#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
TPTE	7179	broad.mit.edu	37	21	10970018	10970018	+	Missense_Mutation	SNP	G	G	A	rs368032413		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr21:10970018G>A	ENST00000361285.4	-	6	439	c.110C>T	c.(109-111)gCg>gTg	p.A37V	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.A37V|TPTE_ENST00000342420.5_Missense_Mutation_p.A37V	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	37					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCTTTCTTTCGCAGGTGCCTC	0.413																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(109-111)gCg>gTg		transmembrane phosphatase with tensin homology		G	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	269.0	245.0	253.0		110,110,110	-1.5	0.0	21		253	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	TPTE	NM_199261.2,NM_199260.2,NM_199259.2	64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	37/552,37/514,37/534	10970018	1,13005	2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10970018G>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.110C>T	21.37:g.10970018G>A	ENSP00000355208:p.Ala37Val					TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.A37V|TPTE_ENST00000342420.5_Missense_Mutation_p.A37V	p.A37V	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	6	477	-			37					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.110C>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	G	3.609	-0.080010	0.07141	0.0	1.16E-4	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.95137	-3.43;-3.62;-3.51	0.725	-1.45	0.08828	.	0.367802	0.19873	U	0.104151	T	0.82135	0.4971	N	0.14661	0.345	0.09310	N	1	B;B;B	0.18610	0.009;0.001;0.029	B;B;B	0.10450	0.003;0.0;0.005	T	0.70342	-0.4898	10	0.02654	T	1	.	4.7832	0.13213	0.0:0.0:0.5421:0.4579	.	37;37;37	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	V	37	ENSP00000298232:A37V;ENSP00000355208:A37V;ENSP00000344441:A37V	ENSP00000298232:A37V	A	-	2	0	TPTE	9991889	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.742000	0.01835	-1.132000	0.02907	0.194000	0.17425	GCG		0.413	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			13	704	0	0	0	1	0	13	704				
SLC6A9	6536	broad.mit.edu	37	1	44468618	44468618	+	Silent	SNP	A	A	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:44468618A>G	ENST00000360584.2	-	6	1040	c.849T>C	c.(847-849)ttT>ttC	p.F283F	SLC6A9_ENST00000475075.2_Silent_p.F99F|SLC6A9_ENST00000372306.3_Silent_p.F210F|SLC6A9_ENST00000357730.2_Silent_p.F229F|SLC6A9_ENST00000372307.3_Silent_p.F145F|SLC6A9_ENST00000372310.3_Silent_p.F210F|SLC6A9_ENST00000537678.1_Silent_p.F145F	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	283					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GCACCTCCCCAAAGTTCCCAA	0.592																																						ENST00000372310.3																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(628-630)ttT>ttC		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)						125.0	133.0	130.0					1																	44468618		2203	4300	6503	SO:0001819	synonymous_variant	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44468618A>G	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.849T>C	1.37:g.44468618A>G						SLC6A9_ENST00000372306.3_Silent_p.F210F|SLC6A9_ENST00000357730.2_Silent_p.F229F|SLC6A9_ENST00000475075.2_Silent_p.F99F|SLC6A9_ENST00000537678.1_Silent_p.F145F|SLC6A9_ENST00000360584.2_Silent_p.F283F|SLC6A9_ENST00000372307.3_Silent_p.F145F	p.F210F	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN			6	795	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	283					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Silent	SNP	ENST00000360584.2	37	c.630T>C	CCDS41317.1																																																																																				0.592	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649		142	800	0	0	0	1	0	142	800				
AKAP12	9590	broad.mit.edu	37	6	151671678	151671678	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:151671678G>A	ENST00000253332.1	+	3	2341	c.2152G>A	c.(2152-2154)Gga>Aga	p.G718R	AKAP12_ENST00000359755.5_Missense_Mutation_p.G613R|AKAP12_ENST00000402676.2_Missense_Mutation_p.G718R|AKAP12_ENST00000354675.6_Missense_Mutation_p.G620R			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	718					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TGATGAGGCCGGAAAAGACAA	0.552																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(2152-2154)Gga>Aga		A kinase (PRKA) anchor protein 12							98.0	108.0	105.0					6																	151671678		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151671678G>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2152G>A	6.37:g.151671678G>A	ENSP00000253332:p.Gly718Arg					AKAP12_ENST00000359755.5_Missense_Mutation_p.G613R|AKAP12_ENST00000253332.1_Missense_Mutation_p.G718R|AKAP12_ENST00000354675.6_Missense_Mutation_p.G620R	p.G718R	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	2392	+		Ovarian(120;0.125)	718					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.2152G>A	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.573780	0.45902	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.08008	3.14;3.14;3.14;3.14	5.52	4.64	0.57946	.	0.395578	0.18765	N	0.131771	T	0.12135	0.0295	M	0.70595	2.14	0.23845	N	0.996688	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.68621	0.959;0.959;0.91	T	0.15549	-1.0433	10	0.16420	T	0.52	.	13.4509	0.61169	0.076:0.0:0.924:0.0	.	613;620;718	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	R	718;718;620;613	ENSP00000384537:G718R;ENSP00000253332:G718R;ENSP00000346702:G620R;ENSP00000352794:G613R	ENSP00000253332:G718R	G	+	1	0	AKAP12	151713371	0.995000	0.38212	0.005000	0.12908	0.034000	0.12701	5.006000	0.63978	1.305000	0.44909	0.655000	0.94253	GGA		0.552	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			5	739	0	0	0	1	0	5	739				
EPHB1	2047	broad.mit.edu	37	3	134873067	134873067	+	Silent	SNP	G	G	A	rs534067316		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:134873067G>A	ENST00000398015.3	+	6	1741	c.1371G>A	c.(1369-1371)ccG>ccA	p.P457P	EPHB1_ENST00000493838.1_Silent_p.P18P	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	457	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGCCACAGCCGGAGCAGCCCA	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		20256	0.001		0.0	False		,,,				2504	0.0					ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(1369-1371)ccG>ccA		EPH receptor B1							139.0	148.0	145.0					3																	134873067		2194	4298	6492	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134873067G>A	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1371G>A	3.37:g.134873067G>A						EPHB1_ENST00000493838.1_Silent_p.P18P	p.P457P	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			6	1741	+			457			Fibronectin type-III 2.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.1371G>A	CCDS46921.1																																																																																				0.557	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		6	918	0	0	0	1	0	6	918				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		6	413	0	0	0	1	0	6	413				
CBWD3	445571	broad.mit.edu	37	9	70871889	70871889	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:70871889C>T	ENST00000360171.6	+	5	1034	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	161							ATP binding (GO:0005524)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GTGATATTTACCTTGATGGTA	0.294																																						ENST00000360171.6																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(481-483)taC>taT		COBW domain containing 3																																				SO:0001819	synonymous_variant	445571						ATP binding	g.chr9:70871889C>T	BC069006	CCDS35038.1, CCDS35038.2	9q13	2014-05-06			ENSG00000196873	ENSG00000196873			18519	protein-coding gene	gene with protein product		611080				15233989, 12421752	Standard	XM_005277637		Approved	bA561O23.1	uc004aga.4	Q5JTY5	OTTHUMG00000184383	ENST00000360171.6:c.483C>T	9.37:g.70871889C>T						CBWD3_ENST00000377342.5_Intron	p.Y161Y	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN		all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)	5	1034	+			161					B4DNG9|Q6VB91	Silent	SNP	ENST00000360171.6	37	c.483C>T	CCDS35038.1																																																																																				0.294	CBWD3-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052526.1	NM_201453		6	643	0	0	0	1	0	6	643				
ARID1B	57492	broad.mit.edu	37	6	157528640	157528640	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:157528640G>A	ENST00000350026.5	+	19	6327	c.6326G>A	c.(6325-6327)cGc>cAc	p.R2109H	ARID1B_ENST00000367148.1_Missense_Mutation_p.R2162H|ARID1B_ENST00000275248.4_Missense_Mutation_p.R2104H|ARID1B_ENST00000346085.5_Missense_Mutation_p.R2122H	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2109					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTTGGGGATCGCAAAAACCCA	0.493																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(6364-6366)cGc>cAc		AT rich interactive domain 1B (SWI1-like)							186.0	193.0	191.0					6																	157528640		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157528640G>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.6326G>A	6.37:g.157528640G>A	ENSP00000055163:p.Arg2109His					ARID1B_ENST00000367148.1_Missense_Mutation_p.R2162H|ARID1B_ENST00000275248.4_Missense_Mutation_p.R2104H|ARID1B_ENST00000350026.5_Missense_Mutation_p.R2109H	p.R2122H	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	20	6366	+		Breast(66;0.000162)|Ovarian(120;0.0265)	2109					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.6365G>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083779	0.55861	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22	5.26	5.26	0.73747	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.56819	0.2011	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.61153	-0.7120	10	0.87932	D	0	.	19.2386	0.93873	0.0:0.0:1.0:0.0	.	2109;2122;2104	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	H	2122;2109;2162;2104;1631	ENSP00000344546:R2122H;ENSP00000055163:R2109H;ENSP00000356116:R2162H;ENSP00000275248:R2104H;ENSP00000412835:R1631H	ENSP00000275248:R2104H	R	+	2	0	ARID1B	157570332	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.803000	0.99136	2.607000	0.88179	0.655000	0.94253	CGC		0.493	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		7	1181	0	0	0	1	0	7	1181				
PRMT8	56341	broad.mit.edu	37	12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(91-93)Tcc>Ccc		protein arginine methyltransferase 8							41.0	51.0	47.0					12																	3649787		2199	4299	6498	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649787T>C	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.91T>C	12.37:g.3649787T>C	ENSP00000372067:p.Ser31Pro					PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P|PRMT8_ENST00000261252.4_3'UTR	p.S31P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	481	+			31					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.91T>C	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834665	0.50951	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.30182	1.65;1.54	5.52	-6.61	0.01818	.	0.606566	0.17318	N	0.178612	T	0.16171	0.0389	L	0.43152	1.355	0.28544	N	0.911948	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09997	-1.0649	10	0.29301	T	0.29	.	3.8844	0.09091	0.1085:0.1587:0.4822:0.2506	.	22;31	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	P	22;31	ENSP00000414507:S22P;ENSP00000372067:S31P	ENSP00000372067:S31P	S	+	1	0	PRMT8	3520048	0.000000	0.05858	0.001000	0.08648	0.946000	0.59487	-0.825000	0.04433	-0.996000	0.03455	0.460000	0.39030	TCC		0.652	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		21	492	0	0	0	1	0	21	492				
ADAMTS20	80070	broad.mit.edu	37	12	43860592	43860592	+	Silent	SNP	A	A	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:43860592A>G	ENST00000389420.3	-	9	1229	c.1230T>C	c.(1228-1230)ggT>ggC	p.G410G	ADAMTS20_ENST00000553158.1_Silent_p.G410G	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	410	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CATGTTGAACACCAAGTCTAA	0.294																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(1228-1230)ggT>ggC		ADAM metallopeptidase with thrombospondin type 1 motif, 20							80.0	83.0	82.0					12																	43860592		2202	4299	6501	SO:0001819	synonymous_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43860592A>G	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1230T>C	12.37:g.43860592A>G						ADAMTS20_ENST00000553158.1_Silent_p.G410G	p.G410G	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	9	1229	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	410			Peptidase M12B.		A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	c.1230T>C	CCDS31778.2																																																																																				0.294	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		22	201	0	0	0	1	0	22	201				
FRG1B	284802	broad.mit.edu	37	20	29628282	29628282	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr20:29628282G>A	ENST00000278882.3	+	6	664	c.284G>A	c.(283-285)gGg>gAg	p.G95E	FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E|FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATGAAGCAGGGGACATAGAA	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)gGg>gAg																																						SO:0001583	missense	0							g.chr20:29628282G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.284G>A	20.37:g.29628282G>A	ENSP00000278882:p.Gly95Glu					FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E|FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E	p.G95E							6	664	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.284G>A		.	.	.	.	.	.	.	.	.	.	g	18.02	3.529440	0.64860	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.56103	0.48	2.08	2.08	0.27032	Actin cross-linking (1);	0.051750	0.85682	D	0.000000	T	0.52092	0.1713	.	.	.	0.58432	D	0.999996	B;P	0.39940	0.309;0.696	P;P	0.46543	0.492;0.52	T	0.54221	-0.8326	9	0.45353	T	0.12	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	100;95	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	E	95;100;95	ENSP00000408863:G100E	ENSP00000278882:G95E	G	+	2	0	FRG1B	28241943	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GGG		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	632	0	0	0	1	0	5	632				
SDHAP1	255812	broad.mit.edu	37	3	195690163	195690163	+	RNA	SNP	A	A	G	rs201372496		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:195690163A>G	ENST00000427841.1	-	0	2325					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		GCTATTATACATAATTACAAA	0.458																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195690163A>G	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195690163A>G								NR_003264.2						0	2325	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.458	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			26	78	0	0	0	1	0	26	78				
GMPR	2766	broad.mit.edu	37	6	16279069	16279069	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:16279069C>T	ENST00000259727.4	+	6	716	c.602C>T	c.(601-603)gCc>gTc	p.A201V		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	201					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				CAGCTGAGTGCCGTCATTGAG	0.592																																						ENST00000259727.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20						c.(601-603)gCc>gTc		guanosine monophosphate reductase							91.0	81.0	85.0					6																	16279069		2203	4300	6503	SO:0001583	missense	2766				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding	g.chr6:16279069C>T		CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.602C>T	6.37:g.16279069C>T	ENSP00000259727:p.Ala201Val						p.A201V	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN			6	716	+	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	201					Q96HQ6	Missense_Mutation	SNP	ENST00000259727.4	37	c.602C>T	CCDS4537.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883826	0.72410	.	.	ENSG00000137198	ENST00000259727	D	0.90385	-2.66	4.85	4.85	0.62838	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.97554	0.9199	H	0.99815	4.805	0.80722	D	1	D	0.69078	0.997	D	0.64877	0.93	D	0.99605	1.0979	10	0.87932	D	0	-8.3541	16.7414	0.85460	0.0:1.0:0.0:0.0	.	201	P36959	GMPR1_HUMAN	V	201	ENSP00000259727:A201V	ENSP00000259727:A201V	A	+	2	0	GMPR	16387048	1.000000	0.71417	0.792000	0.32020	0.153000	0.21895	7.327000	0.79147	2.237000	0.73441	0.462000	0.41574	GCC		0.592	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2			5	419	0	0	0	1	0	5	419				
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C	rs202014361	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr10:47207813T>C	ENST00000452145.2	-	4	506	c.395A>G	c.(394-396)cAt>cGt	p.H132R	RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000355232.3_Splice_Site_p.H157R|AGAP10_ENST00000413193.2_Splice_Site_p.H228R			Q5T2P9	AGA10_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 10	132					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294																																						ENST00000355232.3																			20	Substitution - Missense(20)	p.H228R(20)	endometrium(10)|prostate(4)|kidney(4)|urinary_tract(2)	endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						c.e5+1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 10																																				SO:0001630	splice_region_variant	728127							g.chr10:47207813T>C	BC075841		10q11.22	2013-01-11	2008-09-22	2008-09-22	ENSG00000204172	ENSG00000204172		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23462	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 7"""	CTGLF7			Standard	XM_006709937		Approved	bA144G6.2		Q5T2P9	OTTHUMG00000018115	ENST00000452145.2:c.396+1A>G	10.37:g.47207813T>C						AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA	p.H157_splice							5	3482	-									Splice_Site	SNP	ENST00000452145.2	37	c.471_splice		.	.	.	.	.	.	.	.	.	.	t	0.012	-1.675265	0.00751	.	.	ENSG00000204172	ENST00000452145;ENST00000413193;ENST00000355232	D;T;D	0.87966	-2.32;2.68;-2.32	1.4	1.4	0.22301	.	0.264128	0.34555	N	0.003879	T	0.72486	0.3466	.	.	.	0.20764	N	0.999856	B	0.22003	0.063	B	0.19666	0.026	T	0.55471	-0.8136	9	0.16896	T	0.51	.	6.9024	0.24291	0.0:0.0:0.0:1.0	.	132	Q5T2P9	AGA10_HUMAN	R	132;228;157	ENSP00000392206:H132R;ENSP00000407436:H228R;ENSP00000347372:H157R	ENSP00000347372:H157R	H	-	2	0	AGAP10	46627819	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	3.704000	0.54815	0.898000	0.36418	0.163000	0.16589	CAT		0.294	AGAP10-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000047845.2	XM_001714786.2	Missense_Mutation	13	150	0	0	0	1	0	13	150				
CACNA1E	777	broad.mit.edu	37	1	181690939	181690939	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:181690939C>T	ENST00000367573.2	+	16	2002	c.2002C>T	c.(2002-2004)Cgc>Tgc	p.R668C	CACNA1E_ENST00000367567.4_Missense_Mutation_p.R275C|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R668C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R668C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R668C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R619C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R619C	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	668					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.R668C(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAATGGGATCCGCTCCCAGGG	0.507																																						ENST00000526775.1																			2	Substitution - Missense(2)	p.R668C(2)	endometrium(2)	NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(2002-2004)Cgc>Tgc		calcium channel, voltage-dependent, R type, alpha 1E subunit							206.0	209.0	208.0					1																	181690939		2041	4204	6245	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181690939C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2002C>T	1.37:g.181690939C>T	ENSP00000356545:p.Arg668Cys					CACNA1E_ENST00000360108.3_Missense_Mutation_p.R668C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R668C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R275C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R668C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R619C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R619C	p.R668C	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			16	2167	+			668					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.2002C>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535986	0.85812	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97430	-4.38;-4.38;-4.38;-4.38;-4.38;-4.38;-4.38	5.33	5.33	0.75918	.	0.048724	0.85682	N	0.000000	D	0.98413	0.9472	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.977	D	0.99482	1.0948	10	0.72032	D	0.01	.	18.6084	0.91275	0.0:1.0:0.0:0.0	.	668;668	Q15878-2;Q15878-3	.;.	C	668;668;619;619;275;668;668	ENSP00000356542:R668C;ENSP00000434814:R668C;ENSP00000350183:R619C;ENSP00000351101:R619C;ENSP00000356539:R275C;ENSP00000353222:R668C;ENSP00000356545:R668C	ENSP00000350183:R619C	R	+	1	0	CACNA1E	179957562	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.705000	0.61838	2.465000	0.83290	0.563000	0.77884	CGC		0.507	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		150	689	0	0	0	1	0	150	689				
IGHV1OR15-9	390531	broad.mit.edu	37	15	20169960	20169960	+	RNA	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr15:20169960G>A	ENST00000338912.5	-	0	311									immunoglobulin heavy variable 1/OR15-9 (non-functional)																		CAGATCTCAGGCTGCTTAGCT	0.527																																						ENST00000338912.5																			0																				217.0	211.0	213.0					15																	20169960		2112	4224	6336			0							g.chr15:20169960G>A	L25542		15q11.1	2013-10-18	2008-08-22		ENSG00000188403	ENSG00000188403		"""Immunoglobulins / IGH orphons"""	5569	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR15-9"", ""V-set and immunoglobulin domain containing 7"""	VSIG7		7959766	Standard	NG_032069		Approved	IGHV1/OR15-9, IGHV1OR159			OTTHUMG00000171652		15.37:g.20169960G>A														0	311	-									RNA	SNP	ENST00000338912.5	37																																																																																						0.527	IGHV1OR15-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000414646.4			10	1031	0	0	0	1	0	10	1031				
LCT	3938	broad.mit.edu	37	2	136575286	136575286	+	Silent	SNP	G	G	A	rs370939537		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:136575286G>A	ENST00000264162.2	-	6	1342	c.1332C>T	c.(1330-1332)tgC>tgT	p.C444C	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	444	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CCCGGAGGCCGCAAAGCAGGG	0.647																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(1330-1332)tgC>tgT		lactase		G		0,4406		0,0,2203	69.0	65.0	66.0		1332	-11.5	0.0	2		66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LCT	NM_002299.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		444/1928	136575286	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136575286G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1332C>T	2.37:g.136575286G>A							p.C444C	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	6	1342	-			444			4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.1332C>T	CCDS2178.1																																																																																				0.647	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		8	491	0	0	0	1	0	8	491				
TAS2R19	259294	broad.mit.edu	37	12	11174543	11174543	+	Missense_Mutation	SNP	G	G	A	rs202189737		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:11174543G>A	ENST00000390673.2	-	1	676	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	210					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R210W(1)		breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CTATGGAGCCGCATCTTCTTG	0.403																																						ENST00000390673.2																			1	Substitution - Missense(1)	p.R210W(1)	lung(1)	breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						c.(628-630)Cgg>Tgg		taste receptor, type 2, member 19							146.0	144.0	144.0					12																	11174543		2203	4300	6503	SO:0001583	missense	259294				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11174543G>A	AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19108	protein-coding gene	gene with protein product		613961	"""taste receptor, type 2, member 48"", ""taste receptor, type 2, member 23"""	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.628C>T	12.37:g.11174543G>A	ENSP00000375091:p.Arg210Trp					TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.R210W	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN			1	676	-			210					Q3MIJ4|Q645X8	Missense_Mutation	SNP	ENST00000390673.2	37	c.628C>T	CCDS8640.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.664227	0.29604	.	.	ENSG00000212124	ENST00000390673	T	0.00873	5.59	2.69	0.739	0.18324	.	2.120730	0.03861	U	0.273979	T	0.03390	0.0098	L	0.58101	1.795	0.09310	N	1	D	0.71674	0.998	D	0.65140	0.932	T	0.36065	-0.9763	10	0.87932	D	0	.	3.8416	0.08917	0.2604:0.1987:0.5409:0.0	.	210	P59542	T2R19_HUMAN	W	210	ENSP00000375091:R210W	ENSP00000375091:R210W	R	-	1	2	TAS2R19	11065810	0.012000	0.17670	0.002000	0.10522	0.028000	0.11728	1.761000	0.38440	-0.004000	0.14419	-1.111000	0.02071	CGG		0.403	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370080.1	NM_176888		6	750	0	0	0	1	0	6	750				
SYNE2	23224	broad.mit.edu	37	14	64685207	64685207	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr14:64685207C>T	ENST00000344113.4	+	108	19777	c.19565C>T	c.(19564-19566)gCc>gTc	p.A6522V	SYNE2_ENST00000441438.2_Missense_Mutation_p.A53V|SYNE2_ENST00000458046.2_Missense_Mutation_p.A179V|SYNE2_ENST00000554805.1_Missense_Mutation_p.A305V|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.A3179V|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.A6545V|SYNE2_ENST00000357395.3_Missense_Mutation_p.A2907V|SYNE2_ENST00000394768.2_Missense_Mutation_p.A2907V|SYNE2_ENST00000555022.1_Missense_Mutation_p.A400V	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6522					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGGGGACTGGCCGGTATCACA	0.527																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(8719-8721)gCc>gTc		spectrin repeat containing, nuclear envelope 2							60.0	63.0	62.0					14																	64685207		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64685207C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.19565C>T	14.37:g.64685207C>T	ENSP00000341781:p.Ala6522Val					SYNE2_ENST00000394768.2_Missense_Mutation_p.A2907V|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000458046.2_Missense_Mutation_p.A179V|SYNE2_ENST00000554805.1_Missense_Mutation_p.A305V|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.A6522V|SYNE2_ENST00000441438.2_Missense_Mutation_p.A53V|SYNE2_ENST00000555022.1_Missense_Mutation_p.A400V|SYNE2_ENST00000358025.3_Missense_Mutation_p.A6545V|SYNE2_ENST00000555002.1_Missense_Mutation_p.A3179V	p.A2907V			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	109	19864	+			6522					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.8720C>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028348	0.35797	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	T;T;T;T;T;T;T;T;T	0.47177	0.86;4.09;0.85;4.15;4.09;3.72;3.25;2.92;2.74	4.83	4.83	0.62350	.	0.300803	0.23782	N	0.044608	T	0.42743	0.1216	L	0.55481	1.735	0.80722	D	1	B;B;B;B;B;B;P	0.38048	0.03;0.03;0.107;0.107;0.009;0.192;0.616	B;B;B;B;B;B;B	0.34824	0.01;0.033;0.061;0.023;0.01;0.082;0.19	T	0.45833	-0.9234	10	0.51188	T	0.08	.	13.2847	0.60237	0.0:1.0:0.0:0.0	.	179;2907;53;179;910;6522;6545	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;Q8WXH0;Q8WXH0-2	.;.;.;.;.;SYNE2_HUMAN;.	V	6545;2907;6522;3179;2907;400;305;179;53	ENSP00000350719:A6545V;ENSP00000349969:A2907V;ENSP00000341781:A6522V;ENSP00000450831:A3179V;ENSP00000378249:A2907V;ENSP00000451009:A400V;ENSP00000450605:A305V;ENSP00000391937:A179V;ENSP00000396794:A53V	ENSP00000341781:A6522V	A	+	2	0	SYNE2	63754960	0.417000	0.25432	0.013000	0.15412	0.004000	0.04260	1.003000	0.29809	2.489000	0.83994	0.561000	0.74099	GCC		0.527	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		5	197	0	0	0	1	0	5	197				
CROCC	9696	broad.mit.edu	37	1	17272075	17272075	+	Missense_Mutation	SNP	G	G	A	rs2781608		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:17272075G>A	ENST00000375541.5	+	15	2179	c.2110G>A	c.(2110-2112)Gcc>Acc	p.A704T	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin									p.A704T(11)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGCCGAGAAGGCCGAGGTGGC	0.657																																						ENST00000375541.5																			11	Substitution - Missense(11)	p.A704T(11)	kidney(7)|endometrium(1)|prostate(1)|lung(1)|central_nervous_system(1)	breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(2110-2112)Gcc>Acc		ciliary rootlet coiled-coil, rootletin							20.0	18.0	19.0					1																	17272075		2199	4291	6490	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17272075G>A	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.2110G>A	1.37:g.17272075G>A	ENSP00000364691:p.Ala704Thr					CROCC_ENST00000467938.1_3'UTR	p.A704T	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	15	2179	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	704						Missense_Mutation	SNP	ENST00000375541.5	37	c.2110G>A	CCDS30616.1	202	0.0924908424908425	54	0.10975609756097561	27	0.07458563535911603	41	0.07167832167832168	80	0.10554089709762533	g	7.919	0.738064	0.15574	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.10668	2.85	5.01	4.1	0.47936	.	.	.	.	.	T	0.00300	0.0009	L	0.47716	1.5	0.30387	N	0.781339	D;P;P	0.57899	0.981;0.952;0.873	P;P;B	0.52554	0.702;0.579;0.439	T	0.02477	-1.1153	9	0.16420	T	0.52	.	13.1749	0.59621	0.0795:0.0:0.9205:0.0	rs2781608;rs3871256;rs3872330	567;7;704	A1L0S8;Q5TZA2-2;Q5TZA2	.;.;CROCC_HUMAN	T	704;585	ENSP00000364691:A704T	ENSP00000364691:A704T	A	+	1	0	CROCC	17144662	0.999000	0.42202	0.970000	0.41538	0.013000	0.08279	2.720000	0.47252	1.448000	0.47680	-0.215000	0.12644	GCC		0.657	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		4	110	0	0	0	1	0	4	110				
PALM2	114299	broad.mit.edu	37	9	112694261	112694261	+	Intron	SNP	G	G	A	rs369150990		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:112694261G>A	ENST00000374531.2	+	6	474				AKAP2_ENST00000555236.1_Missense_Mutation_p.R150Q|PALM2_ENST00000483909.1_Intron|PALM2_ENST00000314527.4_Missense_Mutation_p.R150Q|PALM2_ENST00000448454.2_Missense_Mutation_p.R152Q|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.R150Q|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.R150Q|AKAP2_ENST00000510514.5_Missense_Mutation_p.R150Q	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2						regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						CTCTGTTCACGAACAGCAGAA	0.537																																						ENST00000448454.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						c.(454-456)cGa>cAa		paralemmin 2		G	,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	136.0	131.0	133.0		,449,449,449	-5.9	0.7	9		133	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,missense,missense	PALM2,PALM2-AKAP2	NM_001037293.2,NM_147150.2,NM_053016.5,NM_007203.4	,43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,benign,benign,benign	,150/1091,150/412,150/1104	112694261	1,13005	2203	4300	6503	SO:0001627	intron_variant	114299							g.chr9:112694261G>A	AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.400+6899G>A	9.37:g.112694261G>A						PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.R150Q|PALM2_ENST00000374531.2_Intron|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.R150Q|PALM2_ENST00000314527.4_Missense_Mutation_p.R150Q|PALM2_ENST00000483909.1_Intron|AKAP2_ENST00000510514.5_Missense_Mutation_p.R150Q|AKAP2_ENST00000555236.1_Missense_Mutation_p.R150Q	p.R152Q							7	455	+								A9Z1X9|Q8N9D5|Q96DU1	Missense_Mutation	SNP	ENST00000374531.2	37	c.455G>A	CCDS35099.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347395	0.61183	0.0	1.16E-4	ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000157654;ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978	ENST00000448454;ENST00000314527;ENST00000497711;ENST00000374530;ENST00000413420;ENST00000302798;ENST00000555236;ENST00000510514	T;T;T;T;T;T;T;T	0.31510	2.32;2.32;1.49;2.29;2.32;2.29;2.29;2.29	6.17	-5.92	0.02261	.	1.309160	0.05762	N	0.605000	T	0.24890	0.0604	N	0.25647	0.755	0.26117	N	0.98061	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.08055	0.003;0.003;0.0	T	0.36986	-0.9725	10	0.87932	D	0	4.8271	18.4642	0.90749	0.1085:0.7357:0.1558:0.0	.	150;150;152	Q9Y2D5-6;Q9Y2D5-4;D3YTA4	.;.;.	Q	152;150;136;150;150;150;150;150	ENSP00000400206:R152Q;ENSP00000323805:R150Q;ENSP00000419747:R136Q;ENSP00000363654:R150Q;ENSP00000397839:R150Q;ENSP00000305861:R150Q;ENSP00000451476:R150Q;ENSP00000421522:R150Q	ENSP00000305861:R150Q	R	+	2	0	PALM2-AKAP2;PALM2;AKAP2	111734082	0.586000	0.26782	0.720000	0.30636	0.943000	0.58893	-0.368000	0.07543	-0.736000	0.04831	-0.844000	0.03045	CGA		0.537	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	NM_001037293		127	560	0	0	0	1	0	127	560				
MUC21	394263	broad.mit.edu	37	6	30954349	30954349	+	Missense_Mutation	SNP	A	A	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:30954349A>G	ENST00000376296.3	+	2	638	c.397A>G	c.(397-399)Agc>Ggc	p.S133G	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	133	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAGTGGGGCCAGCACAGCCAC	0.612																																						ENST00000376296.3																			0				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(397-399)Agc>Ggc		mucin 21, cell surface associated							165.0	154.0	158.0					6																	30954349		2203	4300	6503	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30954349A>G	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.397A>G	6.37:g.30954349A>G	ENSP00000365473:p.Ser133Gly					MUC21_ENST00000486149.2_5'UTR	p.S133G	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN			2	638	+			133			28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.397A>G	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.181861	0.38511	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.02369	4.32	3.56	0.787	0.18596	.	.	.	.	.	T	0.00666	0.0022	L	0.27053	0.805	0.09310	N	1	B	0.19073	0.033	B	0.22601	0.04	T	0.46789	-0.9166	8	.	.	.	-0.1118	4.2711	0.10787	0.7116:0.0:0.1109:0.1775	.	133	Q5SSG8	MUC21_HUMAN	G	133	ENSP00000365473:S133G	.	S	+	1	0	MUC21	31062328	0.000000	0.05858	0.004000	0.12327	0.164000	0.22412	0.014000	0.13333	0.527000	0.28560	0.397000	0.26171	AGC		0.612	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		7	1332	0	0	0	1	0	7	1332				
GTPBP8	29083	broad.mit.edu	37	3	112710121	112710121	+	Missense_Mutation	SNP	G	G	A	rs372770061		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:112710121G>A	ENST00000383678.2	+	1	357	c.275G>A	c.(274-276)cGc>cAc	p.R92H	GTPBP8_ENST00000467752.1_5'Flank|GTPBP8_ENST00000383677.3_Missense_Mutation_p.R92H|GTPBP8_ENST00000473129.1_5'Flank|RP11-484K9.4_ENST00000609673.1_RNA	NM_014170.2	NP_054889.2	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	92					barrier septum assembly (GO:0000917)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						GAACGGAACCGCATCGACTAC	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		14687	0.0		0.0	False		,,,				2504	0.001					ENST00000383677.3																			0				kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						c.(274-276)cGc>cAc		GTP-binding protein 8 (putative)		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	41.0	39.0	40.0		275,275	5.2	1.0	3		40	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GTPBP8	NM_014170.2,NM_138485.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	92/285,92/252	112710121	1,13005	2203	4300	6503	SO:0001583	missense	29083				barrier septum formation		GTP binding	g.chr3:112710121G>A	BC037163	CCDS33820.1, CCDS33821.1	3q13.2	2008-02-05			ENSG00000163607	ENSG00000163607			25007	protein-coding gene	gene with protein product							Standard	NM_014170		Approved	HSPC135	uc003dzn.3	Q8N3Z3	OTTHUMG00000159268	ENST00000383678.2:c.275G>A	3.37:g.112710121G>A	ENSP00000373176:p.Arg92His					GTPBP8_ENST00000383678.2_Missense_Mutation_p.R92H	p.R92H	NM_138485.1	NP_612494.1	Q8N3Z3	GTPB8_HUMAN			1	290	+			92					A6NE99|A6NN11|A8K0P6|Q5I0Y4	Missense_Mutation	SNP	ENST00000383678.2	37	c.275G>A	CCDS33820.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494060	0.64186	0.0	1.16E-4	ENSG00000163607	ENST00000383678;ENST00000383677;ENST00000305485	T;T	0.48836	2.35;0.8	6.08	5.19	0.71726	.	0.293519	0.38897	N	0.001533	T	0.61022	0.2314	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;0.993	D;P	0.67382	0.951;0.821	T	0.64093	-0.6488	10	0.56958	D	0.05	-1.0752	5.3975	0.16276	0.0749:0.1445:0.6305:0.1501	.	92;92	Q8N3Z3-2;Q8N3Z3	.;GTPB8_HUMAN	H	92	ENSP00000373176:R92H;ENSP00000373175:R92H	ENSP00000295864:R92H	R	+	2	0	GTPBP8	114192811	1.000000	0.71417	1.000000	0.80357	0.306000	0.27790	2.285000	0.43487	1.564000	0.49628	0.655000	0.94253	CGC		0.647	GTPBP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354260.2	NM_014170		5	384	0	0	0	1	0	5	384				
RAB10	10890	broad.mit.edu	37	2	26257554	26257554	+	Missense_Mutation	SNP	T	T	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:26257554T>C	ENST00000264710.4	+	1	576	c.77T>C	c.(76-78)cTt>cCt	p.L26P		NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN	RAB10, member RAS oncogene family	26					antigen processing and presentation (GO:0019882)|axonogenesis (GO:0007409)|basolateral protein localization (GO:0061467)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum tubular network organization (GO:0071786)|endosomal transport (GO:0016197)|establishment of neuroblast polarity (GO:0045200)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|establishment of protein localization to membrane (GO:0090150)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi to plasma membrane transport (GO:0006893)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|polarized epithelial cell differentiation (GO:0030859)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum tubular network (GO:0071782)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|insulin-responsive compartment (GO:0032593)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTGCGTCCTTTTTCGTTTT	0.537																																						ENST00000264710.4																			0				lung(2)|ovary(1)	3						c.(76-78)cTt>cCt		RAB10, member RAS oncogene family							148.0	134.0	139.0					2																	26257554		2203	4300	6503	SO:0001583	missense	10890				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding	g.chr2:26257554T>C	AF106681	CCDS1720.1	2p23.3	2008-05-21			ENSG00000084733	ENSG00000084733		"""RAB, member RAS oncogene"""	9759	protein-coding gene	gene with protein product	"""ras-related GTP-binding protein"""	612672				7688123	Standard	NM_016131		Approved		uc002rgv.3	P61026	OTTHUMG00000094796	ENST00000264710.4:c.77T>C	2.37:g.26257554T>C	ENSP00000264710:p.Leu26Pro						p.L26P	NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN			1	576	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		26					D6W538|O88386|Q6IA52|Q9D7X6|Q9H0T3	Missense_Mutation	SNP	ENST00000264710.4	37	c.77T>C	CCDS1720.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.284629	0.80803	.	.	ENSG00000084733	ENST00000264710	T	0.80909	-1.43	5.21	5.21	0.72293	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.93245	0.7848	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95208	0.8323	10	0.87932	D	0	.	13.0672	0.59041	0.0:0.0:0.0:1.0	.	26	P61026	RAB10_HUMAN	P	26	ENSP00000264710:L26P	ENSP00000264710:L26P	L	+	2	0	RAB10	26111058	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.482000	0.81143	1.971000	0.57363	0.533000	0.62120	CTT		0.537	RAB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211610.1	NM_016131		5	616	0	0	0	1	0	5	616				
