insG	CCDS9196.1																																																																																				0.564	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		12	245						12	245	---	---	---	---
ATP12A	479	broad.mit.edu	37	13	25262563	25262564	+	Frame_Shift_Ins	INS	-	-	G	rs35191129		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr13:25262563_25262564insG	ENST00000381946.3	+	4	502_503	c.335_336insG	c.(334-339)gtggggfs	p.VG112fs	ATP12A_ENST00000218548.6_Frame_Shift_Ins_p.VG112fs			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	112					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.V112V(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		AAGCAGATGGTGGGGGGGTTCT	0.584																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			1	Substitution - coding silent(1)	p.V112V(1)	lung(1)	breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(334-336)gggfs		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)		,	1,4263		0,1,2131					,	5.0	1.0		dbSNP_126	234	5,8249		0,5,4122	no	frameshift,frameshift	ATP12A	NM_001676.5,NM_001185085.1	,	0,6,6253	A1A1,A1R,RR		0.0606,0.0235,0.0479	,	,		6,12512				SO:0001589	frameshift_variant	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25262563_25262564insG	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.342dupG	13.37:g.25262570_25262570dupG	ENSP00000371372:p.Val112fs					ATP12A_ENST00000381946.3_Frame_Shift_Ins_p.G112fs	p.G112fs	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	4	668_669	+		Lung SC(185;0.0225)|Breast(139;0.077)	112					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Frame_Shift_Ins	INS	ENST00000381946.3	37	c.335_336insG	CCDS31948.1																																																																																				0.584	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		43	1285						43	1285	---	---	---	---
OR4N5	390437	broad.mit.edu	37	14	20612063	20612064	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr14:20612063_20612064insC	ENST00000333629.1	+	1	169_170	c.169_170insC	c.(169-171)gccfs	p.A57fs	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGGGCTCACAGCCCCCCTCTAT	0.46																																						ENST00000333629.1																			0				endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29						c.(169-171)cccfs		olfactory receptor, family 4, subfamily N, member 5																																				SO:0001589	frameshift_variant	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612063_20612064insC		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.175dupC	14.37:g.20612069_20612069dupC	ENSP00000332110:p.Ala57fs						p.P57fs	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	169_170	+	all_cancers(95;0.00108)		57					Q6IF11	Frame_Shift_Ins	INS	ENST00000333629.1	37	c.169_170insC	CCDS32031.1																																																																																				0.460	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			7	859						7	859	---	---	---	---
FNTB	2342	broad.mit.edu	37	14	65520040	65520041	+	Frame_Shift_Ins	INS	-	-	G	rs374785351|rs149471226	byFrequency	TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr14:65520040_65520041insG	ENST00000246166.2	+	10	1274_1275	c.1040_1041insG	c.(1039-1044)gcggggfs	p.AG347fs	CHURC1-FNTB_ENST00000549987.1_Frame_Shift_Ins_p.AG382fs|MAX_ENST00000341653.2_Intron|FNTB_ENST00000542227.1_Frame_Shift_Ins_p.AG301fs|FNTB_ENST00000447296.2_Frame_Shift_Ins_p.AG381fs	NM_002028.3	NP_002019.1	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	347					negative regulation of cell proliferation (GO:0008285)|phototransduction, visible light (GO:0007603)|positive regulation of cell cycle (GO:0045787)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|protein farnesylation (GO:0018343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to cytokine (GO:0034097)|response to inorganic substance (GO:0010035)|response to organic cyclic compound (GO:0014070)|rhodopsin mediated signaling pathway (GO:0016056)|wound healing (GO:0042060)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	farnesyltranstransferase activity (GO:0004311)|protein farnesyltransferase activity (GO:0004660)|zinc ion binding (GO:0008270)	p.A347A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CAGTGCCCTGCGGGGGGGCTTC	0.599																																						ENST00000246166.2																			1	Substitution - coding silent(1)	p.A347A(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(1039-1041)gggfs		farnesyltransferase, CAAX box, beta																																				SO:0001589	frameshift_variant	2342							g.chr14:65520040_65520041insG		CCDS9769.1	14q23.3	2011-09-28			ENSG00000257365	ENSG00000257365			3785	protein-coding gene	gene with protein product		134636				8276393	Standard	NM_002028		Approved	FPTB		P49356	OTTHUMG00000142811	ENST00000246166.2:c.1047dupG	14.37:g.65520047_65520047dupG	ENSP00000246166:p.Ala347fs					CHURC1-FNTB_ENST00000448390.2_Frame_Shift_Ins_p.G103fs|CHURC1-FNTB_ENST00000542227.1_Frame_Shift_Ins_p.G301fs|CHURC1-FNTB_ENST00000447296.2_Frame_Shift_Ins_p.G381fs|MAX_ENST00000341653.2_Intron	p.G347fs	NM_002028.3	NP_002019.1				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)	10	1274_1275	+								B2RDX6|B4E1A0	Frame_Shift_Ins	INS	ENST00000246166.2	37	c.1040_1041insG	CCDS9769.1																																																																																				0.599	FNTB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000286392.1	NM_002028		8	50						8	50	---	---	---	---
GALNT16	57452	broad.mit.edu	37	14	69800299	69800300	+	Frame_Shift_Ins	INS	-	-	G	rs144140025		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr14:69800299_69800300insG	ENST00000337827.4	+	9	1276_1277	c.949_950insG	c.(949-951)tggfs	p.W317fs	GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.W317fs|GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.W317fs	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	317	Catalytic subdomain B.				protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GATGGACATCTGGGGGGGAGAG	0.47																																						ENST00000337827.4																			0											c.(949-951)gggfs		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																																				SO:0001589	frameshift_variant	57452							g.chr14:69800299_69800300insG	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.956dupG	14.37:g.69800306_69800306dupG	ENSP00000336729:p.Trp317fs					GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.G317fs|GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.G317fs	p.G317fs	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2					9	1276_1277	+								Q4KMG3|Q58A55|Q9ULT9	Frame_Shift_Ins	INS	ENST00000337827.4	37	c.949_950insG	CCDS32107.1																																																																																				0.470	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		7	151						7	151	---	---	---	---
ELMSAN1	91748	broad.mit.edu	37	14	74206605	74206606	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr14:74206605_74206606insG	ENST00000286523.5	-	2	888_889	c.106_107insC	c.(106-108)cagfs	p.Q36fs	ELMSAN1_ENST00000394071.2_Frame_Shift_Ins_p.Q36fs|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	36					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GATGGACTGCTGGGGGGGCTGC	0.668																																						ENST00000286523.5																			0											c.(106-108)gcafs		ELM2 and Myb/SANT-like domain containing 1																																				SO:0001589	frameshift_variant	91748							g.chr14:74206605_74206606insG	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.107dupC	14.37:g.74206612_74206612dupG	ENSP00000286523:p.Gln36fs					ELMSAN1_ENST00000394071.2_Frame_Shift_Ins_p.A36fs	p.A36fs	NM_194278.3	NP_919254.2					2	888_889	-								Q6PK13|Q6PK59|Q6ZS23	Frame_Shift_Ins	INS	ENST00000286523.5	37	c.106_107insC	CCDS9819.1																																																																																				0.668	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		7	95						7	95	---	---	---	---
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G	rs570771230|rs571384652	byFrequency	TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr15:22369023_22369024insG	ENST00000332663.2	+	1	546_547	c.448_449insG	c.(448-450)aggfs	p.R150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R150M(2)|p.R150W(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCTCCTGGAGGGGGGGCTTC	0.5													tgggggg|GGGGGGG|GGGGGGGG|complex_insertion	8	0.00159744	0.0045	0.0	5008	,	,		35803	0.0		0.0	False		,,,				2504	0.002					ENST00000332663.2																			3	Substitution - Missense(3)	p.R150M(2)|p.R150W(1)	lung(3)	NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63						c.(448-450)gggfs		olfactory receptor, family 4, subfamily M, member 2																																				SO:0001589	frameshift_variant	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369023_22369024insG	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.455dupG	15.37:g.22369030_22369030dupG	ENSP00000329467:p.Arg150fs					RP11-69H14.6_ENST00000558896.1_RNA	p.G150fs	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	546_547	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	150					B9EH16|Q6IEY2	Frame_Shift_Ins	INS	ENST00000332663.2	37	c.448_449insG	CCDS32172.1																																																																																				0.500	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			18	527						18	527	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28478873	28478874	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr15:28478873_28478874insG	ENST00000261609.7	-	28	4395_4396	c.4287_4288insC	c.(4285-4290)cccgagfs	p.E1430fs		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.P1429P(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACGGGATGCTCGGGGGGAAACA	0.45																																						ENST00000261609.7																			1	Substitution - coding silent(1)	p.P1429P(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(4285-4290)ccagcafs		HECT and RLD domain containing E3 ubiquitin protein ligase 2																																				SO:0001589	frameshift_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28478873_28478874insG	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.4288dupC	15.37:g.28478879_28478879dupG	ENSP00000261609:p.Glu1430fs						p.A1430fs	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	28	4395_4396	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1430						Frame_Shift_Ins	INS	ENST00000261609.7	37	c.4287_4288insC	CCDS10021.1																																																																																				0.450	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		7	135						7	135	---	---	---	---
C15orf52	388115	broad.mit.edu	37	15	40630771	40630772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr15:40630771_40630772insG	ENST00000559313.1	-	5	624_625	c.609_610insC	c.(607-612)cccacgfs	p.T204fs	C15orf52_ENST00000557973.1_5'Flank|C15orf52_ENST00000397536.2_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	204							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		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;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCCACCTGCGTGGGGGGGCTTC	0.584											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000559313.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19						c.(607-612)cccgcafs		chromosome 15 open reading frame 52																																				SO:0001589	frameshift_variant	388115							g.chr15:40630771_40630772insG	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.610dupC	15.37:g.40630778_40630778dupG	ENSP00000453969:p.Thr204fs		OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	894		p.A204fs	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	5	624_625	-		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)	204					B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Frame_Shift_Ins	INS	ENST00000559313.1	37	c.609_610insC	CCDS10055.2																																																																																				0.584	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2	NM_207380		7	156						7	156	---	---	---	---