CKAP2L	150468	broad.mit.edu	37	2	113514269	113514269	+	Missense_Mutation	SNP	A	A	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:113514269A>C	ENST00000302450.6	-	4	757	c.679T>G	c.(679-681)Ttg>Gtg	p.L227V	CKAP2L_ENST00000541405.1_Missense_Mutation_p.L62V|CKAP2L_ENST00000481732.1_5'Flank	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	227						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						CTTTTGCCCAAGGCTTGTTTA	0.373																																						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.(184-186)Ttg>Gtg		cytoskeleton associated protein 2-like							110.0	114.0	113.0					2																	113514269		2203	4300	6503	SO:0001583	missense	150468					centrosome		g.chr2:113514269A>C	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.679T>G	2.37:g.113514269A>C	ENSP00000305204:p.Leu227Val					CKAP2L_ENST00000302450.6_Missense_Mutation_p.L227V	p.L62V			Q8IYA6	CKP2L_HUMAN			4	707	-			227		N -> S (in dbSNP:rs17042344).			A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	37	c.184T>G	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	A	10.37	1.330842	0.24167	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.12879	2.64;3.29	5.0	0.984	0.19773	.	0.914293	0.09252	N	0.827794	T	0.14874	0.0359	M	0.64997	1.995	0.25552	N	0.987079	B	0.23540	0.087	B	0.26202	0.067	T	0.32929	-0.9888	10	0.42905	T	0.14	0.472	5.4096	0.16341	0.5372:0.1583:0.0:0.3044	.	227	Q8IYA6	CKP2L_HUMAN	V	62;227	ENSP00000438763:L62V;ENSP00000305204:L227V	ENSP00000305204:L227V	L	-	1	2	CKAP2L	113230740	0.000000	0.05858	0.169000	0.22859	0.861000	0.49209	-0.261000	0.08694	0.062000	0.16340	0.477000	0.44152	TTG		0.373	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		25	414	0	0	0	1	0	25	414				
ZSCAN5A	79149	broad.mit.edu	37	19	56733503	56733503	+	Missense_Mutation	SNP	T	T	C	rs575289949	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:56733503T>C	ENST00000587340.1	-	7	1627	c.932A>G	c.(931-933)gAg>gGg	p.E311G	ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.E194G|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.E165G|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.E310G|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.E311G			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	311					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCCTTGAGGCTCTTCTTGGGA	0.547													T|||	2	0.000399361	0.0015	0.0	5008	,	,		15641	0.0		0.0	False		,,,				2504	0.0					ENST00000587340.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(931-933)gAg>gGg		zinc finger and SCAN domain containing 5A							80.0	84.0	83.0					19																	56733503		2203	4297	6500	SO:0001583	missense	79149				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56733503T>C	AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"""-"", ""Zinc fingers, C2H2-type"""	23710	protein-coding gene	gene with protein product			"""zinc finger protein 495"", ""zinc finger and SCAN domain containing 5"""	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.932A>G	19.37:g.56733503T>C	ENSP00000467631:p.Glu311Gly					ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.E194G|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.E165G|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.E310G|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.E311G	p.E311G			Q9BUG6	ZSA5A_HUMAN			7	1627	-			311					B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	ENST00000587340.1	37	c.932A>G	CCDS12941.1	.	.	.	.	.	.	.	.	.	.	T	0.370	-0.934381	0.02340	.	.	ENSG00000131848	ENST00000391713;ENST00000254165	T;T	0.06687	3.27;3.28	1.69	-3.36	0.04913	.	.	.	.	.	T	0.02571	0.0078	N	0.04162	-0.26	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.44019	-0.9355	9	0.21014	T	0.42	.	0.2751	0.00237	0.2176:0.2585:0.1643:0.3596	.	194;311	B4DX98;Q9BUG6	.;ZSA5A_HUMAN	G	311;194	ENSP00000375593:E311G;ENSP00000254165:E194G	ENSP00000254165:E194G	E	-	2	0	ZSCAN5A	61425315	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.487000	0.02310	-0.908000	0.03857	-0.366000	0.07423	GAG		0.547	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		9	592	0	0	0	1	0	9	592				
HSD17B7	51478	broad.mit.edu	37	1	162769603	162769603	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:162769603G>A	ENST00000254521.3	+	5	573	c.518G>A	c.(517-519)aGt>aAt	p.S173N	HSD17B7_ENST00000367917.3_Missense_Mutation_p.S173N|HSD17B7_ENST00000485405.1_3'UTR	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	173					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)	p.S173N(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					TCATCTCGCAGTGCAAGGAAA	0.458																																						ENST00000367917.3																			4	Substitution - Missense(4)	p.S173N(4)	kidney(2)|endometrium(2)	endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(517-519)aGt>aAt		hydroxysteroid (17-beta) dehydrogenase 7	NADH(DB00157)						76.0	70.0	72.0					1																	162769603		2203	4300	6503	SO:0001583	missense	51478				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	g.chr1:162769603G>A	AF098786	CCDS1242.1	1q23	2011-09-14			ENSG00000132196	ENSG00000132196	1.1.1.270	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5215	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 37C, member 1"""	606756				10544267, 10419022, 19027726	Standard	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	P56937	OTTHUMG00000034420	ENST00000254521.3:c.518G>A	1.37:g.162769603G>A	ENSP00000254521:p.Ser173Asn					HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N|HSD17B7_ENST00000485405.1_3'UTR	p.S173N			P56937	DHB7_HUMAN			5	586	+	all_hematologic(112;0.115)		173					Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	ENST00000254521.3	37	c.518G>A	CCDS1242.1	.	.	.	.	.	.	.	.	.	.	A	0.896	-0.723912	0.03158	.	.	ENSG00000132196	ENST00000367917;ENST00000254521;ENST00000413934	T;T;T	0.76578	2.88;-1.03;2.88	4.44	3.31	0.37934	NAD(P)-binding domain (1);	0.000000	0.85682	N	0.000000	T	0.27205	0.0667	N	0.04705	-0.18	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.06917	-1.0800	9	0.05833	T	0.94	-30.7352	7.9369	0.29935	0.8252:0.0:0.1748:0.0	.	173	P56937	DHB7_HUMAN	N	173;173;26	ENSP00000356894:S173N;ENSP00000254521:S173N;ENSP00000412146:S26N	ENSP00000254521:S173N	S	+	2	0	HSD17B7	161036227	1.000000	0.71417	0.991000	0.47740	0.478000	0.33099	4.183000	0.58317	0.241000	0.21283	-1.007000	0.02485	AGT		0.458	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1	NM_016371		6	305	0	0	0	1	0	6	305				
ST5	6764	broad.mit.edu	37	11	8751522	8751522	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:8751522G>A	ENST00000534127.1	-	6	1700	c.1315C>T	c.(1315-1317)Cgt>Tgt	p.R439C	ST5_ENST00000530438.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.R439C|ST5_ENST00000357665.1_Missense_Mutation_p.R439C|ST5_ENST00000526757.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	439	Interaction with ABL1.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CGGTGACCACGCATGTCCTTC	0.572																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1315-1317)Cgt>Tgt		suppression of tumorigenicity 5							284.0	277.0	279.0					11																	8751522		2201	4296	6497	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8751522G>A	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1315C>T	11.37:g.8751522G>A	ENSP00000433528:p.Arg439Cys					ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.R439C|ST5_ENST00000357665.1_Missense_Mutation_p.R439C	p.R439C	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	6	1700	-			439			Interaction with ABL1.		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.1315C>T	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290665	0.80914	.	.	ENSG00000166444	ENST00000534127;ENST00000313726;ENST00000357665	T;T;T	0.06687	3.27;3.27;3.27	6.11	6.11	0.99139	.	0.102941	0.39407	N	0.001363	T	0.18718	0.0449	L	0.34521	1.04	0.58432	D	0.999997	D	0.76494	0.999	P	0.59357	0.856	T	0.00039	-1.2241	10	0.72032	D	0.01	-7.866	18.9147	0.92501	0.0:0.0:1.0:0.0	.	439	P78524	ST5_HUMAN	C	439	ENSP00000433528:R439C;ENSP00000319678:R439C;ENSP00000350294:R439C	ENSP00000319678:R439C	R	-	1	0	ST5	8708098	1.000000	0.71417	0.970000	0.41538	0.992000	0.81027	4.038000	0.57318	2.906000	0.99361	0.655000	0.94253	CGT		0.572	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		10	1939	0	0	0	1	0	10	1939				
C16orf93	90835	broad.mit.edu	37	16	30768893	30768893	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:30768893C>T	ENST00000543610.1	-	9	1861	c.900G>A	c.(898-900)cgG>cgA	p.R300R	PHKG2_ENST00000424889.3_Intron|C16orf93_ENST00000541260.1_Silent_p.R365R|PHKG2_ENST00000563588.1_3'UTR	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	300										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						TGGCCTTGAGCCGCTCCTCCA	0.607																																						ENST00000543610.1																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						c.(898-900)cgG>cgA		chromosome 16 open reading frame 93							91.0	89.0	90.0					16																	30768893		2197	4300	6497	SO:0001819	synonymous_variant	90835							g.chr16:30768893C>T	BC042548	CCDS32434.1, CCDS32434.2, CCDS55993.1	16p11.2	2012-10-10			ENSG00000196118	ENSG00000196118			28078	protein-coding gene	gene with protein product							Standard	NM_001195620		Approved	MGC104706	uc002dzm.3	A1A4V9	OTTHUMG00000167926	ENST00000543610.1:c.900G>A	16.37:g.30768893C>T						C16orf93_ENST00000541260.1_Silent_p.R365R|PHKG2_ENST00000424889.3_Intron|PHKG2_ENST00000563588.1_3'UTR	p.R300R	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN			9	1861	-			300					A1A4V8|F5GX13|Q569G2	Silent	SNP	ENST00000543610.1	37	c.900G>A	CCDS32434.2	.	.	.	.	.	.	.	.	.	.	C	4.971	0.180321	0.09443	.	.	ENSG00000196118	ENST00000535476	.	.	.	5.97	2.97	0.34412	.	.	.	.	.	T	0.54447	0.1859	.	.	.	0.53688	D	0.999971	.	.	.	.	.	.	T	0.45071	-0.9286	4	.	.	.	-7.5983	6.1942	0.20540	0.0:0.6832:0.1532:0.1635	.	.	.	.	D	167	.	.	G	-	2	0	C16orf93	30676394	0.922000	0.31269	0.134000	0.22075	0.562000	0.35680	0.541000	0.23207	0.421000	0.25980	0.655000	0.94253	GGC		0.607	C16orf93-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397089.1	NM_001014979		5	687	0	0	0	1	0	5	687				
CTNNA3	29119	broad.mit.edu	37	10	67680252	67680252	+	Missense_Mutation	SNP	G	G	A	rs199852825		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr10:67680252G>A	ENST00000433211.2	-	18	2698	c.2524C>T	c.(2524-2526)Cgg>Tgg	p.R842W	CTNNA3_ENST00000373744.4_Missense_Mutation_p.R842W|CTNNA3_ENST00000373735.1_5'UTR	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ACTGGGTGCCGGGGCCCAGCA	0.478																																						ENST00000433211.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						c.(2524-2526)Cgg>Tgg		catenin (cadherin-associated protein), alpha 3		G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	87.0	89.0	88.0		2524,2524	2.9	1.0	10		88	0,8600		0,0,4300	no	missense,missense	CTNNA3	NM_001127384.1,NM_013266.2	101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	842/896,842/896	67680252	1,13005	2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:67680252G>A	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.2524C>T	10.37:g.67680252G>A	ENSP00000389714:p.Arg842Trp					CTNNA3_ENST00000373744.4_Missense_Mutation_p.R842W|CTNNA3_ENST00000373735.1_Missense_Mutation_p.R181W	p.R842W	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN			18	2698	-			842						Missense_Mutation	SNP	ENST00000433211.2	37	c.2524C>T	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709574	0.68730	2.27E-4	0.0	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000373735	T;T;T	0.37235	1.21;1.21;1.21	5.92	2.87	0.33458	.	0.000000	0.52532	D	0.000080	T	0.43875	0.1267	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.44513	-0.9323	10	0.72032	D	0.01	-12.5285	13.3618	0.60661	0.0:0.0:0.423:0.577	.	842	Q9UI47	CTNA3_HUMAN	W	842;842;181	ENSP00000389714:R842W;ENSP00000362849:R842W;ENSP00000362840:R181W	ENSP00000362840:R181W	R	-	1	2	CTNNA3	67350258	1.000000	0.71417	0.980000	0.43619	0.984000	0.73092	2.574000	0.46016	0.779000	0.33543	-0.169000	0.13324	CGG		0.478	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		8	636	0	0	0	1	0	8	636				
ABCA1	19	broad.mit.edu	37	9	107620844	107620844	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:107620844G>A	ENST00000374736.3	-	7	1073	c.679C>T	c.(679-681)Cga>Tga	p.R227*	ABCA1_ENST00000423487.2_Nonsense_Mutation_p.R227*	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	227					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)	CGAAGTACTCGCTCTGCTGCA	0.468																																						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.(679-681)Cga>Tga		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						163.0	160.0	161.0					9																	107620844		2203	4300	6503	SO:0001587	stop_gained	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.chr9:107620844G>A	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.679C>T	9.37:g.107620844G>A	ENSP00000363868:p.Arg227*					ABCA1_ENST00000423487.2_Nonsense_Mutation_p.R227*	p.R227*	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	7	1073	-			227					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Nonsense_Mutation	SNP	ENST00000374736.3	37	c.679C>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915688	0.92178	.	.	ENSG00000165029	ENST00000374736;ENST00000423487	.	.	.	6.17	3.26	0.37387	.	1.116260	0.06418	N	0.721847	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	8.0132	0.30365	0.0726:0.0:0.5413:0.3861	.	.	.	.	X	227	.	ENSP00000363868:R227X	R	-	1	2	ABCA1	106660665	0.015000	0.18098	0.018000	0.16275	0.002000	0.02628	0.895000	0.28363	0.924000	0.37069	0.655000	0.94253	CGA		0.468	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		90	437	0	0	0	1	0	90	437				
CHD7	55636	broad.mit.edu	37	8	61654852	61654852	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:61654852G>A	ENST00000423902.2	+	2	1340	c.861G>A	c.(859-861)ccG>ccA	p.P287P	CHD7_ENST00000525508.1_Silent_p.P287P|CHD7_ENST00000524602.1_Silent_p.P287P	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	287					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)	p.P287P(2)		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)			CTGTTAGGCCGCAAACCCTTA	0.512																																						ENST00000423902.2																			2	Substitution - coding silent(2)	p.P287P(2)	lung(2)	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.(859-861)ccG>ccA		chromodomain helicase DNA binding protein 7							96.0	96.0	96.0					8																	61654852		1909	4121	6030	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.chr8:61654852G>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.861G>A	8.37:g.61654852G>A						CHD7_ENST00000524602.1_Silent_p.P287P|CHD7_ENST00000525508.1_Silent_p.P287P	p.P287P	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		2	1340	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	287					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	c.861G>A	CCDS47865.1																																																																																				0.512	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		7	748	0	0	0	1	0	7	748				
ERG	2078	broad.mit.edu	37	21	39755612	39755612	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr21:39755612G>A	ENST00000417133.2	-	12	1359	c.1174C>T	c.(1174-1176)Cgc>Tgc	p.R392C	ERG_ENST00000398911.1_Missense_Mutation_p.R368C|ERG_ENST00000453032.2_Missense_Mutation_p.R293C|ERG_ENST00000442448.1_Missense_Mutation_p.R368C|ERG_ENST00000398897.1_Missense_Mutation_p.R269C|ERG_ENST00000398907.1_Missense_Mutation_p.R362C|ERG_ENST00000288319.7_Missense_Mutation_p.R385C|ERG_ENST00000398919.2_Missense_Mutation_p.R392C|ERG_ENST00000398905.1_Missense_Mutation_p.R361C|ERG_ENST00000398910.1_Missense_Mutation_p.R369C	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	TAGGCGTAGCGCTTCCCATGG	0.572			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""																																Esophageal Squamous(130;336 1700 3010 3083 40589)	ENST00000442448.1				Dom	yes		21	21q22.3	2078	T	v-ets erythroblastosis virus E26 oncogene like (avian)			"""M, E, L"""	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""		"""Ewing sarcoma, prostate, AML"""	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	0				lung(2)|ovary(1)|skin(1)	4						c.(1102-1104)Cgc>Tgc		v-ets avian erythroblastosis virus E26 oncogene homolog							140.0	118.0	126.0					21																	39755612		2203	4300	6503	SO:0001583	missense	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39755612G>A		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"""v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific"""	165080	"""v-ets avian erythroblastosis virus E26 oncogene related"""			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.1174C>T	21.37:g.39755612G>A	ENSP00000414150:p.Arg392Cys					ERG_ENST00000398919.2_Missense_Mutation_p.R392C|ERG_ENST00000288319.7_Missense_Mutation_p.R385C|ERG_ENST00000417133.2_Missense_Mutation_p.R392C|ERG_ENST00000398897.1_Missense_Mutation_p.R269C|ERG_ENST00000398905.1_Missense_Mutation_p.R361C|ERG_ENST00000398907.1_Missense_Mutation_p.R362C|ERG_ENST00000398911.1_Missense_Mutation_p.R368C|ERG_ENST00000398910.1_Missense_Mutation_p.R369C|ERG_ENST00000453032.2_Missense_Mutation_p.R293C	p.R368C	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN			11	1373	-		Prostate(19;3.6e-06)	392					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000417133.2	37	c.1102C>T	CCDS46648.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728867	0.89390	.	.	ENSG00000157554	ENST00000398905;ENST00000398907;ENST00000288319;ENST00000398897;ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000453032;ENST00000398919	T;T;T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.2	5.2	0.72013	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.63319	0.2501	M	0.87758	2.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.992;1.0;1.0;0.957	T	0.70905	-0.4745	10	0.87932	D	0	.	18.7596	0.91845	0.0:0.0:1.0:0.0	.	392;361;368;385	P11308;B5MDW0;P11308-1;P11308-4	ERG_HUMAN;.;.;.	C	361;362;385;269;368;392;369;368;293;392	ENSP00000381877:R361C;ENSP00000381879:R362C;ENSP00000288319:R385C;ENSP00000381871:R269C;ENSP00000381882:R368C;ENSP00000414150:R392C;ENSP00000381881:R369C;ENSP00000394694:R368C;ENSP00000396268:R293C;ENSP00000381891:R392C	ENSP00000288319:R385C	R	-	1	0	ERG	38677482	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.869000	0.99810	2.404000	0.81709	0.655000	0.94253	CGC		0.572	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		17	606	0	0	0	1	0	17	606				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000544772.1_Silent_p.S151S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		8	386	0	0	0	1	0	8	386				
SCYL1	57410	broad.mit.edu	37	11	65299135	65299135	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:65299135G>A	ENST00000270176.5	+	8	1174	c.1097G>A	c.(1096-1098)cGc>cAc	p.R366H	SCYL1_ENST00000524944.1_Missense_Mutation_p.R366H|SCYL1_ENST00000420247.2_Missense_Mutation_p.R366H|SCYL1_ENST00000525364.1_Missense_Mutation_p.R366H|SCYL1_ENST00000527009.1_Missense_Mutation_p.R223H|SCYL1_ENST00000533862.1_Missense_Mutation_p.R366H|SCYL1_ENST00000279270.6_Missense_Mutation_p.R366H	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	366					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						CGGGCCATGCGCATCCGCCTC	0.617																																						ENST00000524944.1																			0				ovary(1)|skin(1)	2						c.(1096-1098)cGc>cAc		SCY1-like 1 (S. cerevisiae)							67.0	68.0	68.0					11																	65299135		2145	4260	6405	SO:0001583	missense	57410				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	g.chr11:65299135G>A	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1097G>A	11.37:g.65299135G>A	ENSP00000270176:p.Arg366His					SCYL1_ENST00000527630.1_Missense_Mutation_p.R366H|SCYL1_ENST00000527009.1_Missense_Mutation_p.R223H|SCYL1_ENST00000279270.6_Missense_Mutation_p.R366H|SCYL1_ENST00000533862.1_Missense_Mutation_p.R366H|SCYL1_ENST00000270176.5_Missense_Mutation_p.R366H|SCYL1_ENST00000525364.1_Missense_Mutation_p.R366H|SCYL1_ENST00000420247.2_Missense_Mutation_p.R366H	p.R366H			Q96KG9	NTKL_HUMAN			8	1130	+			366					A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Missense_Mutation	SNP	ENST00000270176.5	37	c.1097G>A	CCDS41672.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.925405	0.92319	.	.	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009	T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.17	5.17	0.71159	Armadillo-like helical (1);Armadillo-type fold (1);	0.179297	0.45361	D	0.000375	T	0.74473	0.3721	M	0.90595	3.13	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.997;0.998	D;D;D;D;P	0.75484	0.949;0.986;0.981;0.928;0.85	T	0.80327	-0.1429	10	0.87932	D	0	-8.8898	16.593	0.84772	0.0:0.0:1.0:0.0	.	366;366;366;366;366	E9PS17;Q96KG9-4;Q96KG9-6;Q96KG9-2;Q96KG9	.;.;.;.;NTKL_HUMAN	H	366;366;366;366;366;366;366;366;223	ENSP00000270176:R366H;ENSP00000431635:R366H;ENSP00000408192:R366H;ENSP00000437254:R366H;ENSP00000433450:R366H;ENSP00000279270:R366H;ENSP00000432175:R366H;ENSP00000436993:R223H	ENSP00000270176:R366H	R	+	2	0	SCYL1	65055711	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.515000	0.90548	2.609000	0.88269	0.650000	0.86243	CGC		0.617	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		5	230	0	0	0	1	0	5	230				
KRT6A	3853	broad.mit.edu	37	12	52881586	52881586	+	Missense_Mutation	SNP	C	C	G	rs200198490		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:52881586C>G	ENST00000330722.6	-	9	1681	c.1613G>C	c.(1612-1614)gGc>gCc	p.G538A		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	538	Tail.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGAGCTGAGGCCACCCCCAAT	0.577																																						ENST00000330722.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(1612-1614)gGc>gCc		keratin 6A							75.0	84.0	81.0					12																	52881586		2203	4298	6501	SO:0001583	missense	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52881586C>G	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1613G>C	12.37:g.52881586C>G	ENSP00000369317:p.Gly538Ala						p.G538A	NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	9	1681	-			538			Tail.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	c.1613G>C	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	c	12.31	1.900672	0.33535	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.91124	-2.79	4.58	3.67	0.42095	.	0.000000	0.46758	D	0.000262	D	0.89536	0.6743	M	0.85542	2.76	0.30471	N	0.773342	B	0.29378	0.243	B	0.28991	0.097	T	0.82906	-0.0225	10	0.13108	T	0.6	.	12.0413	0.53454	0.0:0.8481:0.0:0.1519	.	538	P02538	K2C6A_HUMAN	A	538;494	ENSP00000369317:G538A	ENSP00000369317:G538A	G	-	2	0	KRT6A	51167853	0.213000	0.23551	0.995000	0.50966	0.991000	0.79684	3.180000	0.50895	1.206000	0.43276	0.650000	0.86243	GGC		0.577	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		5	569	0	0	0	1	0	5	569				
RNASEL	6041	broad.mit.edu	37	1	182555377	182555377	+	Missense_Mutation	SNP	C	C	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:182555377C>A	ENST00000367559.3	-	2	818	c.565G>T	c.(565-567)Gat>Tat	p.D189Y	RNASEL_ENST00000539397.1_Missense_Mutation_p.D189Y|RNASEL_ENST00000444138.1_Missense_Mutation_p.D189Y	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	189					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CCCATCTCATCAAGGAGAATC	0.502																																						ENST00000367559.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						c.(565-567)Gat>Tat		ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)							109.0	94.0	99.0					1																	182555377		2203	4300	6503	SO:0001583	missense	6041				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	g.chr1:182555377C>A	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.565G>T	1.37:g.182555377C>A	ENSP00000356530:p.Asp189Tyr					RNASEL_ENST00000539397.1_Missense_Mutation_p.D189Y|RNASEL_ENST00000444138.1_Missense_Mutation_p.D189Y	p.D189Y	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN			2	818	-			189					Q5W0L2|Q6AI46	Missense_Mutation	SNP	ENST00000367559.3	37	c.565G>T	CCDS1347.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830035	0.50845	.	.	ENSG00000135828	ENST00000367559;ENST00000444138;ENST00000539397	T;T;T	0.66460	-0.21;-0.21;-0.21	4.81	-0.887	0.10587	Ankyrin repeat-containing domain (3);	1.494410	0.03827	N	0.268530	T	0.51719	0.1691	N	0.08118	0	0.09310	N	1	P;P;P	0.51653	0.947;0.947;0.947	P;P;P	0.47626	0.552;0.552;0.552	T	0.49082	-0.8976	10	0.62326	D	0.03	-1.9781	6.5213	0.22277	0.0:0.3766:0.341:0.2825	.	189;189;189	Q5W0L2;Q6AI46;Q05823	.;.;RN5A_HUMAN	Y	189	ENSP00000356530:D189Y;ENSP00000411147:D189Y;ENSP00000440844:D189Y	ENSP00000356530:D189Y	D	-	1	0	RNASEL	180822000	0.001000	0.12720	0.000000	0.03702	0.101000	0.19017	-0.153000	0.10144	-0.157000	0.11059	0.563000	0.77884	GAT		0.502	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		5	470	1	0	1.024e-07	1	1.07293e-07	5	470				
ITGA4	3676	broad.mit.edu	37	2	182360534	182360534	+	Silent	SNP	C	C	T	rs183217259		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:182360534C>T	ENST00000397033.2	+	14	1840	c.1410C>T	c.(1408-1410)gaC>gaT	p.D470D		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	470					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TAATTGTTGACGCTTCTTTAA	0.358													C|||	1	0.000199681	0.0	0.0	5008	,	,		21539	0.001		0.0	False		,,,				2504	0.0					ENST00000397033.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(1408-1410)gaC>gaT		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						127.0	115.0	119.0					2																	182360534		1879	4112	5991	SO:0001819	synonymous_variant	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182360534C>T		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1410C>T	2.37:g.182360534C>T							p.D470D	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		14	1840	+			470					D3DPG4|Q7Z4L6	Silent	SNP	ENST00000397033.2	37	c.1410C>T	CCDS42788.1																																																																																				0.358	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			54	339	0	0	0	1	0	54	339				
MYEOV	26579	broad.mit.edu	37	11	69063478	69063478	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:69063478G>A	ENST00000308946.3	+	3	1011	c.561G>A	c.(559-561)cgG>cgA	p.R187R	MYEOV_ENST00000535407.1_Silent_p.R129R|MYEOV_ENST00000441339.2_Silent_p.R187R	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	187										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		TGCATGGGCGGCATGGGCTCT	0.627																																						ENST00000535407.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(385-387)cgG>cgA		myeloma overexpressed							151.0	142.0	145.0					11																	69063478		2200	4294	6494	SO:0001819	synonymous_variant	26579							g.chr11:69063478G>A	AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"""myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"""			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.561G>A	11.37:g.69063478G>A						MYEOV_ENST00000308946.3_Silent_p.R187R|MYEOV_ENST00000441339.2_Silent_p.R187R	p.R129R			Q96EZ4	MYEOV_HUMAN	LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)	2	1030	+	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		187					Q9UGN6|Q9UGN7	Silent	SNP	ENST00000308946.3	37	c.387G>A	CCDS8190.1																																																																																				0.627	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396548.1			6	814	0	0	0	1	0	6	814				
IGHA1	3493	broad.mit.edu	37	14	106173748	106173748	+	RNA	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr14:106173748G>A	ENST00000390547.2	-	0	818				AL928768.3_ENST00000497872.2_lincRNA			P01876	IGHA1_HUMAN	immunoglobulin heavy constant alpha 1						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|protein-chromophore linkage (GO:0018298)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										GGTACTTCTCGCGGGGCAGCT	0.662																																						ENST00000390547.2																			0																				32.0	51.0	45.0					14																	106173748		2109	4233	6342			0							g.chr14:106173748G>A	J00220		14q32.33	2012-10-02			ENSG00000211895	ENSG00000211895		"""Immunoglobulins / IGH locus"""	5478	other	immunoglobulin gene		146900					Standard	NG_001019		Approved			P01876	OTTHUMG00000152494		14.37:g.106173748G>A														0	818	-									RNA	SNP	ENST00000390547.2	37																																																																																						0.662	IGHA1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326459.1	NG_001019		20	356	0	0	0	1	0	20	356				
HNRNPH1	3187	broad.mit.edu	37	5	179044053	179044053	+	Splice_Site	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:179044053G>A	ENST00000356731.5	-	9	2651	c.1116C>T	c.(1114-1116)taC>taT	p.Y372Y	HNRNPH1_ENST00000393432.4_Splice_Site_p.Y372Y|HNRNPH1_ENST00000442819.2_Splice_Site_p.Y372Y|HNRNPH1_ENST00000511300.2_Silent_p.Y102Y|HNRNPH1_ENST00000329433.6_Splice_Site_p.Y372Y|HNRNPH1_ENST00000524180.1_5'Flank|HNRNPH1_ENST00000510411.1_Silent_p.Y372Y			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	372	2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						TTTGGCTACCGTAAGCACCAC	0.373																																						ENST00000356731.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						c.e9+1		heterogeneous nuclear ribonucleoprotein H1 (H)							105.0	102.0	103.0					5																	179044053		2203	4300	6503	SO:0001630	splice_region_variant	3187				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding	g.chr5:179044053G>A	BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"""RNA binding motif (RRM) containing"""	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.1117+1C>T	5.37:g.179044053G>A						HNRNPH1_ENST00000393432.4_Splice_Site_p.Y372_splice|HNRNPH1_ENST00000511300.2_Silent_p.Y102Y|HNRNPH1_ENST00000510411.1_Silent_p.Y372Y|HNRNPH1_ENST00000442819.2_Splice_Site_p.Y372_splice|HNRNPH1_ENST00000329433.6_Splice_Site_p.Y372_splice	p.Y372_splice			P31943	HNRH1_HUMAN			9	2651	-			372			2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.		B3KW86|D3DWQ2|Q6IBM4	Splice_Site	SNP	ENST00000356731.5	37	c.1117_splice	CCDS4446.1	.	.	.	.	.	.	.	.	.	.	g	12.51	1.960606	0.34565	.	.	ENSG00000169045	ENST00000521173	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	T	0.58750	0.2144	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57271	-0.7840	4	.	.	.	-9.1144	8.0021	0.30304	0.192:0.0:0.808:0.0	.	.	.	.	M	247	.	.	T	-	2	0	HNRNPH1	178976659	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.877000	0.28106	2.730000	0.93505	0.644000	0.83932	ACG		0.373	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	NM_005520	Silent	6	520	0	0	0	1	0	6	520				
RRP12	23223	broad.mit.edu	37	10	99126559	99126559	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr10:99126559G>A	ENST00000370992.4	-	27	3266	c.3155C>T	c.(3154-3156)gCc>gTc	p.A1052V	RRP12_ENST00000536831.1_Missense_Mutation_p.A770V|RRP12_ENST00000414986.1_Missense_Mutation_p.A991V|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000315563.6_Missense_Mutation_p.A952V	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1052						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		ctcctccACGGCAGCCTGGCT	0.642																																						ENST00000370992.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(3154-3156)gCc>gTc		ribosomal RNA processing 12 homolog (S. cerevisiae)							108.0	123.0	118.0					10																	99126559		2203	4300	6503	SO:0001583	missense	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99126559G>A		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.3155C>T	10.37:g.99126559G>A	ENSP00000360031:p.Ala1052Val					RRP12_ENST00000315563.6_Missense_Mutation_p.A952V|RRP12_ENST00000536831.1_Missense_Mutation_p.A770V|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Missense_Mutation_p.A991V	p.A1052V	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	27	3266	-		Colorectal(252;0.162)	1052					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	c.3155C>T	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.395000	0.25205	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.34859	1.34;1.35;1.35;1.35	4.7	3.79	0.43588	.	0.184388	0.46442	D	0.000284	T	0.28863	0.0716	L	0.31926	0.97	0.39444	D	0.967292	B;B;B;B	0.22146	0.016;0.065;0.027;0.009	B;B;B;B	0.21917	0.004;0.037;0.037;0.01	T	0.06698	-1.0812	10	0.33141	T	0.24	-1.8106	14.2053	0.65730	0.0:0.0:0.8493:0.1507	.	991;952;770;1052	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	V	1052;952;991;770	ENSP00000360031:A1052V;ENSP00000324315:A952V;ENSP00000414863:A991V;ENSP00000446184:A770V	ENSP00000324315:A952V	A	-	2	0	RRP12	99116549	0.912000	0.30974	0.455000	0.27031	0.045000	0.14185	3.330000	0.52068	0.955000	0.37878	-0.310000	0.09108	GCC		0.642	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		7	1358	0	0	0	1	0	7	1358				
EPB41L1	2036	broad.mit.edu	37	20	34773105	34773105	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr20:34773105G>A	ENST00000338074.2	+	7	794	c.633G>A	c.(631-633)acG>acA	p.T211T	EPB41L1_ENST00000373946.3_Silent_p.T180T|EPB41L1_ENST00000202028.5_Silent_p.T149T|EPB41L1_ENST00000441639.1_Silent_p.T149T|EPB41L1_ENST00000373941.1_Silent_p.T211T|EPB41L1_ENST00000373950.2_Silent_p.T114T	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	211	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CCTTTGTCACGCATGCCCTAC	0.612																																						ENST00000338074.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						c.(631-633)acG>acA		erythrocyte membrane protein band 4.1-like 1							75.0	67.0	70.0					20																	34773105		2203	4300	6503	SO:0001819	synonymous_variant	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34773105G>A	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.633G>A	20.37:g.34773105G>A						EPB41L1_ENST00000441639.1_Silent_p.T149T|EPB41L1_ENST00000202028.5_Silent_p.T149T|EPB41L1_ENST00000373946.3_Silent_p.T180T|EPB41L1_ENST00000373941.1_Silent_p.T211T|EPB41L1_ENST00000373950.2_Silent_p.T114T	p.T211T	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN			7	794	+	Breast(12;0.0239)		211			FERM.		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Silent	SNP	ENST00000338074.2	37	c.633G>A	CCDS13271.1																																																																																				0.612	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		5	422	0	0	0	1	0	5	422				
BMS1P20	96610	broad.mit.edu	37	22	22661276	22661276	+	RNA	SNP	T	T	C	rs2329972	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:22661276T>C	ENST00000426066.1	+	0	360					NR_027293.1				BMS1 pseudogene 20																		GATGTACGTCTGCGTTGAGAT	0.488													.|||	7	0.00139776	0.0023	0.0	5008	,	,		18658	0.002		0.001	False		,,,				2504	0.001					ENST00000426066.1																			0																																																			0							g.chr22:22661276T>C			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661276T>C								NR_027293.1						0	360	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.488	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			8	328	0	0	0	1	0	8	328				
ZC3H11A	9877	broad.mit.edu	37	1	203821508	203821508	+	Nonsense_Mutation	SNP	C	C	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:203821508C>G	ENST00000545588.1	+	17	6241	c.2414C>G	c.(2413-2415)tCa>tGa	p.S805*	ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S805*	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	805					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S805*(3)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CTTGAGCTATCAGAAATGATT	0.378																																						ENST00000545588.1																			3	Substitution - Nonsense(3)	p.S805*(3)	endometrium(2)|lung(1)	central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2413-2415)tCa>tGa		zinc finger CCCH-type containing 11A																																				SO:0001587	stop_gained	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203821508C>G		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.2414C>G	1.37:g.203821508C>G	ENSP00000438527:p.Ser805*					ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S805*	p.S805*	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		17	6241	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		805					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Nonsense_Mutation	SNP	ENST00000545588.1	37	c.2414C>G	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	C	40	8.446087	0.98815	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	.	.	.	5.9	4.99	0.66335	.	0.140252	0.49916	D	0.000132	.	.	.	.	.	.	0.45172	D	0.998181	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.7509	15.4578	0.75330	0.14:0.86:0.0:0.0	.	.	.	.	X	805;751;805;805;805;805	.	ENSP00000333253:S805X	S	+	2	0	ZC3H11A	202088131	1.000000	0.71417	0.920000	0.36463	0.858000	0.48976	6.206000	0.72154	1.492000	0.48499	-0.175000	0.13238	TCA		0.378	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		5	304	0	0	0	1	0	5	304				
VCX	26609	broad.mit.edu	37	X	7811799	7811799	+	Silent	SNP	A	A	G	rs138805744		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:7811799A>G	ENST00000381059.3	+	3	582	c.363A>G	c.(361-363)gaA>gaG	p.E121E	VCX_ENST00000341408.4_Intron	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	121	10 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.				chromatin organization (GO:0006325)|ribosome assembly (GO:0042255)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				GCGAGGTGGAAGAACCACTGA	0.627																																						ENST00000381059.3																			0				NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(361-363)gaA>gaG		variable charge, X-linked							42.0	54.0	50.0					X																	7811799		2127	4087	6214	SO:0001819	synonymous_variant	26609				chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding	g.chrX:7811799A>G	AF167081	CCDS14128.1	Xp22.31	2008-02-05	2003-09-12		ENSG00000182583	ENSG00000182583			12667	protein-coding gene	gene with protein product		300229	"""variable charge, X chromosome"""			10607842, 10903929	Standard	NM_013452		Approved	VCX1, VCX10R, VCX-10r, VCX-B1	uc004crz.3	Q9H320	OTTHUMG00000028608	ENST00000381059.3:c.363A>G	X.37:g.7811799A>G						VCX_ENST00000341408.4_Intron	p.E121E	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN			3	582	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	121			10 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.		A0JNS5|Q4V774|Q9P0H3	Silent	SNP	ENST00000381059.3	37	c.363A>G	CCDS14128.1																																																																																				0.627	VCX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071474.1	NM_013452		5	975	0	0	0	1	0	5	975				
PCDH11X	27328	broad.mit.edu	37	X	91090851	91090851	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:91090851G>A	ENST00000373094.1	+	1	1193	c.348G>A	c.(346-348)ccG>ccA	p.P116P	PCDH11X_ENST00000361724.1_Silent_p.P116P|PCDH11X_ENST00000361655.2_Silent_p.P116P|PCDH11X_ENST00000298274.8_Silent_p.P116P|PCDH11X_ENST00000373088.1_Silent_p.P116P|PCDH11X_ENST00000395337.2_Silent_p.P116P|PCDH11X_ENST00000373097.1_Silent_p.P116P|PCDH11X_ENST00000504220.2_Silent_p.P116P|PCDH11X_ENST00000406881.1_Silent_p.P116P	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	116	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCATTTTGCCGGATGAAATAT	0.393																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(346-348)ccG>ccA		protocadherin 11 X-linked							75.0	69.0	71.0					X																	91090851		2202	4281	6483	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090851G>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.348G>A	X.37:g.91090851G>A						PCDH11X_ENST00000373097.1_Silent_p.P116P|PCDH11X_ENST00000395337.2_Silent_p.P116P|PCDH11X_ENST00000373088.1_Silent_p.P116P|PCDH11X_ENST00000406881.1_Silent_p.P116P|PCDH11X_ENST00000361655.2_Silent_p.P116P|PCDH11X_ENST00000504220.1_Silent_p.P116P|PCDH11X_ENST00000361724.1_Silent_p.P116P|PCDH11X_ENST00000298274.8_Silent_p.P116P	p.P116P	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			1	1193	+			116			Cadherin 1.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.348G>A	CCDS14461.1																																																																																				0.393	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		5	556	0	0	0	1	0	5	556				
PIK3CA	5290	broad.mit.edu	37	3	178952072	178952072	+	Missense_Mutation	SNP	A	A	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:178952072A>T	ENST00000263967.3	+	21	3284	c.3127A>T	c.(3127-3129)Atg>Ttg	p.M1043L	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		M -> I (in MCAP and CRC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.M1043V(22)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CATGAAACAAATGAATGATGC	0.368		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		22	Substitution - Missense(22)	p.M1043V(22)	endometrium(9)|breast(6)|upper_aerodigestive_tract(3)|large_intestine(1)|central_nervous_system(1)|lung(1)|ovary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3127-3129)Atg>Ttg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							97.0	87.0	91.0					3																	178952072		1905	4126	6031	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952072A>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3127A>T	3.37:g.178952072A>T	ENSP00000263967:p.Met1043Leu	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.M1043L	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3284	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1043		M -> I (in cancer; shows an increase in lipid kinase activity).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3127A>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.313034	0.40895	.	.	ENSG00000121879	ENST00000263967	T	0.79845	-1.31	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.61464	0.2349	N	0.01761	-0.735	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.59674	-0.7410	10	0.46703	T	0.11	-20.5202	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1043	P42336	PK3CA_HUMAN	L	1043	ENSP00000263967:M1043L	ENSP00000263967:M1043L	M	+	1	0	PIK3CA	180434766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	ATG		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			160	318	0	0	0	1	0	160	318				
SLC22A23	63027	broad.mit.edu	37	6	3287312	3287312	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:3287312C>T	ENST00000406686.3	-	7	1326	c.1327G>A	c.(1327-1329)Ggg>Agg	p.G443R	PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000380302.4_Missense_Mutation_p.G162R|SLC22A23_ENST00000436008.2_Missense_Mutation_p.G443R|SLC22A23_ENST00000490273.1_Missense_Mutation_p.G162R	NM_015482.1	NP_056297.1	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	443					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				TGGTGGATCCCGTACCCCGTC	0.632																																						ENST00000436008.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14						c.(1327-1329)Ggg>Agg		solute carrier family 22, member 23							104.0	76.0	86.0					6																	3287312		2203	4300	6503	SO:0001583	missense	63027				ion transport	integral to membrane	transmembrane transporter activity	g.chr6:3287312C>T	AJ420525	CCDS34331.1, CCDS47363.1, CCDS75389.1	6p25.2	2013-05-22	2008-01-11	2008-01-11	ENSG00000137266	ENSG00000137266		"""Solute carriers"""	21106	protein-coding gene	gene with protein product		611697	"""chromosome 6 open reading frame 85"""	C6orf85		17714910	Standard	NM_015482		Approved	FLJ22174	uc003mvm.3	A1A5C7	OTTHUMG00000014144	ENST00000406686.3:c.1327G>A	6.37:g.3287312C>T	ENSP00000385028:p.Gly443Arg					SLC22A23_ENST00000380302.4_Missense_Mutation_p.G162R|SLC22A23_ENST00000490273.1_Missense_Mutation_p.G162R|PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000406686.3_Missense_Mutation_p.G443R	p.G443R			A1A5C7	S22AN_HUMAN			7	1789	-	Ovarian(93;0.0493)	all_hematologic(90;0.0905)	443					A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73	Missense_Mutation	SNP	ENST00000406686.3	37	c.1327G>A	CCDS47363.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.754114	0.89843	.	.	ENSG00000137266	ENST00000436008;ENST00000406686;ENST00000380302;ENST00000490273;ENST00000485307;ENST00000467177	T;T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	4.4	4.4	0.53042	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.79936	0.4532	L	0.52011	1.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82043	-0.0653	10	0.62326	D	0.03	-24.5244	17.1854	0.86865	0.0:1.0:0.0:0.0	.	443;443	C9J4Z0;A1A5C7	.;S22AN_HUMAN	R	443;443;162;162;271;269	ENSP00000410245:G443R;ENSP00000385028:G443R;ENSP00000369657:G162R;ENSP00000419463:G162R;ENSP00000418134:G271R;ENSP00000418985:G269R	ENSP00000369657:G162R	G	-	1	0	SLC22A23	3232311	1.000000	0.71417	0.994000	0.49952	0.938000	0.57974	7.151000	0.77411	2.284000	0.76573	0.655000	0.94253	GGG		0.632	SLC22A23-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353059.1	NM_021945		32	137	0	0	0	1	0	32	137				
PROX1	5629	broad.mit.edu	37	1	214171209	214171209	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:214171209G>A	ENST00000366958.4	+	2	1939	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	PROX1_ENST00000261454.4_Missense_Mutation_p.R444H|PROX1_ENST00000498508.2_Missense_Mutation_p.R444H|PROX1_ENST00000435016.1_Missense_Mutation_p.R444H	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	444					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CTGGTTGTCCGCAAAAACTCC	0.627																																						ENST00000366958.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(1330-1332)cGc>cAc		prospero homeobox 1							78.0	87.0	84.0					1																	214171209		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214171209G>A	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1331G>A	1.37:g.214171209G>A	ENSP00000355925:p.Arg444His					PROX1_ENST00000435016.1_Missense_Mutation_p.R444H|PROX1_ENST00000498508.2_Missense_Mutation_p.R444H|PROX1_ENST00000261454.4_Missense_Mutation_p.R444H	p.R444H	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1939	+			444					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.1331G>A	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889855	0.72524	.	.	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.55760	0.54;0.5;0.54;0.54	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.72740	0.3498	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.73069	-0.4099	10	0.56958	D	0.05	-3.4891	19.6473	0.95784	0.0:0.0:1.0:0.0	.	444	Q92786	PROX1_HUMAN	H	16;444;444;444;444	ENSP00000420283:R444H;ENSP00000355925:R444H;ENSP00000400694:R444H;ENSP00000261454:R444H	ENSP00000261454:R444H	R	+	2	0	PROX1	212237832	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.762000	0.74950	2.650000	0.89964	0.591000	0.81541	CGC		0.627	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		7	796	0	0	0	1	0	7	796				
MYLK	4638	broad.mit.edu	37	3	123428605	123428605	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:123428605G>A	ENST00000475616.1	-	11	1939	c.1940C>T	c.(1939-1941)tCa>tTa	p.S647L	MYLK_ENST00000360304.3_Missense_Mutation_p.S647L|MYLK_ENST00000346322.5_Missense_Mutation_p.S578L|MYLK_ENST00000360772.3_Missense_Mutation_p.S647L|MYLK_ENST00000359169.1_Missense_Mutation_p.S647L			Q15746	MYLK_HUMAN	myosin light chain kinase	647	Ig-like C2-type 5.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGACAGACCTGACACTTGGAC	0.537																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(1939-1941)tCa>tTa		myosin light chain kinase							245.0	262.0	256.0					3																	123428605		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123428605G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1940C>T	3.37:g.123428605G>A	ENSP00000418335:p.Ser647Leu					MYLK_ENST00000360304.3_Missense_Mutation_p.S647L|MYLK_ENST00000359169.1_Missense_Mutation_p.S647L|MYLK_ENST00000475616.1_Missense_Mutation_p.S647L|MYLK_ENST00000346322.5_Missense_Mutation_p.S578L	p.S647L			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	15	2318	-		Lung NSC(201;0.0496)	647			Ig-like C2-type 5.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.1940C>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887908	0.91814	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	5.05	5.05	0.67936	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70675	0.3251	L	0.28649	0.875	0.80722	D	1	P;B;D;P;P	0.55172	0.944;0.355;0.97;0.858;0.955	P;B;P;P;P	0.60541	0.804;0.171;0.804;0.491;0.876	T	0.66806	-0.5830	9	0.27082	T	0.32	.	18.5896	0.91204	0.0:0.0:1.0:0.0	.	647;578;647;578;647	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	L	647;647;647;578;647	ENSP00000354004:S647L;ENSP00000353452:S647L;ENSP00000352088:S647L;ENSP00000320622:S578L;ENSP00000418335:S647L	ENSP00000320622:S578L	S	-	2	0	MYLK	124911295	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.742000	0.68646	2.622000	0.88805	0.650000	0.86243	TCA		0.537	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		19	2011	0	0	0	1	0	19	2011				
GPR78	27201	broad.mit.edu	37	4	8582937	8582937	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:8582937C>T	ENST00000382487.4	+	1	645	c.228C>T	c.(226-228)ccC>ccT	p.P76P	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	76					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CGTCGGCGCCCGGCGCATGCC	0.687																																						ENST00000382487.4																			0				central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(226-228)ccC>ccT		G protein-coupled receptor 78							15.0	18.0	17.0					4																	8582937		2200	4294	6494	SO:0001819	synonymous_variant	27201				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr4:8582937C>T	AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"""GPCR / Class A : Orphans"""	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.228C>T	4.37:g.8582937C>T						GPR78_ENST00000509216.1_Intron	p.P76P	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN			1	645	+			76					Q8NGV3	Silent	SNP	ENST00000382487.4	37	c.228C>T	CCDS3403.1																																																																																				0.687	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			15	85	0	0	0	1	0	15	85				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72685542	72685542	+	RNA	SNP	G	G	A	rs2539086		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:72685542G>A	ENST00000425256.1	-	0	116									GTF2I repeat domain containing 2 pseudogene 1																		ACGTTACCATGACAAAAGCAG	0.463																																						ENST00000425256.1																			0																																																			0							g.chr7:72685542G>A	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72685542G>A								NR_002164.1						0	116	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.463	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		7	839	0	0	0	1	0	7	839				
SCN1A	6323	broad.mit.edu	37	2	166901827	166901827	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:166901827G>A	ENST00000303395.4	-	10	1387	c.1388C>T	c.(1387-1389)aCg>aTg	p.T463M	SCN1A_ENST00000423058.2_Missense_Mutation_p.T463M|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.T463M|SCN1A_ENST00000409050.1_Missense_Mutation_p.T463M			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	463					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGCAGTTGCCGTTGCTGCCTG	0.443																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(1387-1389)aCg>aTg		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						71.0	74.0	73.0					2																	166901827		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166901827G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1388C>T	2.37:g.166901827G>A	ENSP00000303540:p.Thr463Met					AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.T463M|SCN1A_ENST00000303395.4_Missense_Mutation_p.T463M|SCN1A_ENST00000375405.3_Missense_Mutation_p.T463M|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA	p.T463M	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			10	1405	-			463					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.1388C>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.507602	0.27036	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	5.37	4.49	0.54785	.	0.572471	0.15627	N	0.252583	T	0.13286	0.0322	N	0.04203	-0.255	0.24301	N	0.99512	B;B;B	0.30021	0.265;0.173;0.173	B;B;B	0.25759	0.063;0.029;0.029	T	0.16305	-1.0407	10	0.37606	T	0.19	.	14.4281	0.67230	0.0709:0.0:0.9291:0.0	.	463;463;463	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	M	463	ENSP00000407030:T463M;ENSP00000303540:T463M;ENSP00000364554:T463M;ENSP00000386312:T463M	ENSP00000303540:T463M	T	-	2	0	SCN1A	166610073	0.963000	0.33076	0.098000	0.21074	0.070000	0.16714	3.561000	0.53770	1.411000	0.46957	0.655000	0.94253	ACG		0.443	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		6	496	0	0	0	1	0	6	496				
ZC3H12C	85463	broad.mit.edu	37	11	110036119	110036119	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:110036119G>A	ENST00000278590.3	+	6	2360	c.2309G>A	c.(2308-2310)cGc>cAc	p.R770H	ZC3H12C_ENST00000453089.2_Missense_Mutation_p.R739H|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.R771H	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	770							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CCTTATTCCCGCCAGGAAGGC	0.552																																						ENST00000453089.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2215-2217)cGc>cAc		zinc finger CCCH-type containing 12C							99.0	103.0	102.0					11																	110036119		1973	4173	6146	SO:0001583	missense	85463						endonuclease activity|nucleic acid binding|zinc ion binding	g.chr11:110036119G>A		CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.2309G>A	11.37:g.110036119G>A	ENSP00000278590:p.Arg770His					ZC3H12C_ENST00000528673.1_Missense_Mutation_p.R771H|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.R770H	p.R739H			Q9C0D7	ZC12C_HUMAN		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)	5	3097	+		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	770					B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	c.2216G>A	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.459973	0.26248	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.31769	1.48;1.48;1.48	5.92	5.92	0.95590	.	0.526358	0.22068	N	0.065080	T	0.26231	0.0640	L	0.29908	0.895	0.36328	D	0.858707	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.16778	-1.0391	10	0.14656	T	0.56	-14.1476	20.3206	0.98668	0.0:0.0:1.0:0.0	.	771;770;770	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	H	770;771;739	ENSP00000278590:R770H;ENSP00000431821:R771H;ENSP00000413094:R739H	ENSP00000278590:R770H	R	+	2	0	ZC3H12C	109541329	0.997000	0.39634	0.996000	0.52242	0.081000	0.17604	2.472000	0.45136	2.809000	0.96659	0.655000	0.94253	CGC		0.552	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390		10	482	0	0	0	1	0	10	482				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		7	387	0	0	0	1	0	7	387				
ALG1L	200810	broad.mit.edu	37	3	125647387	125647387	+	IGR	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:125647387G>A	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						ACCAGAAACTGTTTCCCTATG	0.502																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:125647387G>A	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647387G>A								NR_024251.1						0	532	+								D3DNA5	RNA	SNP	ENST00000340333.3	37		CCDS33840.1																																																																																				0.502	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		11	808	0	0	0	1	0	11	808				
ZNF83	55769	broad.mit.edu	37	19	53116804	53116804	+	Silent	SNP	G	G	A	rs192432041	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:53116804G>A	ENST00000597597.1	-	2	3267	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Silent_p.I338I|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000301096.3_Silent_p.I338I|ZNF83_ENST00000391789.4_Silent_p.I310I|ZNF83_ENST00000544146.1_Silent_p.I338I|ZNF83_ENST00000536937.1_Silent_p.I338I|ZNF83_ENST00000545872.1_Silent_p.I338I|ZNF83_ENST00000601257.1_Intron			P51522	ZNF83_HUMAN	zinc finger protein 83	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I338I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CTCCAGTGTGGATTCTCCAGT	0.413													A|||	3	0.000599042	0.0	0.0014	5008	,	,		22957	0.001		0.001	False		,,,				2504	0.0					ENST00000597597.1																			1	Substitution - coding silent(1)	p.I338I(1)	lung(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(1012-1014)atC>atT		zinc finger protein 83							120.0	122.0	121.0					19																	53116804		2203	4300	6503	SO:0001819	synonymous_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53116804G>A	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.1014C>T	19.37:g.53116804G>A						ZNF83_ENST00000545872.1_Silent_p.I338I|ZNF83_ENST00000544146.1_Silent_p.I338I|ZNF83_ENST00000541777.2_Silent_p.I338I|ZNF83_ENST00000391789.4_Silent_p.I310I|ZNF83_ENST00000301096.3_Silent_p.I338I|ZNF83_ENST00000536937.1_Silent_p.I338I|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000601257.1_Intron	p.I338I			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	3267	-			338					A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000597597.1	37	c.1014C>T	CCDS12854.1																																																																																				0.413	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		5	713	0	0	0	1	0	5	713				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977327	29977327	+	RNA	SNP	T	T	C	rs200662795		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:29977327T>C	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		GACAGCTGCCTTGTGTGGGAC	0.438																																						ENST00000376797.3																			0																																																			0							g.chr6:29977327T>C	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977327T>C						ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		5	278	0	0	0	1	0	5	278				
TBP	6908	broad.mit.edu	37	6	170871049	170871049	+	Silent	SNP	G	G	A	rs369312237|rs56241301		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:170871049G>A	ENST00000392092.2	+	3	504	c.225G>A	c.(223-225)caG>caA	p.Q75Q	TBP_ENST00000540980.1_Silent_p.Q55Q|TBP_ENST00000230354.6_Silent_p.Q75Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	75	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q75Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		aacagcaacagcagcagcagc	0.567																																						ENST00000392092.2																			2	Substitution - coding silent(2)	p.Q75Q(2)	lung(2)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(223-225)caG>caA		TATA box binding protein							15.0	19.0	18.0					6																	170871049		1966	3856	5822	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871049G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.225G>A	6.37:g.170871049G>A						TBP_ENST00000230354.6_Silent_p.Q75Q|TBP_ENST00000540980.1_Silent_p.Q55Q	p.Q75Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	504	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	75			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.225G>A	CCDS5315.1																																																																																				0.567	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		8	318	0	0	0	1	0	8	318				
NSD1	64324	broad.mit.edu	37	5	176687001	176687001	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:176687001C>T	ENST00000439151.2	+	14	5023	c.4978C>T	c.(4978-4980)Cgc>Tgc	p.R1660C	NSD1_ENST00000347982.4_Missense_Mutation_p.R1391C|NSD1_ENST00000354179.4_Missense_Mutation_p.R1391C|NSD1_ENST00000361032.4_Missense_Mutation_p.R1557C	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1660					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R1660C(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCGGTTGATGCGCTGTGTCCG	0.403			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		2	Substitution - Missense(2)	p.R1660C(2)	prostate(2)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(4978-4980)Cgc>Tgc		nuclear receptor binding SET domain protein 1							125.0	116.0	119.0					5																	176687001		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176687001C>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4978C>T	5.37:g.176687001C>T	ENSP00000395929:p.Arg1660Cys	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Missense_Mutation_p.R1557C|NSD1_ENST00000354179.4_Missense_Mutation_p.R1391C|NSD1_ENST00000347982.4_Missense_Mutation_p.R1391C	p.R1660C	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	14	5023	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1660					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.4978C>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186012	0.78789	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96	5.49	4.62	0.57501	Zinc finger, PHD-type (1);	0.000000	0.64402	D	0.000003	D	0.97561	0.9201	M	0.77313	2.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	D	0.97715	1.0193	10	0.87932	D	0	.	9.6748	0.40034	0.1396:0.7892:0.0:0.0712	.	1391;1557;1660	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	C	1391;1660;1391;1557	ENSP00000346111:R1391C;ENSP00000395929:R1660C;ENSP00000343209:R1391C;ENSP00000354310:R1557C	ENSP00000343209:R1391C	R	+	1	0	NSD1	176619607	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.787000	0.62432	1.450000	0.47717	0.591000	0.81541	CGC		0.403	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		6	593	0	0	0	1	0	6	593				
CXADRP3	440224	broad.mit.edu	37	18	14478398	14478398	+	lincRNA	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr18:14478398G>A	ENST00000581457.1	-	0	1510					NR_024076.1				coxsackie virus and adenovirus receptor pseudogene 3																		TTCTGGCAGCGGACGTACGGC	0.453																																						ENST00000581457.1																			0																																																			0							g.chr18:14478398G>A			18p11.21	2013-09-19			ENSG00000265766	ENSG00000265766			33974	pseudogene	pseudogene							Standard	NR_024076		Approved		uc010xai.2		OTTHUMG00000178700		18.37:g.14478398G>A								NR_024076.1						0	1510	-									RNA	SNP	ENST00000581457.1	37																																																																																						0.453	CXADRP3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000443008.1	NR_024076		9	70	0	0	0	1	0	9	70				
PRPF8	10594	broad.mit.edu	37	17	1585571	1585571	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:1585571G>A	ENST00000572621.1	-	3	551	c.286C>T	c.(286-288)Ccc>Tcc	p.P96S	PRPF8_ENST00000304992.6_Missense_Mutation_p.P96S			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	96					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ACTGCGTGGGGCATGTACTTT	0.507																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(286-288)Ccc>Tcc		pre-mRNA processing factor 8							174.0	168.0	170.0					17																	1585571		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1585571G>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.286C>T	17.37:g.1585571G>A	ENSP00000460348:p.Pro96Ser					PRPF8_ENST00000304992.6_Missense_Mutation_p.P96S	p.P96S			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	3	551	-			96					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.286C>T	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656010	0.88056	.	.	ENSG00000174231	ENST00000304992	T	0.67698	-0.28	5.6	5.6	0.85130	Pre-mRNA-processing-splicing factor 8 (2);	0.000000	0.85682	D	0.000000	D	0.86859	0.6034	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89501	0.3764	10	0.87932	D	0	.	19.616	0.95634	0.0:0.0:1.0:0.0	.	96	Q6P2Q9	PRP8_HUMAN	S	96	ENSP00000304350:P96S	ENSP00000304350:P96S	P	-	1	0	PRPF8	1532321	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	9.314000	0.96306	2.642000	0.89623	0.555000	0.69702	CCC		0.507	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			5	461	0	0	0	1	0	5	461				
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	lincRNA	SNP	C	C	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557																																						ENST00000565869.1																			0																																																			0							g.chr15:78211517C>G																													15.37:g.78211517C>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.557	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			7	906	0	0	0	1	0	7	906				
CCNA1	8900	broad.mit.edu	37	13	37007204	37007204	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr13:37007204G>A	ENST00000255465.4	+	2	407	c.143G>A	c.(142-144)aGc>aAc	p.S48N	CCNA1_ENST00000418263.1_Missense_Mutation_p.S47N|CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000440264.1_Missense_Mutation_p.S4N|CCNA1_ENST00000449823.1_Missense_Mutation_p.S4N			P78396	CCNA1_HUMAN	cyclin A1	48					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		ATGCACTGCAGCAACCCCAAG	0.602																																						ENST00000418263.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35						c.(139-141)aGc>aAc		cyclin A1							116.0	115.0	115.0					13																	37007204		2203	4300	6503	SO:0001583	missense	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37007204G>A	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.143G>A	13.37:g.37007204G>A	ENSP00000255465:p.Ser48Asn					CCNA1_ENST00000440264.1_Missense_Mutation_p.S4N|CCNA1_ENST00000449823.1_Missense_Mutation_p.S4N|CCNA1_ENST00000255465.4_Missense_Mutation_p.S48N|CCNA1_ENST00000463403.1_3'UTR	p.S47N	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	2	490	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	48	EAMHC -> SS (in Ref. 2; AAV38384).				B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	ENST00000255465.4	37	c.140G>A	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311316	0.40895	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.17370	2.43;2.43;2.28;2.29	4.63	2.86	0.33363	.	0.954771	0.08588	N	0.923463	T	0.18173	0.0436	L	0.54323	1.7	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.10450	0.005;0.002	T	0.27839	-1.0062	10	0.40728	T	0.16	.	7.931	0.29901	0.1899:0.0:0.8101:0.0	.	47;48	P78396-2;P78396	.;CCNA1_HUMAN	N	4;4;47;48	ENSP00000400666:S4N;ENSP00000409873:S4N;ENSP00000396479:S47N;ENSP00000255465:S48N	ENSP00000255465:S48N	S	+	2	0	CCNA1	35905204	0.291000	0.24352	0.014000	0.15608	0.121000	0.20230	0.587000	0.23909	0.466000	0.27193	0.555000	0.69702	AGC		0.602	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		11	516	0	0	0	1	0	11	516				
GLI2	2736	broad.mit.edu	37	2	121736099	121736099	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:121736099G>A	ENST00000452319.1	+	10	1518	c.1458G>A	c.(1456-1458)gcG>gcA	p.A486A	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Silent_p.A486A|GLI2_ENST00000314490.11_Silent_p.A158A					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCTTCAAGGCGCAGTACATGC	0.642																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1456-1458)gcG>gcA		GLI family zinc finger 2							102.0	89.0	93.0					2																	121736099		2203	4300	6503	SO:0001819	synonymous_variant	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121736099G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1458G>A	2.37:g.121736099G>A						GLI2_ENST00000314490.11_Silent_p.A158A|GLI2_ENST00000361492.4_Silent_p.A486A|GLI2_ENST00000435313.2_3'UTR	p.A486A			P10070	GLI2_HUMAN			10	1518	+	Renal(3;0.0496)	Prostate(154;0.0623)	486						Silent	SNP	ENST00000452319.1	37	c.1458G>A	CCDS33283.1																																																																																				0.642	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		5	585	0	0	0	1	0	5	585				
LOC645752	645752	broad.mit.edu	37	15	78211512	78211512	+	lincRNA	SNP	C	C	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr15:78211512C>A	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							GTTCCTTGCTCAGGACACTCA	0.557																																						ENST00000565869.1																			0																																																			0							g.chr15:78211512C>A																													15.37:g.78211512C>A						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.557	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			7	903	1	0	9.31168e-06	1	9.56082e-06	7	903				
MUC17	140453	broad.mit.edu	37	7	100681963	100681963	+	Silent	SNP	T	T	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:100681963T>C	ENST00000306151.4	+	3	7330	c.7266T>C	c.(7264-7266)gtT>gtC	p.V2422V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2422	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAACTCCTGTTGACACCAGCA	0.512																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(7264-7266)gtT>gtC		mucin 17, cell surface associated							373.0	361.0	365.0					7																	100681963		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681963T>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7266T>C	7.37:g.100681963T>C							p.V2422V	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	7330	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2422			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.7266T>C	CCDS34711.1																																																																																				0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		12	2381	0	0	0	1	0	12	2381				
BMS1P20	96610	broad.mit.edu	37	22	22661312	22661312	+	RNA	SNP	T	T	C	rs3855711		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:22661312T>C	ENST00000426066.1	+	0	360					NR_027293.1				BMS1 pseudogene 20																		TGAATTTGTGTAGAACTTTGA	0.473																																						ENST00000426066.1																			0																																																			0							g.chr22:22661312T>C			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661312T>C								NR_027293.1						0	360	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.473	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			7	318	0	0	0	1	0	7	318				
HRNR	388697	broad.mit.edu	37	1	152187485	152187485	+	Missense_Mutation	SNP	C	C	T	rs571489109	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:152187485C>T	ENST00000368801.2	-	3	6695	c.6620G>A	c.(6619-6621)cGt>cAt	p.R2207H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2207					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGGAAGAACGACCTGAGCC	0.597													c|||	3	0.000599042	0.0008	0.0014	5008	,	,		38924	0.0		0.0	False		,,,				2504	0.001					ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(6619-6621)cGt>cAt		hornerin							24.0	37.0	32.0					1																	152187485		2153	4277	6430	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187485C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6620G>A	1.37:g.152187485C>T	ENSP00000357791:p.Arg2207His					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R2207H	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6695	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2207					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.6620G>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	7.903	0.734868	0.15574	.	.	ENSG00000197915	ENST00000368801	T	0.17854	2.25	3.18	-2.56	0.06268	.	.	.	.	.	T	0.03178	0.0093	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.44159	-0.9346	9	0.45353	T	0.12	.	4.6072	0.12383	0.0:0.3414:0.1691:0.4895	.	2207	Q86YZ3	HORN_HUMAN	H	2207	ENSP00000357791:R2207H	ENSP00000357791:R2207H	R	-	2	0	HRNR	150454109	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.838000	0.04372	-0.349000	0.08274	-0.506000	0.04501	CGT		0.597	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		27	2365	0	0	0	1	0	27	2365				
SDHAP1	255812	broad.mit.edu	37	3	195690149	195690149	+	RNA	SNP	A	A	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:195690149A>G	ENST00000427841.1	-	0	2325					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		TGACACATGCATGAGCTATTA	0.498																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195690149A>G	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195690149A>G								NR_003264.2						0	2325	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.498	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			14	51	0	0	0	1	0	14	51				
ATP2A2	488	broad.mit.edu	37	12	110778541	110778541	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:110778541C>T	ENST00000539276.2	+	14	1948	c.1839C>T	c.(1837-1839)tgC>tgT	p.C613C	ATP2A2_ENST00000395494.2_Silent_p.C586C|ATP2A2_ENST00000308664.6_Silent_p.C613C			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	613					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGAAGCTGTGCCGGCAAGCAG	0.572																																						ENST00000395494.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38	GRCh37	CM014166	ATP2A2	M		c.(1756-1758)tgC>tgT		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							97.0	95.0	96.0					12																	110778541		2203	4300	6503	SO:0001819	synonymous_variant	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110778541C>T		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.1839C>T	12.37:g.110778541C>T						ATP2A2_ENST00000539276.2_Silent_p.C613C|ATP2A2_ENST00000308664.6_Silent_p.C613C	p.C586C			P16615	AT2A2_HUMAN			13	2321	+			613			Interacts with HAX1.		A6NDN7|B4DF05|P16614|Q86VJ2	Silent	SNP	ENST00000539276.2	37	c.1758C>T	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	C	9.993	1.231362	0.22626	.	.	ENSG00000174437	ENST00000548169	.	.	.	5.93	-0.83	0.10792	.	.	.	.	.	T	0.63954	0.2555	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61178	-0.7115	4	.	.	.	.	12.8976	0.58108	0.0:0.5245:0.0:0.4755	.	.	.	.	S	504	.	.	P	+	1	0	ATP2A2	109262924	0.928000	0.31464	0.994000	0.49952	0.973000	0.67179	0.080000	0.14802	-0.056000	0.13221	-0.126000	0.14955	CCG		0.572	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		5	553	0	0	0	1	0	5	553				
DNAJC5B	85479	broad.mit.edu	37	8	66988979	66988979	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:66988979C>T	ENST00000276570.5	+	4	491	c.204C>T	c.(202-204)caC>caT	p.H68H	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	68	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					membrane (GO:0016020)		p.H68H(1)		endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			ACAACGCCCACGCAATACTTA	0.428																																						ENST00000276570.5																			1	Substitution - coding silent(1)	p.H68H(1)	large_intestine(1)	endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20						c.(202-204)caC>caT		DnaJ (Hsp40) homolog, subfamily C, member 5 beta							169.0	151.0	157.0					8																	66988979		2203	4300	6503	SO:0001819	synonymous_variant	85479				protein folding	membrane	heat shock protein binding|unfolded protein binding	g.chr8:66988979C>T	AF368276	CCDS6183.1	8q13.1	2012-10-02			ENSG00000147570	ENSG00000147570		"""Heat shock proteins / DNAJ (HSP40)"""	24138	protein-coding gene	gene with protein product		613945				12477932	Standard	NM_033105		Approved	MGC26226, CSP-beta	uc003xvs.1	Q9UF47	OTTHUMG00000164470	ENST00000276570.5:c.204C>T	8.37:g.66988979C>T						DNAJC5B_ENST00000519330.1_3'UTR	p.H68H	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)		4	491	+		Lung NSC(129;0.114)|all_lung(136;0.188)	68			J.		Q969Y8	Silent	SNP	ENST00000276570.5	37	c.204C>T	CCDS6183.1																																																																																				0.428	DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378915.1	NM_033105		7	710	0	0	0	1	0	7	710				
FRG1B	284802	broad.mit.edu	37	20	29628299	29628299	+	Missense_Mutation	SNP	A	A	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr20:29628299A>G	ENST00000278882.3	+	6	681	c.301A>G	c.(301-303)Agt>Ggt	p.S101G	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGAAGCAAAAAGTAAAACAGC	0.363																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)Agt>Ggt																																						SO:0001583	missense	0							g.chr20:29628299A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.301A>G	20.37:g.29628299A>G	ENSP00000278882:p.Ser101Gly					FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G	p.S101G							6	681	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.301A>G		.	.	.	.	.	.	.	.	.	.	a	16.61	3.170807	0.57584	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50001	0.76	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	D	0.000001	T	0.38719	0.1051	.	.	.	0.42178	D	0.991671	B;P	0.36483	0.147;0.555	B;B	0.37731	0.138;0.257	T	0.38178	-0.9673	9	0.62326	D	0.03	.	8.0833	0.30758	1.0:0.0:0.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	G	101;106;101	ENSP00000408863:S106G	ENSP00000278882:S101G	S	+	1	0	FRG1B	28241960	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.085000	0.89518	1.208000	0.43306	0.347000	0.21830	AGT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		9	485	0	0	0	1	0	9	485				
ANXA1	301	broad.mit.edu	37	9	75775738	75775738	+	Missense_Mutation	SNP	A	A	T	rs111698970		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:75775738A>T	ENST00000376911.1	+	5	1286	c.404A>T	c.(403-405)gAt>gTt	p.D135V	ANXA1_ENST00000257497.6_Missense_Mutation_p.D135V			P04083	ANXA1_HUMAN	annexin A1	135					alpha-beta T cell differentiation (GO:0046632)|arachidonic acid secretion (GO:0050482)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hydrogen peroxide (GO:0070301)|endocrine pancreas development (GO:0031018)|estrous cycle phase (GO:0060206)|gliogenesis (GO:0042063)|hepatocyte differentiation (GO:0070365)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|keratinocyte differentiation (GO:0030216)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|neutrophil clearance (GO:0097350)|neutrophil homeostasis (GO:0001780)|peptide cross-linking (GO:0018149)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of neutrophil apoptotic process (GO:0033031)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of vesicle fusion (GO:0031340)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to interleukin-1 (GO:0070555)|response to peptide hormone (GO:0043434)|response to X-ray (GO:0010165)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cilium (GO:0005929)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)|phospholipid binding (GO:0005543)|protein binding, bridging (GO:0030674)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Amcinonide(DB00288)|Dexamethasone(DB01234)|Hydrocortisone(DB00741)	ACTGATGAAGATACTCTAATT	0.358																																						ENST00000376911.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8						c.(403-405)gAt>gTt		annexin A1	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)						155.0	164.0	161.0					9																	75775738		2203	4299	6502	SO:0001583	missense	301				alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity	g.chr9:75775738A>T	X05908	CCDS6645.1	9q21.13	2013-02-25			ENSG00000135046	ENSG00000135046		"""Annexins"", ""Endogenous ligands"""	533	protein-coding gene	gene with protein product		151690		ANX1, LPC1		2936963	Standard	NM_000700		Approved		uc004ajf.1	P04083	OTTHUMG00000020016	ENST00000376911.1:c.404A>T	9.37:g.75775738A>T	ENSP00000366109:p.Asp135Val					ANXA1_ENST00000257497.6_Missense_Mutation_p.D135V	p.D135V			P04083	ANXA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	5	1286	+		all_epithelial(88;2.54e-11)	135						Missense_Mutation	SNP	ENST00000376911.1	37	c.404A>T	CCDS6645.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.544955	0.86022	.	.	ENSG00000135046	ENST00000257497;ENST00000456643;ENST00000376911	T;T;T	0.03689	3.84;3.84;3.84	5.86	5.86	0.93980	Annexin repeat, conserved site (1);	0.087076	0.85682	D	0.000000	T	0.17323	0.0416	M	0.72353	2.195	0.80722	D	1	D	0.53885	0.963	D	0.69824	0.966	T	0.00150	-1.1986	10	0.44086	T	0.13	.	16.2565	0.82519	1.0:0.0:0.0:0.0	.	135	P04083	ANXA1_HUMAN	V	135;146;135	ENSP00000257497:D135V;ENSP00000412489:D146V;ENSP00000366109:D135V	ENSP00000257497:D135V	D	+	2	0	ANXA1	74965558	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	8.466000	0.90387	2.235000	0.73313	0.533000	0.62120	GAT		0.358	ANXA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052665.1	NM_000700		135	624	0	0	0	1	0	135	624				