ACSM2B	348158	broad.mit.edu	37	16	20556547	20556548	+	Frame_Shift_Ins	INS	-	-	G	rs367747928|rs146499503		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr16:20556547_20556548insG	ENST00000329697.6	-	10	1380_1381	c.1212_1213insC	c.(1210-1215)cccggcfs	p.G405fs	ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.G405fs|ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.G326fs|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.G405fs	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	405					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCTTCTGTGCCGGGGGGCAGGA	0.515																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(1210-1215)ccgcacfs		acyl-CoA synthetase medium-chain family member 2B																																				SO:0001589	frameshift_variant	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20556547_20556548insG	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1213dupC	16.37:g.20556553_20556553dupG	ENSP00000327453:p.Gly405fs					ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.H326fs|ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.H405fs	p.H405fs	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			10	1380_1381	-			405					Q86YT1	Frame_Shift_Ins	INS	ENST00000329697.6	37	c.1212_1213insC	CCDS10586.1																																																																																				0.515	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		9	191						9	191	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21063027	21063028	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr16:21063027_21063028insG	ENST00000261383.3	-	29	4200_4201	c.4201_4202insC	c.(4201-4203)cggfs	p.R1401fs	DNAH3_ENST00000415178.1_Frame_Shift_Ins_p.R1401fs	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1401	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GATCACCAGCCGGGGGGAGTTT	0.569																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(4201-4203)gctfs		dynein, axonemal, heavy chain 3																																				SO:0001589	frameshift_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21063027_21063028insG	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4202dupC	16.37:g.21063033_21063033dupG	ENSP00000261383:p.Arg1401fs					DNAH3_ENST00000415178.1_Frame_Shift_Ins_p.A1401fs	p.A1401fs	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	29	4200_4201	-			1401			AAA 1 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Frame_Shift_Ins	INS	ENST00000261383.3	37	c.4201_4202insC	CCDS10594.1																																																																																				0.569	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		12	289						12	289	---	---	---	---
ARHGAP17	55114	broad.mit.edu	37	16	24942179	24942180	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr16:24942179_24942180insG	ENST00000289968.6	-	19	2509_2510	c.2440_2441insC	c.(2440-2442)caafs	p.Q814fs	ARHGAP17_ENST00000303665.5_Frame_Shift_Ins_p.Q736fs|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	814	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		ACCAGGAGGTTGGGGGGGTGGG	0.574																																						ENST00000289968.6																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(2440-2442)accfs		Rho GTPase activating protein 17																																				SO:0001589	frameshift_variant	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24942179_24942180insG	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.2441dupC	16.37:g.24942186_24942186dupG	ENSP00000289968:p.Gln814fs					ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Frame_Shift_Ins_p.T736fs	p.T814fs	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	19	2509_2510	-			814			Pro-rich.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Frame_Shift_Ins	INS	ENST00000289968.6	37	c.2440_2441insC	CCDS32409.1																																																																																				0.574	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		8	95						8	95	---	---	---	---
TBX6	6911	broad.mit.edu	37	16	30100077	30100078	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr16:30100077_30100078insC	ENST00000395224.2	-	5	763_764	c.704_705insG	c.(703-705)ggcfs	p.G235fs	TBX6_ENST00000279386.2_Frame_Shift_Ins_p.G235fs|TBX6_ENST00000553607.1_Frame_Shift_Ins_p.G235fs	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	235					anatomical structure morphogenesis (GO:0009653)|cell fate specification (GO:0001708)|mesoderm development (GO:0007498)|mesoderm formation (GO:0001707)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						AGGAGGCCATGCCCCCCCAGTG	0.629																																						ENST00000553607.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						c.(703-705)gatfs		T-box 6																																				SO:0001589	frameshift_variant	6911				anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:30100077_30100078insC	AJ007989	CCDS10670.1	16p11.2	2008-02-05			ENSG00000149922	ENSG00000149922		"""T-boxes"""	11605	protein-coding gene	gene with protein product		602427				9888994, 9933572	Standard	NM_004608		Approved		uc010veh.2	O95947	OTTHUMG00000132115	ENST00000395224.2:c.705dupG	16.37:g.30100084_30100084dupC	ENSP00000378650:p.Gly235fs					TBX6_ENST00000395224.2_Frame_Shift_Ins_p.D235fs|TBX6_ENST00000279386.2_Frame_Shift_Ins_p.D235fs	p.D235fs			O95947	TBX6_HUMAN			4	1397_1398	-			235					Q8TAS4|Q9HA44	Frame_Shift_Ins	INS	ENST00000395224.2	37	c.704_705insG	CCDS10670.1																																																																																				0.629	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255157.2	NM_004608, NM_080758		8	131						8	131	---	---	---	---
MT4	84560	broad.mit.edu	37	16	56602768	56602769	+	Frame_Shift_Ins	INS	-	-	C	rs543306573	byFrequency	TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr16:56602768_56602769insC	ENST00000219162.3	+	3	193_194	c.113_114insC	c.(112-117)tgccccfs	p.CP38fs		NM_032935.2	NP_116324	P47944	MT4_HUMAN	metallothionein 4	38					cellular metal ion homeostasis (GO:0006875)		metal ion binding (GO:0046872)			ovary(1)|upper_aerodigestive_tract(1)	2						TGTCCCTGCTGCCCCCCGGGCT	0.599													CCCcCC|CCCCCC|CCCCCCC|insertion	3	0.000599042	0.0023	0.0	5008	,	,		18016	0.0		0.0	False		,,,				2504	0.0					ENST00000219162.3																			0				ovary(1)|upper_aerodigestive_tract(1)	2						c.(112-114)tccfs		metallothionein 4																																				SO:0001589	frameshift_variant	84560					cytoplasm	copper ion binding|zinc ion binding	g.chr16:56602768_56602769insC	BC113442	CCDS42165.1	16q13	2014-09-04	2007-01-26		ENSG00000102891	ENSG00000102891		"""Metallothioneins"""	18705	protein-coding gene	gene with protein product		606206	"""metallothionein IV"""			8003488	Standard	NM_032935		Approved	MTIV	uc002eje.1	P47944	OTTHUMG00000176863	ENST00000219162.3:c.119dupC	16.37:g.56602774_56602774dupC	ENSP00000219162:p.Cys38fs						p.S38fs	NM_032935.2	NP_116324.1	P47944	MT4_HUMAN			3	193_194	+			38					Q14DA1	Frame_Shift_Ins	INS	ENST00000219162.3	37	c.113_114insC	CCDS42165.1																																																																																				0.599	MT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434118.1	NM_032935		17	633						17	633	---	---	---	---
CLEC3A	10143	broad.mit.edu	37	16	78090272	78090272	+	RNA	DEL	G	G	-			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr16:78090272delG	ENST00000563114.1	-	0	41																											CAGGCAGGGTGGCCAGCTTGC	0.527																																						ENST00000563114.1																			0																																																			10143							g.chr16:78090272delG																													16.37:g.78090272delG														0	41	-									RNA	DEL	ENST00000563114.1	37																																																																																						0.527	RP11-281J9.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000434014.1			2	4						2	4	---	---	---	---
ALOX12	239	broad.mit.edu	37	17	6903739	6903740	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr17:6903739_6903740insC	ENST00000251535.6	+	7	945_946	c.892_893insC	c.(892-894)gccfs	p.A298fs	AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000575727.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	298	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.		A -> T.		aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATACCTGGCTGCCCCCCTCGTT	0.554																																						ENST00000251535.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						c.(892-894)cccfs		arachidonate 12-lipoxygenase																																				SO:0001589	frameshift_variant	239				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr17:6903739_6903740insC	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.898dupC	17.37:g.6903745_6903745dupC	ENSP00000251535:p.Ala298fs					AC027763.2_ENST00000574377.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399541.2_Intron	p.P298fs	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN			7	945_946	+			298		A -> T.	Lipoxygenase.		O95569|Q6ISF8|Q9UQM4	Frame_Shift_Ins	INS	ENST00000251535.6	37	c.892_893insC	CCDS11084.1																																																																																				0.554	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			7	671						7	671	---	---	---	---
EFNB3	1949	broad.mit.edu	37	17	7612855	7612856	+	Frame_Shift_Ins	INS	-	-	C	rs532773147	byFrequency	TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr17:7612855_7612856insC	ENST00000226091.2	+	5	1381_1382	c.984_985insC	c.(985-987)cccfs	p.P329fs		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	329					adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TGCAGGATGGGCCCCCCCAGAG	0.574																																						ENST00000226091.2																			0				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(982-987)ggccccfs		ephrin-B3																																				SO:0001589	frameshift_variant	1949				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr17:7612855_7612856insC	U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"""Ephrins"""	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.991dupC	17.37:g.7612862_7612862dupC	ENSP00000226091:p.Pro329fs						p.GP328fs	NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN			5	1381_1382	+		all_cancers(10;1.14e-06)|Prostate(122;0.081)	328					B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Frame_Shift_Ins	INS	ENST00000226091.2	37	c.984_985insC	CCDS11120.1																																																																																				0.574	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226965.1	NM_001406		9	158						9	158	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27963294	27963295	+	Frame_Shift_Ins	INS	-	-	G	rs562474149|rs35554312	byFrequency	TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr17:27963294_27963295insG	ENST00000269033.3	-	14	2023_2024	c.1872_1873insC	c.(1870-1875)cccatgfs	p.M625fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.M652fs	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	625					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAGGGGACATGGGGGGGTCTT	0.47																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1870-1875)cctgtcfs		slingshot protein phosphatase 2																																				SO:0001589	frameshift_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27963294_27963295insG	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1873dupC	17.37:g.27963301_27963301dupG	ENSP00000269033:p.Met625fs					RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.V652fs	p.V625fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			14	2023_2024	-			625					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Frame_Shift_Ins	INS	ENST00000269033.3	37	c.1872_1873insC	CCDS11253.1																																																																																				0.470	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		10	192						10	192	---	---	---	---
ACACA	31	broad.mit.edu	37	17	35600370	35600371	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr17:35600370_35600371insG	ENST00000394406.2	-	22	2926_2927	c.2736_2737insC	c.(2734-2739)cccaatfs	p.N913fs	ACACA_ENST00000353139.5_Frame_Shift_Ins_p.N950fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.N835fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.N855fs	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	913					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTCTCCACATTGGGGGGAATGC	0.47																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(2845-2850)ccatgtfs		acetyl-CoA carboxylase alpha	Biotin(DB00121)																																			SO:0001589	frameshift_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35600370_35600371insG	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.2737dupC	17.37:g.35600376_35600376dupG	ENSP00000377928:p.Asn913fs					ACACA_ENST00000335166.5_Frame_Shift_Ins_p.C835fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.C855fs|ACACA_ENST00000394406.2_Frame_Shift_Ins_p.C913fs	p.C950fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			22	3328_3329	-		Breast(25;0.00157)|Ovarian(249;0.15)	913					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Frame_Shift_Ins	INS	ENST00000394406.2	37	c.2847_2848insC	CCDS11317.1																																																																																				0.470	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		8	514						8	514	---	---	---	---
CDK12	51755	broad.mit.edu	37	17	37687471	37687472	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr17:37687471_37687472insG	ENST00000447079.4	+	14	4408_4409	c.4375_4376insG	c.(4375-4377)tggfs	p.W1459fs	CDK12_ENST00000430627.2_Frame_Shift_Ins_p.W1450fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1459					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGGCCTTCACTGGGGGGGCCCA	0.559			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(4375-4377)gggfs		cyclin-dependent kinase 12																																				SO:0001589	frameshift_variant	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37687471_37687472insG	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.4382dupG	17.37:g.37687478_37687478dupG	ENSP00000398880:p.Trp1459fs	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Frame_Shift_Ins_p.G1450fs	p.G1459fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			14	4408_4409	+			1459					A7E2B2|B4DYX4|B9EIQ6|O94978	Frame_Shift_Ins	INS	ENST00000447079.4	37	c.4375_4376insG	CCDS11337.1																																																																																				0.559	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		8	106						8	106	---	---	---	---
KRT26	353288	broad.mit.edu	37	17	38926341	38926342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr17:38926341_38926342insC	ENST00000335552.4	-	4	762_763	c.714_715insG	c.(712-717)gggaacfs	p.N239fs		NM_181539.4	NP_853517.2			keratin 26											central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				ACGTTCACGTTCCCCCCAGCTG	0.48																																						ENST00000335552.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16						c.(712-717)ggacgtfs		keratin 26																																				SO:0001589	frameshift_variant	353288					intermediate filament	structural molecule activity	g.chr17:38926341_38926342insC	AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30840	protein-coding gene	gene with protein product			"""keratin 25B"""	KRT25B		16831889	Standard	NM_181539		Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.715dupG	17.37:g.38926347_38926347dupC	ENSP00000334798:p.Asn239fs						p.R239fs	NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN			4	762_763	-		Breast(137;0.00526)	239			Linker 12.|Rod.			Frame_Shift_Ins	INS	ENST00000335552.4	37	c.714_715insG	CCDS11374.1																																																																																				0.480	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257215.1	NM_181539		7	237						7	237	---	---	---	---
KCNH4	23415	broad.mit.edu	37	17	40328258	40328259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr17:40328258_40328259insC	ENST00000264661.3	-	5	974_975	c.642_643insG	c.(640-645)gggtctfs	p.S215fs	KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.S215fs	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	215					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGGCAGCGAGACCCCCCCACGG	0.604																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(640-645)ggctcgfs		potassium voltage-gated channel, subfamily H (eag-related), member 4																																				SO:0001589	frameshift_variant	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40328258_40328259insC	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.643dupG	17.37:g.40328265_40328265dupC	ENSP00000264661:p.Ser215fs					KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.S215fs	p.S215fs	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	5	974_975	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	215						Frame_Shift_Ins	INS	ENST00000264661.3	37	c.642_643insG	CCDS11420.1																																																																																				0.604	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		11	316						11	316	---	---	---	---
MTMR4	9110	broad.mit.edu	37	17	56590245	56590246	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr17:56590245_56590246insG	ENST00000323456.5	-	3	184_185	c.60_61insC	c.(58-63)cccaagfs	p.K21fs	MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.K21fs	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	21					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.K21fs*20(1)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACTAGTTCCTTGGGGGGGAACA	0.569																																						ENST00000323456.5																			1	Insertion - Frameshift(1)	p.K21fs*20(1)	large_intestine(1)	breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(58-63)ccaggafs		myotubularin related protein 4																																				SO:0001589	frameshift_variant	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56590245_56590246insG	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.61dupC	17.37:g.56590252_56590252dupG	ENSP00000325285:p.Lys21fs					MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.G21fs	p.G21fs	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN			3	184_185	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		21					D3DTZ6|Q8IV27|Q9Y4D5	Frame_Shift_Ins	INS	ENST00000323456.5	37	c.60_61insC	CCDS11608.1																																																																																				0.569	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		7	111						7	111	---	---	---	---
MARCH10	162333	broad.mit.edu	37	17	60814265	60814266	+	Frame_Shift_Ins	INS	-	-	C	rs372503255		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr17:60814265_60814266insC	ENST00000311269.5	-	6	1237_1238	c.963_964insG	c.(961-966)gggacafs	p.T322fs	RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.T360fs|MARCH10_ENST00000544856.2_Frame_Shift_Ins_p.T321fs|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.T322fs|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000579201.1_RNA	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	322					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGGGTCGATGTCCCCCCAAATC	0.46																																						ENST00000544856.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						c.(958-963)ggcatcfs		membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	162333						ligase activity|zinc ion binding	g.chr17:60814265_60814266insC	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.964dupG	17.37:g.60814271_60814271dupC	ENSP00000311496:p.Thr322fs					MARCH10_ENST00000311269.5_Frame_Shift_Ins_p.I322fs|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.I322fs|MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.I360fs	p.I321fs			Q8NA82	MARHA_HUMAN			7	1338_1339	-			322					D3DU09|Q8IYS7|Q8N7Z7	Frame_Shift_Ins	INS	ENST00000311269.5	37	c.960_961insG	CCDS11635.1																																																																																				0.460	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		10	755						10	755	---	---	---	---
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G	rs200065915	byFrequency	TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr17:67083603_67083604insG	ENST00000284425.2	-	29	3883_3884	c.3709_3710insC	c.(3709-3711)caafs	p.Q1237fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1237					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCTCTACTTTGGGGGGAAATT	0.376																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(3709-3711)aagfs		ATP-binding cassette, sub-family A (ABC1), member 6																																				SO:0001589	frameshift_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67083603_67083604insG	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.3710dupC	17.37:g.67083609_67083609dupG	ENSP00000284425:p.Gln1237fs					ABCA6_ENST00000446604.2_5'UTR	p.K1237fs	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			29	3883_3884	-	Breast(10;5.65e-12)		1237					Q6NSH9|Q8N856|Q8WWZ6	Frame_Shift_Ins	INS	ENST00000284425.2	37	c.3709_3710insC	CCDS11683.1																																																																																				0.376	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		10	709						10	709	---	---	---	---
FAM104A	84923	broad.mit.edu	37	17	71223356	71223357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr17:71223356_71223357insG	ENST00000403627.3	-	2	328_329	c.268_269insC	c.(268-270)cagfs	p.Q90fs	FAM104A_ENST00000405159.3_Frame_Shift_Ins_p.Q90fs|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000581110.1_Intron	NM_032837.2	NP_116226.2	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	90										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTTTTGGTCTGGGGGGGAAGA	0.416																																						ENST00000405159.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(268-270)gacfs		family with sequence similarity 104, member A																																				SO:0001589	frameshift_variant	84923							g.chr17:71223356_71223357insG	AK027681	CCDS11693.2, CCDS45766.1, CCDS74143.1, CCDS74144.1	17q25.1	2005-12-16			ENSG00000133193	ENSG00000133193			25918	protein-coding gene	gene with protein product							Standard	NM_032837		Approved	FLJ14775	uc002jjj.4	Q969W3	OTTHUMG00000150564	ENST00000403627.3:c.269dupC	17.37:g.71223363_71223363dupG	ENSP00000384648:p.Gln90fs					FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs	p.D90fs	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		2	332_333	-			90					B4E339	Frame_Shift_Ins	INS	ENST00000403627.3	37	c.268_269insC	CCDS11693.2																																																																																				0.416	FAM104A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318935.1	NM_032837		9	198						9	198	---	---	---	---
PTBP1	5725	broad.mit.edu	37	19	797500	797500	+	Start_Codon_Del	DEL	G	G	-			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr19:797500delG	ENST00000349038.4	+	0	76				PTBP1_ENST00000350092.4_Start_Codon_Del|PTBP1_ENST00000356948.6_Start_Codon_Del|PTBP1_ENST00000394601.4_Start_Codon_Del	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1						alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGTGCCATGGACGGGTGAG	0.736																																						ENST00000356948.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19								polypyrimidine tract binding protein 1							25.0	21.0	23.0					19																	797500		2193	4296	6489	SO:0001582	initiator_codon_variant	5725				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding	g.chr19:797500delG	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599			19.37:g.797500delG						PTBP1_ENST00000394601.4_Start_Codon_Del|PTBP1_ENST00000349038.4_Start_Codon_Del|PTBP1_ENST00000350092.4_Start_Codon_Del		NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	0	426	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)						Q9BUQ0	Translation_Start_Site	DEL	ENST00000349038.4	37		CCDS32859.1																																																																																				0.736	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1			2	4						2	4	---	---	---	---
C3	718	broad.mit.edu	37	19	6697480	6697481	+	Frame_Shift_Ins	INS	-	-	G	rs137956083	byFrequency	TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr19:6697480_6697481insG	ENST00000245907.6	-	21	2762_2763	c.2670_2671insC	c.(2668-2673)cccaagfs	p.K891fs		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	891					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	AACGAGGACTTGGGGGGGATGG	0.574																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(2668-2673)ccagtcfs		complement component 3																																				SO:0001589	frameshift_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6697480_6697481insG	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2671dupC	19.37:g.6697487_6697487dupG	ENSP00000245907:p.Lys891fs						p.V891fs	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	21	2762_2763	-			891					A7E236	Frame_Shift_Ins	INS	ENST00000245907.6	37	c.2670_2671insC	CCDS32883.1																																																																																				0.574	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		8	159						8	159	---	---	---	---