PCDHA12	56137	broad.mit.edu	37	5	140257259	140257259	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:140257259G>A	ENST00000398631.2	+	1	2202	c.2202G>A	c.(2200-2202)ccG>ccA	p.P734P	PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	734	5 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCGCGCCGGGCAAGCCCA	0.682																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(2200-2202)ccG>ccA									28.0	28.0	28.0					5																	140257259		2201	4300	6501	SO:0001819	synonymous_variant	0							g.chr5:140257259G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.2202G>A	5.37:g.140257259G>A						PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron	p.P734P	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2202	+								O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.2202G>A	CCDS47285.1																																																																																				0.682	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		54	177	0	0	0	1	0	54	177				
RRAGD	58528	broad.mit.edu	37	6	90087442	90087442	+	Missense_Mutation	SNP	C	C	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:90087442C>G	ENST00000369415.4	-	5	1126	c.850G>C	c.(850-852)Gag>Cag	p.E284Q	RRAGD_ENST00000359203.3_Missense_Mutation_p.E133Q|RRAGD_ENST00000492783.1_5'UTR	NM_021244.4	NP_067067.1			Ras-related GTP binding D											breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		CAGCAGAGCTCATAGGTTTGC	0.353																																						ENST00000369415.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15						c.(850-852)Gag>Cag		Ras-related GTP binding D							140.0	134.0	136.0					6																	90087442		2203	4300	6503	SO:0001583	missense	58528				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity	g.chr6:90087442C>G	AF272036	CCDS5022.1	6q15-q16	2008-02-05			ENSG00000025039	ENSG00000025039			19903	protein-coding gene	gene with protein product		608268				11073942	Standard	NM_021244		Approved	DKFZP761H171, bA11D8.2.1	uc003pnd.4	Q9NQL2	OTTHUMG00000015200	ENST00000369415.4:c.850G>C	6.37:g.90087442C>G	ENSP00000358423:p.Glu284Gln					RRAGD_ENST00000359203.2_Missense_Mutation_p.E133Q|RRAGD_ENST00000492783.1_5'UTR	p.E284Q	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0144)	5	1126	-		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)	284						Missense_Mutation	SNP	ENST00000369415.4	37	c.850G>C	CCDS5022.1	.	.	.	.	.	.	.	.	.	.	C	31	5.070456	0.93950	.	.	ENSG00000025039	ENST00000369415;ENST00000359203	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.83885	0.5351	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86571	0.1847	9	0.66056	D	0.02	-13.7325	19.2342	0.93851	0.0:1.0:0.0:0.0	.	284	Q9NQL2	RRAGD_HUMAN	Q	284;133	.	ENSP00000352131:E133Q	E	-	1	0	RRAGD	90144161	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.771000	0.85420	2.553000	0.86117	0.462000	0.41574	GAG		0.353	RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041484.1	NM_021244		62	347	0	0	0	1	0	62	347				
PCDH17	27253	broad.mit.edu	37	13	58208306	58208306	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr13:58208306C>T	ENST00000377918.3	+	1	1652	c.1626C>T	c.(1624-1626)ttC>ttT	p.F542F		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	542	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCTTTAACTTCGAGCAGACCA	0.582																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(1624-1626)ttC>ttT		protocadherin 17							48.0	47.0	47.0					13																	58208306		2203	4300	6503	SO:0001819	synonymous_variant	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208306C>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1626C>T	13.37:g.58208306C>T							p.F542F	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1652	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	542			Cadherin 5.		A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	c.1626C>T	CCDS31986.1																																																																																				0.582	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		10	309	0	0	0	1	0	10	309				
GRK4	2868	broad.mit.edu	37	4	3015458	3015458	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:3015458G>A	ENST00000398052.4	+	8	987	c.644G>A	c.(643-645)tGc>tAc	p.C215Y	GRK4_ENST00000398051.4_Missense_Mutation_p.C183Y|GRK4_ENST00000345167.6_Missense_Mutation_p.C183Y|GRK4_ENST00000504933.1_Missense_Mutation_p.C215Y	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	215	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATGTATGCCTGCAAAAAGCTA	0.393																																						ENST00000398052.4																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(643-645)tGc>tAc		G protein-coupled receptor kinase 4							141.0	151.0	148.0					4																	3015458		2203	4300	6503	SO:0001583	missense	2868					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr4:3015458G>A		CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"""G protein-coupled receptor kinase 2-like (Drosophila)"""	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.644G>A	4.37:g.3015458G>A	ENSP00000381129:p.Cys215Tyr					GRK4_ENST00000504933.1_Missense_Mutation_p.C215Y|GRK4_ENST00000398051.4_Missense_Mutation_p.C183Y|GRK4_ENST00000345167.6_Missense_Mutation_p.C183Y	p.C215Y	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	8	987	+			215			Protein kinase.		O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Missense_Mutation	SNP	ENST00000398052.4	37	c.644G>A	CCDS33946.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407065	0.83230	.	.	ENSG00000125388	ENST00000398051;ENST00000398052;ENST00000345167;ENST00000504933	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	4.67	4.67	0.58626	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	T	0.45935	0.1367	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.67145	0.991;0.969;0.988;0.996	P;P;P;P	0.58820	0.734;0.846;0.734;0.827	T	0.51100	-0.8748	10	0.87932	D	0	-11.636	16.619	0.84925	0.0:0.0:1.0:0.0	.	183;183;215;215	P32298-3;P32298-2;P32298-4;P32298	.;.;.;GRK4_HUMAN	Y	183;215;183;215	ENSP00000381128:C183Y;ENSP00000381129:C215Y;ENSP00000264764:C183Y;ENSP00000427445:C215Y	ENSP00000264764:C183Y	C	+	2	0	GRK4	2985256	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.500000	0.97977	2.151000	0.67156	0.585000	0.79938	TGC		0.393	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2	NM_005307		7	922	0	0	0	1	0	7	922				
SMARCA2	6595	broad.mit.edu	37	9	2039779	2039779	+	Silent	SNP	G	G	A	rs376509101|rs62639301	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:2039779G>A	ENST00000382203.1	+	4	878	c.669G>A	c.(667-669)caG>caA	p.Q223Q	SMARCA2_ENST00000382194.1_Silent_p.Q223Q|SMARCA2_ENST00000357248.2_Silent_p.Q223Q|SMARCA2_ENST00000349721.2_Silent_p.Q223Q|SMARCA2_ENST00000491574.1_3'UTR|RP11-264I13.2_ENST00000426860.1_RNA			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	223	Poly-Gln.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcaacagcagcagcagc	0.642																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(667-669)caG>caA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							10.0	13.0	12.0					9																	2039779		2187	4260	6447	SO:0001819	synonymous_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2039779G>A	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.669G>A	9.37:g.2039779G>A						SMARCA2_ENST00000382194.1_Silent_p.Q223Q|SMARCA2_ENST00000357248.2_Silent_p.Q223Q|SMARCA2_ENST00000349721.2_Silent_p.Q223Q|SMARCA2_ENST00000491574.1_3'UTR	p.Q223Q			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	4	878	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	223			Poly-Gln.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	c.669G>A	CCDS34977.1																																																																																				0.642	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		4	130	0	0	0	1	0	4	130				
ZSCAN5A	79149	broad.mit.edu	37	19	56733491	56733491	+	Missense_Mutation	SNP	T	T	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:56733491T>C	ENST00000587340.1	-	7	1639	c.944A>G	c.(943-945)gAa>gGa	p.E315G	ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.E198G|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.E169G|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.E314G|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.E315G			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	315					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGGTGTGGCTTCTCCTTGAGG	0.557																																						ENST00000587340.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(943-945)gAa>gGa		zinc finger and SCAN domain containing 5A							77.0	81.0	80.0					19																	56733491		2203	4298	6501	SO:0001583	missense	79149				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56733491T>C	AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"""-"", ""Zinc fingers, C2H2-type"""	23710	protein-coding gene	gene with protein product			"""zinc finger protein 495"", ""zinc finger and SCAN domain containing 5"""	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.944A>G	19.37:g.56733491T>C	ENSP00000467631:p.Glu315Gly					ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.E198G|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.E169G|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.E314G|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.E315G	p.E315G			Q9BUG6	ZSA5A_HUMAN			7	1639	-			315					B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	ENST00000587340.1	37	c.944A>G	CCDS12941.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.057961	0.00390	.	.	ENSG00000131848	ENST00000391713;ENST00000254165	T;T	0.06687	3.29;3.27	2.27	-4.53	0.03462	.	.	.	.	.	T	0.01870	0.0059	N	0.00859	-1.14	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40850	-0.9541	9	0.28530	T	0.3	.	2.0171	0.03500	0.1387:0.2122:0.138:0.5111	.	198;315	B4DX98;Q9BUG6	.;ZSA5A_HUMAN	G	315;198	ENSP00000375593:E315G;ENSP00000254165:E198G	ENSP00000254165:E198G	E	-	2	0	ZSCAN5A	61425303	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.774000	0.01784	-1.795000	0.01255	-1.066000	0.02275	GAA		0.557	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		8	567	0	0	0	1	0	8	567				
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q					mastermind-like 3 (Drosophila)									p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542																																						ENST00000398940.1																			2	Substitution - coding silent(2)	p.Q497Q(2)	prostate(2)	breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.e1+1		mastermind-like 3 (Drosophila)							13.0	19.0	17.0					4																	140811099		2117	4226	6343	SO:0001630	splice_region_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811099C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000398940.1:c.108+1G>A	4.37:g.140811099C>T						MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q	p.Q36_splice			Q96JK9	MAML3_HUMAN			1	107	-	all_hematologic(180;0.162)		497						Splice_Site	SNP	ENST00000398940.1	37	c.108_splice																																																																																					0.542	MAML3-202	KNOWN	basic	protein_coding	protein_coding			Silent	8	268	0	0	0	1	0	8	268				
CDC6	990	broad.mit.edu	37	17	38451657	38451657	+	Missense_Mutation	SNP	G	G	A	rs4135016	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:38451657G>A	ENST00000209728.4	+	8	1604	c.1133G>A	c.(1132-1134)cGc>cAc	p.R378H		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	378			R -> H (in dbSNP:rs4135016). {ECO:0000269|Ref.3}.		DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						TTCTGTGCCCGCAAAGTCTCT	0.403													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17068	0.0		0.0	False		,,,				2504	0.0					ENST00000209728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						c.(1132-1134)cGc>cAc		cell division cycle 6		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	202.0	186.0	191.0		1133	6.0	1.0	17	dbSNP_108	191	0,8600		0,0,4300	yes	missense	CDC6	NM_001254.3	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	378/561	38451657	2,13004	2203	4300	6503	SO:0001583	missense	990				cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity	g.chr17:38451657G>A	U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"""CDC6 (cell division cycle 6, S. cerevisiae) homolog"", ""CDC6 cell division cycle 6 homolog (S. cerevisiae)"", ""cell division cycle 6 homolog (S. cerevisiae)"""	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.1133G>A	17.37:g.38451657G>A	ENSP00000209728:p.Arg378His						p.R378H	NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN			8	1604	+			378		R -> H (in dbSNP:rs4135016).			Q8TB30	Missense_Mutation	SNP	ENST00000209728.4	37	c.1133G>A	CCDS11365.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	32	5.111037	0.94339	4.54E-4	0.0	ENSG00000094804	ENST00000209728	T	0.57907	0.37	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.81847	0.4909	H	0.95504	3.68	0.58432	D	0.999991	D	0.89917	1.0	D	0.77004	0.989	D	0.86213	0.1626	10	0.72032	D	0.01	-35.3611	19.185	0.93639	0.0:0.0:1.0:0.0	rs4135016;rs4135016	378	Q99741	CDC6_HUMAN	H	378	ENSP00000209728:R378H	ENSP00000209728:R378H	R	+	2	0	CDC6	35705183	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.582000	0.90791	2.835000	0.97688	0.591000	0.81541	CGC		0.403	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1			6	806	0	0	0	1	0	6	806				
PRRC2A	7916	broad.mit.edu	37	6	31604645	31604645	+	Missense_Mutation	SNP	C	C	T	rs373808174		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:31604645C>T	ENST00000376033.2	+	28	6304	c.6070C>T	c.(6070-6072)Cgg>Tgg	p.R2024W	PRRC2A_ENST00000376007.4_Missense_Mutation_p.R2024W	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	2024	3 X 50 AA type C repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R2024W(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCTGGCTGTGCGGCCCCCACC	0.672																																						ENST00000376033.2																			1	Substitution - Missense(1)	p.R2024W(1)	lung(1)	breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(6070-6072)Cgg>Tgg		proline-rich coiled-coil 2A		C	TRP/ARG,TRP/ARG	0,3014		0,0,1507	78.0	103.0	94.0		6070,6070	5.5	1.0	6		94	1,5415		0,1,2707	no	missense,missense	PRRC2A	NM_004638.3,NM_080686.2	101,101	0,1,4214	TT,TC,CC		0.0185,0.0,0.0119	probably-damaging,probably-damaging	2024/2158,2024/2158	31604645	1,8429	1507	2708	4215	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31604645C>T	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.6070C>T	6.37:g.31604645C>T	ENSP00000365201:p.Arg2024Trp					PRRC2A_ENST00000376007.4_Missense_Mutation_p.R2024W	p.R2024W	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			28	6304	+			2024			3 X 50 AA type C repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.6070C>T	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610312	0.28712	0.0	1.85E-4	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01998	4.51;4.51	5.48	5.48	0.80851	.	0.127126	0.36519	N	0.002556	T	0.02610	0.0079	N	0.19112	0.55	0.36539	D	0.87119	D	0.76494	0.999	D	0.64877	0.93	T	0.54906	-0.8223	10	0.87932	D	0	-3.4827	11.736	0.51765	0.1756:0.8244:0.0:0.0	.	2024	P48634	PRC2A_HUMAN	W	2016;2005;2024;2024;1249	ENSP00000365175:R2024W;ENSP00000365201:R2024W	ENSP00000365175:R2024W	R	+	1	2	PRRC2A	31712624	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.801000	0.27055	2.852000	0.98041	0.643000	0.83706	CGG		0.672	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		7	963	0	0	0	1	0	7	963				
IGHA2	3494	broad.mit.edu	37	14	106053517	106053517	+	RNA	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr14:106053517G>A	ENST00000390539.2	-	0	779				AL928742.1_ENST00000581377.1_RNA			P01877	IGHA2_HUMAN	immunoglobulin heavy constant alpha 2 (A2m marker)						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										GGTACTTCTCGCGGGGCAGCT	0.647																																						ENST00000390539.2																			0																				22.0	14.0	17.0					14																	106053517		2086	4124	6210			0							g.chr14:106053517G>A	J00221		14q32.33	2012-10-02			ENSG00000211890	ENSG00000211890		"""Immunoglobulins / IGH locus"""	5479	other	immunoglobulin gene		147000					Standard	NG_001019		Approved			P01877	OTTHUMG00000152472		14.37:g.106053517G>A														0	779	-									RNA	SNP	ENST00000390539.2	37																																																																																						0.647	IGHA2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326338.1	NG_001019		19	107	0	0	0	1	0	19	107				
LOC101927648	101927648	broad.mit.edu	37	1	143403554	143403554	+	lincRNA	SNP	T	T	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:143403554T>G	ENST00000423249.1	-	0	59																											GGAACAGGATTTCTTTGGCCA	0.468																																						ENST00000423249.1																			0																																																			0							g.chr1:143403554T>G																													1.37:g.143403554T>G														0	59	-									RNA	SNP	ENST00000423249.1	37																																																																																						0.468	RP11-435B5.4-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037552.1			5	48	0	0	0	1	0	5	48				
CCDC88B	283234	broad.mit.edu	37	11	64120219	64120219	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:64120219C>T	ENST00000356786.5	+	20	3404	c.3360C>T	c.(3358-3360)caC>caT	p.H1120H	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_Silent_p.H272H|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1120						membrane (GO:0016020)		p.H1120H(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATCCCAGGCACGAGCAGCTGC	0.677																																						ENST00000356786.5																			1	Substitution - coding silent(1)	p.H1120H(1)	lung(1)	endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(3358-3360)caC>caT		coiled-coil domain containing 88B							27.0	31.0	30.0					11																	64120219		2201	4286	6487	SO:0001819	synonymous_variant	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64120219C>T	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.3360C>T	11.37:g.64120219C>T						CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Silent_p.H272H	p.H1120H	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			20	3404	+			1120					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	ENST00000356786.5	37	c.3360C>T	CCDS8072.2																																																																																				0.677	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		36	232	0	0	0	1	0	36	232				
ALX3	257	broad.mit.edu	37	1	110607330	110607330	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:110607330G>A	ENST00000369792.4	-	2	560	c.473C>T	c.(472-474)aCg>aTg	p.T158M	RP4-773N10.4_ENST00000554749.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	158					embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|pattern specification process (GO:0007389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCTGAAGGTCGTGCGGTTACG	0.597																																						ENST00000369792.4																			0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(472-474)aCg>aTg		ALX homeobox 3							111.0	108.0	109.0					1																	110607330		2203	4300	6503	SO:0001583	missense	257					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:110607330G>A	AF008203	CCDS819.1	1p13.3	2014-02-04	2008-11-04		ENSG00000156150	ENSG00000156150		"""Homeoboxes / PRD class"""	449	protein-coding gene	gene with protein product		606014	"""aristaless-like homeobox 3"", ""frontonasal dysplasia"""	FND		15226305, 11807986, 19409524	Standard	NM_006492		Approved		uc001dzb.3	O95076	OTTHUMG00000011650	ENST00000369792.4:c.473C>T	1.37:g.110607330G>A	ENSP00000358807:p.Thr158Met						p.T158M	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)	2	560	-		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	158					O95075|Q5T8M4	Missense_Mutation	SNP	ENST00000369792.4	37	c.473C>T	CCDS819.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087698	0.76642	.	.	ENSG00000156150	ENST00000369792	D	0.97352	-4.35	4.18	4.18	0.49190	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000001	D	0.98960	0.9646	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99316	1.0905	10	0.87932	D	0	.	14.3494	0.66691	0.0:0.0:1.0:0.0	.	158	O95076	ALX3_HUMAN	M	158	ENSP00000358807:T158M	ENSP00000358807:T158M	T	-	2	0	ALX3	110408853	1.000000	0.71417	0.907000	0.35723	0.987000	0.75469	9.813000	0.99286	2.022000	0.59522	0.462000	0.41574	ACG		0.597	ALX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032232.2	NM_006492		112	349	0	0	0	1	0	112	349				
D2HGDH	728294	broad.mit.edu	37	2	242695366	242695366	+	Missense_Mutation	SNP	G	G	A	rs371794611		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:242695366G>A	ENST00000321264.4	+	9	1452	c.1243G>A	c.(1243-1245)Gtg>Atg	p.V415M	D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Missense_Mutation_p.V281M|AC114730.7_ENST00000417267.1_RNA	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	415					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CTACGACATCGTGACTGACCT	0.687																																						ENST00000321264.4																			0				breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16						c.(1243-1245)Gtg>Atg		D-2-hydroxyglutarate dehydrogenase		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	102.0	83.0	89.0		1243	5.3	0.1	2		89	0,8592		0,0,4296	no	missense	D2HGDH	NM_152783.3	21	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	415/522	242695366	1,12997	2203	4296	6499	SO:0001583	missense	728294				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	g.chr2:242695366G>A	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.1243G>A	2.37:g.242695366G>A	ENSP00000315351:p.Val415Met					D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Missense_Mutation_p.V281M	p.V415M	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	9	1452	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	415					B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	ENST00000321264.4	37	c.1243G>A	CCDS33426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.80|17.80	3.477180|3.477180	0.63849|0.63849	2.27E-4|2.27E-4	0.0|0.0	ENSG00000180902|ENSG00000180902	ENST00000432449|ENST00000321264;ENST00000403782;ENST00000542211	.|D;D	.|0.85773	.|-2.03;-2.03	5.31|5.31	5.31|5.31	0.75309|0.75309	.|FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);	.|0.071537	.|0.56097	.|D	.|0.000031	D|D	0.93585|0.93585	0.7952|0.7952	M|M	0.87381|0.87381	2.88|2.88	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	D|D	0.94453|0.94453	0.7669|0.7669	6|10	0.49607|0.87932	T|D	0.09|0	-3.3567|-3.3567	18.9757|18.9757	0.92735|0.92735	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|415	.|Q8N465	.|D2HDH_HUMAN	H|M	168|415;281;35	.|ENSP00000315351:V415M;ENSP00000384723:V281M	ENSP00000383580:R319H|ENSP00000315351:V415M	R|V	+|+	2|1	0|0	D2HGDH|D2HGDH	242344039|242344039	1.000000|1.000000	0.71417|0.71417	0.088000|0.088000	0.20740|0.20740	0.088000|0.088000	0.18126|0.18126	8.597000|8.597000	0.90847|0.90847	2.485000|2.485000	0.83878|0.83878	0.467000|0.467000	0.42956|0.42956	CGT|GTG		0.687	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		81	407	0	0	0	1	0	81	407				
CACNG2	10369	broad.mit.edu	37	22	36960745	36960745	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:36960745G>A	ENST00000300105.6	-	4	1606	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	RP5-1119A7.17_ENST00000562756.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	209					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GCCGTGGCCCGCAGCTGTTTG	0.667																																						ENST00000300105.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(625-627)Cgg>Tgg		calcium channel, voltage-dependent, gamma subunit 2							86.0	102.0	96.0					22																	36960745		2203	4300	6503	SO:0001583	missense	10369				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr22:36960745G>A	AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"""Calcium channel subunits"""	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.625C>T	22.37:g.36960745G>A	ENSP00000300105:p.Arg209Trp						p.R209W	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN			4	1606	-			209					Q2M1M1|Q5TGT3|Q9UGZ7	Missense_Mutation	SNP	ENST00000300105.6	37	c.625C>T	CCDS13931.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119367	0.77323	.	.	ENSG00000166862	ENST00000300105	T	0.40756	1.02	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.64305	0.2586	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.66590	-0.5885	10	0.66056	D	0.02	-7.8981	14.4754	0.67541	0.0:0.0:0.8529:0.1471	.	209	Q9Y698	CCG2_HUMAN	W	209	ENSP00000300105:R209W	ENSP00000300105:R209W	R	-	1	2	CACNG2	35290691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.656000	0.90262	0.655000	0.94253	CGG		0.667	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2			68	1378	0	0	0	1	0	68	1378				
CDH2	1000	broad.mit.edu	37	18	25572669	25572669	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr18:25572669C>T	ENST00000269141.3	-	9	1717	c.1294G>A	c.(1294-1296)Gcc>Acc	p.A432T	CDH2_ENST00000399380.3_Missense_Mutation_p.A401T	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	432	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTCTGGATGGCGAACCGTCCA	0.532																																						ENST00000269141.3																			0				NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(1294-1296)Gcc>Acc		cadherin 2, type 1, N-cadherin (neuronal)							197.0	154.0	169.0					18																	25572669		2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25572669C>T	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1294G>A	18.37:g.25572669C>T	ENSP00000269141:p.Ala432Thr					CDH2_ENST00000399380.3_Missense_Mutation_p.A401T	p.A432T	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN			9	1717	-			432			Cadherin 3.		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.1294G>A	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	3.023	-0.201263	0.06219	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.49139	0.79;0.79	5.39	4.51	0.55191	Cadherin (4);Cadherin-like (1);	0.160521	0.56097	D	0.000022	T	0.25975	0.0633	N	0.13140	0.3	0.46222	D	0.998936	B;B	0.13594	0.001;0.008	B;B	0.11329	0.003;0.006	T	0.09122	-1.0689	10	0.08381	T	0.77	.	10.1311	0.42680	0.0:0.8447:0.0:0.1553	.	401;432	A8MWK3;P19022	.;CADH2_HUMAN	T	432;401	ENSP00000269141:A432T;ENSP00000382312:A401T	ENSP00000269141:A432T	A	-	1	0	CDH2	23826667	1.000000	0.71417	0.993000	0.49108	0.455000	0.32408	3.907000	0.56348	2.674000	0.91012	0.655000	0.94253	GCC		0.532	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		62	319	0	0	0	1	0	62	319				
TAS2R38	5726	broad.mit.edu	37	7	141673468	141673468	+	Missense_Mutation	SNP	G	G	A	rs377342463		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:141673468G>A	ENST00000547270.1	-	1	105	c.22C>T	c.(22-24)Cgc>Tgc	p.R8C		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	8					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GACACAGTGCGGATGCGAGTT	0.443																																						ENST00000547270.1																			0				NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21						c.(22-24)Cgc>Tgc		taste receptor, type 2, member 38		G	CYS/ARG	0,4406		0,0,2203	114.0	112.0	113.0		22	-9.6	0.0	7		113	1,8599	1.2+/-3.3	0,1,4299	no	missense	TAS2R38	NM_176817.4	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	8/334	141673468	1,13005	2203	4300	6503	SO:0001583	missense	5726				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:141673468G>A	AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	9584	protein-coding gene	gene with protein product		607751	"""phenylthiocarbamide tasting"""	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.22C>T	7.37:g.141673468G>A	ENSP00000448219:p.Arg8Cys						p.R8C	NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN			1	105	-	Melanoma(164;0.0171)		8					A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Missense_Mutation	SNP	ENST00000547270.1	37	c.22C>T	CCDS34765.1	.	.	.	.	.	.	.	.	.	.	G	3.866	-0.028883	0.07589	0.0	1.16E-4	ENSG00000257138	ENST00000547270	T	0.00816	5.66	5.1	-9.6	0.00553	.	4.375660	0.01228	N	0.008298	T	0.00412	0.0013	N	0.03608	-0.345	0.09310	N	1	B	0.22276	0.067	B	0.04013	0.001	T	0.51220	-0.8733	10	0.15066	T	0.55	.	1.5776	0.02627	0.1848:0.4484:0.1652:0.2016	.	8	P59533	T2R38_HUMAN	C	8	ENSP00000448219:R8C	ENSP00000331291:R8C	R	-	1	0	TAS2R38	141319937	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.787000	0.04618	-1.782000	0.01275	-0.294000	0.09567	CGC		0.443	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817		59	518	0	0	0	1	0	59	518				
OR5T3	390154	broad.mit.edu	37	11	56020051	56020051	+	Missense_Mutation	SNP	G	G	A	rs543165988		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:56020051G>A	ENST00000303059.3	+	1	376	c.376G>A	c.(376-378)Gga>Aga	p.G126R		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTCATTTATCGGATGTGCAAC	0.363													g|||	1	0.000199681	0.0008	0.0	5008	,	,		22195	0.0		0.0	False		,,,				2504	0.0					ENST00000303059.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39						c.(376-378)Gga>Aga		olfactory receptor, family 5, subfamily T, member 3							172.0	171.0	171.0					11																	56020051		2201	4295	6496	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020051G>A	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.376G>A	11.37:g.56020051G>A	ENSP00000305403:p.Gly126Arg						p.G126R	NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN			1	376	+	Esophageal squamous(21;0.00448)		126					Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.376G>A	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	g	10.80	1.452159	0.26074	.	.	ENSG00000172489	ENST00000303059	T	0.09817	2.94	4.55	2.59	0.31030	GPCR, rhodopsin-like superfamily (1);	0.542212	0.15279	U	0.270784	T	0.24812	0.0602	M	0.69358	2.11	0.09310	N	1	D	0.62365	0.991	P	0.58660	0.843	T	0.04216	-1.0968	10	0.87932	D	0	.	11.1733	0.48584	0.0:0.1392:0.716:0.1448	.	126	Q8NGG3	OR5T3_HUMAN	R	126	ENSP00000305403:G126R	ENSP00000305403:G126R	G	+	1	0	OR5T3	55776627	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	0.613000	0.24299	0.603000	0.29913	-0.189000	0.12847	GGA		0.363	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		5	777	0	0	0	1	0	5	777				
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C	rs200733272|rs371950649	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692													g|||	17	0.00339457	0.003	0.0043	5008	,	,		11369	0.004		0.002	False		,,,				2504	0.0041					ENST00000270631.1																			2	Substitution - Missense(2)	p.L22V(2)	endometrium(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6						c.(64-66)Ctg>Gtg		parathyroid hormone 2			VAL/LEU	12,4376		0,12,2182	12.0	16.0	14.0		64	3.3	0.0	19		14	11,8561		0,11,4275	no	missense	PTH2	NM_178449.3	32	0,23,6457	CC,CG,GG		0.1283,0.2735,0.1775	possibly-damaging	22/101	49926533	23,12937	2194	4286	6480	SO:0001583	missense	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49926533G>C	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64C>G	19.37:g.49926533G>C	ENSP00000270631:p.Leu22Val						p.L22V	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	1	165	-			22					Q96DJ4	Missense_Mutation	SNP	ENST00000270631.1	37	c.64C>G	CCDS12763.1	.	.	.	.	.	.	.	.	.	.	g	6.292	0.421904	0.11928	0.002735	0.001283	ENSG00000142538	ENST00000270631	.	.	.	4.3	3.26	0.37387	.	0.489236	0.15528	U	0.257640	T	0.26521	0.0648	L	0.27053	0.805	0.09310	N	1	P	0.46142	0.873	B	0.39419	0.299	T	0.08066	-1.0740	9	0.87932	D	0	-7.2733	12.3672	0.55234	0.0:0.1717:0.8283:0.0	.	22	Q96A98	TIP39_HUMAN	V	22	.	ENSP00000270631:L22V	L	-	1	2	PTH2	54618345	0.088000	0.21588	0.012000	0.15200	0.011000	0.07611	-0.504000	0.06375	0.947000	0.37659	-0.370000	0.07254	CTG		0.692	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449		6	164	0	0	0	1	0	6	164				
FLG	2312	broad.mit.edu	37	1	152277587	152277587	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:152277587C>T	ENST00000368799.1	-	3	9810	c.9775G>A	c.(9775-9777)Gaa>Aaa	p.E3259K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3259	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)			GCTCTGTCTTCGTGATGGGAC	0.582									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(9775-9777)Gaa>Aaa		filaggrin							241.0	245.0	244.0					1																	152277587		2203	4300	6503	SO:0001583	missense	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.chr1:152277587C>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.9775G>A	1.37:g.152277587C>T	ENSP00000357789:p.Glu3259Lys					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.E3259K	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9810	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3259			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.9775G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424271	0.25639	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.02103	4.45	1.52	-3.04	0.05412	.	.	.	.	.	T	0.01287	0.0042	M	0.68317	2.08	0.09310	N	1	D	0.56287	0.975	P	0.55713	0.782	T	0.30416	-0.9979	9	0.07644	T	0.81	-0.6633	3.8186	0.08825	0.0:0.3025:0.4847:0.2128	.	3259	P20930	FILA_HUMAN	K	3259;197	ENSP00000357789:E3259K	ENSP00000357786:E197K	E	-	1	0	FLG	150544211	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.047000	0.03521	-0.855000	0.04125	-0.535000	0.04281	GAA		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		288	2136	0	0	0	1	0	288	2136				
ANKS1A	23294	broad.mit.edu	37	6	34985688	34985688	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:34985688G>A	ENST00000360359.3	+	11	2000	c.1862G>A	c.(1861-1863)cGc>cAc	p.R621H	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	621					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAACTCAGCCGCAGCTTGTCC	0.597																																						ENST00000360359.3																			0				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1861-1863)cGc>cAc		ankyrin repeat and sterile alpha motif domain containing 1A							129.0	146.0	140.0					6																	34985688		2203	4300	6503	SO:0001583	missense	23294					cytoplasm	protein binding	g.chr6:34985688G>A	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.1862G>A	6.37:g.34985688G>A	ENSP00000353518:p.Arg621His					ANKS1A_ENST00000535627.1_Intron	p.R621H	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN			11	2000	+			621					A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	ENST00000360359.3	37	c.1862G>A	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388694	0.82902	.	.	ENSG00000064999	ENST00000360359	T	0.46819	0.86	5.41	5.41	0.78517	.	0.000000	0.50627	D	0.000117	T	0.61640	0.2363	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.63314	-0.6665	10	0.72032	D	0.01	-18.3484	19.5669	0.95397	0.0:0.0:1.0:0.0	.	621	Q92625	ANS1A_HUMAN	H	621	ENSP00000353518:R621H	ENSP00000353518:R621H	R	+	2	0	ANKS1A	35093666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.374000	0.97172	2.694000	0.91930	0.655000	0.94253	CGC		0.597	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		9	1022	0	0	0	1	0	9	1022				
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S166S(4)	urinary_tract(2)|lung(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(496-498)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414346		1434	3114	4548	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414346G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.498C>T	9.37:g.20414346G>A						MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	p.S166S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	784	-			166			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.498C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		8	344	0	0	0	1	0	8	344				
CYP2D7	1564	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:42538870A>C	ENST00000428786.1	-	0	0				CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000424775.1_RNA																							CCATAGCGCGACAGGAACACC	0.687													N|||	80	0.0159744	0.0023	0.0317	5008	,	,		11900	0.0109		0.0348	False		,,,				2504	0.0092					ENST00000358097.4																			0				endometrium(1)	1																																														0							g.chr22:42538870A>C																													22.37:g.42538870A>C						CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA								0	449	-									RNA	SNP	ENST00000428786.1	37			30	0.013736263736263736	1	0.0020325203252032522	5	0.013812154696132596	5	0.008741258741258742	19	0.025065963060686015	C	8.846	0.943329	0.18281	.	.	ENSG00000205702	ENST00000428297;ENST00000381321;ENST00000436260	.	.	.	3.26	3.26	0.37387	.	.	.	.	.	T	0.04724	0.0128	.	.	.	0.28613	N	0.908552	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23154	-1.0196	7	0.02654	T	1	.	8.0614	0.30635	0.2422:0.7578:0.0:0.0	rs2982057	122;32	Q6XP50;F5H167	.;.	A	121;71;32	.	ENSP00000446103:S71A	S	-	1	0	CYP2D7P1	40868814	0.299000	0.24426	0.017000	0.16124	0.002000	0.02628	0.565000	0.23578	0.961000	0.38030	-0.290000	0.09829	TCG		0.687	RP4-669P10.16-001	KNOWN	basic|exp_conf	sense_intronic	sense_intronic	OTTHUMT00000320534.1			6	154	0	0	0	1	0	6	154				
TBP	6908	broad.mit.edu	37	6	170871046	170871046	+	Silent	SNP	A	A	G	rs369312237|rs62430309	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:170871046A>G	ENST00000392092.2	+	3	501	c.222A>G	c.(220-222)caA>caG	p.Q74Q	TBP_ENST00000540980.1_Silent_p.Q54Q|TBP_ENST00000230354.6_Silent_p.Q74Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	74	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcaacagcagcagc	0.567																																						ENST00000392092.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(220-222)caA>caG		TATA box binding protein							16.0	21.0	19.0					6																	170871046		1983	3871	5854	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871046A>G	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.222A>G	6.37:g.170871046A>G						TBP_ENST00000230354.6_Silent_p.Q74Q|TBP_ENST00000540980.1_Silent_p.Q54Q	p.Q74Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	501	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	74			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.222A>G	CCDS5315.1																																																																																				0.567	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		8	328	0	0	0	1	0	8	328				
JAG1	182	broad.mit.edu	37	20	10621878	10621878	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr20:10621878C>T	ENST00000254958.5	-	24	3446	c.2931G>A	c.(2929-2931)gaG>gaA	p.E977E	JAG1_ENST00000423891.2_Silent_p.E818E	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	977					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TGCAAATGTGCTCCGTAGTAA	0.408									Alagille Syndrome																													ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(2929-2931)gaG>gaA		jagged 1							83.0	83.0	83.0					20																	10621878		2203	4300	6503	SO:0001819	synonymous_variant	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10621878C>T	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.2931G>A	20.37:g.10621878C>T						JAG1_ENST00000423891.2_Silent_p.E818E	p.E977E	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			24	3446	-			977					A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	c.2931G>A	CCDS13112.1																																																																																				0.408	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		40	281	0	0	0	1	0	40	281				
FRG1B	284802	broad.mit.edu	37	20	29625892	29625892	+	Missense_Mutation	SNP	T	T	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr20:29625892T>C	ENST00000278882.3	+	5	516	c.136T>C	c.(136-138)Tat>Cat	p.Y46H	FRG1B_ENST00000439954.2_Missense_Mutation_p.Y51H|FRG1B_ENST00000358464.4_Missense_Mutation_p.Y46H			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	46										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAATCTGGCTATGGAAAATA	0.348																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(136-138)Tat>Cat																																						SO:0001583	missense	0							g.chr20:29625892T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.136T>C	20.37:g.29625892T>C	ENSP00000278882:p.Tyr46His					FRG1B_ENST00000358464.4_Missense_Mutation_p.Y46H|FRG1B_ENST00000439954.2_Missense_Mutation_p.Y51H	p.Y46H							5	516	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.136T>C		.	.	.	.	.	.	.	.	.	.	t	11.71	1.718965	0.30503	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50548	0.74	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.53094	0.1775	.	.	.	0.48341	D	0.999631	P	0.36837	0.571	P	0.54499	0.754	T	0.46176	-0.9210	9	0.28530	T	0.3	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	51	F5H5R5	.	H	46;51;46	ENSP00000408863:Y51H	ENSP00000278882:Y46H	Y	+	1	0	FRG1B	28239553	1.000000	0.71417	1.000000	0.80357	0.054000	0.15201	6.623000	0.74238	1.028000	0.39785	0.155000	0.16302	TAT		0.348	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		10	608	0	0	0	1	0	10	608				
DCAF4L1	285429	broad.mit.edu	37	4	41984154	41984154	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:41984154C>T	ENST00000333141.5	+	1	442	c.345C>T	c.(343-345)taC>taT	p.Y115Y		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	115										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						TCCACGTGTACGTGCTCAGAA	0.562																																						ENST00000333141.5																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						c.(343-345)taC>taT		DDB1 and CUL4 associated factor 4-like 1							105.0	97.0	100.0					4																	41984154		2203	4300	6503	SO:0001819	synonymous_variant	285429							g.chr4:41984154C>T	BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.345C>T	4.37:g.41984154C>T							p.Y115Y	NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN			1	442	+			115					B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Silent	SNP	ENST00000333141.5	37	c.345C>T	CCDS33978.1																																																																																				0.562	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955		67	399	0	0	0	1	0	67	399				
PSMA2	5683	broad.mit.edu	37	7	42957275	42957275	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:42957275C>T	ENST00000223321.4	-	8	667	c.603G>A	c.(601-603)ggG>ggA	p.G201G	PSMA2_ENST00000442788.1_Silent_p.G201G|PSMA2_ENST00000445517.1_Silent_p.G131G	NM_002787.4	NP_002778.1	P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	201					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 ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to virus (GO:0009615)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						CTGTCATTTGCCCTTCAAAGC	0.378																																						ENST00000442788.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						c.(601-603)ggG>ggA		proteasome (prosome, macropain) subunit, alpha type, 2							106.0	93.0	97.0					7																	42957275		2203	4300	6503	SO:0001819	synonymous_variant	5683				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|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity	g.chr7:42957275C>T	D00760	CCDS5467.1	7p13	2005-10-11			ENSG00000106588	ENSG00000106588		"""Proteasome (prosome, macropain) subunits"""	9531	protein-coding gene	gene with protein product		176842				2025653, 1888762	Standard	NM_002787		Approved	MU, HC3, PMSA2	uc003thy.3	P25787	OTTHUMG00000023916	ENST00000223321.4:c.603G>A	7.37:g.42957275C>T						PSMA2_ENST00000223321.4_Silent_p.G201G|PSMA2_ENST00000445517.1_Silent_p.G131G	p.G201G			P25787	PSA2_HUMAN			8	618	-			201					Q6ICS6|Q9BU45	Silent	SNP	ENST00000223321.4	37	c.603G>A	CCDS5467.1																																																																																				0.378	PSMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250816.1	NM_002787		5	335	0	0	0	1	0	5	335				
SERPINE1	5054	broad.mit.edu	37	7	100780300	100780300	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:100780300G>A	ENST00000223095.4	+	8	1263	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H	SERPINE1_ENST00000445463.2_Missense_Mutation_p.R354H	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	369		Reactive bond.			angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GTCTCAGCCCGCATGGCCCCC	0.582																																						ENST00000223095.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20						c.(1105-1107)cGc>cAc		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)						131.0	111.0	118.0					7																	100780300		2203	4300	6503	SO:0001583	missense	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100780300G>A	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"""Serine (or cysteine) peptidase inhibitors"""	8583	protein-coding gene	gene with protein product	"""plasminogen activator inhibitor, type I"""	173360	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"""	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.1106G>A	7.37:g.100780300G>A	ENSP00000223095:p.Arg369His					SERPINE1_ENST00000445463.2_Missense_Mutation_p.R354H	p.R369H	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN			8	1263	+	Lung NSC(181;0.136)|all_lung(186;0.182)		369				Reactive bond.	B7Z4S0|F8WD53	Missense_Mutation	SNP	ENST00000223095.4	37	c.1106G>A	CCDS5711.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432084	0.62844	.	.	ENSG00000106366	ENST00000223095;ENST00000445463;ENST00000536888	T;T	0.24350	1.86;1.86	5.67	5.67	0.87782	Serpin domain (3);	0.000000	0.85682	D	0.000000	T	0.55114	0.1900	M	0.85945	2.785	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.70016	0.945;0.967	T	0.60505	-0.7250	10	0.72032	D	0.01	.	15.2607	0.73621	0.0:0.0:1.0:0.0	.	354;369	F8WD53;P05121	.;PAI1_HUMAN	H	369;354;146	ENSP00000223095:R369H;ENSP00000396766:R354H	ENSP00000223095:R369H	R	+	2	0	SERPINE1	100567020	1.000000	0.71417	0.998000	0.56505	0.024000	0.10985	7.941000	0.87700	2.664000	0.90586	0.555000	0.69702	CGC		0.582	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		5	621	0	0	0	1	0	5	621				
GOLGA6B	55889	broad.mit.edu	37	15	72954797	72954797	+	Missense_Mutation	SNP	T	T	C	rs201618622	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr15:72954797T>C	ENST00000421285.3	+	11	1052	c.1052T>C	c.(1051-1053)gTg>gCg	p.V351A	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	351						Golgi apparatus (GO:0005794)		p.V351A(4)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GAGCAGGAGGTGCAGAGAGTG	0.562													t|||	142	0.0283546	0.0159	0.0274	5008	,	,		15500	0.0258		0.0249	False		,,,				2504	0.0521					ENST00000421285.3																			4	Substitution - Missense(4)	p.V351A(4)	skin(2)|lung(1)|endometrium(1)	NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1051-1053)gTg>gCg		golgin A6 family, member B							81.0	81.0	81.0					15																	72954797		2063	3889	5952	SO:0001583	missense	55889							g.chr15:72954797T>C		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6B"""				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.1052T>C	15.37:g.72954797T>C	ENSP00000408132:p.Val351Ala						p.V351A	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN			11	1052	+			351					A8MYY7	Missense_Mutation	SNP	ENST00000421285.3	37	c.1052T>C	CCDS10245.2	.	.	.	.	.	.	.	.	.	.	.	0.612	-0.824760	0.02755	.	.	ENSG00000215186	ENST00000421285	T	0.21031	2.03	0.372	0.372	0.16173	.	.	.	.	.	T	0.07143	0.0181	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36601	-0.9741	9	0.27082	T	0.32	.	4.8248	0.13410	0.0:0.7182:0.0:0.2818	.	351	A6NDN3	GOG6B_HUMAN	A	351	ENSP00000408132:V351A	ENSP00000408132:V351A	V	+	2	0	GOLGA6B	70741851	0.000000	0.05858	0.144000	0.22314	0.053000	0.15095	-2.065000	0.01386	-1.296000	0.02353	-1.896000	0.00531	GTG		0.562	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		9	705	0	0	0	1	0	9	705				
GSK3B	2932	broad.mit.edu	37	3	119595270	119595270	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:119595270G>A	ENST00000264235.8	-	8	1881	c.899C>T	c.(898-900)cCt>cTt	p.P300L	GSK3B_ENST00000473886.1_5'UTR|GSK3B_ENST00000316626.5_Missense_Mutation_p.P300L	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	300	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell migration (GO:0016477)|cellular response to interleukin-3 (GO:0036016)|cellular response to mechanical stimulus (GO:0071260)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|ER overload response (GO:0006983)|establishment of cell polarity (GO:0030010)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hippocampus development (GO:0021766)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|myoblast fusion (GO:0007520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of type B pancreatic cell development (GO:2000077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein binding (GO:0032092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|protein localization to microtubule (GO:0035372)|protein phosphorylation (GO:0006468)|re-entry into mitotic cell cycle (GO:0000320)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of microtubule-based process (GO:0032886)|regulation of neuronal synaptic plasticity (GO:0048168)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|superior temporal gyrus development (GO:0071109)	beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|kinase activity (GO:0016301)|NF-kappaB binding (GO:0051059)|p53 binding (GO:0002039)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II transcription factor binding (GO:0001085)|tau-protein kinase activity (GO:0050321)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	CTTAGTCCAAGGATGTGCCTT	0.333																																						ENST00000264235.8																			0				endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18						c.(898-900)cCt>cTt		glycogen synthase kinase 3 beta	Lithium(DB01356)						152.0	142.0	145.0					3																	119595270		2203	4300	6503	SO:0001583	missense	2932				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding	g.chr3:119595270G>A	BC012760	CCDS2996.1, CCDS54628.1	3q13.3	2008-02-15			ENSG00000082701	ENSG00000082701			4617	protein-coding gene	gene with protein product		605004				10486203	Standard	NM_002093		Approved		uc003edm.3	P49841	OTTHUMG00000133765	ENST00000264235.8:c.899C>T	3.37:g.119595270G>A	ENSP00000264235:p.Pro300Leu					GSK3B_ENST00000316626.5_Missense_Mutation_p.P300L|GSK3B_ENST00000473886.1_5'UTR	p.P300L	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN		GBM - Glioblastoma multiforme(114;0.24)	8	1881	-			300			Protein kinase.		D3DN89|Q9BWH3|Q9UL47	Missense_Mutation	SNP	ENST00000264235.8	37	c.899C>T	CCDS54628.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414006	0.62511	.	.	ENSG00000082701	ENST00000264235;ENST00000316626;ENST00000539838	T;T	0.41400	1.0;1.0	4.62	4.62	0.57501	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.39118	0.1066	L	0.43152	1.355	0.80722	D	1	B;P	0.38129	0.416;0.619	B;B	0.36335	0.222;0.142	T	0.45789	-0.9237	10	0.72032	D	0.01	-6.4785	18.0111	0.89224	0.0:0.0:1.0:0.0	.	300;300	P49841;P49841-2	GSK3B_HUMAN;.	L	300;300;17	ENSP00000264235:P300L;ENSP00000324806:P300L	ENSP00000264235:P300L	P	-	2	0	GSK3B	121077960	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.142000	0.94618	2.561000	0.86390	0.650000	0.86243	CCT		0.333	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258240.2			6	423	0	0	0	1	0	6	423				
GNL1	2794	broad.mit.edu	37	6	30514571	30514571	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:30514571C>T	ENST00000376621.3	-	11	2454	c.1484G>A	c.(1483-1485)cGg>cAg	p.R495Q		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	495					cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CACATCATTCCGAGCCGCCTT	0.522																																						ENST00000376621.3																			0				cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1483-1485)cGg>cAg		guanine nucleotide binding protein-like 1							97.0	97.0	97.0					6																	30514571		1510	2709	4219	SO:0001583	missense	2794				response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity	g.chr6:30514571C>T		CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.1484G>A	6.37:g.30514571C>T	ENSP00000365806:p.Arg495Gln						p.R495Q	NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN			11	2454	-			495					B0S838|Q96CT5	Missense_Mutation	SNP	ENST00000376621.3	37	c.1484G>A	CCDS4680.1	.	.	.	.	.	.	.	.	.	.	C	35	5.554718	0.96514	.	.	ENSG00000204590	ENST00000376621;ENST00000426875;ENST00000429126	T	0.49720	0.77	5.44	5.44	0.79542	.	0.119786	0.56097	D	0.000022	T	0.45458	0.1343	L	0.37630	1.12	0.58432	D	0.999999	P;D;B	0.89917	0.889;1.0;0.052	P;D;B	0.74674	0.617;0.984;0.007	T	0.24512	-1.0158	10	0.09338	T	0.73	-40.1993	18.0176	0.89246	0.0:1.0:0.0:0.0	.	493;292;495	B4DYK6;B4DWZ0;P36915	.;.;GNL1_HUMAN	Q	495;317;292	ENSP00000365806:R495Q	ENSP00000365806:R495Q	R	-	2	0	GNL1	30622550	1.000000	0.71417	0.233000	0.24025	0.996000	0.88848	6.691000	0.74573	2.560000	0.86352	0.561000	0.74099	CGG		0.522	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2			7	474	0	0	0	1	0	7	474				
BMS1P20	96610	broad.mit.edu	37	22	22661272	22661272	+	RNA	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:22661272C>T	ENST00000426066.1	+	0	360					NR_027293.1				BMS1 pseudogene 20																		CTGGGATGTACGTCTGCGTTG	0.488																																						ENST00000426066.1																			0																																																			0							g.chr22:22661272C>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661272C>T								NR_027293.1						0	360	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.488	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	336	0	0	0	1	0	5	336				
PPEF2	5470	broad.mit.edu	37	4	76811270	76811270	+	Missense_Mutation	SNP	C	C	T	rs112682717	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:76811270C>T	ENST00000286719.7	-	5	613	c.257G>A	c.(256-258)cGc>cAc	p.R86H	PPEF2_ENST00000510607.1_5'Flank	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	86					detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)	p.R86H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGTGAATATGCGGGTCAGGAA	0.507													C|||	5	0.000998403	0.003	0.0	5008	,	,		20030	0.0		0.0	False		,,,				2504	0.001				NSCLC(105;1359 1603 15961 44567 47947)	ENST00000286719.7																			1	Substitution - Missense(1)	p.R86H(1)	ovary(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(256-258)cGc>cAc		protein phosphatase, EF-hand calcium binding domain 2		C	HIS/ARG	10,4396	16.8+/-37.8	0,10,2193	154.0	142.0	146.0		257	3.3	1.0	4	dbSNP_132	146	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PPEF2	NM_006239.2	29	0,11,6492	TT,TC,CC		0.0116,0.227,0.0846	benign	86/754	76811270	11,12995	2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76811270C>T	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.257G>A	4.37:g.76811270C>T	ENSP00000286719:p.Arg86His						p.R86H	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		5	613	-			86					O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.257G>A	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	C	5.026	0.190443	0.09547	0.00227	1.16E-4	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.54866	0.55	5.07	3.33	0.38152	.	1.404560	0.04188	N	0.327755	T	0.42404	0.1201	L	0.27053	0.805	0.35716	D	0.816798	B;B	0.17465	0.02;0.022	B;B	0.15052	0.009;0.012	T	0.12941	-1.0528	10	0.23302	T	0.38	-0.3045	9.4751	0.38867	0.0:0.8244:0.0:0.1756	.	86;86	O14830-2;O14830	.;PPE2_HUMAN	H	86	ENSP00000286719:R86H	ENSP00000286719:R86H	R	-	2	0	PPEF2	77030294	1.000000	0.71417	0.996000	0.52242	0.015000	0.08874	2.004000	0.40854	0.540000	0.28808	0.313000	0.20887	CGC		0.507	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		5	417	0	0	0	1	0	5	417				
ATRAID	51374	broad.mit.edu	37	2	27438520	27438520	+	Missense_Mutation	SNP	A	A	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:27438520A>C	ENST00000606999.1	+	5	444	c.386A>C	c.(385-387)aAc>aCc	p.N129T	CAD_ENST00000264705.4_5'Flank|CAD_ENST00000403525.1_5'Flank|ATRAID_ENST00000405489.3_Missense_Mutation_p.N71T|ATRAID_ENST00000380171.3_Missense_Mutation_p.N184T	NM_001170795.1	NP_001164266.1	Q6UW56	ARAID_HUMAN	all-trans retinoic acid-induced differentiation factor	129					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)											CAACATGTCAACTGTCCTGGA	0.418																																						ENST00000380171.3																			0											c.(550-552)aAc>aCc		all-trans retinoic acid-induced differentiation factor							141.0	138.0	139.0					2																	27438520		2203	4300	6503	SO:0001583	missense	51374							g.chr2:27438520A>C	BC021237	CCDS1741.1, CCDS46243.1, CCDS62877.1	2p23.3	2012-08-01	2012-07-30	2012-07-30	ENSG00000138085	ENSG00000138085			24090	protein-coding gene	gene with protein product	"""apoptosis-related protein 3"""		"""chromosome 2 open reading frame 28"""	C2orf28		17524364, 21723284	Standard	NM_016085		Approved	HSPC013, p18, APR3	uc002rjf.3	Q6UW56	OTTHUMG00000128405	ENST00000606999.1:c.386A>C	2.37:g.27438520A>C	ENSP00000476080:p.Asn129Thr					ATRAID_ENST00000606999.1_Missense_Mutation_p.N129T|ATRAID_ENST00000405489.3_Missense_Mutation_p.N71T	p.N184T	NM_080592.3	NP_542159.3					5	728	+								A8C1S2|A8K779|Q96FF6|Q96RT2|Q9Y2R7|Q9Y5L7	Missense_Mutation	SNP	ENST00000606999.1	37	c.551A>C		.	.	.	.	.	.	.	.	.	.	a	0.850	-0.738915	0.03088	.	.	ENSG00000138085	ENST00000380171;ENST00000405489;ENST00000419744	T;T	0.46451	0.87;0.92	5.49	-11.0	0.00169	.	1.608160	0.02821	N	0.125596	T	0.23054	0.0557	N	0.19112	0.55	0.09310	N	1	B;B	0.17667	0.0;0.023	B;B	0.12837	0.002;0.008	T	0.09640	-1.0665	10	0.27785	T	0.31	-22.0169	8.6324	0.33928	0.6745:0.078:0.1695:0.078	.	129;184	Q6UW56;Q6UW56-3	APR3_HUMAN;.	T	184;71;71	ENSP00000369518:N184T;ENSP00000384033:N71T	ENSP00000369518:N184T	N	+	2	0	C2orf28	27292024	0.000000	0.05858	0.001000	0.08648	0.320000	0.28249	-1.569000	0.02142	-3.391000	0.00173	-1.176000	0.01726	AAC		0.418	ATRAID-007	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470709.1	NM_016085		9	683	0	0	0	1	0	9	683				
RBM12	10137	broad.mit.edu	37	20	34241168	34241168	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr20:34241168G>A	ENST00000374114.3	-	3	2340	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397446.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|CPNE1_ENST00000352393.4_Intron|RP1-309K20.6_ENST00000541176.2_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	693	Gly-rich.|Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCTGCACTGGGCATTCCCGCA	0.557																																						ENST00000374114.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2077-2079)Ccc>Tcc		RNA binding motif protein 12							49.0	47.0	48.0					20																	34241168		2199	4292	6491	SO:0001583	missense	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34241168G>A	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.2077C>T	20.37:g.34241168G>A	ENSP00000363228:p.Pro693Ser					RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397442.1_Intron	p.P693S	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	2340	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		693			Gly-rich.|Pro-rich.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	c.2077C>T	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	G	36	5.653504	0.96724	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.22336	1.96;1.96;1.96	4.03	4.03	0.46877	.	0.000000	0.64402	D	0.000018	T	0.27663	0.0680	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.02365	-1.1170	10	0.19590	T	0.45	-3.377	14.4866	0.67622	0.0:0.0:1.0:0.0	.	693	Q9NTZ6	RBM12_HUMAN	S	693;693;693;492	ENSP00000363228:P693S;ENSP00000352668:P693S;ENSP00000363217:P693S	ENSP00000339879:P492S	P	-	1	0	RBM12	33704582	0.002000	0.14202	0.997000	0.53966	0.903000	0.53119	-0.160000	0.10041	2.528000	0.85240	0.563000	0.77884	CCC		0.557	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		5	387	0	0	0	1	0	5	387				
TYW1	55253	broad.mit.edu	37	7	66479413	66479413	+	Silent	SNP	T	T	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:66479413T>C	ENST00000359626.5	+	5	599	c.435T>C	c.(433-435)acT>acC	p.T145T		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	145	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)	p.T145T(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GCCTACCAACTGAAAGTGCAG	0.428																																						ENST00000359626.5																			1	Substitution - coding silent(1)	p.T145T(1)	urinary_tract(1)	breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(433-435)acT>acC		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)																																				SO:0001819	synonymous_variant	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66479413T>C	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.435T>C	7.37:g.66479413T>C							p.T145T	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			5	599	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	145			Flavodoxin-like.		Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	ENST00000359626.5	37	c.435T>C	CCDS5538.1																																																																																				0.428	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		6	719	0	0	0	1	0	6	719				
ZNF384	171017	broad.mit.edu	37	12	6782390	6782390	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:6782390C>T	ENST00000396801.3	-	7	1110	c.903G>A	c.(901-903)caG>caA	p.Q301Q	ZNF384_ENST00000319770.3_Silent_p.Q285Q|ZNF384_ENST00000396795.1_Silent_p.Q301Q|ZNF384_ENST00000361959.3_Silent_p.Q301Q|RP4-761J14.8_ENST00000586338.1_RNA|ZNF384_ENST00000396799.2_Silent_p.Q301Q|ZNF384_ENST00000355772.4_Silent_p.Q246Q	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	301					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						ACCGGGTGTGCTGCTGAAGGT	0.542			T	"""EWSR1, TAF15 """	ALL																																	ENST00000396795.1				Dom	yes		12	12p13	171017	T	zinc finger protein 384 (CIZ/NMP4)			L	"""EWSR1, TAF15 """		ALL	EWSR1/ZNF384(4)	0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						c.(901-903)caG>caA		zinc finger protein 384							71.0	66.0	68.0					12																	6782390		2203	4300	6503	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:6782390C>T	U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"""Zinc fingers, C2H2-type"""	11955	protein-coding gene	gene with protein product		609951	"""trinucleotide repeat containing 1"""	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.903G>A	12.37:g.6782390C>T						ZNF384_ENST00000319770.3_Silent_p.Q285Q|ZNF384_ENST00000396801.3_Silent_p.Q301Q|ZNF384_ENST00000396799.2_Silent_p.Q301Q|ZNF384_ENST00000361959.3_Silent_p.Q301Q|ZNF384_ENST00000355772.4_Silent_p.Q246Q	p.Q301Q			Q8TF68	ZN384_HUMAN			6	1400	-			301					O15407|Q7Z722|Q8N938	Silent	SNP	ENST00000396801.3	37	c.903G>A	CCDS44817.1																																																																																				0.542	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1			4	159	0	0	0	1	0	4	159				
SBNO1	55206	broad.mit.edu	37	12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:123780522G>A	ENST00000602398.1	-	32	4242	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000420886.2_Missense_Mutation_p.A1372V			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372					regulation of transcription, DNA-templated (GO:0006355)			p.A1371V(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGTTGGACCGCAAGCTGTTG	0.433																																						ENST00000420886.2																			2	Substitution - Missense(2)	p.A1371V(2)	lung(1)|prostate(1)	NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(4114-4116)gCg>gTg		strawberry notch homolog 1 (Drosophila)							340.0	303.0	316.0					12																	123780522		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123780522G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.4115C>T	12.37:g.123780522G>A	ENSP00000473665:p.Ala1372Val					SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V	p.A1372V	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	31	4114	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1372					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.4115C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622923	0.87460	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.32515	1.45;1.45	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.959;0.981	T	0.12785	-1.0534	10	0.33940	T	0.23	-19.465	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1372;1371	A3KN83;A3KN83-2	SBNO1_HUMAN;.	V	1372;1371	ENSP00000387361:A1372V;ENSP00000267176:A1371V	ENSP00000267176:A1371V	A	-	2	0	SBNO1	122346475	1.000000	0.71417	0.790000	0.31976	0.976000	0.68499	9.431000	0.97494	2.873000	0.98535	0.561000	0.74099	GCG		0.433	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		9	897	0	0	0	1	0	9	897				
SARS2	54938	broad.mit.edu	37	19	39421234	39421234	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:39421234G>A	ENST00000221431.6	-	1	302	c.143C>T	c.(142-144)gCg>gTg	p.A48V	SARS2_ENST00000448145.2_Intron|CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000594171.1_5'Flank|SARS2_ENST00000430193.3_Missense_Mutation_p.A48V|MRPS12_ENST00000308018.4_5'UTR|MRPS12_ENST00000402029.3_5'Flank|SARS2_ENST00000600042.1_Missense_Mutation_p.A48V|MRPS12_ENST00000407800.2_5'Flank	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	48					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GCCCTCGCGCGCATACTCGTA	0.627											OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000221431.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15						c.(142-144)gCg>gTg		seryl-tRNA synthetase 2, mitochondrial							97.0	84.0	88.0					19																	39421234		2203	4300	6503	SO:0001583	missense	54938				seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity	g.chr19:39421234G>A	AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	17697	protein-coding gene	gene with protein product	"""serine tRNA ligase 2, mitochondrial"""	612804	"""serine-tRNA ligase, mitochondrial"", ""seryl-tRNA synthetase 2"""	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.143C>T	19.37:g.39421234G>A	ENSP00000221431:p.Ala48Val		OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	885	MRPS12_ENST00000308018.4_5'UTR|SARS2_ENST00000430193.3_Missense_Mutation_p.A48V|SARS2_ENST00000448145.2_Intron|SARS2_ENST00000600042.1_Missense_Mutation_p.A48V|CTC-360G5.8_ENST00000599996.1_Intron	p.A48V	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		1	302	-	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		48					A6NHW7|B4DE10|Q9BVP3	Missense_Mutation	SNP	ENST00000221431.6	37	c.143C>T	CCDS33017.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512002	0.44660	.	.	ENSG00000104835	ENST00000430193;ENST00000221431;ENST00000455102	T;T;T	0.55588	0.51;0.51;1.49	5.65	4.57	0.56435	.	0.122893	0.53938	D	0.000045	T	0.40979	0.1139	L	0.43923	1.385	.	.	.	D;B;B	0.56746	0.977;0.206;0.257	B;B;B	0.43623	0.425;0.014;0.007	T	0.44952	-0.9294	9	0.16896	T	0.51	.	8.6175	0.33840	0.1027:0.0:0.8973:0.0	.	48;48;48	B4DJP6;B4DE10;Q9NP81	.;.;SYSM_HUMAN	V	48	ENSP00000406754:A48V;ENSP00000221431:A48V;ENSP00000414954:A48V	ENSP00000221431:A48V	A	-	2	0	FBXO17	44113074	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	3.764000	0.55264	2.941000	0.99782	0.655000	0.94253	GCG		0.627	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463139.1	NM_017827		7	700	0	0	0	1	0	7	700				
PGAM5	192111	broad.mit.edu	37	12	133294121	133294121	+	Missense_Mutation	SNP	C	C	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:133294121C>A	ENST00000498926.2	+	3	525	c.467C>A	c.(466-468)aCc>aAc	p.T156N	PGAM5_ENST00000543955.1_Missense_Mutation_p.T7N|PGAM5_ENST00000454808.2_Missense_Mutation_p.T7N|PXMP2_ENST00000545677.1_3'UTR|PGAM5_ENST00000317555.2_Missense_Mutation_p.T156N	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	156					dephosphorylation (GO:0016311)|necroptotic process (GO:0070266)|positive regulation of GTPase activity (GO:0043547)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein complex binding (GO:0032403)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		GCCATAGAGACCACCGATATC	0.632																																						ENST00000498926.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(466-468)aCc>aAc		phosphoglycerate mutase family member 5							57.0	62.0	60.0					12																	133294121		2203	4299	6502	SO:0001583	missense	192111					integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity	g.chr12:133294121C>A	BC008196	CCDS9280.1, CCDS53845.1	12q24.33	2011-07-28			ENSG00000247077	ENSG00000247077			28763	protein-coding gene	gene with protein product		614939				11283018	Standard	NM_001170543		Approved	MGC5352, BXLBv68	uc009zyv.3	Q96HS1	OTTHUMG00000168021	ENST00000498926.2:c.467C>A	12.37:g.133294121C>A	ENSP00000438465:p.Thr156Asn					PXMP2_ENST00000545677.1_3'UTR|PGAM5_ENST00000454808.2_Missense_Mutation_p.T7N|PGAM5_ENST00000317555.2_Missense_Mutation_p.T156N|PGAM5_ENST00000543955.1_Missense_Mutation_p.T7N	p.T156N	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)	3	525	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		156					A9LN06|C9IZY7|Q96JB0	Missense_Mutation	SNP	ENST00000498926.2	37	c.467C>A	CCDS53845.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019366	0.75275	.	.	ENSG00000247077	ENST00000317555;ENST00000498926;ENST00000543955;ENST00000454808	T;D	0.88896	-0.78;-2.44	5.6	5.6	0.85130	Histidine phosphatase superfamily, clade-1 (2);	0.000000	0.85682	D	0.000000	D	0.97225	0.9093	H	0.99042	4.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.98593	1.0655	10	0.87932	D	0	-3.1057	19.6338	0.95721	0.0:1.0:0.0:0.0	.	156;156	Q96HS1;Q96HS1-2	PGAM5_HUMAN;.	N	156;156;7;7	ENSP00000321503:T156N;ENSP00000438465:T156N	ENSP00000321503:T156N	T	+	2	0	PGAM5	131804194	1.000000	0.71417	0.978000	0.43139	0.113000	0.19764	7.255000	0.78338	2.636000	0.89361	0.591000	0.81541	ACC		0.632	PGAM5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397562.1	NM_138575		28	202	1	0	5.62743e-28	1	6.04063e-28	28	202				
HAP1	9001	broad.mit.edu	37	17	39881124	39881124	+	Silent	SNP	G	G	A	rs370925764		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:39881124G>A	ENST00000310778.5	-	12	1854	c.1845C>T	c.(1843-1845)agC>agT	p.S615S	HAP1_ENST00000393939.2_Silent_p.S538S|HAP1_ENST00000341193.5_Silent_p.S546S|JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Silent_p.S563S			P54257	HAP1_HUMAN	huntingtin-associated protein 1	615					anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GGCCCAAGCCGCTGGCCTCCA	0.607																																						ENST00000393939.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21						c.(1612-1614)agC>agT		huntingtin-associated protein 1		G	,,	0,4406		0,0,2203	199.0	181.0	187.0		1638,1614,1689	-5.3	0.4	17		187	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	HAP1	NM_001079870.1,NM_001079871.1,NM_177977.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	546/603,538/595,563/620	39881124	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9001				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	g.chr17:39881124G>A	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1845C>T	17.37:g.39881124G>A						HAP1_ENST00000347901.4_Silent_p.S563S|HAP1_ENST00000310778.5_Silent_p.S615S|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Silent_p.S546S	p.S538S			P54257	HAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		10	1623	-		Breast(137;0.000162)	615			Glu-rich.		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Silent	SNP	ENST00000310778.5	37	c.1614C>T																																																																																					0.607	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		7	1191	0	0	0	1	0	7	1191				
TUBA3C	7278	broad.mit.edu	37	13	19751462	19751462	+	Missense_Mutation	SNP	G	G	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr13:19751462G>T	ENST00000400113.3	-	4	765	c.661C>A	c.(661-663)Cgt>Agt	p.R221S		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	221					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TACGTGGGACGCTCGATGTCC	0.562																																						ENST00000400113.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(661-663)Cgt>Agt		tubulin, alpha 3c							229.0	191.0	204.0					13																	19751462		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19751462G>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.661C>A	13.37:g.19751462G>T	ENSP00000382982:p.Arg221Ser						p.R221S	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	4	765	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	221					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.661C>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	g	5.764	0.325301	0.10900	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.68903	-0.36	1.21	0.295	0.15752	.	0.000000	0.45606	U	0.000349	T	0.67924	0.2945	.	.	.	0.40253	D	0.978091	.	.	.	.	.	.	T	0.65919	-0.6051	7	0.87932	D	0	.	5.6914	0.17831	0.2073:0.0:0.7927:0.0	.	.	.	.	S	221	ENSP00000382982:R221S	ENSP00000354037:R221S	R	-	1	0	TUBA3C	18649462	1.000000	0.71417	0.984000	0.44739	0.464000	0.32679	3.327000	0.52045	0.076000	0.16826	0.184000	0.17185	CGT		0.562	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		8	917	1	0	1.12685e-05	1	1.15314e-05	8	917				
BMS1P20	96610	broad.mit.edu	37	22	22661478	22661478	+	RNA	SNP	T	T	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:22661478T>G	ENST00000426066.1	+	0	368					NR_027293.1				BMS1 pseudogene 20																		CAGATGCGTCTGAAGAAACAT	0.488																																						ENST00000426066.1																			0																																																			0							g.chr22:22661478T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661478T>G								NR_027293.1						0	368	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.488	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			6	327	0	0	0	1	0	6	327				
SH3RF2	153769	broad.mit.edu	37	5	145435652	145435652	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:145435652G>A	ENST00000511217.1	+	7	1483	c.1431G>A	c.(1429-1431)cgG>cgA	p.R477R	SH3RF2_ENST00000359120.4_Silent_p.R477R|SH3RF2_ENST00000511705.1_3'UTR			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	477			R -> Q (in dbSNP:rs35165046).		negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGATCCACGGCAAAGCCGTC	0.562																																						ENST00000511217.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22						c.(1429-1431)cgG>cgA		SH3 domain containing ring finger 2							136.0	129.0	132.0					5																	145435652		2203	4300	6503	SO:0001819	synonymous_variant	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145435652G>A	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1431G>A	5.37:g.145435652G>A						SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Silent_p.R477R	p.R477R			Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1483	+			477		R -> Q (in dbSNP:rs35165046).			A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Silent	SNP	ENST00000511217.1	37	c.1431G>A	CCDS4280.1																																																																																				0.562	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		6	872	0	0	0	1	0	6	872				
PCSK5	5125	broad.mit.edu	37	9	78790192	78790192	+	Intron	SNP	C	C	G	rs200914896		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:78790192C>G	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376767.3_Missense_Mutation_p.R683G|PCSK5_ENST00000376752.4_Intron	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ggaatggaatcgaatcgaatc	0.373																																						ENST00000376767.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(2047-2049)Cga>Gga		proprotein convertase subtilisin/kexin type 5																																				SO:0001627	intron_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78790192C>G		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+147C>G	9.37:g.78790192C>G						PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron	p.R683G			Q92824	PCSK5_HUMAN			14	2559	+			0			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.2047C>G	CCDS55320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	0.525|0.525	-0.860634|-0.860634	0.02610|0.02610	.|.	.|.	ENSG00000099139|ENSG00000099139	ENST00000376767|ENST00000396108	T|.	0.65916|.	-0.18|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.35098|0.35098	0.0920|0.0920	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.38045|0.38045	-0.9679|-0.9679	7|4	0.07325|0.87932	T|D	0.83|0	.|.	2.8186|2.8186	0.05465|0.05465	0.5:0.5:0.0:0.0|0.5:0.5:0.0:0.0	.|.	683|.	B1AMG5|.	.|.	G|W	683|681	ENSP00000365958:R683G|.	ENSP00000365958:R683G|ENSP00000379415:S681W	R|S	+|+	1|2	2|0	PCSK5|PCSK5	77980012|77980012	0.000000|0.000000	0.05858|0.05858	0.075000|0.075000	0.20258|0.20258	0.077000|0.077000	0.17291|0.17291	-2.681000|-2.681000	0.00837|0.00837	-0.000000|-0.000000	0.14550|0.14550	0.000000|0.000000	0.15137|0.15137	CGA|TCG		0.373	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				8	47	0	0	0	1	0	8	47				
RTEL1	51750	broad.mit.edu	37	20	62324513	62324513	+	Missense_Mutation	SNP	C	C	T	rs398123018		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr20:62324513C>T	ENST00000360203.5	+	30	3194	c.2869C>T	c.(2869-2871)Cgg>Tgg	p.R957W	RTEL1_ENST00000318100.4_Missense_Mutation_p.R957W|RTEL1_ENST00000508582.2_Missense_Mutation_p.R981W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R957W|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R957W|RTEL1_ENST00000370003.1_Missense_Mutation_p.R202W					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCAGTTTGTGCGGCCCCACCA	0.597																																						ENST00000318100.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2869-2871)Cgg>Tgg		regulator of telomere elongation helicase 1							105.0	112.0	110.0					20																	62324513		2198	4293	6491	SO:0001583	missense	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62324513C>T	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2869C>T	20.37:g.62324513C>T	ENSP00000353332:p.Arg957Trp					RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R957W|RTEL1_ENST00000508582.2_Missense_Mutation_p.R981W|RTEL1_ENST00000360203.5_Missense_Mutation_p.R957W|RTEL1_ENST00000370003.1_Missense_Mutation_p.R202W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R957W	p.R957W			Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		30	3696	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		957						Missense_Mutation	SNP	ENST00000360203.5	37	c.2869C>T		.	.	.	.	.	.	.	.	.	.	C	16.46	3.130295	0.56721	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000370003	T;T;T;T;T	0.10668	2.85;2.85;2.85;2.85;2.85	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.33498	0.0865	M	0.71581	2.175	0.54753	D	0.999983	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.996;0.991;0.995	T	0.09596	-1.0667	10	0.87932	D	0	-22.5328	16.6576	0.85232	0.0:1.0:0.0:0.0	.	981;202;957;957	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	W	957;957;981;957;202	ENSP00000359035:R957W;ENSP00000322287:R957W;ENSP00000424307:R981W;ENSP00000353332:R957W;ENSP00000359020:R202W	ENSP00000353332:R957W	R	+	1	2	AL353715.1	61794957	0.995000	0.38212	0.946000	0.38457	0.033000	0.12548	3.313000	0.51935	2.220000	0.72140	0.289000	0.19496	CGG		0.597	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		6	835	0	0	0	1	0	6	835				