SH2D3A	10045	broad.mit.edu	37	19	6754945	6754946	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr19:6754945_6754946insG	ENST00000245908.6	-	5	1146_1147	c.877_878insC	c.(877-879)cagfs	p.Q293fs	SH2D3A_ENST00000437152.3_Frame_Shift_Ins_p.Q171fs|SH2D3A_ENST00000599563.1_5'Flank	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	293					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGGCCGATTCTGGGGGCCCAGC	0.599																																						ENST00000245908.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						c.(877-879)gaafs		SH2 domain containing 3A																																				SO:0001589	frameshift_variant	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6754945_6754946insG	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.878dupC	19.37:g.6754950_6754950dupG	ENSP00000245908:p.Gln293fs					SH2D3A_ENST00000437152.3_Frame_Shift_Ins_p.E171fs	p.E293fs	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN			5	1146_1147	-			293					A8K9R6|B4DRS7|Q9Y2X4	Frame_Shift_Ins	INS	ENST00000245908.6	37	c.877_878insC	CCDS12173.1																																																																																				0.599	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		7	356						7	356	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G	rs558504850	byFrequency	TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr19:9064309_9064310insG	ENST00000397910.4	-	3	23339_23340	c.23136_23137insC	c.(23134-23139)ccctctfs	p.S7713fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7715	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGGGGAGAGGGGGGGATAT	0.53																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(23134-23139)ccctccfs		mucin 16, cell surface associated																																				SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9064309_9064310insG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23137dupC	19.37:g.9064316_9064316dupG	ENSP00000381008:p.Ser7713fs						p.S7713fs	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	23339_23340	-			7715			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	c.23136_23137insC	CCDS54212.1																																																																																				0.530	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	285						8	285	---	---	---	---
ANGPTL6	83854	broad.mit.edu	37	19	10204185	10204186	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr19:10204185_10204186insC	ENST00000253109.4	-	5	1299_1300	c.1061_1062insG	c.(1060-1062)ggcfs	p.G354fs	ANGPTL6_ENST00000592641.1_Frame_Shift_Ins_p.G354fs|ANGPTL6_ENST00000589181.1_Frame_Shift_Ins_p.G314fs	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	354	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			GTGCTCCACGGCCCCCCCAGTC	0.639																																						ENST00000253109.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12						c.(1060-1062)gcgfs		angiopoietin-like 6																																				SO:0001589	frameshift_variant	83854				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding	g.chr19:10204185_10204186insC	AB054064	CCDS12224.1	19p13.2	2013-02-06				ENSG00000130812		"""Fibrinogen C domain containing"""	23140	protein-coding gene	gene with protein product	"""angiopoietin-related protein 5"""	609336				12871997	Standard	NM_031917		Approved	ARP5, AGF	uc002mmy.1	Q8NI99		ENST00000253109.4:c.1062dupG	19.37:g.10204192_10204192dupC	ENSP00000253109:p.Gly354fs					ANGPTL6_ENST00000592641.1_Frame_Shift_Ins_p.A354fs|ANGPTL6_ENST00000589181.1_Frame_Shift_Ins_p.A314fs	p.A354fs	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)		5	1299_1300	-			354			Fibrinogen C-terminal.		A5PKV7|Q9BZZ0	Frame_Shift_Ins	INS	ENST00000253109.4	37	c.1061_1062insG	CCDS12224.1																																																																																				0.639	ANGPTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451142.1	NM_031917		7	57						7	57	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769061	31769062	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr19:31769061_31769062insC	ENST00000240587.4	-	2	1964_1965	c.1637_1638insG	c.(1636-1638)ggcfs	p.G546fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	546					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGCTGGGATAGCCCCCCCAGCT	0.559																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1636-1638)gtafs		teashirt zinc finger homeobox 3				4,4260		0,4,2128						4.2	1.0			120	7,8247		0,7,4120	no	frameshift	TSHZ3	NM_020856.2		0,11,6248	A1A1,A1R,RR		0.0848,0.0938,0.0879				11,12507				SO:0001589	frameshift_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769061_31769062insC	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1638dupG	19.37:g.31769068_31769068dupC	ENSP00000240587:p.Gly546fs						p.V546fs	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	1964_1965	-	Esophageal squamous(110;0.226)		546					Q9H0G6|Q9P254	Frame_Shift_Ins	INS	ENST00000240587.4	37	c.1637_1638insG	CCDS12421.2																																																																																				0.559	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		10	188						10	188	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr19:31769141_31769142insC	ENST00000240587.4	-	2	1884_1885	c.1557_1558insG	c.(1555-1560)gggcttfs	p.L520fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	520					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGATATCAAGCCCCCCCTTGG	0.5																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1555-1560)ggttgafs		teashirt zinc finger homeobox 3																																				SO:0001589	frameshift_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769141_31769142insC	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1558dupG	19.37:g.31769148_31769148dupC	ENSP00000240587:p.Leu520fs						p.*520fs	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	1884_1885	-	Esophageal squamous(110;0.226)		520					Q9H0G6|Q9P254	Frame_Shift_Ins	INS	ENST00000240587.4	37	c.1557_1558insG	CCDS12421.2																																																																																				0.500	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		15	355						15	355	---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	byFrequency	TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr19:43439519_43439520insC	ENST00000406070.2	-	0	527				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515																																						ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)																																						5676				female pregnancy	extracellular region		g.chr19:43439519_43439520insC			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439525_43439525dupC						PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN			0	527	-		Prostate(69;0.00682)						Q15232	RNA	INS	ENST00000406070.2	37																																																																																						0.515	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		13	637						13	637	---	---	---	---
TEAD2	8463	broad.mit.edu	37	19	49850472	49850473	+	Frame_Shift_Ins	INS	-	-	G	rs568692724		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr19:49850472_49850473insG	ENST00000311227.2	-	9	973_974	c.883_884insC	c.(883-885)catfs	p.H295fs	TEAD2_ENST00000598810.1_Frame_Shift_Ins_p.H299fs|TEAD2_ENST00000377214.4_Frame_Shift_Ins_p.H298fs|TEAD2_ENST00000593945.1_Frame_Shift_Ins_p.H299fs|TEAD2_ENST00000598397.1_5'Flank|TEAD2_ENST00000539846.1_Frame_Shift_Ins_p.H167fs|TEAD2_ENST00000601519.1_Frame_Shift_Ins_p.H298fs	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	295	Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H295fs*12(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GAAGAAGGCATGGGGGGGGCCA	0.564																																						ENST00000377214.4																			1	Deletion - Frameshift(1)	p.H295fs*12(1)	ovary(1)	central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29						c.(892-894)tgcfs		TEA domain family member 2																																				SO:0001589	frameshift_variant	8463				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:49850472_49850473insG	X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.884dupC	19.37:g.49850480_49850480dupG	ENSP00000310701:p.His295fs					TEAD2_ENST00000601519.1_Frame_Shift_Ins_p.C298fs|TEAD2_ENST00000593945.1_Frame_Shift_Ins_p.C299fs|TEAD2_ENST00000539846.1_Frame_Shift_Ins_p.C167fs|TEAD2_ENST00000598810.1_Frame_Shift_Ins_p.C299fs|TEAD2_ENST00000311227.2_Frame_Shift_Ins_p.C295fs	p.C298fs			Q15562	TEAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)	8	1254_1255	-		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)	295			Transcriptional activation (Potential).		B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Frame_Shift_Ins	INS	ENST00000311227.2	37	c.892_893insC	CCDS12761.1																																																																																				0.564	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1	NM_003598		20	331						20	331	---	---	---	---
TSKS	60385	broad.mit.edu	37	19	50243063	50243064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr19:50243063_50243064insG	ENST00000246801.3	-	11	1830_1831	c.1748_1749insC	c.(1747-1749)ccafs	p.P583fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.P383fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	583					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCCCCTGTTTTGGGGGGGTTCC	0.545																																						ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(1747-1749)caafs		testis-specific serine kinase substrate																																				SO:0001589	frameshift_variant	60385						protein binding	g.chr19:50243063_50243064insG	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1749dupC	19.37:g.50243070_50243070dupG	ENSP00000246801:p.Pro583fs					TSKS_ENST00000358830.3_Frame_Shift_Ins_p.Q383fs	p.Q583fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	11	1830_1831	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	583					Q8WXJ0	Frame_Shift_Ins	INS	ENST00000246801.3	37	c.1748_1749insC	CCDS12780.1																																																																																				0.545	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		11	243						11	243	---	---	---	---
GPR32	2854	broad.mit.edu	37	19	51274914	51274915	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr19:51274914_51274915insC	ENST00000270590.4	+	1	1194_1195	c.1057_1058insC	c.(1057-1059)gccfs	p.A353fs		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	353					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCGTGGCAACGCCCCCCGGGAA	0.525																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	ENST00000270590.4																			0				breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(1057-1059)cccfs		G protein-coupled receptor 32																																				SO:0001589	frameshift_variant	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274914_51274915insC	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.1063dupC	19.37:g.51274920_51274920dupC	ENSP00000270590:p.Ala353fs						p.P353fs	NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	1194_1195	+		all_neural(266;0.131)	353					Q502U7|Q6NWS5	Frame_Shift_Ins	INS	ENST00000270590.4	37	c.1057_1058insC	CCDS12801.1																																																																																				0.525	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			7	127						7	127	---	---	---	---
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr19:51326962_51326963insC	ENST00000301420.2	-	1	77_78	c.42_43insG	c.(40-45)gggactfs	p.T15fs	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	15						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Aprotinin(DB06692)	GTCTCACCAGTCCCCCCCAGGG	0.653																																						ENST00000301420.2																			0				breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13						c.(40-45)ggctggfs		kallikrein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	3816				proteolysis	nucleus	serine-type endopeptidase activity	g.chr19:51326962_51326963insC	L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3.4.21.35	"""Kallikreins"""	6357	protein-coding gene	gene with protein product		147910	"""kallikrein 1, renal/pancreas/salivary"""			1684954, 16800724, 16800723	Standard	NM_002257		Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.43dupG	19.37:g.51326969_51326969dupC	ENSP00000301420:p.Thr15fs					KLK1_ENST00000448701.2_5'UTR	p.W15fs	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	1	77_78	-		all_neural(266;0.0199)	15					Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Frame_Shift_Ins	INS	ENST00000301420.2	37	c.42_43insG	CCDS12804.1																																																																																				0.653	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464135.2	NM_002257		9	215						9	215	---	---	---	---
NRSN2	80023	broad.mit.edu	37	20	333922	333923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr20:333922_333923insC	ENST00000382291.3	+	4	498_499	c.258_259insC	c.(259-261)cccfs	p.P87fs	NRSN2_ENST00000608736.1_Intron|NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.P87fs|NRSN2_ENST00000492242.1_3'UTR	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	87						integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				GCTATGCAGTGCCCCCCAAGCT	0.644																																						ENST00000382291.3																			0				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8						c.(256-261)gtccccfs		neurensin 2																																				SO:0001589	frameshift_variant	80023					integral to membrane|plasma membrane|transport vesicle		g.chr20:333922_333923insC	AL136915	CCDS12996.1	20p13	2008-02-04	2006-07-04	2006-07-04	ENSG00000125841	ENSG00000125841			16229	protein-coding gene	gene with protein product		610666	"""chromosome 20 open reading frame 98"""	C20orf98		16527258	Standard	NM_024958		Approved	dJ1103G7.6	uc002wdi.4	Q9GZP1	OTTHUMG00000031628	ENST00000382291.3:c.264dupC	20.37:g.333928_333928dupC	ENSP00000371728:p.Pro87fs					NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.VP86fs	p.VP86fs	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN			4	498_499	+		all_cancers(10;0.0834)	86					A8K3B2|Q6FII5|Q9NUD3	Frame_Shift_Ins	INS	ENST00000382291.3	37	c.258_259insC	CCDS12996.1																																																																																				0.644	NRSN2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077446.1	NM_024958		11	277						11	277	---	---	---	---
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr20:23667825_23667826insC	ENST00000217423.3	-	2	311_312	c.241_242insG	c.(241-243)gtgfs	p.V81fs		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	81					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GAAGTAATTCACCCCCCCAAAG	0.554																																						ENST00000217423.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16						c.(241-243)gaafs		cystatin S																																				SO:0001589	frameshift_variant	1472					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23667825_23667826insC		CCDS13159.1	20p11.2	2008-04-15			ENSG00000101441	ENSG00000101441			2476	protein-coding gene	gene with protein product		123857				1801729	Standard	NM_001899		Approved		uc002wto.1	P01036	OTTHUMG00000032083	ENST00000217423.3:c.242dupG	20.37:g.23667832_23667832dupC	ENSP00000217423:p.Val81fs						p.E81fs	NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN			2	311_312	-	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)		81					Q9UBI5|Q9UCS9	Frame_Shift_Ins	INS	ENST00000217423.3	37	c.241_242insG	CCDS13159.1																																																																																				0.554	CST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078349.2	NM_001899		10	194						10	194	---	---	---	---
CNBD2	140894	broad.mit.edu	37	20	34618503	34618504	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr20:34618503_34618504insC	ENST00000373973.3	+	12	1837_1838	c.1664_1665insC	c.(1663-1668)ctccccfs	p.LP555fs	CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Frame_Shift_Ins_p.LP551fs			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	555																	CAGAAATACCTCCCCCCATTGA	0.455																																						ENST00000373973.3																			0											c.(1663-1665)cccfs		cyclic nucleotide binding domain containing 2																																				SO:0001589	frameshift_variant	140894							g.chr20:34618503_34618504insC	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1670dupC	20.37:g.34618509_34618509dupC	ENSP00000363084:p.Leu555fs					CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Frame_Shift_Ins_p.P551fs	p.P555fs							12	1837_1838	+								Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Frame_Shift_Ins	INS	ENST00000373973.3	37	c.1664_1665insC																																																																																					0.455	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		7	637						7	637	---	---	---	---
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G	rs559154076	byFrequency	TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)cccaatfs	p.N103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2. {ECO:0000255|PROSITE- ProRule:PRU00722}.				negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)	extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535																																					GBM(64;162 1089 31780 33427 34538)	ENST00000338380.2																			0				lung(3)|ovary(1)	4						c.(304-309)ccatttfs		secretory leukocyte peptidase inhibitor																																				SO:0001589	frameshift_variant	6590					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:43881730_43881731insG	X04502	CCDS13347.1	20q13.12	2013-01-21	2005-08-17		ENSG00000124107	ENSG00000124107		"""WAP four-disulfide core domain containing"""	11092	protein-coding gene	gene with protein product	"""antileukoproteinase"""	107285	"""secretory leukocyte protease inhibitor (antileukoproteinase)"""			3640338, 12206714	Standard	NM_003064		Approved	HUSI-I, ALK1, ALP, BLPI, HUSI, WAP4, WFDC4	uc002xnm.1	P03973	OTTHUMG00000033075	ENST00000338380.2:c.307dupC	20.37:g.43881737_43881737dupG	ENSP00000342082:p.Asn103fs						p.F103fs	NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN			3	326_327	-		Myeloproliferative disorder(115;0.0122)	103			Elastase inhibitory domain.|WAP 2.		B2R5H8|P07757	Frame_Shift_Ins	INS	ENST00000338380.2	37	c.306_307insC	CCDS13347.1																																																																																				0.535	SLPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080494.3			11	249						11	249	---	---	---	---
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr20:47989771_47989772insG	ENST00000371741.4	-	2	2491_2492	c.2325_2326insC	c.(2323-2328)cccaaafs	p.K776fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	776					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	GGGAGGCTTTTGGGGGGGCTGG	0.545																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(2323-2328)ccaaagfs		potassium voltage-gated channel, Shab-related subfamily, member 1																																				SO:0001589	frameshift_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47989771_47989772insG	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2326dupC	20.37:g.47989778_47989778dupG	ENSP00000360806:p.Lys776fs						p.PK775fs	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	2491_2492	-			775					Q14193	Frame_Shift_Ins	INS	ENST00000371741.4	37	c.2325_2326insC	CCDS13418.1																																																																																				0.545	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		28	571						28	571	---	---	---	---
OSBPL2	9885	broad.mit.edu	37	20	60854257	60854258	+	Frame_Shift_Ins	INS	-	-	C	rs79735057		TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr20:60854257_60854258insC	ENST00000313733.3	+	7	738_739	c.536_537insC	c.(535-540)caccccfs	p.HP179fs	OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.HP87fs|OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.HP167fs	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	179					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GTCAGTCACCACCCCCCCATCA	0.465																																						ENST00000313733.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(535-537)cccfs		oxysterol binding protein-like 2			,	18,4246		0,18,2114					,	4.9	1.0			111	7,8247		0,7,4120	no	frameshift,frameshift	OSBPL2	NM_144498.1,NM_014835.2	,	0,25,6234	A1A1,A1R,RR		0.0848,0.4221,0.1997	,	,		25,12493				SO:0001589	frameshift_variant	9885				lipid transport		lipid binding	g.chr20:60854257_60854258insC	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.543dupC	20.37:g.60854264_60854264dupC	ENSP00000316649:p.His179fs					OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.P87fs|OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.P167fs	p.P179fs	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		7	738_739	+	Breast(26;7.76e-09)		179					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Frame_Shift_Ins	INS	ENST00000313733.3	37	c.536_537insC	CCDS13495.1																																																																																				0.465	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835		12	144						12	144	---	---	---	---
KRTAP26-1	388818	broad.mit.edu	37	21	31691917	31691918	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr21:31691917_31691918insG	ENST00000360542.3	-	1	689_690	c.436_437insC	c.(436-438)caafs	p.Q146fs		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	146						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						CAAGCAGAATTGGGGGCGATAG	0.55																																						ENST00000360542.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(436-438)attfs		keratin associated protein 26-1																																				SO:0001589	frameshift_variant	388818					intermediate filament		g.chr21:31691917_31691918insG	AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"""Keratin associated proteins"""	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.437dupC	21.37:g.31691922_31691922dupG	ENSP00000353742:p.Gln146fs						p.I146fs	NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN			1	689_690	-			146					B0RZD3	Frame_Shift_Ins	INS	ENST00000360542.3	37	c.436_437insC	CCDS13588.1																																																																																				0.550	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128218.1	NM_203405		7	428						7	428	---	---	---	---
CECR2	27443	broad.mit.edu	37	22	18022285	18022286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr22:18022285_18022286insC	ENST00000400585.2	+	16	2402_2403	c.1964_1965insC	c.(1963-1968)gtccccfs	p.VP655fs	CECR2_ENST00000262608.8_Frame_Shift_Ins_p.VP797fs|CECR2_ENST00000400573.5_Frame_Shift_Ins_p.VP796fs			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	838					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGACCACCTGTCCCCCCCAACC	0.609																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(2389-2391)gccfs		cat eye syndrome chromosome region, candidate 2																																				SO:0001589	frameshift_variant	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18022285_18022286insC	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1971dupC	22.37:g.18022292_18022292dupC	ENSP00000383428:p.Val655fs					CECR2_ENST00000400585.2_Frame_Shift_Ins_p.A655fs|CECR2_ENST00000400573.4_Frame_Shift_Ins_p.A796fs	p.A797fs	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2390_2391	+		all_epithelial(15;0.139)	838					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Frame_Shift_Ins	INS	ENST00000400585.2	37	c.2390_2391insC																																																																																					0.609	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		7	127						7	127	---	---	---	---
BMS1P20	96610	broad.mit.edu	37	22	22661173	22661174	+	RNA	INS	-	-	C	rs377142963|rs7410785	byFrequency	TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr22:22661173_22661174insC	ENST00000426066.1	+	0	265_266					NR_027293.1				BMS1 pseudogene 20																		ATACAGGTTTTCCCCCCCCACC	0.406																																						ENST00000426066.1																			0																																																			96610							g.chr22:22661173_22661174insC			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661181_22661181dupC								NR_027293.1						0	265_266	+									RNA	INS	ENST00000426066.1	37																																																																																						0.406	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			10	88						10	88	---	---	---	---
DDX17	10521	broad.mit.edu	37	22	38895454	38895455	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr22:38895454_38895455insC	ENST00000396821.3	-	3	587_588	c.488_489insG	c.(487-489)ggafs	p.G163fs	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	163					ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)	p.G163fs*20(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCAC	0.381																																					Ovarian(55;1085 1454 6392 21425)	ENST00000396821.3																			1	Deletion - Frameshift(1)	p.G163fs*20(1)	lung(1)	breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(487-489)ggafs		DEAD (Asp-Glu-Ala-Asp) box helicase 17																																				SO:0001589	frameshift_variant	10521				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	g.chr22:38895454_38895455insC	U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"""DEAD-boxes"""	2740	protein-coding gene	gene with protein product		608469	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"""			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.489dupG	22.37:g.38895461_38895461dupC	ENSP00000380033:p.Gly163fs					DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs|DDX17_ENST00000432525.1_5'UTR	p.G163fs	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN			3	587_588	-	Melanoma(58;0.0286)		84			Helicase ATP-binding.		B1AHM0|Q69YT1|Q6ICD6	Frame_Shift_Ins	INS	ENST00000396821.3	37	c.488_489insG	CCDS46706.1																																																																																				0.381	DDX17-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321476.2	NM_030881		10	163						10	163	---	---	---	---