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:45128812C>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AGTCCTGTTTCTGTGTGGATT	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128812C>T																													17.37:g.45128812C>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			6	218	0	0	0	1	0	6	218				
NACA	4666	broad.mit.edu	37	12	57111912	57111912	+	Silent	SNP	G	G	A	rs2926744		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:57111912G>A	ENST00000454682.1	-	3	3683	c.3402C>T	c.(3400-3402)ccC>ccT	p.P1134P	NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1134	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						CTTTTGGGGAGGGAGGAGTTG	0.642			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.(3400-3402)ccC>ccT		nascent polypeptide-associated complex alpha subunit							61.0	59.0	60.0					12																	57111912		1261	2772	4033	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111912G>A	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.3402C>T	12.37:g.57111912G>A						NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron	p.P1134P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3683	-			0						Silent	SNP	ENST00000454682.1	37	c.3402C>T																																																																																					0.642	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		5	353	0	0	0	1	0	5	353				
ALOX15B	247	broad.mit.edu	37	17	7948584	7948584	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:7948584G>A	ENST00000380183.4	+	7	1017	c.878G>A	c.(877-879)gGc>gAc	p.G293D	ALOX15B_ENST00000572022.1_Missense_Mutation_p.G293D|ALOX15B_ENST00000380173.2_Missense_Mutation_p.G293D|ALOX15B_ENST00000573359.1_Missense_Mutation_p.G293D	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	293	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GTGGATCACGGCATCCTCTCT	0.562																																						ENST00000380183.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						c.(877-879)gGc>gAc		arachidonate 15-lipoxygenase, type B							90.0	92.0	91.0					17																	7948584		2203	4300	6503	SO:0001583	missense	247				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7948584G>A	U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"""Arachidonate lipoxygenases"""	434	protein-coding gene	gene with protein product		603697	"""arachidonate 15-lipoxygenase, second type"""			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.878G>A	17.37:g.7948584G>A	ENSP00000369530:p.Gly293Asp					ALOX15B_ENST00000380173.2_Missense_Mutation_p.G293D|ALOX15B_ENST00000572022.1_Missense_Mutation_p.G293D|ALOX15B_ENST00000573359.1_Missense_Mutation_p.G293D	p.G293D	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN			7	1017	+			293			Lipoxygenase.		D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Missense_Mutation	SNP	ENST00000380183.4	37	c.878G>A	CCDS11128.1	.	.	.	.	.	.	.	.	.	.	G	7.544	0.661307	0.14645	.	.	ENSG00000179593	ENST00000380173;ENST00000339694;ENST00000380183	D;D	0.89617	-2.54;-2.54	4.09	-0.69	0.11309	Lipoxygenase, C-terminal (3);	0.404263	0.26700	N	0.022951	T	0.74943	0.3783	L	0.31926	0.97	0.09310	N	1	B;B;B;B	0.10296	0.003;0.002;0.002;0.003	B;B;B;B	0.12837	0.008;0.005;0.005;0.008	T	0.55283	-0.8165	10	0.15499	T	0.54	-6.6648	0.4088	0.00437	0.2487:0.1455:0.3088:0.297	.	293;293;293;293	B4DNW8;O15296-2;O15296-4;O15296	.;.;.;LX15B_HUMAN	D	293	ENSP00000369520:G293D;ENSP00000369530:G293D	ENSP00000344337:G293D	G	+	2	0	ALOX15B	7889309	0.108000	0.22018	0.015000	0.15790	0.466000	0.32739	3.128000	0.50492	-0.297000	0.08934	0.467000	0.42956	GGC		0.562	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2			5	631	0	0	0	1	0	5	631				
NAA40	79829	broad.mit.edu	37	11	63721522	63721522	+	Splice_Site	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:63721522G>A	ENST00000377793.4	+	7	673		c.e7+1		NAA40_ENST00000542163.1_Splice_Site|NAA40_ENST00000539656.1_Splice_Site|NAA40_ENST00000456907.2_Splice_Site	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit						lipid metabolic process (GO:0006629)		N-acetyltransferase activity (GO:0008080)			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						AAGCGTTGCAGTAAGGAGCTG	0.512																																						ENST00000377793.4																			0				NS(1)|endometrium(1)|lung(2)|prostate(1)	5						c.e7+1		N(alpha)-acetyltransferase 40, NatD catalytic subunit							135.0	140.0	138.0					11																	63721522		2201	4297	6498	SO:0001630	splice_region_variant	79829						N-acetyltransferase activity	g.chr11:63721522G>A	AK023910	CCDS8053.1, CCDS73311.1	11q13.1	2013-10-11	2013-08-28	2010-01-14	ENSG00000110583	ENSG00000110583		"""N(alpha)-acetyltransferase subunits"""	25845	protein-coding gene	gene with protein product			"""N-acetyltransferase 11"", ""N-acetyltransferase 11 (GCN5-related, putative)"", ""N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae)"""	NAT11		19660095	Standard	XM_005274296		Approved	FLJ13848	uc009yoz.3	Q86UY6	OTTHUMG00000167784	ENST00000377793.4:c.572+1G>A	11.37:g.63721522G>A						NAA40_ENST00000542163.1_Splice_Site|NAA40_ENST00000456907.2_Splice_Site|NAA40_ENST00000539656.1_Splice_Site		NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN			7	673	+								B4DR03|B4DU10|Q5HYL5|Q9H897	Splice_Site	SNP	ENST00000377793.4	37		CCDS8053.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596843	0.86953	.	.	ENSG00000110583	ENST00000377793;ENST00000456907;ENST00000539656;ENST00000542163	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6823	0.88247	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NAA40	63478098	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.436000	0.97532	2.474000	0.83562	0.462000	0.41574	.		0.512	NAA40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396266.1	NM_024771	Intron	5	598	0	0	0	1	0	5	598				
KRI1	65095	broad.mit.edu	37	19	10673457	10673457	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:10673457G>A	ENST00000312962.6	-	4	368	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	KRI1_ENST00000537964.1_Intron|KRI1_ENST00000361821.5_Missense_Mutation_p.R113W	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	111	Glu-rich.					nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TACATGGGCCGCACTTTCTTC	0.557																																						ENST00000312962.6																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(349-351)Cgg>Tgg		KRI1 homolog (S. cerevisiae)							282.0	229.0	247.0					19																	10673457		2203	4300	6503	SO:0001583	missense	65095							g.chr19:10673457G>A		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.349C>T	19.37:g.10673457G>A	ENSP00000320917:p.Arg117Trp					KRI1_ENST00000361821.5_Missense_Mutation_p.R113W|KRI1_ENST00000537964.1_Intron	p.R117W	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		4	368	-			117			Glu-rich.		Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Missense_Mutation	SNP	ENST00000312962.6	37	c.349C>T	CCDS12242.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497981	0.64186	.	.	ENSG00000129347	ENST00000312962;ENST00000361821;ENST00000541101;ENST00000539027	T;T;T	0.34472	1.36;1.36;1.36	4.36	2.0	0.26442	.	0.498135	0.18588	N	0.136801	T	0.27098	0.0664	L	0.39898	1.24	0.09310	N	0.999998	D;D	0.63046	0.985;0.992	B;B	0.40534	0.232;0.332	T	0.15292	-1.0442	10	0.87932	D	0	-0.1422	9.9337	0.41539	0.0:0.0:0.3644:0.6356	.	117;113	Q8N9T8;D3YTE0	KRI1_HUMAN;.	W	117;113;117;108	ENSP00000320917:R117W;ENSP00000355366:R113W;ENSP00000445789:R108W	ENSP00000320917:R117W	R	-	1	2	KRI1	10534457	0.335000	0.24748	0.040000	0.18447	0.690000	0.40134	2.616000	0.46376	0.775000	0.33450	0.393000	0.25936	CGG		0.557	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008		6	919	0	0	0	1	0	6	919				
IL1F10	84639	broad.mit.edu	37	2	113832336	113832336	+	Missense_Mutation	SNP	G	G	A	rs142851873		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:113832336G>A	ENST00000393197.2	+	3	576	c.155G>A	c.(154-156)cGc>cAc	p.R52H	IL1F10_ENST00000341010.2_Missense_Mutation_p.R52H|IL1F10_ENST00000337569.3_Missense_Mutation_p.R52H	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	52						extracellular space (GO:0005615)				endometrium(1)|lung(6)|ovary(1)	8						GGCTTGGCCCGCACCAAGGTC	0.587																																						ENST00000393197.2																			0				endometrium(1)|lung(6)|ovary(1)	8						c.(154-156)cGc>cAc		interleukin 1 family, member 10 (theta)		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	87.0	89.0	88.0		155,155	3.1	0.9	2	dbSNP_134	88	0,8600		0,0,4300	no	missense,missense	IL1F10	NM_032556.5,NM_173161.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	52/153,52/153	113832336	1,13005	2203	4300	6503	SO:0001583	missense	84639					extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113832336G>A	AY026753	CCDS2112.1	2q13	2011-07-14			ENSG00000136697	ENSG00000136697		"""Interleukins and interleukin receptors"""	15552	protein-coding gene	gene with protein product	"""FIL1- theta"", ""interleukin-1 receptor antagonist FKSG75"""	615296				11747621, 11991723, 11991722	Standard	NM_173161		Approved	FKSG75, IL-1HY2, IL-1F10, IL1-theta, MGC11983, MGC119832, MGC119833	uc002tiu.3	Q8WWZ1	OTTHUMG00000131339	ENST00000393197.2:c.155G>A	2.37:g.113832336G>A	ENSP00000376893:p.Arg52His					IL1F10_ENST00000341010.2_Missense_Mutation_p.R52H|IL1F10_ENST00000337569.3_Missense_Mutation_p.R52H	p.R52H	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN			3	576	+			52					Q53SR9|Q56AT8|Q7RTZ5|Q969H5|Q9BYX1	Missense_Mutation	SNP	ENST00000393197.2	37	c.155G>A	CCDS2112.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650541	0.67472	2.27E-4	0.0	ENSG00000136697	ENST00000341010;ENST00000337569;ENST00000393197	T;T;T	0.17213	2.29;2.29;2.29	5.1	3.14	0.36123	.	0.282328	0.39083	N	0.001480	T	0.31009	0.0783	M	0.65975	2.015	0.34077	D	0.659159	D;B	0.76494	0.999;0.073	D;B	0.63113	0.911;0.013	T	0.41822	-0.9487	10	0.45353	T	0.12	-7.7042	6.8927	0.24238	0.0958:0.1753:0.729:0.0	.	52;52	Q8WWZ1-2;Q8WWZ1	.;IL1FA_HUMAN	H	52	ENSP00000341794:R52H;ENSP00000338418:R52H;ENSP00000376893:R52H	ENSP00000338418:R52H	R	+	2	0	IL1F10	113548807	0.612000	0.27000	0.925000	0.36789	0.844000	0.47949	1.084000	0.30828	1.275000	0.44379	0.655000	0.94253	CGC		0.587	IL1F10-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330725.1	NM_173161		6	589	0	0	0	1	0	6	589				
CD163L1	283316	broad.mit.edu	37	12	7559219	7559219	+	Silent	SNP	G	G	A	rs143012538	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:7559219G>A	ENST00000313599.3	-	5	1053	c.996C>T	c.(994-996)tcC>tcT	p.S332S	CD163L1_ENST00000416109.2_Silent_p.S342S|CD163L1_ENST00000396630.1_Silent_p.S332S			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	332	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ATTCATTACCGGAGCAGGAGA	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.001					ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(994-996)tcC>tcT		CD163 molecule-like 1		G		0,4406		0,0,2203	178.0	144.0	156.0		996	-3.5	0.0	12	dbSNP_134	156	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	CD163L1	NM_174941.4		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		332/1454	7559219	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7559219G>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.996C>T	12.37:g.7559219G>A						CD163L1_ENST00000396630.1_Silent_p.S332S|CD163L1_ENST00000416109.2_Silent_p.S342S	p.S332S			Q9NR16	C163B_HUMAN			5	1053	-			332			SRCR 3.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	c.996C>T	CCDS8577.1																																																																																				0.473	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		6	436	0	0	0	1	0	6	436				
EIF4EBP2	1979	broad.mit.edu	37	10	72179709	72179709	+	Missense_Mutation	SNP	G	G	C	rs201220454		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr10:72179709G>C	ENST00000373218.4	+	2	208	c.185G>C	c.(184-186)cGt>cCt	p.R62P		NM_004096.4	NP_004087.1	Q13542	4EBP2_HUMAN	eukaryotic translation initiation factor 4E binding protein 2	62					cAMP-mediated signaling (GO:0019933)|insulin receptor signaling pathway (GO:0008286)|negative regulation of translational initiation (GO:0045947)|translation (GO:0006412)					large_intestine(1)	1						CTGTTGGATCGTCGCAATTCT	0.433																																						ENST00000373218.4																			0				large_intestine(1)	1						c.(184-186)cGt>cCt		eukaryotic translation initiation factor 4E binding protein 2							99.0	100.0	99.0					10																	72179709		2203	4300	6503	SO:0001583	missense	1979				negative regulation of translational initiation|translation		eukaryotic initiation factor 4E binding	g.chr10:72179709G>C		CCDS7303.1	10q21-q22	2008-08-01			ENSG00000148730	ENSG00000148730			3289	protein-coding gene	gene with protein product		602224				7935836, 8975712	Standard	NM_004096		Approved		uc001jrb.3	Q13542	OTTHUMG00000018409	ENST00000373218.4:c.185G>C	10.37:g.72179709G>C	ENSP00000362314:p.Arg62Pro						p.R62P	NM_004096.4	NP_004087.1	Q13542	4EBP2_HUMAN			2	208	+			62						Missense_Mutation	SNP	ENST00000373218.4	37	c.185G>C	CCDS7303.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628140	0.87560	.	.	ENSG00000148730	ENST00000373218	.	.	.	5.56	4.66	0.58398	.	0.047741	0.85682	D	0.000000	T	0.68274	0.2983	L	0.56769	1.78	0.58432	D	0.999999	D	0.61697	0.99	P	0.59357	0.856	T	0.71258	-0.4646	9	0.59425	D	0.04	-6.3829	13.7427	0.62857	0.0756:0.0:0.9244:0.0	.	62	Q13542	4EBP2_HUMAN	P	62	.	ENSP00000362314:R62P	R	+	2	0	EIF4EBP2	71849715	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.117000	0.94347	1.498000	0.48600	0.650000	0.86243	CGT		0.433	EIF4EBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048513.1	NM_004096		63	398	0	0	0	1	0	63	398				
NPAS2	4862	broad.mit.edu	37	2	101592029	101592029	+	Splice_Site	SNP	G	G	A	rs182348570		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:101592029G>A	ENST00000335681.5	+	14	1677	c.1392G>A	c.(1390-1392)ccG>ccA	p.P464P	NPAS2_ENST00000542504.1_Splice_Site_p.P529P|AC016738.3_ENST00000439150.1_RNA|AC016738.3_ENST00000433012.1_RNA|AC016738.3_ENST00000446644.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	464					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCACCATGCCGGTAAGTGTGT	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16138	0.0		0.0	False		,,,				2504	0.0					ENST00000335681.5																			0				cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.e14+1		neuronal PAS domain protein 2							65.0	62.0	63.0					2																	101592029		2203	4300	6503	SO:0001630	splice_region_variant	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101592029G>A	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1392+1G>A	2.37:g.101592029G>A						AC016738.3_ENST00000446644.1_RNA|NPAS2_ENST00000542504.1_Splice_Site_p.P529_splice|AC016738.3_ENST00000439150.1_RNA	p.P464_splice	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN			14	1677	+			464					Q4ZFV9|Q53SQ3|Q86V96|Q99629	Splice_Site	SNP	ENST00000335681.5	37	c.1392_splice	CCDS2048.1																																																																																				0.622	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3		Silent	6	502	0	0	0	1	0	6	502				
NPRL3	8131	broad.mit.edu	37	16	148217	148217	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:148217G>A	ENST00000399953.3	-	8	1252	c.850C>T	c.(850-852)Cgg>Tgg	p.R284W	NPRL3_ENST00000399951.3_Missense_Mutation_p.R105W|NPRL3_ENST00000405960.3_5'UTR	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	284					aorta morphogenesis (GO:0035909)|cardiac muscle tissue development (GO:0048738)|palate development (GO:0060021)|ventricular septum development (GO:0003281)		GTPase activator activity (GO:0005096)			endometrium(1)|large_intestine(3)|ovary(2)	6						TTGATCACCCGCACTAGGGCA	0.572																																						ENST00000399953.3																			0				endometrium(1)|large_intestine(3)|ovary(2)	6						c.(850-852)Cgg>Tgg		nitrogen permease regulator-like 3 (S. cerevisiae)							73.0	78.0	76.0					16																	148217		2110	4229	6339	SO:0001583	missense	8131						protein binding	g.chr16:148217G>A		CCDS73794.1, CCDS73795.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000103148	ENSG00000103148			14124	protein-coding gene	gene with protein product	"""conserved gene telomeric to alpha globin cluster"""	600928	"""chromosome 16 open reading frame 35"""	C16orf35		8575760	Standard	NM_001243247		Approved	CGTHBA, RMD11, NPR3, MARE, HS-40	uc002cfr.3	Q12980	OTTHUMG00000047792	ENST00000399953.3:c.850C>T	16.37:g.148217G>A	ENSP00000382834:p.Arg284Trp					NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Missense_Mutation_p.R105W	p.R284W	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN			8	1252	-			284					D3DU40|Q1W6H0|Q4TT56|Q92469	Missense_Mutation	SNP	ENST00000399953.3	37	c.850C>T		.	.	.	.	.	.	.	.	.	.	G	22.4	4.285845	0.80803	.	.	ENSG00000103148	ENST00000399953;ENST00000262313;ENST00000399951	.	.	.	5.62	3.57	0.40892	.	0.000000	0.85682	D	0.000000	T	0.75302	0.3831	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.991;0.991	T	0.76884	-0.2794	8	0.87932	D	0	-9.7056	9.6359	0.39806	0.0:0.1118:0.6119:0.2763	.	206;259;259;284	B7Z220;Q4TT55;B7Z6Q0;Q12980	.;.;.;NPRL3_HUMAN	W	284;259;105	.	ENSP00000262313:R259W	R	-	1	2	NPRL3	88217	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	4.016000	0.57159	2.653000	0.90120	0.655000	0.94253	CGG		0.572	NPRL3-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001039476		6	413	0	0	0	1	0	6	413				
RARRES3	5920	broad.mit.edu	37	11	63312120	63312120	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:63312120G>A	ENST00000255688.3	+	3	194	c.146G>A	c.(145-147)aGt>aAt	p.S49N	RARRES3_ENST00000354445.2_Missense_Mutation_p.S49N|RARRES3_ENST00000439013.2_Missense_Mutation_p.S49N|RARRES3_ENST00000537871.1_3'UTR	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	49					lipid catabolic process (GO:0016042)|negative regulation of cell proliferation (GO:0008285)|phospholipid metabolic process (GO:0006644)	integral component of membrane (GO:0016021)	phospholipase A2 activity (GO:0004623)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						GGCTCCTCCAGTGTCTTCTCA	0.567																																						ENST00000439013.2																			0				kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(145-147)aGt>aAt		retinoic acid receptor responder (tazarotene induced) 3							130.0	138.0	135.0					11																	63312120		1950	4144	6094	SO:0001583	missense	5920				lipid catabolic process|negative regulation of cell proliferation		hydrolase activity	g.chr11:63312120G>A		CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321			9869	protein-coding gene	gene with protein product		605092				9270552	Standard	NM_004585		Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000255688.3:c.146G>A	11.37:g.63312120G>A	ENSP00000255688:p.Ser49Asn					RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000255688.3_Missense_Mutation_p.S49N|RARRES3_ENST00000354445.2_Missense_Mutation_p.S49N	p.S49N			Q9UL19	TIG3_HUMAN			3	199	+			49					B2R599|B4DDW2|E7ENZ7|O95200	Missense_Mutation	SNP	ENST00000255688.3	37	c.146G>A	CCDS41662.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.385443	0.42308	.	.	ENSG00000133321	ENST00000439013;ENST00000255688;ENST00000354445	T;T;T	0.24908	1.83;1.83;1.83	4.29	-3.33	0.04958	.	0.677062	0.13847	N	0.358591	T	0.26159	0.0638	M	0.87547	2.89	0.09310	N	1	B	0.25206	0.12	B	0.26094	0.066	T	0.40572	-0.9556	10	0.62326	D	0.03	.	1.3662	0.02202	0.301:0.276:0.2986:0.1245	.	49	Q9UL19	TIG3_HUMAN	N	49	ENSP00000402943:S49N;ENSP00000255688:S49N;ENSP00000346431:S49N	ENSP00000255688:S49N	S	+	2	0	RARRES3	63068696	0.977000	0.34250	0.000000	0.03702	0.008000	0.06430	1.927000	0.40094	-0.643000	0.05473	0.655000	0.94253	AGT		0.567	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396629.1			27	1091	0	0	0	1	0	27	1091				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		17	241	0	0	0	1	0	17	241				
MAGEC2	51438	broad.mit.edu	37	X	141291654	141291654	+	Silent	SNP	G	G	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:141291654G>T	ENST00000247452.3	-	3	467	c.120C>A	c.(118-120)tcC>tcA	p.S40S		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	40	Ser-rich.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					AAGAGGCGGAGGAGGCTTCCT	0.522										HNSCC(46;0.14)																												ENST00000247452.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47						c.(118-120)tcC>tcA		melanoma antigen family C, 2							118.0	117.0	117.0					X																	141291654		2203	4300	6503	SO:0001819	synonymous_variant	51438					cytoplasm|nucleus		g.chrX:141291654G>T	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.120C>A	X.37:g.141291654G>T		HNSCC(46;0.14)					p.S40S	NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN			3	467	-	Acute lymphoblastic leukemia(192;6.56e-05)		40			Ser-rich.		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Silent	SNP	ENST00000247452.3	37	c.120C>A	CCDS14678.1																																																																																				0.522	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		53	793	1	0	2.47907e-22	1	2.64262e-22	53	793				
ANKRD30BL	554226	broad.mit.edu	37	2	132912316	132912316	+	Missense_Mutation	SNP	G	G	A	rs200558206		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:132912316G>A	ENST00000409867.1	-	4	782	c.533C>T	c.(532-534)gCc>gTc	p.A178V	ANKRD30BL_ENST00000470729.1_5'UTR|RNU6-1132P_ENST00000459214.1_RNA			A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like	178								p.A178V(2)		endometrium(1)|kidney(3)	4						TTTCCTTATGGCCAGTAAAAG	0.294																																						ENST00000409867.1																			2	Substitution - Missense(2)	p.A178V(2)	kidney(2)	endometrium(1)|kidney(3)	4						c.(532-534)gCc>gTc		ankyrin repeat domain 30B-like																																				SO:0001583	missense	554226							g.chr2:132912316G>A			2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000409867.1:c.533C>T	2.37:g.132912316G>A	ENSP00000386398:p.Ala178Val					ANKRD30BL_ENST00000470729.1_5'UTR	p.A178V							4	782	-								B8ZZL7	Missense_Mutation	SNP	ENST00000409867.1	37	c.533C>T		.	.	.	.	.	.	.	.	.	.	.	14.64	2.594656	0.46214	.	.	ENSG00000163046	ENST00000409867	T	0.61627	0.09	0.569	0.569	0.17340	.	.	.	.	.	T	0.54046	0.1834	.	.	.	0.23581	N	0.997362	.	.	.	.	.	.	T	0.51228	-0.8732	5	0.66056	D	0.02	.	.	.	.	.	.	.	.	V	178	ENSP00000386398:A178V	ENSP00000295181:A178V	A	-	2	0	ANKRD30BL	132628786	0.014000	0.17966	0.261000	0.24466	0.477000	0.33069	0.281000	0.18810	0.567000	0.29293	0.184000	0.17185	GCC		0.294	ANKRD30BL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331353.2	NR_027019		6	31	0	0	0	1	0	6	31				
ALG1L	200810	broad.mit.edu	37	3	125647396	125647396	+	IGR	SNP	T	T	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:125647396T>C	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						TGTTTCCCTATGAAGAGCACT	0.502																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:125647396T>C	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647396T>C								NR_024251.1						0	541	+								D3DNA5	RNA	SNP	ENST00000340333.3	37		CCDS33840.1																																																																																				0.502	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		11	819	0	0	0	1	0	11	819				
TTN	7273	broad.mit.edu	37	2	179418445	179418445	+	Missense_Mutation	SNP	C	C	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:179418445C>A	ENST00000591111.1	-	284	84588	c.84364G>T	c.(84364-84366)Ggc>Tgc	p.G28122C	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G29763C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G27195C|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G20890C|TTN_ENST00000359218.5_Missense_Mutation_p.G20823C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G20698C			Q8WZ42	TITIN_HUMAN	titin	28122	Fibronectin type-III 105. {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)			ACAGCACTGCCCCCATCATAG	0.483																																						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.(89287-89289)Ggc>Tgc		titin							83.0	83.0	83.0					2																	179418445		2032	4193	6225	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179418445C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.84364G>T	2.37:g.179418445C>A	ENSP00000465570:p.Gly28122Cys					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G28122C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G20890C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G20823C|TTN_ENST00000460472.2_Missense_Mutation_p.G20698C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G27195C|TTN-AS1_ENST00000438095.1_RNA	p.G29763C	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)		334	89511	-			28122					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.89287G>T		.	.	.	.	.	.	.	.	.	.	C	20.1	3.939712	0.73557	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	5.6	5.6	0.85130	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84297	0.5441	H	0.95079	3.62	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.88293	0.2944	9	0.87932	D	0	.	19.9823	0.97331	0.0:1.0:0.0:0.0	.	20698;20823;20890;28122	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	27195;20698;20890;20823;20695	ENSP00000343764:G27195C;ENSP00000434586:G20698C;ENSP00000340554:G20890C;ENSP00000352154:G20823C	ENSP00000340554:G20890C	G	-	1	0	TTN	179126691	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.788000	0.95919	0.650000	0.86243	GGC		0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	306	1	0	0.248553	1	0.248553	6	306				
TRIM37	4591	broad.mit.edu	37	17	57093004	57093004	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:57093004G>A	ENST00000262294.7	-	21	2802	c.2543C>T	c.(2542-2544)gCg>gTg	p.A848V	TRIM37_ENST00000393065.2_Missense_Mutation_p.A814V|TRIM37_ENST00000376149.3_Missense_Mutation_p.A726V|TRIM37_ENST00000393066.3_Missense_Mutation_p.A848V	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	848					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A848V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTTCTCAACCGCAGGCAAGCC	0.398									Mulibrey Nanism																													ENST00000376149.3																			1	Substitution - Missense(1)	p.A848V(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2176-2178)gCg>gTg		tripartite motif containing 37							125.0	133.0	130.0					17																	57093004		2203	4300	6503	SO:0001583	missense	4591	Mulibrey Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57093004G>A	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.2543C>T	17.37:g.57093004G>A	ENSP00000262294:p.Ala848Val					TRIM37_ENST00000262294.7_Missense_Mutation_p.A848V|TRIM37_ENST00000393066.3_Missense_Mutation_p.A848V|TRIM37_ENST00000393065.2_Missense_Mutation_p.A814V	p.A726V			O94972	TRI37_HUMAN			21	2986	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		848					Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	c.2177C>T	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.661961	0.29515	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	4.93	2.9	0.33743	.	0.843050	0.10578	N	0.658234	T	0.21267	0.0512	N	0.24115	0.695	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.17531	-1.0366	10	0.48119	T	0.1	-0.0368	9.163	0.37035	0.1801:0.0:0.8199:0.0	.	814;726;848	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	V	848;848;726;814	ENSP00000376785:A848V;ENSP00000262294:A848V;ENSP00000365319:A726V;ENSP00000376784:A814V	ENSP00000262294:A848V	A	-	2	0	TRIM37	54447786	0.197000	0.23362	0.437000	0.26809	0.721000	0.41392	1.507000	0.35758	1.082000	0.41137	0.313000	0.20887	GCG		0.398	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		7	792	0	0	0	1	0	7	792				
STXBP5	134957	broad.mit.edu	37	6	147680320	147680320	+	Silent	SNP	G	G	A	rs142207202		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:147680320G>A	ENST00000321680.6	+	23	2406	c.2406G>A	c.(2404-2406)acG>acA	p.T802T	STXBP5_ENST00000367481.3_Silent_p.T766T|STXBP5_ENST00000367480.3_Silent_p.T749T|STXBP5_ENST00000179882.6_Silent_p.T457T	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	802					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TCTGTGAAACGTTTACTCGAA	0.488																																						ENST00000367481.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(2296-2298)acG>acA		syntaxin binding protein 5 (tomosyn)		A	,	1,4405	826.1+/-416.6	0,1,2202	113.0	107.0	109.0		2406,2298	-8.6	0.0	6	dbSNP_134	109	3,8597	819.1+/-406.8	0,3,4297	yes	coding-synonymous,coding-synonymous	STXBP5	NM_001127715.2,NM_139244.4	,	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	,	802/1152,766/1116	147680320	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	0				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147680320G>A	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.2406G>A	6.37:g.147680320G>A						STXBP5_ENST00000179882.6_Silent_p.T457T|STXBP5_ENST00000367480.3_Silent_p.T749T|STXBP5_ENST00000321680.6_Silent_p.T802T	p.T766T	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	21	2406	+		Ovarian(120;0.0164)	802					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Silent	SNP	ENST00000321680.6	37	c.2298G>A	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	A	0.141	-1.102263	0.01828	2.27E-4	3.49E-4	ENSG00000164506	ENST00000367475	.	.	.	5.46	-8.64	0.00874	.	.	.	.	.	T	0.17959	0.0431	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38457	-0.9660	4	.	.	.	.	3.0411	0.06139	0.2097:0.1742:0.4436:0.1725	.	.	.	.	I	128	.	.	V	+	1	0	STXBP5	147722013	0.026000	0.19158	0.003000	0.11579	0.052000	0.14988	-0.885000	0.04161	-2.023000	0.00937	-2.952000	0.00084	GTT		0.488	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			37	324	0	0	0	1	0	37	324				
HMHA1	23526	broad.mit.edu	37	19	1073163	1073163	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:1073163G>A	ENST00000313093.2	+	3	668	c.437G>A	c.(436-438)cGc>cAc	p.R146H	HMHA1_ENST00000592335.1_Missense_Mutation_p.A27T|HMHA1_ENST00000590214.1_Missense_Mutation_p.R173H|HMHA1_ENST00000539243.2_Missense_Mutation_p.R162H|HMHA1_ENST00000536472.1_5'UTR|HMHA1_ENST00000543365.1_Missense_Mutation_p.R29H|HMHA1_ENST00000586866.1_Missense_Mutation_p.R150H	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	146					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGAGGCCCGCCGCCCGCGG	0.642																																						ENST00000313093.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.(436-438)cGc>cAc		histocompatibility (minor) HA-1							37.0	45.0	43.0					19																	1073163		2199	4295	6494	SO:0001583	missense	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1073163G>A	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.437G>A	19.37:g.1073163G>A	ENSP00000316772:p.Arg146His					HMHA1_ENST00000543365.1_Missense_Mutation_p.R29H|HMHA1_ENST00000586866.1_Missense_Mutation_p.R150H|HMHA1_ENST00000590214.1_Missense_Mutation_p.R173H|HMHA1_ENST00000536472.1_5'UTR|HMHA1_ENST00000539243.2_Missense_Mutation_p.R162H|HMHA1_ENST00000592335.1_Missense_Mutation_p.A27T	p.R146H	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	668	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	146					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	c.437G>A	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225757	0.39300	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000412039;ENST00000543365	T;T;T	0.25085	1.96;1.96;1.82	4.16	4.16	0.48862	.	0.068586	0.64402	D	0.000017	T	0.43100	0.1232	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	P;D;P	0.68765	0.878;0.96;0.862	T	0.27054	-1.0085	10	0.45353	T	0.12	-29.6413	9.9138	0.41421	0.1043:0.0:0.8957:0.0	.	162;29;146	F6QP70;F5H1R4;Q92619	.;.;HMHA1_HUMAN	H	162;146;146;140;29	ENSP00000439601:R162H;ENSP00000316772:R146H;ENSP00000438979:R29H	ENSP00000316772:R146H	R	+	2	0	HMHA1	1024163	1.000000	0.71417	0.997000	0.53966	0.498000	0.33706	3.603000	0.54074	1.855000	0.53841	0.491000	0.48974	CGC		0.642	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			7	623	0	0	0	1	0	7	623				
PHACTR1	221692	broad.mit.edu	37	6	13206143	13206143	+	Missense_Mutation	SNP	C	C	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:13206143C>A	ENST00000379350.1	+	7	890	c.761C>A	c.(760-762)cCa>cAa	p.P254Q	PHACTR1_ENST00000457702.2_Missense_Mutation_p.P109Q|PHACTR1_ENST00000332995.7_Missense_Mutation_p.P254Q|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	254					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)			GTGGGGGGGCCAGACCTCTCA	0.602																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(760-762)cCa>cAa		phosphatase and actin regulator 1							54.0	63.0	60.0					6																	13206143		2015	4156	6171	SO:0001583	missense	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13206143C>A	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.761C>A	6.37:g.13206143C>A	ENSP00000368655:p.Pro254Gln					PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Missense_Mutation_p.P109Q|PHACTR1_ENST00000332995.7_Missense_Mutation_p.P254Q	p.P254Q			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		7	890	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	254					A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379350.1	37	c.761C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.984897|3.984897	0.74474|0.74474	.|.	.|.	ENSG00000112137|ENSG00000112137	ENST00000379350;ENST00000332995;ENST00000432934;ENST00000457702|ENST00000415087	T;T;T|.	0.31510|.	1.49;1.53;1.52|.	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	0.598284|.	0.18257|.	N|.	0.146764|.	T|T	0.37489|0.37489	0.1005|0.1005	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	D;P;P|.	0.61697|.	0.99;0.838;0.899|.	P;B;B|.	0.58780|.	0.845;0.276;0.367|.	T|T	0.29119|0.29119	-1.0022|-1.0022	10|5	0.15499|.	T|.	0.54|.	-7.9901|-7.9901	17.722|17.722	0.88355|0.88355	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	323;254;254|.	E7ESR5;Q9C0D0;Q9C0D0-2|.	.;PHAR1_HUMAN;.|.	Q|K	254;254;323;109|89	ENSP00000368655:P254Q;ENSP00000329880:P254Q;ENSP00000397669:P109Q|.	ENSP00000329880:P254Q|.	P|Q	+|+	2|1	0|0	PHACTR1|PHACTR1	13314122|13314122	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.973000|0.973000	0.67179|0.67179	3.146000|3.146000	0.50631|0.50631	2.653000|2.653000	0.90120|0.90120	0.561000|0.561000	0.74099|0.74099	CCA|CAG		0.602	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		83	357	1	0	2.36143e-25	1	2.52599e-25	83	357				
NFE2L1	4779	broad.mit.edu	37	17	46136986	46136986	+	Missense_Mutation	SNP	A	A	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:46136986A>G	ENST00000362042.3	+	6	2918	c.2302A>G	c.(2302-2304)Aag>Gag	p.K768E	NFE2L1_ENST00000357480.5_Missense_Mutation_p.K738E|NFE2L1_ENST00000361665.3_Missense_Mutation_p.K757E|NFE2L1_ENST00000536222.1_Missense_Mutation_p.K612E|NFE2L1_ENST00000585291.1_Missense_Mutation_p.K738E|NFE2L1_ENST00000582155.1_Missense_Mutation_p.K580E|RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000583378.1_Missense_Mutation_p.K569E	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	768					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GAGGAAGCCAAAGGACCGGAG	0.647																																						ENST00000362042.3																			0				cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2302-2304)Aag>Gag		nuclear factor, erythroid 2-like 1							23.0	27.0	26.0					17																	46136986		2203	4298	6501	SO:0001583	missense	4779				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr17:46136986A>G	AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.2302A>G	17.37:g.46136986A>G	ENSP00000354855:p.Lys768Glu					NFE2L1_ENST00000582155.1_Missense_Mutation_p.K580E|NFE2L1_ENST00000583378.1_Missense_Mutation_p.K569E|NFE2L1_ENST00000585291.1_Missense_Mutation_p.K738E|NFE2L1_ENST00000536222.1_Missense_Mutation_p.K612E|NFE2L1_ENST00000361665.3_Missense_Mutation_p.K757E|NFE2L1_ENST00000357480.5_Missense_Mutation_p.K738E	p.K768E	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN			6	2918	+			768					D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	ENST00000362042.3	37	c.2302A>G	CCDS11524.1	.	.	.	.	.	.	.	.	.	.	A	18.91	3.723743	0.68959	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	T;T	0.29142	1.9;1.58	5.89	5.89	0.94794	.	0.220853	0.48767	D	0.000174	T	0.47655	0.1457	L	0.43923	1.385	0.54753	D	0.999983	D;D;D;D	0.71674	0.994;0.989;0.958;0.998	P;P;P;D	0.75484	0.885;0.709;0.827;0.986	T	0.44847	-0.9301	10	0.66056	D	0.02	-12.13	13.8341	0.63400	1.0:0.0:0.0:0.0	.	612;580;738;768	F5H1B7;B4DYE1;Q14494-2;Q14494	.;.;.;NF2L1_HUMAN	E	787;768;738;612	ENSP00000350072:K738E;ENSP00000445811:K612E	ENSP00000350072:K738E	K	+	1	0	NFE2L1	43491985	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.390000	0.79816	2.257000	0.74773	0.460000	0.39030	AAG		0.647	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204		15	187	0	0	0	1	0	15	187				
GOT2	2806	broad.mit.edu	37	16	58743428	58743428	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:58743428G>A	ENST00000245206.5	-	9	1191	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	GOT2_ENST00000434819.2_Missense_Mutation_p.R312W	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	355					2-oxoglutarate metabolic process (GO:0006103)|4-hydroxyproline catabolic process (GO:0019470)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid transport (GO:0015908)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|oxaloacetate metabolic process (GO:0006107)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)	p.R355W(2)|p.R355G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)	AGTTGAGTCCGCATGCCAATG	0.507																																						ENST00000245206.5																			3	Substitution - Missense(3)	p.R355W(2)|p.R355G(1)	prostate(1)|lung(1)|endometrium(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22						c.(1063-1065)Cgg>Tgg		glutamic-oxaloacetic transaminase 2, mitochondrial	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						222.0	211.0	215.0					16																	58743428		2198	4300	6498	SO:0001583	missense	2806				aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding	g.chr16:58743428G>A		CCDS10801.1, CCDS67045.1	16q21	2013-05-29	2013-05-29		ENSG00000125166	ENSG00000125166	2.6.1.1		4433	protein-coding gene	gene with protein product	"""kynurenine aminotransferase IV"", ""aspartate aminotransferase 2"", ""aspartate transaminase 2"""	138150	"""glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)"""			17442055	Standard	NM_002080		Approved	mitAAT, KATIV, KAT4	uc002eof.1	P00505	OTTHUMG00000133769	ENST00000245206.5:c.1063C>T	16.37:g.58743428G>A	ENSP00000245206:p.Arg355Trp					GOT2_ENST00000434819.2_Missense_Mutation_p.R312W	p.R355W	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN			9	1191	-			355					B4DJA6|E7ERW2|Q53FL3|Q9BWA3	Missense_Mutation	SNP	ENST00000245206.5	37	c.1063C>T	CCDS10801.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418094	0.62622	.	.	ENSG00000125166	ENST00000245206;ENST00000434819	T;T	0.34275	1.37;1.37	5.31	0.557	0.17260	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.70684	0.3252	H	0.98754	4.32	0.80722	D	1	D;D	0.89917	0.996;1.0	P;D	0.85130	0.874;0.997	T	0.76583	-0.2906	9	.	.	.	-0.235	9.3835	0.38329	0.0714:0.0:0.526:0.4025	.	312;355	E7ERW2;P00505	.;AATM_HUMAN	W	355;312	ENSP00000245206:R355W;ENSP00000394100:R312W	.	R	-	1	2	GOT2	57300929	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	1.345000	0.33953	0.584000	0.29591	-0.128000	0.14901	CGG		0.507	GOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258289.3			7	1155	0	0	0	1	0	7	1155				