SSX3	10214	broad.mit.edu	37	X	48207024	48207025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chrX:48207024_48207025insC	ENST00000298396.2	-	7	533_534	c.481_482insG	c.(481-483)gaafs	p.E161fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.E73fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	161					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(1)|lung(9)	13						CCAGGCATGTTCCCCCCTTTTG	0.48																																					Colon(37;227 826 19399 40970 48007)	ENST00000298396.2																			0				endometrium(3)|large_intestine(1)|lung(9)	13						c.(481-483)acafs		synovial sarcoma, X breakpoint 3																																				SO:0001589	frameshift_variant	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48207024_48207025insC	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.482dupG	X.37:g.48207030_48207030dupC	ENSP00000298396:p.Glu161fs					SSX3_ENST00000376895.1_Frame_Shift_Ins_p.T73fs	p.T161fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN			7	533_534	-			161					O60223|Q5JQZ3|Q9BRW7	Frame_Shift_Ins	INS	ENST00000298396.2	37	c.481_482insG	CCDS14291.1																																																																																				0.480	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		7	549						7	549	---	---	---	---
LINC01317	104355287	broad.mit.edu	37	2	34441226	34441227	+	lincRNA	DEL	TG	TG	-	rs550557509		TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr2:34441226_34441227delTG	ENST00000366209.2	+	0	389																											gaagtgtatatgtgtgtgtgtg	0.47																																						ENST00000366209.2																			0																																																			104355287							g.chr2:34441226_34441227delTG																													2.37:g.34441236_34441237delTG														0	389	+									RNA	DEL	ENST00000366209.2	37																																																																																						0.470	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	lincRNA	OTTHUMT00000325406.1			2	4						2	4	---	---	---	---
ENTPD3-AS1	285266	broad.mit.edu	37	3	40418607	40418610	+	RNA	DEL	AGGA	AGGA	-	rs112497421		TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr3:40418607_40418610delAGGA	ENST00000439293.1	-	0	143									ENTPD3 antisense RNA 1																		ggagggagggaggaaggaaggaag	0.554																																						ENST00000439293.1																			0																																																			285266							g.chr3:40418607_40418610delAGGA			3p22.1	2012-10-12	2012-08-15		ENSG00000223797	ENSG00000223797		"""Long non-coding RNAs"""	26710	non-coding RNA	RNA, long non-coding			"""ENTPD3 antisense RNA 1 (non-protein coding)"""			12477932	Standard	NR_040100		Approved	FLJ36665	uc003cke.4		OTTHUMG00000156074		3.37:g.40418615_40418618delAGGA														0	143	-									RNA	DEL	ENST00000439293.1	37																																																																																						0.554	ENTPD3-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000342936.1	NR_040100		5	6						5	6	---	---	---	---
LSMEM2	132228	broad.mit.edu	37	3	50314241	50314241	+	5'Flank	DEL	T	T	-			TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr3:50314241delT	ENST00000316436.3	+	0	0				SEMA3B_ENST00000418948.1_RNA	NM_153215.1	NP_694947.1	Q8N112	LSME2_HUMAN	leucine-rich single-pass membrane protein 2							integral component of membrane (GO:0016021)											ACATTGGGGGTCACCGGCCGA	0.622																																						ENST00000418948.1																			0				central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6								sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B																																				SO:0001631	upstream_gene_variant	7869				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity	g.chr3:50314241delT	AK095927	CCDS2814.1	3p21.31	2013-03-08	2013-03-08	2013-03-08	ENSG00000179564	ENSG00000179564			26781	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 45"""	C3orf45			Standard	NM_153215		Approved	FLJ38608	uc003cyz.3	Q8N112	OTTHUMG00000156938		3.37:g.50314241delT	Exception_encountered									Q13214	SEM3B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	0	2588	+									RNA	DEL	ENST00000316436.3	37		CCDS2814.1																																																																																				0.622	LSMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346671.1	NM_153215		2	4						2	4	---	---	---	---
KIAA0408	9729	broad.mit.edu	37	6	127768325	127768329	+	Frame_Shift_Del	DEL	TTCTG	TTCTG	-			TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr6:127768325_127768329delTTCTG	ENST00000483725.3	-	5	1471_1475	c.1135_1139delCAGAA	c.(1135-1140)cagaaafs	p.QK379fs	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	379										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		AGAGCAGGTTTTCTGAAACCACGAA	0.434																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(1135-1140)afs		KIAA0408																																				SO:0001589	frameshift_variant	9729						protein binding	g.chr6:127768325_127768329delTTCTG	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1135_1139delCAGAA	6.37:g.127768325_127768329delTTCTG	ENSP00000435150:p.Gln379fs					SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	p.QK379fs	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	5	1471_1475	-			379					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Frame_Shift_Del	DEL	ENST00000483725.3	37	c.1135_1139delCAGAA	CCDS34531.1																																																																																				0.434	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		9	273						9	273	---	---	---	---
LINC01410	103352539	broad.mit.edu	37	9	66459739	66459740	+	lincRNA	INS	-	-	T	rs141706281|rs55835826|rs140714447|rs58876961|rs61190665		TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr9:66459739_66459740insT	ENST00000424345.1	+	0	67				RNA5SP283_ENST00000365604.1_RNA																							atttctttcagttttttttttt	0.292																																						ENST00000424345.1																			0																																																			103352539							g.chr9:66459739_66459740insT																													9.37:g.66459750_66459750dupT														0	67	+									RNA	INS	ENST00000424345.1	37																																																																																						0.292	RP11-262H14.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000128851.1			5	4						5	4	---	---	---	---
NPIPB3	23117	broad.mit.edu	37	16	21415876	21415894	+	Frame_Shift_Del	DEL	GCGGCCCCCGCAGACGCTC	GCGGCCCCCGCAGACGCTC	-			TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr16:21415876_21415894delGCGGCCCCCGCAGACGCTC	ENST00000448012.2	-	9	1269_1287	c.1230_1248delGAGCGTCTGCGGGGGCCGC	c.(1228-1248)ccgagcgtctgcgggggccgcfs	p.PSVCGGR410fs	NPIPB3_ENST00000542817.1_Intron|NPIPB3_ENST00000458643.2_Frame_Shift_Del_p.ERLRGPL272fs	NM_130464.2	NP_569731.2	Q92617	NPIB3_HUMAN	nuclear pore complex interacting protein family, member B3	570	Pro-rich.					integral component of membrane (GO:0016021)											GAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTC	0.562																																						ENST00000458643.2																			0											c.(814-834)ttfs		nuclear pore complex interacting protein family, member B3																																				SO:0001589	frameshift_variant	23117							g.chr16:21415876_21415894delGCGGCCCCCGCAGACGCTC			16p12.2	2013-06-11	2013-06-11	2013-06-11	ENSG00000169246	ENSG00000169246			28989	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 3"""	NPIPL3		11948212	Standard	NM_130464		Approved	KIAA0220	uc021tei.1	Q92617	OTTHUMG00000163506	ENST00000448012.2:c.1230_1248delGAGCGTCTGCGGGGGCCGC	16.37:g.21415876_21415894delGCGGCCCCCGCAGACGCTC	ENSP00000390496:p.Pro410fs					NPIPB3_ENST00000448012.2_Frame_Shift_Del_p.PSVCGGR410fs|NPIPB3_ENST00000542817.1_Intron	p.ERLRGPL272fs							7	1365_1383	-								O43332|Q504Q6|Q59F29|Q6GMR1|Q6P7T2|Q6PIE2|Q6RH21	Frame_Shift_Del	DEL	ENST00000448012.2	37	c.814_832delGAGCGTCTGCGGGGGCCGC																																																																																					0.562	NPIPB3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_130464		2	4						2	4	---	---	---	---
LINC00669	647946	broad.mit.edu	37	18	37248431	37248454	+	lincRNA	DEL	AGGGAGGAAGGAAGGAAGGAAGGA	AGGGAGGAAGGAAGGAAGGAAGGA	-	rs374466776|rs200479778|rs140841760|rs150930477|rs200157609|rs371433352		TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr18:37248431_37248454delAGGGAGGAAGGAAGGAAGGAAGGA	ENST00000591629.1	-	0	282					NR_024391.1				long intergenic non-protein coding RNA 669																		ggagggagggagggaggaaggaaggaaggaaggaaggaaggaag	0.402																																						ENST00000591629.1																			0																																																			647946							g.chr18:37248431_37248454delAGGGAGGAAGGAAGGAAGGAAGGA	AK090603, BG220862, DB038664		18q12.2-q12.3	2012-10-12				ENSG00000267374		"""Long non-coding RNAs"""	44332	non-coding RNA	RNA, long non-coding							Standard	NR_024391		Approved		uc002lak.1				18.37:g.37248431_37248454delAGGGAGGAAGGAAGGAAGGAAGGA								NR_024391.1						0	282	-									RNA	DEL	ENST00000591629.1	37																																																																																						0.402	LINC00669-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000441462.1	NR_024391		5	9						5	9	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11089271	11089273	+	RNA	DEL	CAC	CAC	-	rs398101484|rs78525052|rs79120422	byFrequency	TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr21:11089271_11089273delCAC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gtaatcccaacactttggaaggc	0.433																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11089271_11089273delCAC	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.11089271_11089273delCAC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.433	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
LINC00229	414351	broad.mit.edu	37	22	45015083	45015084	+	lincRNA	DEL	GT	GT	-	rs575043184|rs67676087|rs36220219	byFrequency	TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr22:45015083_45015084delGT	ENST00000443783.1	-	0	390					NR_044991.1				long intergenic non-protein coding RNA 229																		gtactgtggagtgtgtgtgtgt	0.515																																						ENST00000443783.1																			0																																																			414351							g.chr22:45015083_45015084delGT			22q13.3	2012-10-12	2011-08-11	2011-08-11	ENSG00000234300	ENSG00000234300		"""Long non-coding RNAs"""	13240	non-coding RNA	RNA, long non-coding			"""chromosome 22 open reading frame 10"", ""non-protein coding RNA 229"""	C22orf10, NCRNA00229			Standard	NR_044991		Approved	dJ474I12.C22.2	uc021wrf.1		OTTHUMG00000149974		22.37:g.45015093_45015094delGT								NR_044991.1						0	390	-									RNA	DEL	ENST00000443783.1	37																																																																																						0.515	LINC00229-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000314900.1			3	4						3	4	---	---	---	---
MYT1L	23040	broad.mit.edu	37	2	1947094	1947094	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr2:1947094delA	ENST00000399161.2	-	9	912	c.165delT	c.(163-165)tgtfs	p.C55fs	MYT1L_ENST00000428368.2_Frame_Shift_Del_p.C55fs	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	55					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCGCCAAGGGACAACCATATA	0.418																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(163-165)tgfs		myelin transcription factor 1-like							38.0	32.0	34.0					2																	1947094		1855	4102	5957	SO:0001589	frameshift_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1947094delA	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.165delT	2.37:g.1947094delA	ENSP00000382114:p.Cys55fs					MYT1L_ENST00000428368.2_Frame_Shift_Del_p.C55fs	p.C55fs	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	9	912	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	55					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Frame_Shift_Del	DEL	ENST00000399161.2	37	c.165delT																																																																																					0.418	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		2	4						2	4	---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr11:123900396_123900397insC	ENST00000431524.1	+	1	100_101	c.67_68insC	c.(67-69)gccfs	p.A23fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A23T(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGCGCTGGACGCCCCCCTCTTT	0.589																																						ENST00000431524.1																			1	Substitution - Missense(1)	p.A23T(1)	endometrium(1)	breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(67-69)cccfs		olfactory receptor, family 10, subfamily G, member 8																																				SO:0001589	frameshift_variant	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900396_123900397insC	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.73dupC	11.37:g.123900402_123900402dupC	ENSP00000389072:p.Ala23fs						p.P23fs	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	100_101	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	23					B2RNJ3|Q6IEV2	Frame_Shift_Ins	INS	ENST00000431524.1	37	c.67_68insC	CCDS31704.1																																																																																				0.589	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		7	504						7	504	---	---	---	---
ROBO3	64221	broad.mit.edu	37	11	124750448	124750453	+	In_Frame_Del	DEL	CGGAGT	CGGAGT	-	rs55725290|rs56085444|rs71859853	byFrequency	TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr11:124750448_124750453delCGGAGT	ENST00000397801.1	+	27	4285_4290	c.4093_4098delCGGAGT	c.(4093-4098)cggagtdel	p.RS1367del	ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1367					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TGgccggagccggagtcggagtcaga	0.66														2107	0.420727	0.6664	0.2392	5008	,	,		17575	0.378		0.2883	False		,,,				2504	0.3978					ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(4093-4098)del		roundabout, axon guidance receptor, homolog 3 (Drosophila)				2069,1609		709,651,479						2.4	1.0		dbSNP_130	17	1833,5925		332,1169,2378	no	coding	ROBO3	NM_022370.3		1041,1820,2857	A1A1,A1R,RR		23.6272,43.7466,34.1203				3902,7534				SO:0001651	inframe_deletion	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124750448_124750453delCGGAGT	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.4093_4098delCGGAGT	11.37:g.124750454_124750459delCGGAGT	ENSP00000380903:p.Arg1367_Ser1368del					ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del	p.RS1367del	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	27	4285_4290	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	1367						In_Frame_Del	DEL	ENST00000397801.1	37	c.4093_4098delCGGAGT	CCDS44755.1																																																																																				0.660	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		9	4						9	4	---	---	---	---
CLEC3A	10143	broad.mit.edu	37	16	78090272	78090272	+	RNA	DEL	G	G	-			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr16:78090272delG	ENST00000563114.1	-	0	41																											CAGGCAGGGTGGCCAGCTTGC	0.527																																						ENST00000563114.1																			0																																																			10143							g.chr16:78090272delG																													16.37:g.78090272delG														0	41	-									RNA	DEL	ENST00000563114.1	37																																																																																						0.527	RP11-281J9.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000434014.1			2	4						2	4	---	---	---	---
CNTROB	116840	broad.mit.edu	37	17	7851879	7851880	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr17:7851879_7851880insG	ENST00000563694.1	+	17	3380_3381	c.2455_2456insG	c.(2455-2457)tggfs	p.W819fs	CNTROB_ENST00000380262.3_Frame_Shift_Ins_p.W819fs|CNTROB_ENST00000565740.1_Frame_Shift_Ins_p.W819fs|CNTROB_ENST00000380255.3_3'UTR	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	819	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)				GGCTCGGGGCTGGGGGGCTCTG	0.579																																						ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(2455-2457)gggfs		centrobin, centrosomal BRCA2 interacting protein																																				SO:0001589	frameshift_variant	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7851879_7851880insG	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.2461dupG	17.37:g.7851885_7851885dupG	ENSP00000456335:p.Trp819fs					CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000563694.1_Frame_Shift_Ins_p.G819fs|CNTROB_ENST00000565740.1_Frame_Shift_Ins_p.G819fs	p.G819fs	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			17	3380_3381	+		Prostate(122;0.173)	819			Required for centrosome localization.		A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Frame_Shift_Ins	INS	ENST00000563694.1	37	c.2455_2456insG	CCDS11126.1																																																																																				0.579	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		8	253						8	253	---	---	---	---
AF038458.3	0	broad.mit.edu	37	19	36448398	36448398	+	lincRNA	DEL	T	T	-	rs35742682|rs397768211	byFrequency	TCGA-AK-3443-01A-01W-0886-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b7c42f-06e2-4ed9-83fa-954ef9993bf2	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr19:36448398delT	ENST00000592518.1	+	0	244																											ACCATAACCCttttttttttt	0.498													|||unknown(HR)	2421	0.483427	0.5061	0.5591	5008	,	,		20171	0.5506		0.4245	False		,,,				2504	0.3906					ENST00000592518.1																			0																																																			0							g.chr19:36448398delT																													19.37:g.36448398delT														0	244	+									RNA	DEL	ENST00000592518.1	37																																																																																						0.498	AF038458.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000457405.1			2	4						2	4	---	---	---	---
PADI6	353238	broad.mit.edu	37	1	17699379	17699380	+	RNA	INS	-	-	AC	rs10690473|rs71672613		TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr1:17699379_17699380insAC	ENST00000434762.2	+	0	166							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TCGGAGAGCAAACACAGGGGTC	0.569																																						ENST00000434762.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29								peptidyl arginine deiminase, type VI	L-Citrulline(DB00155)																																					353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17699379_17699380insAC	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17699382_17699383dupAC										Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	0	166	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)						Q330K5|Q70SX3	RNA	INS	ENST00000434762.2	37																																																																																						0.569	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		4	3						4	3	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195400639	195400641	+	lincRNA	DEL	GTG	GTG	-	rs145880653|rs147886708		TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr3:195400639_195400641delGTG	ENST00000445430.1	+	0	1284									long intergenic non-protein coding RNA 969																		AGGTGGGCTTGTGGAGGAATGGG	0.552																																						ENST00000445430.1																			0																																																			440993							g.chr3:195400639_195400641delGTG	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400639_195400641delGTG														0	1284	+									RNA	DEL	ENST00000445430.1	37																																																																																						0.552	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	9						4	9	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32521539	32521540	+	RNA	INS	-	-	GAAA			TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr6:32521539_32521540insGAAA	ENST00000411500.1	-	0	851					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		GGTCATTTGGGGAAAGACTTTA	0.431																																						ENST00000411500.1																			0																																																			3128							g.chr6:32521539_32521540insGAAA	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32521540_32521543dupGAAA								NR_001298.1						0	851	-									RNA	INS	ENST00000411500.1	37																																																																																						0.431	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		4	2						4	2	---	---	---	---
KIAA0408	9729	broad.mit.edu	37	6	127768325	127768329	+	Frame_Shift_Del	DEL	TTCTG	TTCTG	-			TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr6:127768325_127768329delTTCTG	ENST00000483725.3	-	5	1471_1475	c.1135_1139delCAGAA	c.(1135-1140)cagaaafs	p.QK379fs	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	379										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		AGAGCAGGTTTTCTGAAACCACGAA	0.434																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(1135-1140)afs		KIAA0408																																				SO:0001589	frameshift_variant	9729						protein binding	g.chr6:127768325_127768329delTTCTG	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1135_1139delCAGAA	6.37:g.127768325_127768329delTTCTG	ENSP00000435150:p.Gln379fs					SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	p.QK379fs	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	5	1471_1475	-			379					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Frame_Shift_Del	DEL	ENST00000483725.3	37	c.1135_1139delCAGAA	CCDS34531.1																																																																																				0.434	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		9	273						9	273	---	---	---	---
TRGC2	6967	broad.mit.edu	37	7	38284914	38284917	+	RNA	DEL	CTGA	CTGA	-	rs149178316|rs563966650|rs147429736	byFrequency	TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr7:38284914_38284917delCTGA	ENST00000436911.2	-	0	330							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										gtgtgtgtgtctgagtgtgtctgt	0.392														166	0.033147	0.0083	0.0231	5008	,	,		17035	0.0784		0.0358	False		,,,				2504	0.0245					ENST00000436911.2																			0																																																			6967							g.chr7:38284914_38284917delCTGA	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38284914_38284917delCTGA														0	330	-									RNA	DEL	ENST00000436911.2	37																																																																																						0.392	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	NG_001336		16	72						16	72	---	---	---	---
PMS2P4	5382	broad.mit.edu	37	7	66767611	66767611	+	RNA	DEL	T	T	-	rs12531701	byFrequency	TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr7:66767611delT	ENST00000414507.1	-	0	0				STAG3L4_ENST00000416602.2_RNA					postmeiotic segregation increased 2 pseudogene 4																		ACCGGACTGCTTTTTTTTTTT	0.542																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7																																														64940							g.chr7:66767611delT	D38438		7q11.22	2010-10-26	2010-10-26	2010-10-26	ENSG00000067601	ENSG00000067601			9129	pseudogene	pseudogene	"""PMS2 pseudogene"""		"""postmeiotic segregation increased 2-like 4"", ""postmeiotic segregation increased 2-like 4 pseudogene"""	PMS2L4		8586419	Standard	NR_046297		Approved	PMS6	uc003tvo.3		OTTHUMG00000156923		7.37:g.66767611delT								NR_040586.1		Q8TBR4	STG34_HUMAN			0	4	+		Lung NSC(55;0.0839)|all_lung(88;0.181)							RNA	DEL	ENST00000414507.1	37																																																																																						0.542	PMS2P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346632.1	NR_022007		3	5						3	5	---	---	---	---
TNKS	8658	broad.mit.edu	37	8	9413576	9413577	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr8:9413576_9413577insC	ENST00000310430.6	+	1	153_154	c.127_128insC	c.(127-129)accfs	p.T43fs	TNKS_ENST00000522110.1_Frame_Shift_Ins_p.T43fs|TNKS_ENST00000520408.1_Frame_Shift_Ins_p.T43fs|RP11-375N15.2_ENST00000607598.1_RNA	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	43					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		GGCCCCGGGGACCACCCCAGCC	0.748																																						ENST00000310430.6																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(127-129)cacfs		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase																																				SO:0001589	frameshift_variant	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9413576_9413577insC	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.129dupC	8.37:g.9413578_9413578dupC	ENSP00000311579:p.Thr43fs					RP11-375N15.2_ENST00000607598.1_RNA|TNKS_ENST00000520408.1_Frame_Shift_Ins_p.H43fs|TNKS_ENST00000522110.1_Frame_Shift_Ins_p.H43fs	p.H43fs	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	1	153_154	+			43					O95272|Q4G0F2	Frame_Shift_Ins	INS	ENST00000310430.6	37	c.127_128insC	CCDS5974.1																																																																																				0.748	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		7	45						7	45	---	---	---	---