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:43587730A>C	ENST00000579913.1	-	0	1394				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTATTGATTCATTTTATTCAT	0.343																																						ENST00000253803.2																			0																																																			0							g.chr17:43587730A>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587730A>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.343	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		11	259	0	0	0	1	0	11	259				
PCDHB11	56125	broad.mit.edu	37	5	140581503	140581503	+	Missense_Mutation	SNP	C	C	T	rs200787309		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:140581503C>T	ENST00000354757.3	+	1	2156	c.2156C>T	c.(2155-2157)gCg>gTg	p.A719V	PCDHB11_ENST00000536699.1_Missense_Mutation_p.A354V	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	719					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAGCAGGGCGGCCTCGGTG	0.652																																						ENST00000354757.3																			0				NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63						c.(2155-2157)gCg>gTg				C	VAL/ALA	0,4406		0,0,2203	94.0	103.0	100.0		2156	0.7	0.0	5		100	2,8598	1.2+/-3.3	0,2,4298	no	missense	PCDHB11	NM_018931.2	64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	719/798	140581503	2,13004	2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140581503C>T	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.2156C>T	5.37:g.140581503C>T	ENSP00000346802:p.Ala719Val					PCDHB11_ENST00000536699.1_Missense_Mutation_p.A354V	p.A719V	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2156	+			719					B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.2156C>T	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	c	12.20	1.867239	0.32977	0.0	2.33E-4	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.17528	2.27;2.27	2.77	0.731	0.18277	.	.	.	.	.	T	0.19846	0.0477	M	0.88031	2.925	0.09310	N	1	P	0.36599	0.56	B	0.22880	0.042	T	0.14952	-1.0454	9	0.72032	D	0.01	.	6.2507	0.20843	0.2201:0.5842:0.1957:0.0	.	719	Q9Y5F2	PCDBB_HUMAN	V	354;719	ENSP00000440344:A354V;ENSP00000346802:A719V	ENSP00000346802:A719V	A	+	2	0	PCDHB11	140561687	0.000000	0.05858	0.004000	0.12327	0.229000	0.25112	-0.444000	0.06854	0.020000	0.15106	0.549000	0.68633	GCG		0.652	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		165	962	0	0	0	1	0	165	962				
VPS37D	155382	broad.mit.edu	37	7	73085559	73085559	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:73085559C>T	ENST00000324941.4	+	4	743	c.609C>T	c.(607-609)gcC>gcT	p.A203A	VPS37D_ENST00000451519.1_Silent_p.A118A	NM_001077621.1	NP_001071089.1			vacuolar protein sorting 37 homolog D (S. cerevisiae)											central_nervous_system(1)|ovary(1)	2		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCACTGGGGCCGCCCGGGGGC	0.766																																						ENST00000324941.4																			0				central_nervous_system(1)|ovary(1)	2						c.(607-609)gcC>gcT		vacuolar protein sorting 37 homolog D (S. cerevisiae)							4.0	5.0	5.0					7																	73085559		1415	3308	4723	SO:0001819	synonymous_variant	155382				cellular membrane organization|endosome transport|protein transport	late endosome membrane		g.chr7:73085559C>T	AY081952	CCDS43596.1	7q11.23	2007-07-27	2006-04-04	2005-08-18	ENSG00000176428	ENSG00000176428			18287	protein-coding gene	gene with protein product		610039	"""Williams Beuren syndrome chromosome region 24"", ""vacuolar protein sorting 37D (yeast)"""	WBSCR24		15218037	Standard	NM_001077621		Approved	MGC35352	uc003tyr.3	Q86XT2	OTTHUMG00000157227	ENST00000324941.4:c.609C>T	7.37:g.73085559C>T						VPS37D_ENST00000451519.1_Silent_p.A118A	p.A203A	NM_001077621.1	NP_001071089.1	Q86XT2	VP37D_HUMAN			4	743	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	203						Silent	SNP	ENST00000324941.4	37	c.609C>T	CCDS43596.1																																																																																				0.766	VPS37D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348064.1	NM_152560		4	66	0	0	0	1	0	4	66				
EPHB4	2050	broad.mit.edu	37	7	100402884	100402884	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:100402884C>T	ENST00000358173.3	-	16	3206	c.2738G>A	c.(2737-2739)gGc>gAc	p.G913D	EPHB4_ENST00000360620.3_Intron	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	913	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					AAGCCACTCGCCCACAGAGCC	0.587																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(2737-2739)gGc>gAc		EPH receptor B4							33.0	32.0	33.0					7																	100402884		2203	4300	6503	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100402884C>T	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2738G>A	7.37:g.100402884C>T	ENSP00000350896:p.Gly913Asp					EPHB4_ENST00000360620.3_Intron	p.G913D	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			16	3206	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		913			SAM.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.2738G>A	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.549037	0.65311	.	.	ENSG00000196411	ENST00000358173	T	0.51325	0.71	5.07	5.07	0.68467	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.51477	D	0.000085	T	0.53334	0.1790	L	0.33624	1.015	0.47374	D	0.999405	D	0.61080	0.989	P	0.59357	0.856	T	0.48328	-0.9045	10	0.32370	T	0.25	.	15.9362	0.79712	0.0:1.0:0.0:0.0	.	913	P54760	EPHB4_HUMAN	D	913	ENSP00000350896:G913D	ENSP00000350896:G913D	G	-	2	0	EPHB4	100240820	0.999000	0.42202	0.987000	0.45799	0.985000	0.73830	4.063000	0.57499	2.372000	0.80975	0.561000	0.74099	GGC		0.587	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		26	127	0	0	0	1	0	26	127				
F5	2153	broad.mit.edu	37	1	169510502	169510502	+	Missense_Mutation	SNP	G	G	T	rs140018525		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	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		11	2166	1	0	0.0215528	1	0.0217655	11	2166				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		27	318	0	0	0	1	0	27	318				
JMY	133746	broad.mit.edu	37	5	78610479	78610479	+	Missense_Mutation	SNP	C	C	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:78610479C>A	ENST00000396137.4	+	9	2926	c.2464C>A	c.(2464-2466)Cca>Aca	p.P822T	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	822	Pro-rich.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		ccctcccccaccaccaccacc	0.542																																						ENST00000396137.4																			0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(2464-2466)Cca>Aca		junction mediating and regulatory protein, p53 cofactor																																				SO:0001583	missense	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78610479C>A	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2464C>A	5.37:g.78610479C>A	ENSP00000379441:p.Pro822Thr					JMY_ENST00000412001.1_Intron	p.P822T	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	9	2926	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	822			Pro-rich.		A1L4P5|B5MDS2|B5MDT0	Missense_Mutation	SNP	ENST00000396137.4	37	c.2464C>A	CCDS4047.3	.	.	.	.	.	.	.	.	.	.	C	11.44	1.639613	0.29157	.	.	ENSG00000152409	ENST00000396137	D	0.89681	-2.55	4.69	3.8	0.43715	.	0.692508	0.13482	N	0.384606	D	0.93400	0.7895	M	0.70275	2.135	0.45837	D	0.998707	D	0.89917	1.0	D	0.91635	0.999	D	0.90329	0.4350	10	0.29301	T	0.29	.	14.3113	0.66416	0.0:0.8498:0.1502:0.0	.	822	Q8N9B5	JMY_HUMAN	T	822	ENSP00000379441:P822T	ENSP00000379441:P822T	P	+	1	0	JMY	78646235	1.000000	0.71417	0.009000	0.14445	0.106000	0.19336	4.961000	0.63681	0.930000	0.37217	0.650000	0.86243	CCA		0.542	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	NM_152405		5	130	1	0	0.0215528	1	0.0217655	5	130				
VPS13D	55187	broad.mit.edu	37	1	12371650	12371650	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:12371650C>T	ENST00000358136.3	+	28	6920	c.6790C>T	c.(6790-6792)Cgg>Tgg	p.R2264W	VPS13D_ENST00000356315.4_Missense_Mutation_p.R2264W	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGAATTTATGCGGCCTTATGA	0.438																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(6790-6792)Cgg>Tgg		vacuolar protein sorting 13 homolog D (S. cerevisiae)							145.0	147.0	146.0					1																	12371650		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12371650C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.6790C>T	1.37:g.12371650C>T	ENSP00000350854:p.Arg2264Trp					VPS13D_ENST00000356315.4_Missense_Mutation_p.R2264W	p.R2264W	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	28	6920	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2264						Missense_Mutation	SNP	ENST00000358136.3	37	c.6790C>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771616	0.69992	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.47177	0.85;0.85	5.66	3.75	0.43078	.	0.000000	0.85682	D	0.000000	T	0.65729	0.2719	M	0.68593	2.085	0.80722	D	1	D;P;P	0.89917	1.0;0.794;0.691	D;B;B	0.87578	0.998;0.277;0.143	T	0.67841	-0.5566	10	0.66056	D	0.02	.	13.738	0.62829	0.4045:0.5955:0.0:0.0	.	171;2264;2264	B1AJZ2;Q5THJ4-2;Q5THJ4	.;.;VP13D_HUMAN	W	2264	ENSP00000348666:R2264W;ENSP00000350854:R2264W	ENSP00000348666:R2264W	R	+	1	2	VPS13D	12294237	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.322000	0.43814	0.711000	0.32018	0.563000	0.77884	CGG		0.438	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		6	721	0	0	0	1	0	6	721				
CNNM4	26504	broad.mit.edu	37	2	97463316	97463316	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:97463316C>T	ENST00000377075.2	+	3	1711	c.1613C>T	c.(1612-1614)gCg>gTg	p.A538V	CNNM4_ENST00000540067.1_Missense_Mutation_p.A25V|MIR3127_ENST00000583925.1_RNA|CNNM4_ENST00000496186.1_3'UTR	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	538					biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						TTCAAGGATGCGGACAATGAG	0.562																																						ENST00000377075.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						c.(1612-1614)gCg>gTg		cyclin M4							75.0	69.0	71.0					2																	97463316		2203	4300	6503	SO:0001583	missense	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97463316C>T	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1613C>T	2.37:g.97463316C>T	ENSP00000366275:p.Ala538Val					CNNM4_ENST00000540067.1_Missense_Mutation_p.A25V|CNNM4_ENST00000496186.1_3'UTR	p.A538V	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN			3	1711	+			538					B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	37	c.1613C>T	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899383	0.33535	.	.	ENSG00000158158	ENST00000377075;ENST00000540067	T	0.72505	-0.66	5.25	5.25	0.73442	.	0.737333	0.12913	N	0.428840	T	0.61350	0.2340	L	0.40543	1.245	0.18873	N	0.999981	P;B	0.47841	0.901;0.065	B;B	0.37601	0.254;0.01	T	0.59408	-0.7460	10	0.51188	T	0.08	-2.8163	13.5984	0.62004	0.156:0.844:0.0:0.0	.	25;538	B7Z1U0;Q6P4Q7	.;CNNM4_HUMAN	V	538;25	ENSP00000366275:A538V	ENSP00000366275:A538V	A	+	2	0	CNNM4	96827043	0.002000	0.14202	0.448000	0.26945	0.001000	0.01503	1.755000	0.38379	2.608000	0.88229	0.655000	0.94253	GCG		0.562	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		5	439	0	0	0	1	0	5	439				
ZNRF3	84133	broad.mit.edu	37	22	29439358	29439358	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:29439358G>A	ENST00000544604.2	+	4	748	c.573G>A	c.(571-573)ctG>ctA	p.L191L	ZNRF3_ENST00000406323.3_Silent_p.L91L|ZNRF3_ENST00000402174.1_Silent_p.L91L|ZNRF3_ENST00000332811.4_Silent_p.L91L	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	191					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CCATTAAGCTGATGAACATCG	0.562																																						ENST00000544604.2																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.(571-573)ctG>ctA		zinc and ring finger 3							98.0	106.0	103.0					22																	29439358		2032	4186	6218	SO:0001819	synonymous_variant	84133					integral to membrane	zinc ion binding	g.chr22:29439358G>A	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.573G>A	22.37:g.29439358G>A						ZNRF3_ENST00000332811.4_Silent_p.L91L|ZNRF3_ENST00000406323.3_Silent_p.L91L|ZNRF3_ENST00000402174.1_Silent_p.L91L	p.L191L	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN			4	748	+			191					B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Silent	SNP	ENST00000544604.2	37	c.573G>A	CCDS56225.1																																																																																				0.562	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		6	428	0	0	0	1	0	6	428				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			8	246	1	0	5.18039e-06	1	5.33685e-06	8	246				
IGDCC3	9543	broad.mit.edu	37	15	65622967	65622967	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr15:65622967G>A	ENST00000327987.4	-	10	1925	c.1674C>T	c.(1672-1674)taC>taT	p.Y558Y	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	558	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTGCTGGGCGGTAAAACAGCT	0.652																																						ENST00000327987.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1672-1674)taC>taT		immunoglobulin superfamily, DCC subclass, member 3							73.0	77.0	76.0					15																	65622967		2201	4299	6500	SO:0001819	synonymous_variant	9543							g.chr15:65622967G>A	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1674C>T	15.37:g.65622967G>A							p.Y558Y	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN			10	1925	-			558			Fibronectin type-III 2.		O95215	Silent	SNP	ENST00000327987.4	37	c.1674C>T	CCDS10205.1																																																																																				0.652	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		5	417	0	0	0	1	0	5	417				
IGSF1	3547	broad.mit.edu	37	X	130411143	130411143	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:130411143G>A	ENST00000361420.3	-	14	2457	c.2378C>T	c.(2377-2379)gCc>gTc	p.A793V	IGSF1_ENST00000370910.1_Missense_Mutation_p.A784V|IGSF1_ENST00000370904.1_Missense_Mutation_p.A784V|IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370903.3_Missense_Mutation_p.A798V			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	793	Ig-like C2-type 8.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AGTCACTCGGGCACCAGGGGT	0.448																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(2350-2352)gCc>gTc		immunoglobulin superfamily, member 1							66.0	74.0	71.0					X																	130411143		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130411143G>A	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.2378C>T	X.37:g.130411143G>A	ENSP00000355010:p.Ala793Val					IGSF1_ENST00000370903.3_Missense_Mutation_p.A798V|IGSF1_ENST00000370910.1_Missense_Mutation_p.A784V|IGSF1_ENST00000361420.3_Missense_Mutation_p.A793V|IGSF1_ENST00000467244.1_5'UTR	p.A784V			Q8N6C5	IGSF1_HUMAN			20	3261	-			793			Ig-like C2-type 8.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.2351C>T	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.674954	0.47781	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.09630	2.96;2.96;2.96;2.96	5.39	3.49	0.39957	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.736301	0.11696	N	0.538458	T	0.07279	0.0184	N	0.08118	0	0.20873	N	0.99984	B;B;B	0.26318	0.001;0.146;0.09	B;B;B	0.32289	0.019;0.143;0.089	T	0.36720	-0.9736	10	0.62326	D	0.03	.	9.5806	0.39486	0.0:0.0:0.6207:0.3793	.	784;237;793	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	V	784;793;784;798	ENSP00000359947:A784V;ENSP00000355010:A793V;ENSP00000359941:A784V;ENSP00000359940:A798V	ENSP00000355010:A793V	A	-	2	0	IGSF1	130238824	0.790000	0.28787	1.000000	0.80357	0.962000	0.63368	1.033000	0.30191	1.156000	0.42514	-0.222000	0.12452	GCC		0.448	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			7	889	0	0	0	1	0	7	889				
SAP18	10284	broad.mit.edu	37	13	21721345	21721345	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr13:21721345C>T	ENST00000607003.1	+	4	358	c.326C>T	c.(325-327)aCc>aTc	p.T109I	SAP18_ENST00000382533.4_Missense_Mutation_p.T128I			O00422	SAP18_HUMAN	Sin3A-associated protein, 18kDa	109	Involved in splicing regulation activity.				mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			kidney(1)|large_intestine(1)|lung(4)	6		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)		ATTGGCAGCACCATGTCTGGC	0.433																																						ENST00000382533.4																			0				kidney(1)|large_intestine(1)|lung(4)	6						c.(382-384)aCc>aTc		Sin3A-associated protein, 18kDa							103.0	102.0	102.0					13																	21721345		2203	4300	6503	SO:0001583	missense	10284				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|plasma membrane	protein binding|transcription corepressor activity	g.chr13:21721345C>T	U96915	CCDS9295.2	13q12.11	2008-02-05	2006-02-02		ENSG00000150459	ENSG00000150459			10530	protein-coding gene	gene with protein product		602949	"""sin3A-associated protein, 18kDa"""			9150135	Standard	NM_005870		Approved	SAP18p, 2HOR0202, MGC27131	uc001uns.3	O00422	OTTHUMG00000016535	ENST00000607003.1:c.326C>T	13.37:g.21721345C>T	ENSP00000475925:p.Thr109Ile					SAP18_ENST00000607003.1_Missense_Mutation_p.T109I	p.T128I	NM_005870.4	NP_005861.2	O00422	SAP18_HUMAN		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)	4	422	+		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)	109					B2R494|Q2TTR4|Q6IAW9|Q8N606|Q9UF14	Missense_Mutation	SNP	ENST00000607003.1	37	c.383C>T		.	.	.	.	.	.	.	.	.	.	C	19.36	3.813017	0.70912	.	.	ENSG00000150459	ENST00000382533	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.75110	0.3805	M	0.69185	2.1	0.80722	D	1	B	0.27823	0.19	B	0.41666	0.363	T	0.70572	-0.4835	9	0.40728	T	0.16	-22.1376	20.2033	0.98269	0.0:1.0:0.0:0.0	.	109	O00422	SAP18_HUMAN	I	128	.	ENSP00000371973:T128I	T	+	2	0	SAP18	20619345	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.640000	0.83355	2.779000	0.95612	0.655000	0.94253	ACC		0.433	SAP18-009	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470725.1	NM_005870		6	601	0	0	0	1	0	6	601				
HIST3H2BB	128312	broad.mit.edu	37	1	228646127	228646127	+	Silent	SNP	T	T	G	rs145799075		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:228646127T>G	ENST00000369160.2	+	1	320	c.297T>G	c.(295-297)gtT>gtG	p.V99V	HIST3H2A_ENST00000366695.2_5'Flank	NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	99					chromatin organization (GO:0006325)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			skin(1)	1		Prostate(94;0.183)				AGACGGCCGTTCGCCTGCTGC	0.652													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17921	0.0		0.0	False		,,,				2504	0.0					ENST00000369160.2																			0				skin(1)	1						c.(295-297)gtT>gtG		histone cluster 3, H2bb		G		3,4403		0,3,2200	57.0	56.0	56.0		297	3.9	1.0	1	dbSNP_134	56	0,8600		0,0,4300	no	coding-synonymous	HIST3H2BB	NM_175055.2		0,3,6500	GG,GT,TT		0.0,0.0681,0.0231		99/127	228646127	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	128312				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:228646127T>G	AY131981	CCDS1574.1	1q42.13	2011-01-27	2006-10-11		ENSG00000196890	ENSG00000196890		"""Histones / Replication-dependent"""	20514	protein-coding gene	gene with protein product		615046	"""histone 3, H2bb"""			12408966	Standard	NM_175055		Approved		uc001hsz.3	Q8N257	OTTHUMG00000040045	ENST00000369160.2:c.297T>G	1.37:g.228646127T>G							p.V99V	NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN			1	320	+		Prostate(94;0.183)	99					A4FU05|Q3ZCP6|Q5TA30	Silent	SNP	ENST00000369160.2	37	c.297T>G	CCDS1574.1																																																																																				0.652	HIST3H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096597.1	NM_175055		7	486	0	0	0	1	0	7	486				
SLC7A14	57709	broad.mit.edu	37	3	170198095	170198095	+	Missense_Mutation	SNP	G	G	A	rs200600060		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:170198095G>A	ENST00000231706.5	-	7	2291	c.1976C>T	c.(1975-1977)gCg>gTg	p.A659V	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	659					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.A659V(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GCACCAGACCGCAAACCGGAT	0.498																																						ENST00000231706.4																			1	Substitution - Missense(1)	p.A659V(1)	lung(1)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53						c.(1975-1977)gCg>gTg		solute carrier family 7, member 14		G	VAL/ALA	0,4406		0,0,2203	101.0	107.0	105.0		1976	4.9	0.9	3		105	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SLC7A14	NM_020949.2	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	659/772	170198095	2,13004	2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170198095G>A	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1976C>T	3.37:g.170198095G>A	ENSP00000231706:p.Ala659Val					CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	p.A659V	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		7	2291	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		659					B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.1976C>T	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.525393	0.44969	0.0	2.33E-4	ENSG00000013293	ENST00000231706	D	0.87103	-2.21	5.81	4.94	0.65067	.	0.154542	0.56097	D	0.000025	T	0.72867	0.3514	N	0.04203	-0.255	0.47065	D	0.999306	B	0.24576	0.106	B	0.15484	0.013	T	0.68349	-0.5432	10	0.25751	T	0.34	.	14.9962	0.71433	0.0683:0.0:0.9317:0.0	.	659	Q8TBB6	S7A14_HUMAN	V	659	ENSP00000231706:A659V	ENSP00000231706:A659V	A	-	2	0	SLC7A14	171680789	1.000000	0.71417	0.906000	0.35671	0.997000	0.91878	7.611000	0.82962	1.455000	0.47813	0.655000	0.94253	GCG		0.498	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		8	789	0	0	0	1	0	8	789				
AQP10	89872	broad.mit.edu	37	1	154295786	154295786	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:154295786C>T	ENST00000324978.3	+	4	480	c.440C>T	c.(439-441)gCc>gTc	p.A147V	AQP10_ENST00000484864.1_Missense_Mutation_p.A147V|ATP8B2_ENST00000368487.3_5'Flank|AQP10_ENST00000355197.4_3'UTR	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	147					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCATTTTTGCCACCTATCCT	0.557																																						ENST00000484864.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(439-441)gCc>gTc		aquaporin 10							116.0	116.0	116.0					1																	154295786		2203	4300	6503	SO:0001583	missense	89872				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	g.chr1:154295786C>T	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.440C>T	1.37:g.154295786C>T	ENSP00000318355:p.Ala147Val					AQP10_ENST00000324978.3_Missense_Mutation_p.A147V|AQP10_ENST00000355197.4_3'UTR	p.A147V			Q96PS8	AQP10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		4	476	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		147					Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	ENST00000324978.3	37	c.440C>T	CCDS1065.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484892	0.84854	.	.	ENSG00000143595	ENST00000324978;ENST00000484864	T;T	0.11930	2.73;2.73	5.04	4.12	0.48240	Aquaporin-like (2);	0.332186	0.32503	N	0.006010	T	0.19406	0.0466	M	0.83312	2.635	0.33617	D	0.604262	D;P	0.54047	0.964;0.912	P;P	0.56127	0.792;0.756	T	0.08722	-1.0708	10	0.87932	D	0	.	8.5573	0.33489	0.0:0.7645:0.1526:0.0828	.	147;147	Q96PS8-2;Q96PS8	.;AQP10_HUMAN	V	147	ENSP00000318355:A147V;ENSP00000420341:A147V	ENSP00000318355:A147V	A	+	2	0	AQP10	152562410	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.810000	0.55613	1.364000	0.46038	0.555000	0.69702	GCC		0.557	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429		7	750	0	0	0	1	0	7	750				
LILRP2	79166	broad.mit.edu	37	19	55221570	55221570	+	RNA	SNP	A	A	C	rs554223424	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:55221570A>C	ENST00000413439.1	+	0	1350									leukocyte immunoglobulin-like receptor pseudogene 2																		TACAGATGCTACGGTGCACAC	0.677													.|||	5	0.000998403	0.0	0.0014	5008	,	,		16629	0.003		0.001	False		,,,				2504	0.0				Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			0							g.chr19:55221570A>C	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55221570A>C														0	1350	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.677	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		7	273	0	0	0	1	0	7	273				
MYT1L	23040	broad.mit.edu	37	2	1921002	1921002	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:1921002C>T	ENST00000399161.2	-	11	2340	c.1593G>A	c.(1591-1593)ccG>ccA	p.P531P	MYT1L_ENST00000428368.2_Silent_p.P529P	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	531					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)	p.P531P(2)		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)		TATCTTTGTGCGGGCATCCGG	0.562																																						ENST00000399161.2																			2	Substitution - coding silent(2)	p.P531P(2)	lung(1)|kidney(1)	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.(1591-1593)ccG>ccA		myelin transcription factor 1-like							192.0	200.0	197.0					2																	1921002		2038	4190	6228	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1921002C>T	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.1593G>A	2.37:g.1921002C>T						MYT1L_ENST00000428368.2_Silent_p.P529P	p.P531P	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	11	2340	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	531					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.1593G>A																																																																																					0.562	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		6	957	0	0	0	1	0	6	957				
DAZAP1	26528	broad.mit.edu	37	19	1425952	1425952	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:1425952G>A	ENST00000233078.4	+	7	700	c.539G>A	c.(538-540)gGc>gAc	p.G180D	DAZAP1_ENST00000586579.1_Intron|DAZAP1_ENST00000336761.6_Missense_Mutation_p.G180D	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	180	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACATCATGGGCAAAAAAGTG	0.413																																						ENST00000336761.6																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9						c.(538-540)gGc>gAc		DAZ associated protein 1							249.0	220.0	229.0					19																	1425952		2202	4300	6502	SO:0001583	missense	26528				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:1425952G>A		CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"""RNA binding motif (RRM) containing"""	2683	protein-coding gene	gene with protein product	"""deleted in azoospermia associated protein 1"""	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.539G>A	19.37:g.1425952G>A	ENSP00000233078:p.Gly180Asp					DAZAP1_ENST00000233078.4_Missense_Mutation_p.G180D|DAZAP1_ENST00000586579.1_Intron	p.G180D	NM_170711.1	NP_733829.1	Q96EP5	DAZP1_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)	7	744	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	180			RRM 2.		Q96MJ3|Q9NRR9	Missense_Mutation	SNP	ENST00000233078.4	37	c.539G>A	CCDS12065.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.319314	0.81469	.	.	ENSG00000071626	ENST00000233078;ENST00000336761	D;D	0.81821	-1.54;-1.54	4.26	4.26	0.50523	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.88306	0.6401	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;0.994;0.993	D;P;P	0.87578	0.998;0.9;0.839	D	0.89738	0.3931	10	0.66056	D	0.02	.	16.0567	0.80812	0.0:0.0:1.0:0.0	.	247;180;180	Q5IRN4;Q96EP5;Q96EP5-2	.;DAZP1_HUMAN;.	D	180	ENSP00000233078:G180D;ENSP00000337132:G180D	ENSP00000233078:G180D	G	+	2	0	DAZAP1	1376952	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.744000	0.98853	2.085000	0.62840	0.655000	0.94253	GGC		0.413	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449522.3	NM_170711		6	665	0	0	0	1	0	6	665				
TUBB8P7	197331	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G	rs567602838	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		CTAGGTAAAGTGGGGAAGCAG	0.483													.|||	3	0.000599042	0.0015	0.0	5008	,	,		21669	0.0		0.0	False		,,,				2504	0.001					ENST00000564451.1																			0																																																			0							g.chr16:90162620T>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162620T>G														0	1973	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.483	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		6	621	0	0	0	1	0	6	621				
ASCC3	10973	broad.mit.edu	37	6	101073182	101073182	+	Silent	SNP	A	A	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:101073182A>G	ENST00000369162.2	-	30	5015	c.4671T>C	c.(4669-4671)ccT>ccC	p.P1557P		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1557	Helicase C-terminal 2. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		ATATCAAAACAGGTTTGGCTG	0.378																																						ENST00000369162.2																			0				breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(4669-4671)ccT>ccC		activating signal cointegrator 1 complex subunit 3							84.0	84.0	84.0					6																	101073182		2203	4300	6503	SO:0001819	synonymous_variant	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101073182A>G	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.4671T>C	6.37:g.101073182A>G							p.P1557P	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	30	5015	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1557			Helicase C-terminal 2.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Silent	SNP	ENST00000369162.2	37	c.4671T>C	CCDS5046.1																																																																																				0.378	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		14	353	0	0	0	1	0	14	353				
DENND5B	160518	broad.mit.edu	37	12	31577541	31577541	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:31577541C>T	ENST00000389082.5	-	10	2583	c.2319G>A	c.(2317-2319)gaG>gaA	p.E773E	DENND5B_ENST00000306833.6_Silent_p.E808E|DENND5B_ENST00000536562.1_Silent_p.E808E	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	773	RUN 1. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGGTGTTCTCCTCCAGGCCGG	0.517																																						ENST00000389082.5																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2317-2319)gaG>gaA		DENN/MADD domain containing 5B							214.0	208.0	210.0					12																	31577541		2085	4238	6323	SO:0001819	synonymous_variant	160518					integral to membrane		g.chr12:31577541C>T	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.2319G>A	12.37:g.31577541C>T						DENND5B_ENST00000536562.1_Silent_p.E808E|DENND5B_ENST00000306833.6_Silent_p.E808E	p.E773E	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN			10	2583	-			773			RUN 1.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Silent	SNP	ENST00000389082.5	37	c.2319G>A	CCDS44857.1																																																																																				0.517	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		30	604	0	0	0	1	0	30	604				
DPY19L2P1	554236	broad.mit.edu	37	7	35131480	35131480	+	RNA	SNP	A	A	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:35131480A>T	ENST00000436258.1	-	0	1889							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ATCTTCGTAAAGTGGATGATT	0.423																																						ENST00000436258.1																			0																																																			0							g.chr7:35131480A>T	BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35131480A>T														0	1889	-								B4E2E3	RNA	SNP	ENST00000436258.1	37																																																																																						0.423	DPY19L2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338113.1			5	312	0	0	0	1	0	5	312				
COL11A1	1301	broad.mit.edu	37	1	103483426	103483426	+	Missense_Mutation	SNP	G	G	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:103483426G>T	ENST00000370096.3	-	11	1675	c.1363C>A	c.(1363-1365)Cct>Act	p.P455T	COL11A1_ENST00000353414.4_Missense_Mutation_p.P416T|COL11A1_ENST00000512756.1_Missense_Mutation_p.P339T|COL11A1_ENST00000358392.2_Missense_Mutation_p.P467T	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	455	Collagen-like 1.|Triple-helical region (interrupted).				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGACCTGGAGGACCCATAATA	0.418																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(1399-1401)Cct>Act		collagen, type XI, alpha 1							98.0	101.0	100.0					1																	103483426		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103483426G>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1363C>A	1.37:g.103483426G>T	ENSP00000359114:p.Pro455Thr					COL11A1_ENST00000370096.3_Missense_Mutation_p.P455T|COL11A1_ENST00000353414.4_Missense_Mutation_p.P416T|COL11A1_ENST00000512756.1_Missense_Mutation_p.P339T	p.P467T	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	11	1716	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	455			Triple-helical region (interrupted).		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1399C>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322302	0.60634	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	D;D;D;D;D	0.94828	-3.53;-3.53;-3.53;-2.43;-2.43	5.38	5.38	0.77491	.	0.110223	0.64402	D	0.000005	D	0.96935	0.8999	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.85130	0.995;0.991;0.994;0.997	D	0.95999	0.8992	10	0.44086	T	0.13	.	19.111	0.93317	0.0:0.0:1.0:0.0	.	339;416;467;455	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	T	455;467;416;339;467	ENSP00000359114:P455T;ENSP00000351163:P467T;ENSP00000302551:P416T;ENSP00000426533:P339T;ENSP00000408640:P467T	ENSP00000302551:P416T	P	-	1	0	COL11A1	103256014	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.281000	0.89905	2.673000	0.90976	0.650000	0.86243	CCT		0.418	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		75	471	1	0	5.02462e-34	1	5.41249e-34	75	471				
COL6A3	1293	broad.mit.edu	37	2	238253001	238253001	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:238253001C>T	ENST00000295550.4	-	36	8112	c.7660G>A	c.(7660-7662)Gct>Act	p.A2554T	COL6A3_ENST00000346358.4_Missense_Mutation_p.A2354T|COL6A3_ENST00000472056.1_Missense_Mutation_p.A1947T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A2348T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2348T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A2353T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2554	Nonhelical region.|VWFA 11. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACCTGCAAAGCGTTGATGAGC	0.557																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(7660-7662)Gct>Act		collagen, type VI, alpha 3							151.0	155.0	154.0					2																	238253001		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238253001C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7660G>A	2.37:g.238253001C>T	ENSP00000295550:p.Ala2554Thr					COL6A3_ENST00000347401.3_Missense_Mutation_p.A2353T|COL6A3_ENST00000472056.1_Missense_Mutation_p.A1947T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A2348T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2348T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A2354T	p.A2554T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	36	8112	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2554			Nonhelical region.|VWFA 11.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.7660G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881687	0.51908	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	5.08	5.08	0.68730	von Willebrand factor, type A (3);	0.000000	0.52532	D	0.000069	D	0.90335	0.6976	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.999	D	0.88468	0.3060	10	0.30854	T	0.27	.	18.8647	0.92287	0.0:1.0:0.0:0.0	.	1947;1947;2348;2554	E9PFQ6;B7ZMJ7;P12111-2;P12111	.;.;.;CO6A3_HUMAN	T	2554;2353;2348;1947;2348;2354	ENSP00000295550:A2554T;ENSP00000315609:A2353T;ENSP00000315873:A2348T;ENSP00000418285:A1947T;ENSP00000386844:A2348T;ENSP00000295546:A2354T	ENSP00000295550:A2554T	A	-	1	0	COL6A3	237917740	1.000000	0.71417	0.210000	0.23637	0.878000	0.50629	7.308000	0.78929	2.507000	0.84556	0.655000	0.94253	GCT		0.557	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		9	1248	0	0	0	1	0	9	1248				
FBXL17	64839	broad.mit.edu	37	5	107216677	107216677	+	Intron	SNP	A	A	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:107216677A>G	ENST00000542267.1	-	8	2372				FBXL17_ENST00000359660.5_Intron|FBXL17_ENST00000496714.1_Missense_Mutation_p.S278P	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17											endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		AGAGGATATGACATCAAGCTA	0.338																																						ENST00000496714.1																			0				endometrium(1)|large_intestine(4)|lung(1)	6						c.(832-834)Tca>Cca		F-box and leucine-rich repeat protein 17																																				SO:0001627	intron_variant	64839							g.chr5:107216677A>G	AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"""F-boxes / Leucine-rich repeats"""	13615	protein-coding gene	gene with protein product		609083	"""F-box only protein 13"""	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.1965+60T>C	5.37:g.107216677A>G						FBXL17_ENST00000542267.1_Intron|FBXL17_ENST00000359660.5_Intron	p.S278P			Q9UF56	FXL17_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)	7	1033	-		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)	0					A1A4E3	Missense_Mutation	SNP	ENST00000542267.1	37	c.832T>C	CCDS54886.1	.	.	.	.	.	.	.	.	.	.	A	11.28	1.590746	0.28357	.	.	ENSG00000145743	ENST00000496714	T	0.12672	2.66	4.57	1.84	0.25277	.	.	.	.	.	T	0.10423	0.0255	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.27365	-1.0076	8	0.56958	D	0.05	.	6.818	0.23841	0.7224:0.0:0.2776:0.0	.	278	Q9UF56-2	.	P	278	ENSP00000418111:S278P	ENSP00000418111:S278P	S	-	1	0	FBXL17	107244576	0.004000	0.15560	0.006000	0.13384	0.072000	0.16883	1.162000	0.31786	0.374000	0.24650	0.533000	0.62120	TCA		0.338	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				43	302	0	0	0	1	0	43	302				
MAGEA12	4111	broad.mit.edu	37	X	151896589	151896589	+	IGR	SNP	C	C	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:151896589C>A	ENST00000357916.4	-	0	1664				CSAG4_ENST00000361201.4_RNA	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12									p.L11F(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTGTTGGACAATGGGCTGG	0.557																																						ENST00000361201.4																			1	Substitution - Missense(1)	p.L11F(1)	kidney(1)	endometrium(2)|kidney(2)|lung(1)	5																																												SO:0001628	intergenic_variant	0							g.chrX:151896589C>A		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650		X.37:g.151896589C>A								NR_073432.1						0	351	-								Q9NSD3	RNA	SNP	ENST00000357916.4	37		CCDS14710.1																																																																																				0.557	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		24	700	1	0	3.65163e-15	1	3.86569e-15	24	700				