RGS3	5998	broad.mit.edu	37	9	116356323	116356323	+	Intron	DEL	T	T	-			TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr9:116356323delT	ENST00000374140.2	+	23	3289				RGS3_ENST00000462143.1_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000462403.1_Frame_Shift_Del_p.F44fs|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000350696.5_Intron	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3						inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CCAGAAGGAATTTTTTTTTCC	0.622																																						ENST00000462403.1																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(124-126)ttfs		regulator of G-protein signaling 3							100.0	115.0	110.0					9																	116356323		2203	4300	6503	SO:0001627	intron_variant	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116356323delT	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3081-387T>-	9.37:g.116356323delT						RGS3_ENST00000394646.3_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000374134.3_Intron	p.F44fs	NM_144489.2	NP_652760.2	P49796	RGS3_HUMAN			1	558	+			207					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Frame_Shift_Del	DEL	ENST00000374140.2	37	c.124delT	CCDS43869.1																																																																																				0.622	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		9	548						9	548	---	---	---	---
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754|rs542581403|rs199786165	byFrequency	TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cctcctaca>cca	p.PT470del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	470	Poly-Pro.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.T471delT(2)		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)		cctcctcctcctcctACAGCGGGAGG	0.573																																						ENST00000256186.2																			2	Deletion - In frame(2)	p.T471delT(2)	upper_aerodigestive_tract(1)|skin(1)	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.(1405-1413)cca>c		MICAL C-terminal like				494,2594		71,352,1121						-0.7	0.0		dbSNP_107	5	1955,4965		272,1411,1777	no	coding	MICALCL	NM_032867.2		343,1763,2898	A1A1,A1R,RR		28.2514,15.9974,24.4704				2449,7559				SO:0001651	inframe_deletion	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12316384_12316389delCTCCTA	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_1411delCTCCTA	11.37:g.12316384_12316389delCTCCTA	ENSP00000256186:p.Pro470_Thr471del						p.PPT469del	NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	3	1697_1702	+			469			Poly-Pro.		Q7RTP7|Q96JU6	In_Frame_Del	DEL	ENST00000256186.2	37	c.1406_1411delCTCCTA	CCDS41620.1																																																																																				0.573	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		8	23						8	23	---	---	---	---
ROBO3	64221	broad.mit.edu	37	11	124750448	124750453	+	In_Frame_Del	DEL	CGGAGT	CGGAGT	-	rs55725290|rs56085444|rs71859853	byFrequency	TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr11:124750448_124750453delCGGAGT	ENST00000397801.1	+	27	4285_4290	c.4093_4098delCGGAGT	c.(4093-4098)cggagtdel	p.RS1367del	ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1367					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TGgccggagccggagtcggagtcaga	0.66														2107	0.420727	0.6664	0.2392	5008	,	,		17575	0.378		0.2883	False		,,,				2504	0.3978					ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(4093-4098)del		roundabout, axon guidance receptor, homolog 3 (Drosophila)				2069,1609		709,651,479						2.4	1.0		dbSNP_130	17	1833,5925		332,1169,2378	no	coding	ROBO3	NM_022370.3		1041,1820,2857	A1A1,A1R,RR		23.6272,43.7466,34.1203				3902,7534				SO:0001651	inframe_deletion	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124750448_124750453delCGGAGT	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.4093_4098delCGGAGT	11.37:g.124750454_124750459delCGGAGT	ENSP00000380903:p.Arg1367_Ser1368del					ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del|ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000525482.1_3'UTR	p.RS1367del	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	27	4285_4290	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	1367						In_Frame_Del	DEL	ENST00000397801.1	37	c.4093_4098delCGGAGT	CCDS44755.1																																																																																				0.660	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		6	6						6	6	---	---	---	---
C12orf43	64897	broad.mit.edu	37	12	121442108	121442109	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr12:121442108_121442109insG	ENST00000288757.3	-	6	658_659	c.636_637insC	c.(634-639)cccaccfs	p.T213fs	C12orf43_ENST00000366211.2_Frame_Shift_Ins_p.T172fs|C12orf43_ENST00000537817.1_Frame_Shift_Ins_p.T214fs|C12orf43_ENST00000536407.2_Intron|C12orf43_ENST00000539736.1_Frame_Shift_Ins_p.T203fs|C12orf43_ENST00000445832.3_Frame_Shift_Ins_p.T183fs	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	213	Lys-rich.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCCATGCTGGTGGGGGTGGTGG	0.55																																						ENST00000445832.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14						c.(544-549)ccccagfs		chromosome 12 open reading frame 43																																				SO:0001589	frameshift_variant	64897							g.chr12:121442108_121442109insG	AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000288757.3:c.637dupC	12.37:g.121442113_121442113dupG	ENSP00000288757:p.Thr213fs					C12orf43_ENST00000536407.2_Intron|C12orf43_ENST00000539736.1_Frame_Shift_Ins_p.Q203fs|C12orf43_ENST00000537817.1_Frame_Shift_Ins_p.Q214fs|C12orf43_ENST00000288757.3_Frame_Shift_Ins_p.Q213fs|C12orf43_ENST00000366211.2_Frame_Shift_Ins_p.Q172fs	p.Q183fs			Q96C57	CL043_HUMAN			6	648_649	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		213					Q53HF0|Q9H9Z7	Frame_Shift_Ins	INS	ENST00000288757.3	37	c.546_547insC	CCDS9210.1																																																																																				0.550	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022895		8	313						8	313	---	---	---	---
SLC24A1	9187	broad.mit.edu	37	15	65918177	65918179	+	In_Frame_Del	DEL	CTG	CTG	-	rs370680044		TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr15:65918177_65918179delCTG	ENST00000261892.6	+	2	2046_2048	c.1759_1761delCTG	c.(1759-1761)ctgdel	p.L591del	SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	591					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GTGGGAGAGCCTGCTGCTGCTGC	0.547																																						ENST00000261892.6																			0				breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1759-1761)del		solute carrier family 24 (sodium/potassium/calcium exchanger), member 1				99,3943		8,83,1930						4.1	1.0			151	234,7914		7,220,3847	no	coding	SLC24A1	NM_004727.2		15,303,5777	A1A1,A1R,RR		2.8719,2.4493,2.7317				333,11857				SO:0001651	inframe_deletion	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65918177_65918179delCTG	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.1759_1761delCTG	15.37:g.65918186_65918188delCTG	ENSP00000261892:p.Leu591del					SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del	p.L591del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN			2	2046_2048	+			591					O43485|O75184|Q17RM9	In_Frame_Del	DEL	ENST00000261892.6	37	c.1759_1761delCTG	CCDS45284.1																																																																																				0.547	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		8	212						8	212	---	---	---	---
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs398100042|rs2981599		TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr16:3119304_3119305insG	ENST00000534507.1	+	6	864_865	c.653_654insG	c.(652-657)gacaagfs	p.DK218fs	IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000525643.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574																																						ENST00000525643.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(514-516)gaafs		interleukin 32																																				SO:0001589	frameshift_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119304_3119305insG	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	Exception_encountered	16.37:g.3119304_3119305insG	ENSP00000431775:p.Asp218fs					IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs	p.E172fs			P24001	IL32_HUMAN			7	847_848	+			218					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Frame_Shift_Ins	INS	ENST00000534507.1	37	c.515_516insG																																																																																					0.574	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		43	396						43	396	---	---	---	---
NPIPB3	23117	broad.mit.edu	37	16	21415876	21415894	+	Frame_Shift_Del	DEL	GCGGCCCCCGCAGACGCTC	GCGGCCCCCGCAGACGCTC	-			TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr16:21415876_21415894delGCGGCCCCCGCAGACGCTC	ENST00000448012.2	-	9	1269_1287	c.1230_1248delGAGCGTCTGCGGGGGCCGC	c.(1228-1248)ccgagcgtctgcgggggccgcfs	p.PSVCGGR410fs	NPIPB3_ENST00000542817.1_Intron|NPIPB3_ENST00000458643.2_Frame_Shift_Del_p.ERLRGPL272fs	NM_130464.2	NP_569731.2	Q92617	NPIB3_HUMAN	nuclear pore complex interacting protein family, member B3	570	Pro-rich.					integral component of membrane (GO:0016021)											GAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTC	0.562																																						ENST00000458643.2																			0											c.(814-834)ttfs		nuclear pore complex interacting protein family, member B3																																				SO:0001589	frameshift_variant	23117							g.chr16:21415876_21415894delGCGGCCCCCGCAGACGCTC			16p12.2	2013-06-11	2013-06-11	2013-06-11	ENSG00000169246	ENSG00000169246			28989	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 3"""	NPIPL3		11948212	Standard	NM_130464		Approved	KIAA0220	uc021tei.1	Q92617	OTTHUMG00000163506	ENST00000448012.2:c.1230_1248delGAGCGTCTGCGGGGGCCGC	16.37:g.21415876_21415894delGCGGCCCCCGCAGACGCTC	ENSP00000390496:p.Pro410fs					NPIPB3_ENST00000448012.2_Frame_Shift_Del_p.PSVCGGR410fs|NPIPB3_ENST00000542817.1_Intron	p.ERLRGPL272fs							7	1365_1383	-								O43332|Q504Q6|Q59F29|Q6GMR1|Q6P7T2|Q6PIE2|Q6RH21	Frame_Shift_Del	DEL	ENST00000448012.2	37	c.814_832delGAGCGTCTGCGGGGGCCGC																																																																																					0.562	NPIPB3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_130464		2	4						2	4	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|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)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1360-1362)cafs		cell division cycle 27							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|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|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs					CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs	p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			11	1454	-			454					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1361delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			8	86						8	86	---	---	---	---
MICAL3	57553	broad.mit.edu	37	22	18301237	18301238	+	Frame_Shift_Ins	INS	-	-	C	rs199645457	byFrequency	TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr22:18301237_18301238insC	ENST00000441493.2	-	26	4541_4542	c.4189_4190insG	c.(4189-4191)gagfs	p.E1397fs	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1397	Pro-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGACAACGGCTCGCCTTCCGGC	0.644																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(4189-4191)gccfs		microtubule associated monooxygenase, calponin and LIM domain containing 3																																				SO:0001589	frameshift_variant	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18301237_18301238insC	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.4190dupG	22.37:g.18301238_18301238dupC	ENSP00000416015:p.Glu1397fs						p.A1397fs	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	26	4541_4542	-		all_epithelial(15;0.198)	1397			Pro-rich.		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Frame_Shift_Ins	INS	ENST00000441493.2	37	c.4189_4190insG	CCDS46659.1																																																																																				0.644	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			11	339						11	339	---	---	---	---
KANTR	102723508	broad.mit.edu	37	X	53142508	53142509	+	lincRNA	INS	-	-	A	rs372497626|rs79055434|rs113013303|rs79929016|rs368331815|rs145002653		TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chrX:53142508_53142509insA	ENST00000604849.1	+	0	96																											AACACACACACAAAAAAAAACC	0.356														2066	0.547285	0.2867	0.4784	3775	,	,		12410	0.4861		0.4493	False		,,,				2504	0.4223					ENST00000604849.1																			0																																																			102723508							g.chrX:53142508_53142509insA																													X.37:g.53142517_53142517dupA														0	96	+									RNA	INS	ENST00000604849.1	37																																																																																						0.356	RP11-258C19.5-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000468382.1			6	5						6	5	---	---	---	---