NR2F2	7026	broad.mit.edu	37	15	96877325	96877325	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr15:96877325C>T	ENST00000394166.3	+	2	1852	c.463C>T	c.(463-465)Ccg>Tcg	p.P155S	NR2F2_ENST00000421109.2_Missense_Mutation_p.P22S|NR2F2_ENST00000453270.2_Missense_Mutation_p.P2S|NR2F2_ENST00000394171.2_Missense_Mutation_p.P2S|MIR1469_ENST00000410719.1_RNA	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	155	Interaction with ZFPM2. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GGGCAGGATGCCGCCGACCCA	0.662																																						ENST00000394166.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17						c.(463-465)Ccg>Tcg		nuclear receptor subfamily 2, group F, member 2							67.0	69.0	69.0					15																	96877325		2194	4296	6490	SO:0001583	missense	7026				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr15:96877325C>T	M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.463C>T	15.37:g.96877325C>T	ENSP00000377721:p.Pro155Ser					NR2F2_ENST00000421109.2_Missense_Mutation_p.P22S|NR2F2_ENST00000394171.2_Missense_Mutation_p.P2S|NR2F2_ENST00000453270.2_Missense_Mutation_p.P2S	p.P155S	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0856)		2	1852	+	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		155			Interaction with ZFPM2 (By similarity).		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	ENST00000394166.3	37	c.463C>T	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535017	0.64972	.	.	ENSG00000185551	ENST00000421109;ENST00000394166;ENST00000394171;ENST00000453270	T;T;D;D	0.95821	0.54;0.54;-3.82;-3.82	4.97	4.97	0.65823	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.94696	0.8289	M	0.72353	2.195	0.80722	D	1	B;B	0.31009	0.009;0.303	B;B	0.31337	0.007;0.128	D	0.93746	0.7054	10	0.39692	T	0.17	.	18.2212	0.89902	0.0:1.0:0.0:0.0	.	155;22	P24468;Q3KQR7	COT2_HUMAN;.	S	22;155;2;2	ENSP00000401674:P22S;ENSP00000377721:P155S;ENSP00000377726:P2S;ENSP00000389853:P2S	ENSP00000377721:P155S	P	+	1	0	NR2F2	94678329	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.929000	0.70096	2.301000	0.77427	0.561000	0.74099	CCG		0.662	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			7	855	0	0	0	1	0	7	855				
TRBV6-8	28599	broad.mit.edu	37	7	142124389	142124389	+	RNA	SNP	T	T	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:142124389T>C	ENST00000390376.2	-	0	88									T cell receptor beta variable 6-8																		CTTCAGGATGTGGAATTTTGG	0.522																																						ENST00000390376.2																			0																				91.0	87.0	88.0					7																	142124389		1923	4121	6044			0							g.chr7:142124389T>C	L36092		7q34	2012-02-07			ENSG00000253534	ENSG00000253534		"""T cell receptors / TRB locus"""	12233	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV68, TCRBV13S7P, TCRBV6S8			OTTHUMG00000158916		7.37:g.142124389T>C														0	88	-									RNA	SNP	ENST00000390376.2	37																																																																																						0.522	TRBV6-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352531.2	NG_001333		6	497	0	0	0	1	0	6	497				
RGS20	8601	broad.mit.edu	37	8	54791937	54791937	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:54791937C>T	ENST00000297313.3	+	2	377	c.285C>T	c.(283-285)ccC>ccT	p.P95P	RGS20_ENST00000522225.1_5'Flank|RGS20_ENST00000276500.4_5'Flank|RP11-1070A24.2_ENST00000606037.1_RNA|RGS20_ENST00000344277.6_Intron	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	95					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)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			GACCCCCTCCCGAGGCTCCCC	0.726																																						ENST00000297313.3																			0				breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(283-285)ccC>ccT		regulator of G-protein signaling 20							37.0	48.0	44.0					8																	54791937		2203	4296	6499	SO:0001819	synonymous_variant	8601				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr8:54791937C>T	AF074979	CCDS6155.1, CCDS6156.1, CCDS69482.1	8q11.23	2008-07-25	2007-08-14		ENSG00000147509	ENSG00000147509		"""Regulators of G-protein signaling"""	14600	protein-coding gene	gene with protein product		607193	"""regulator of G-protein signalling 20"""			9748279, 9748280	Standard	NM_003702		Approved	RGSZ1, ZGAP1	uc003xrp.3	O76081	OTTHUMG00000164750	ENST00000297313.3:c.285C>T	8.37:g.54791937C>T						RGS20_ENST00000344277.6_Intron	p.P95P	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)		2	377	+			95					Q96BG9	Silent	SNP	ENST00000297313.3	37	c.285C>T	CCDS6155.1																																																																																				0.726	RGS20-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380058.1			8	605	0	0	0	1	0	8	605				
TRH	7200	broad.mit.edu	37	3	129695840	129695840	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:129695840G>A	ENST00000302649.3	+	3	1037	c.510G>A	c.(508-510)gaG>gaA	p.E170E	TRH_ENST00000507066.1_Silent_p.E166E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	170					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)	p.E170E(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						Gggaagaagaggaggaggagg	0.642																																					Esophageal Squamous(60;321 1330 17401 41911)	ENST00000302649.3																			1	Substitution - coding silent(1)	p.E170E(1)	prostate(1)	NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						c.(508-510)gaG>gaA		thyrotropin-releasing hormone							33.0	35.0	34.0					3																	129695840		2202	4300	6502	SO:0001819	synonymous_variant	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129695840G>A		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"""Endogenous ligands"""	12298	protein-coding gene	gene with protein product	"""prothyroliberin"""	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.510G>A	3.37:g.129695840G>A						TRH_ENST00000507066.1_Silent_p.E166E	p.E170E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN			3	1037	+			170					B2R8R1|Q2TB83	Silent	SNP	ENST00000302649.3	37	c.510G>A	CCDS3066.1																																																																																				0.642	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		6	456	0	0	0	1	0	6	456				
NUP160	23279	broad.mit.edu	37	11	47861533	47861533	+	Missense_Mutation	SNP	T	T	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:47861533T>C	ENST00000378460.2	-	4	656	c.610A>G	c.(610-612)Att>Gtt	p.I204V	NUP160_ENST00000532747.1_Intron|NUP160_ENST00000526870.1_3'UTR|NUP160_ENST00000530326.1_Missense_Mutation_p.I90V|NUP160_ENST00000528071.1_Missense_Mutation_p.I90V	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	204					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 export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						ACTGCTGGAATTAACTGATAG	0.458																																						ENST00000378460.2																			0				NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						c.(610-612)Att>Gtt		nucleoporin 160kDa							114.0	108.0	110.0					11																	47861533		2201	4298	6499	SO:0001583	missense	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47861533T>C	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.610A>G	11.37:g.47861533T>C	ENSP00000367721:p.Ile204Val					NUP160_ENST00000526870.1_3'UTR|NUP160_ENST00000532747.1_Intron|NUP160_ENST00000528071.1_Missense_Mutation_p.I90V|NUP160_ENST00000530326.1_Missense_Mutation_p.I90V	p.I204V	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN			4	656	-			204					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	c.610A>G	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.236417	0.79800	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	T;T;T	0.44881	0.91;0.91;0.91	5.44	5.44	0.79542	.	0.052986	0.64402	D	0.000001	T	0.54029	0.1833	M	0.65975	2.015	0.80722	D	1	P	0.45126	0.851	P	0.51055	0.657	T	0.53563	-0.8421	10	0.39692	T	0.17	.	15.4885	0.75587	0.0:0.0:0.0:1.0	.	204	Q12769	NU160_HUMAN	V	204;90;90	ENSP00000367721:I204V;ENSP00000433590:I90V;ENSP00000432367:I90V	ENSP00000367721:I204V	I	-	1	0	NUP160	47818109	1.000000	0.71417	0.992000	0.48379	0.917000	0.54804	5.079000	0.64431	2.063000	0.61619	0.533000	0.62120	ATT		0.458	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		81	441	0	0	0	1	0	81	441				
ZNF646	9726	broad.mit.edu	37	16	31089682	31089682	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:31089682C>T	ENST00000394979.2	+	1	2460	c.2037C>T	c.(2035-2037)ggC>ggT	p.G679G	ZNF646_ENST00000300850.5_Silent_p.G679G			O15015	ZN646_HUMAN	zinc finger protein 646	679					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						AGCGGGCTGGCGGTGCCAGCG	0.652																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(2035-2037)ggC>ggT		zinc finger protein 646							26.0	33.0	30.0					16																	31089682		2195	4289	6484	SO:0001819	synonymous_variant	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31089682C>T	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.2037C>T	16.37:g.31089682C>T						ZNF646_ENST00000300850.5_Silent_p.G679G	p.G679G			O15015	ZN646_HUMAN			1	2460	+			679					Q8IVD8	Silent	SNP	ENST00000394979.2	37	c.2037C>T																																																																																					0.652	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		5	347	0	0	0	1	0	5	347				
SRGAP3	9901	broad.mit.edu	37	3	9100157	9100157	+	Splice_Site	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:9100157C>T	ENST00000383836.3	-	7	1229		c.e7-1		SRGAP3_ENST00000360413.3_Splice_Site|SRGAP3_ENST00000433332.3_Splice_Site	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AATCACAGCACTTGGGGAGAG	0.577			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.e7-1		SLIT-ROBO Rho GTPase activating protein 3							68.0	64.0	65.0					3																	9100157		2203	4300	6503	SO:0001630	splice_region_variant	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9100157C>T	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.802-1G>A	3.37:g.9100157C>T						SRGAP3_ENST00000433332.3_Splice_Site|SRGAP3_ENST00000360413.3_Splice_Site		NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	7	1229	-								Q8IX13|Q8IZV8	Splice_Site	SNP	ENST00000383836.3	37		CCDS2572.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424679	0.83667	.	.	ENSG00000196220	ENST00000383836;ENST00000360413;ENST00000544908	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1098	0.93312	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SRGAP3	9075157	1.000000	0.71417	0.998000	0.56505	0.868000	0.49771	7.663000	0.83820	2.596000	0.87737	0.650000	0.86243	.		0.577	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3		Intron	8	374	0	0	0	1	0	8	374				
MYOC	4653	broad.mit.edu	37	1	171605766	171605766	+	Nonsense_Mutation	SNP	G	G	A	rs202176570		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:171605766G>A	ENST00000037502.6	-	3	885	c.814C>T	c.(814-816)Cga>Tga	p.R272*		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	272	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.		R -> G (in GLC1A; unknown pathological significance). {ECO:0000269|PubMed:11004290}.		bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)	p.R272*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TTGGGGTCTCGCATCCACACA	0.512																																						ENST00000037502.5																			1	Substitution - Nonsense(1)	p.R272*(1)	endometrium(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	GRCh37	CM005409	MYOC	M		c.(814-816)Cga>Tga		myocilin, trabecular meshwork inducible glucocorticoid response		G	stop/ARG	0,4406		0,0,2203	94.0	95.0	95.0		814	-1.1	1.0	1		95	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	MYOC	NM_000261.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		272/505	171605766	1,13005	2203	4300	6503	SO:0001587	stop_gained	4653				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	g.chr1:171605766G>A	BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.814C>T	1.37:g.171605766G>A	ENSP00000037502:p.Arg272*						p.R272*	NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN			3	873	-	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		272		R -> G (in GLC1A; could be a polymorphism).	Olfactomedin-like.		B2RD84|O00620|Q7Z6Q9	Nonsense_Mutation	SNP	ENST00000037502.6	37	c.814C>T	CCDS1297.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908515	0.92107	0.0	1.16E-4	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000536591;ENST00000537133	.	.	.	5.76	-1.13	0.09775	.	0.139314	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	16.4257	0.83814	0.0:0.0:0.6471:0.3529	.	.	.	.	X	272;225;205;272	.	ENSP00000037502:R272X	R	-	1	2	MYOC	169872389	1.000000	0.71417	0.991000	0.47740	0.951000	0.60555	1.127000	0.31357	-0.445000	0.07159	0.555000	0.69702	CGA		0.512	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2	NM_000261		7	552	0	0	0	1	0	7	552				
DSP	1832	broad.mit.edu	37	6	7580347	7580347	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:7580347G>A	ENST00000379802.3	+	23	4265	c.3924G>A	c.(3922-3924)cgG>cgA	p.R1308R	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1308	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACAATGCCCGGCACAAGCAGT	0.532																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(3922-3924)cgG>cgA		desmoplakin							80.0	83.0	82.0					6																	7580347		2202	4300	6502	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7580347G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.3924G>A	6.37:g.7580347G>A						DSP_ENST00000418664.2_Intron	p.R1308R	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	4265	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1308			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.3924G>A	CCDS4501.1																																																																																				0.532	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		5	563	0	0	0	1	0	5	563				
ZNF749	388567	broad.mit.edu	37	19	57956103	57956103	+	Silent	SNP	T	T	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:57956103T>C	ENST00000334181.4	+	3	1837	c.1587T>C	c.(1585-1587)caT>caC	p.H529H	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	529					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TAGTTCAGCATGAGAAAATCC	0.453																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(1585-1587)caT>caC		zinc finger protein 749							97.0	93.0	94.0					19																	57956103		2203	4300	6503	SO:0001819	synonymous_variant	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57956103T>C	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1587T>C	19.37:g.57956103T>C						AC004076.9_ENST00000596831.1_Intron	p.H529H	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	1837	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	529						Silent	SNP	ENST00000334181.4	37	c.1587T>C	CCDS33132.2																																																																																				0.453	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		6	436	0	0	0	1	0	6	436				
LOC494141	494141	broad.mit.edu	37	11	18231323	18231323	+	Missense_Mutation	SNP	A	A	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:18231323A>C	ENST00000527059.1	+	1	569	c.109A>C	c.(109-111)Agt>Cgt	p.S37R	RP11-113D6.10_ENST00000534640.1_Missense_Mutation_p.S37R|RP11-113D6.10_ENST00000340135.3_Missense_Mutation_p.S37R																							TTACAGATTTAGTGAAATGAA	0.413																																						ENST00000527059.1																			0											c.(109-111)Agt>Cgt																																						SO:0001583	missense	0							g.chr11:18231323A>C																												ENST00000527059.1:c.109A>C	11.37:g.18231323A>C	ENSP00000436511:p.Ser37Arg					RP11-113D6.10_ENST00000340135.3_Missense_Mutation_p.S37R|RP11-113D6.10_ENST00000534640.1_Missense_Mutation_p.S37R	p.S37R							1	569	+									Missense_Mutation	SNP	ENST00000527059.1	37	c.109A>C		.	.	.	.	.	.	.	.	.	.	a	4.799	0.148497	0.09134	.	.	ENSG00000189332	ENST00000340135;ENST00000534640;ENST00000527059	T;T;T	0.79554	-1.28;-1.28;-1.28	0.513	-1.03	0.10102	.	0.734180	0.13159	N	0.409189	T	0.59838	0.2223	.	.	.	.	.	.	.	.	.	.	.	.	T	0.48387	-0.9040	6	0.14656	T	0.56	.	2.1735	0.03856	0.2459:0.0:0.2824:0.4717	.	.	.	.	R	37	ENSP00000342780:S37R;ENSP00000437119:S37R;ENSP00000436511:S37R	ENSP00000342780:S37R	S	+	1	0	RP11-113D6.10	18187899	0.970000	0.33590	0.062000	0.19696	0.316000	0.28119	0.273000	0.18662	-1.565000	0.01676	-0.769000	0.03391	AGT		0.413	RP11-113D6.10-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389801.2			42	261	0	0	0	1	0	42	261				
SLC5A9	200010	broad.mit.edu	37	1	48694800	48694800	+	Intron	SNP	A	A	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:48694800A>T	ENST00000438567.2	+	4	391				SLC5A9_ENST00000533824.1_Missense_Mutation_p.D122V|RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000420136.2_Intron|SLC5A9_ENST00000236495.5_Missense_Mutation_p.D122V	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9						sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						tctggaggagacagagggatc	0.527																																						ENST00000236495.5																			0				breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						c.(364-366)gAc>gTc		solute carrier family 5 (sodium/sugar cotransporter), member 9							137.0	146.0	143.0					1																	48694800		2203	4300	6503	SO:0001627	intron_variant	200010					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	g.chr1:48694800A>T	BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.340-167A>T	1.37:g.48694800A>T						SLC5A9_ENST00000438567.2_Intron|SLC5A9_ENST00000420136.2_Intron|RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000533824.1_Missense_Mutation_p.D122V	p.D122V	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN			4	415	+			113					B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	ENST00000438567.2	37	c.365A>T	CCDS30709.2	.	.	.	.	.	.	.	.	.	.	A	11.85	1.762531	0.31228	.	.	ENSG00000117834	ENST00000533824;ENST00000236495	D;D	0.86366	-2.09;-2.11	4.38	-3.72	0.04411	.	7.109250	0.00166	N	0.000000	T	0.69360	0.3102	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.10450	0.005;0.005	T	0.61098	-0.7131	10	0.13470	T	0.59	.	2.5006	0.04632	0.2016:0.4357:0.229:0.1337	.	122;122	E9PJ08;E9PAK4	.;.	V	122	ENSP00000431900:D122V;ENSP00000236495:D122V	ENSP00000236495:D122V	D	+	2	0	SLC5A9	48467387	0.000000	0.05858	0.000000	0.03702	0.291000	0.27294	0.004000	0.13106	-0.559000	0.06110	-0.464000	0.05259	GAC		0.527	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174		109	831	0	0	0	1	0	109	831				
OR8H2	390151	broad.mit.edu	37	11	55872750	55872750	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:55872750G>A	ENST00000313503.1	+	1	232	c.232G>A	c.(232-234)Gtc>Atc	p.V78I		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTCAACTGTCGTCACACCTAA	0.438										HNSCC(53;0.14)																												ENST00000313503.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(232-234)Gtc>Atc		olfactory receptor, family 8, subfamily H, member 2							248.0	248.0	248.0					11																	55872750		2201	4293	6494	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872750G>A	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.232G>A	11.37:g.55872750G>A	ENSP00000323982:p.Val78Ile	HNSCC(53;0.14)					p.V78I	NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN			1	232	+	Esophageal squamous(21;0.00693)		78					Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.232G>A	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	g	0.053	-1.245473	0.01481	.	.	ENSG00000181767	ENST00000313503	T	0.01406	4.93	3.58	1.05	0.20165	GPCR, rhodopsin-like superfamily (1);	0.117869	0.38959	N	0.001502	T	0.00608	0.0020	N	0.03016	-0.435	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49123	-0.8972	10	0.02654	T	1	.	8.3388	0.32230	0.8257:0.0:0.1743:0.0	.	78	Q8N162	OR8H2_HUMAN	I	78	ENSP00000323982:V78I	ENSP00000323982:V78I	V	+	1	0	OR8H2	55629326	0.004000	0.15560	0.989000	0.46669	0.646000	0.38490	2.210000	0.42816	0.080000	0.16959	-0.573000	0.04149	GTC		0.438	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		15	1522	0	0	0	1	0	15	1522				
GPC3	2719	broad.mit.edu	37	X	132730547	132730547	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:132730547G>A	ENST00000370818.3	-	7	1939	c.1494C>T	c.(1492-1494)tgC>tgT	p.C498C	GPC3_ENST00000543339.1_Silent_p.C444C|GPC3_ENST00000394299.2_Silent_p.C521C	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	498					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CATCATCACCGCAGTCTCCAC	0.463			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																													ENST00000370818.3			yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	"""T, D, Mis, N, F, S"""	glypican 3			O		Wilms tumour			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36						c.(1492-1494)tgC>tgT		glypican 3							243.0	206.0	218.0					X																	132730547		2203	4300	6503	SO:0001819	synonymous_variant	2719	Simpson-Golabi-Behmel syndrome	Familial Cancer Database	SGBS		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	g.chrX:132730547G>A	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.1494C>T	X.37:g.132730547G>A						GPC3_ENST00000394299.2_Silent_p.C521C|GPC3_ENST00000543339.1_Silent_p.C444C	p.C498C	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN			7	1939	-	Acute lymphoblastic leukemia(192;0.000127)		498					C9JLE3|G3V1R0|Q2L880|Q2L882	Silent	SNP	ENST00000370818.3	37	c.1494C>T	CCDS14638.1	.	.	.	.	.	.	.	.	.	.	G	2.995	-0.207259	0.06180	.	.	ENSG00000147257	ENST00000406757	.	.	.	4.73	-9.46	0.00597	.	.	.	.	.	T	0.72803	0.3506	.	.	.	0.48040	D	0.999576	.	.	.	.	.	.	T	0.82566	-0.0393	4	.	.	.	.	22.4363	0.99971	0.2327:0.0:0.7673:0.0	.	.	.	.	V	228	.	.	A	-	2	0	GPC3	132558213	0.000000	0.05858	0.008000	0.14137	0.665000	0.39181	-3.320000	0.00513	-3.839000	0.00100	-1.679000	0.00737	GCG		0.463	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		6	853	0	0	0	1	0	6	853				
COQ10A	93058	broad.mit.edu	37	12	56662938	56662938	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:56662938G>A	ENST00000308197.5	+	3	638	c.377G>A	c.(376-378)cGt>cAt	p.R126H	COQ10A_ENST00000546544.1_Missense_Mutation_p.R109H|COQ10A_ENST00000433805.2_Missense_Mutation_p.R94H|RP11-977G19.14_ENST00000546464.1_RNA	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	126						mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						GTATCCAGCCGTAAGGGTCAT	0.512																																						ENST00000308197.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						c.(376-378)cGt>cAt		coenzyme Q10 homolog A (S. cerevisiae)							132.0	130.0	131.0					12																	56662938		1958	4125	6083	SO:0001583	missense	93058					mitochondrial inner membrane		g.chr12:56662938G>A	AK057003	CCDS41796.1, CCDS44921.1	12q13.3	2011-09-16	2006-04-04		ENSG00000135469	ENSG00000135469			26515	protein-coding gene	gene with protein product			"""coenzyme Q10 homolog A (yeast)"""				Standard	NM_144576		Approved	FLJ32452	uc001sko.4	Q96MF6	OTTHUMG00000170283	ENST00000308197.5:c.377G>A	12.37:g.56662938G>A	ENSP00000312587:p.Arg126His					COQ10A_ENST00000433805.2_Missense_Mutation_p.R94H|RP11-977G19.14_ENST00000546464.1_RNA|COQ10A_ENST00000546544.1_Missense_Mutation_p.R109H	p.R126H	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN			3	638	+			126					Q6GMR6|Q6UWB9|Q86X16|Q8TAL2|Q96MF1|Q9BUP4	Missense_Mutation	SNP	ENST00000308197.5	37	c.377G>A	CCDS41796.1	.	.	.	.	.	.	.	.	.	.	G	35	5.436623	0.96168	.	.	ENSG00000135469	ENST00000308197;ENST00000433805;ENST00000546544	T;T;T	0.26810	1.71;1.73;1.73	5.33	5.33	0.75918	START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.30166	0.0756	L	0.54965	1.715	0.80722	D	1	P;P;P	0.47350	0.87;0.894;0.894	B;B;B	0.41571	0.245;0.258;0.36	T	0.06643	-1.0815	10	0.54805	T	0.06	.	18.1779	0.89767	0.0:0.0:1.0:0.0	.	109;131;126	Q96MF6-2;Q8TAL2;Q96MF6	.;.;CQ10A_HUMAN	H	126;94;109	ENSP00000312587:R126H;ENSP00000407843:R94H;ENSP00000446723:R109H	ENSP00000312587:R126H	R	+	2	0	COQ10A	54949205	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.651000	0.83577	2.665000	0.90641	0.561000	0.74099	CGT		0.512	COQ10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408332.1	NM_144576		7	624	0	0	0	1	0	7	624				
SORBS2	8470	broad.mit.edu	37	4	186544317	186544317	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:186544317G>A	ENST00000284776.7	-	13	2763	c.2254C>T	c.(2254-2256)Ccg>Tcg	p.P752S	SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000431808.1_Missense_Mutation_p.P752S|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	752					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.P752S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTGTTGTCCGGCAAGCTCCCC	0.522																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			1	Substitution - Missense(1)	p.P752S(1)	prostate(1)	endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(2254-2256)Ccg>Tcg		sorbin and SH3 domain containing 2							141.0	161.0	154.0					4																	186544317		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544317G>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2254C>T	4.37:g.186544317G>A	ENSP00000284776:p.Pro752Ser					SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.P752S|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron	p.P752S			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2817	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	752					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.2254C>T	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620652	0.46736	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.41758	1.09;1.09;0.99;1.05	5.77	5.77	0.91146	.	0.051313	0.85682	D	0.000000	T	0.58424	0.2121	L	0.39633	1.23	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.997	T	0.51865	-0.8651	10	0.38643	T	0.18	-14.2624	19.982	0.97329	0.0:0.0:1.0:0.0	.	656;852;752	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	S	752;752;656;852	ENSP00000284776:P752S;ENSP00000411764:P752S;ENSP00000397482:P656S;ENSP00000347852:P852S	ENSP00000284776:P752S	P	-	1	0	SORBS2	186781311	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	9.869000	0.99810	2.737000	0.93849	0.561000	0.74099	CCG		0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		7	1364	0	0	0	1	0	7	1364				
PRG4	10216	broad.mit.edu	37	1	186275982	186275982	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:186275982C>T	ENST00000445192.2	+	7	1176	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	377	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCCCCAAGGAGC	0.637																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1129-1131)acC>acT		proteoglycan 4							171.0	164.0	166.0					1																	186275982		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186275982C>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1131C>T	1.37:g.186275982C>T						PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T	p.T377T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1176	+			377			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1131C>T	CCDS1369.1																																																																																				0.637	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		12	1019	0	0	0	1	0	12	1019				
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000409364.3_Silent_p.E103E|GTF3C3_ENST00000470386.1_5'Flank	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.				5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468																																						ENST00000263956.3																			1	Substitution - coding silent(1)	p.E103E(1)	endometrium(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(307-309)gaG>gaA		general transcription factor IIIC, polypeptide 3, 102kDa							65.0	63.0	64.0					2																	197657782		2203	4300	6503	SO:0001819	synonymous_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197657782C>T	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.309G>A	2.37:g.197657782C>T						GTF3C3_ENST00000409364.3_Silent_p.E103E	p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			3	398	-			103			Glu-rich.		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	c.309G>A	CCDS2316.1																																																																																				0.468	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			4	235	0	0	0	1	0	4	235				
SETDB1	9869	broad.mit.edu	37	1	150921863	150921863	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:150921863C>T	ENST00000271640.5	+	12	1632	c.1442C>T	c.(1441-1443)gCc>gTc	p.A481V	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Missense_Mutation_p.A481V	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	481					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGCCAGCTTGCCCAGTCACGG	0.443																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(1441-1443)gCc>gTc		SET domain, bifurcated 1							106.0	112.0	110.0					1																	150921863		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150921863C>T	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.1442C>T	1.37:g.150921863C>T	ENSP00000271640:p.Ala481Val					SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Missense_Mutation_p.A481V	p.A481V	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		12	1632	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		481					A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.1442C>T	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252181	0.59212	.	.	ENSG00000143379	ENST00000271640;ENST00000534805;ENST00000368969;ENST00000498193	D;T;D;T	0.88046	-2.33;1.38;-2.33;1.14	4.65	4.65	0.58169	.	0.068152	0.64402	D	0.000015	T	0.69024	0.3065	N	0.24115	0.695	0.80722	D	1	B;P;B;B	0.38677	0.295;0.642;0.253;0.141	B;B;B;B	0.35278	0.081;0.199;0.088;0.012	T	0.72033	-0.4412	10	0.15499	T	0.54	.	17.7273	0.88369	0.0:1.0:0.0:0.0	.	481;482;481;481	E9PRF4;E9PQM8;Q15047-3;Q15047	.;.;.;SETB1_HUMAN	V	481;482;481;481	ENSP00000271640:A481V;ENSP00000436148:A482V;ENSP00000357965:A481V;ENSP00000432348:A481V	ENSP00000271640:A481V	A	+	2	0	SETDB1	149188487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.161000	0.58170	2.417000	0.82017	0.561000	0.74099	GCC		0.443	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			5	696	0	0	0	1	0	5	696				
LTBP2	4053	broad.mit.edu	37	14	74968164	74968164	+	Missense_Mutation	SNP	G	G	A	rs138556118		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr14:74968164G>A	ENST00000261978.4	-	35	5686	c.5300C>T	c.(5299-5301)gCg>gTg	p.A1767V	LTBP2_ENST00000556690.1_Missense_Mutation_p.A1723V	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1767	EGF-like 19; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CATGTGGGCCGCATCCAGCTG	0.617											OREG0022805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(5299-5301)gCg>gTg		latent transforming growth factor beta binding protein 2		G	VAL/ALA	0,4406		0,0,2203	103.0	102.0	102.0		5300	1.1	0.0	14	dbSNP_134	102	2,8598	2.2+/-6.3	0,2,4298	no	missense	LTBP2	NM_000428.2	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	1767/1822	74968164	2,13004	2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74968164G>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.5300C>T	14.37:g.74968164G>A	ENSP00000261978:p.Ala1767Val		OREG0022805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1156	LTBP2_ENST00000556690.1_Missense_Mutation_p.A1723V	p.A1767V	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	35	5686	-			1767			EGF-like 19; calcium-binding (Potential).		Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.5300C>T	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	G	5.097	0.203535	0.09704	0.0	2.33E-4	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.87650	-2.28;-2.28	5.25	1.09	0.20402	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.969671	0.08413	N	0.949507	T	0.76870	0.4048	L	0.38175	1.15	0.09310	N	1	P	0.34522	0.455	B	0.18263	0.021	T	0.57877	-0.7735	10	0.24483	T	0.36	.	8.7657	0.34702	0.5654:0.0:0.4346:0.0	.	1767	Q14767	LTBP2_HUMAN	V	1767;1723	ENSP00000261978:A1767V;ENSP00000451477:A1723V	ENSP00000261978:A1767V	A	-	2	0	LTBP2	74037917	0.004000	0.15560	0.001000	0.08648	0.992000	0.81027	1.429000	0.34903	0.017000	0.15025	0.650000	0.86243	GCG		0.617	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		6	732	0	0	0	1	0	6	732				
ZBTB38	253461	broad.mit.edu	37	3	141163339	141163339	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:141163339C>T	ENST00000514251.1	+	4	2388	c.2109C>T	c.(2107-2109)gcC>gcT	p.A703A	ZBTB38_ENST00000441582.2_Silent_p.A703A|ZBTB38_ENST00000321464.5_Silent_p.A704A					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GTGAGAATGCCGCCTCTGTGA	0.498																																						ENST00000514251.1																			0				breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						c.(2107-2109)gcC>gcT		zinc finger and BTB domain containing 38							80.0	83.0	82.0					3																	141163339		2051	4205	6256	SO:0001819	synonymous_variant	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141163339C>T	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2109C>T	3.37:g.141163339C>T						ZBTB38_ENST00000441582.2_Silent_p.A703A|ZBTB38_ENST00000321464.5_Silent_p.A704A	p.A703A			Q8NAP3	ZBT38_HUMAN			4	2388	+			703						Silent	SNP	ENST00000514251.1	37	c.2109C>T	CCDS43157.1																																																																																				0.498	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			54	690	0	0	0	1	0	54	690				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000567960.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000564451.1_RNA								0	1249	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		7	564	0	0	0	1	0	7	564				
ZNF606	80095	broad.mit.edu	37	19	58490664	58490664	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:58490664C>T	ENST00000341164.4	-	7	2004	c.1384G>A	c.(1384-1386)Gga>Aga	p.G462R	ZNF606_ENST00000536132.1_Missense_Mutation_p.G372R	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	462					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		AAGGCTTTTCCACATTTATTA	0.358																																						ENST00000341164.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1384-1386)Gga>Aga		zinc finger protein 606							56.0	61.0	59.0					19																	58490664		2203	4299	6502	SO:0001583	missense	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58490664C>T	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1384G>A	19.37:g.58490664C>T	ENSP00000343617:p.Gly462Arg					ZNF606_ENST00000536132.1_Missense_Mutation_p.G372R	p.G462R	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	2004	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	462					A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	c.1384G>A	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223390	0.58668	.	.	ENSG00000166704	ENST00000341164;ENST00000536132;ENST00000551380	T;T;T	0.01484	4.84;4.84;4.84	4.55	4.55	0.56014	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45361	D	0.000365	T	0.08935	0.0221	M	0.67517	2.055	0.53688	D	0.999976	D	0.89917	1.0	D	0.68483	0.958	T	0.01648	-1.1304	10	0.66056	D	0.02	.	16.585	0.84725	0.0:1.0:0.0:0.0	.	462	Q8WXB4	ZN606_HUMAN	R	462;372;462	ENSP00000343617:G462R;ENSP00000445624:G372R;ENSP00000446972:G462R	ENSP00000343617:G462R	G	-	1	0	ZNF606	63182476	0.976000	0.34144	1.000000	0.80357	0.997000	0.91878	2.375000	0.44283	2.515000	0.84797	0.655000	0.94253	GGA		0.358	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		39	220	0	0	0	1	0	39	220				
SCN3B	55800	broad.mit.edu	37	11	123516310	123516310	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:123516310G>A	ENST00000392770.2	-	2	1006	c.204C>T	c.(202-204)ggC>ggT	p.G68G	SCN3B_ENST00000530277.1_Silent_p.G68G|SCN3B_ENST00000299333.3_Silent_p.G68G	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	68	Ig-like C2-type.				atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	AATCTTTACCGCCCTCGGGCC	0.592																																						ENST00000392770.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26						c.(202-204)ggC>ggT		sodium channel, voltage-gated, type III, beta subunit							132.0	138.0	136.0					11																	123516310		2202	4299	6501	SO:0001819	synonymous_variant	55800				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	g.chr11:123516310G>A	AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	20665	protein-coding gene	gene with protein product		608214	"""sodium channel, voltage-gated, type III, beta"""			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.204C>T	11.37:g.123516310G>A						SCN3B_ENST00000530277.1_Silent_p.G68G|SCN3B_ENST00000299333.3_Silent_p.G68G	p.G68G	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	2	1006	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	68			Ig-like C2-type.		A5H1I5|Q17RL3|Q9ULR2	Silent	SNP	ENST00000392770.2	37	c.204C>T	CCDS8442.1																																																																																				0.592	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387412.1	NM_018400		107	524	0	0	0	1	0	107	524				
SLC5A1	6523	broad.mit.edu	37	22	32481008	32481008	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:32481008G>A	ENST00000266088.4	+	9	1257	c.1007G>A	c.(1006-1008)cGc>cAc	p.R336H	SLC5A1_ENST00000543737.1_Missense_Mutation_p.R209H	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	336					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)	p.R336H(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	ATGATCAGCCGCATTCTGTAC	0.483																																						ENST00000266088.4																			1	Substitution - Missense(1)	p.R336H(1)	prostate(1)	NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						c.(1006-1008)cGc>cAc		solute carrier family 5 (sodium/glucose cotransporter), member 1							181.0	153.0	162.0					22																	32481008		2203	4300	6503	SO:0001583	missense	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32481008G>A		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1007G>A	22.37:g.32481008G>A	ENSP00000266088:p.Arg336His					SLC5A1_ENST00000543737.1_Missense_Mutation_p.R209H	p.R336H	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN			9	1257	+			336					B2R7E2|B7Z4Q9|B7ZA69	Missense_Mutation	SNP	ENST00000266088.4	37	c.1007G>A	CCDS13902.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907312	0.72868	.	.	ENSG00000100170	ENST00000266088;ENST00000543737	D;D	0.89123	-2.47;-2.47	4.92	2.8	0.32819	.	0.051673	0.85682	N	0.000000	D	0.95370	0.8497	H	0.95574	3.69	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.94570	0.7770	10	0.87932	D	0	.	9.6601	0.39950	0.078:0.142:0.78:0.0	.	336	P13866	SC5A1_HUMAN	H	336;209	ENSP00000266088:R336H;ENSP00000444898:R209H	ENSP00000266088:R336H	R	+	2	0	SLC5A1	30811008	1.000000	0.71417	0.996000	0.52242	0.796000	0.44982	9.582000	0.98214	0.589000	0.29677	-0.229000	0.12294	CGC		0.483	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		7	849	0	0	0	1	0	7	849				
WWP1	11059	broad.mit.edu	37	8	87423766	87423766	+	Splice_Site	SNP	G	G	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:87423766G>T	ENST00000517970.1	+	9	1031		c.e9-1		WWP1_ENST00000349423.2_Splice_Site|WWP1_ENST00000265428.4_Splice_Site|WWP1_ENST00000341922.2_Splice_Site	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1						central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TCCCTTCTCAGTTAATGGAGA	0.368																																						ENST00000517970.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						c.e9-1		WW domain containing E3 ubiquitin protein ligase 1							84.0	82.0	82.0					8																	87423766		2203	4300	6503	SO:0001630	splice_region_variant	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87423766G>T	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.725-1G>T	8.37:g.87423766G>T						WWP1_ENST00000349423.2_Splice_Site|WWP1_ENST00000341922.2_Splice_Site|WWP1_ENST00000265428.4_Splice_Site		NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN			9	1031	+								O00307|Q5YLC1|Q96BP4	Splice_Site	SNP	ENST00000517970.1	37		CCDS6242.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930378	0.52866	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1564	0.86792	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WWP1	87492882	1.000000	0.71417	0.992000	0.48379	0.603000	0.37013	4.394000	0.59671	2.492000	0.84095	0.650000	0.86243	.		0.368	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013	Intron	8	361	1	0	0.0381472	1	0.0383974	8	361				
RNF133	168433	broad.mit.edu	37	7	122338189	122338189	+	Missense_Mutation	SNP	G	G	A	rs137950690		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:122338189G>A	ENST00000340112.2	-	1	1021	c.784C>T	c.(784-786)Cgc>Tgc	p.R262C	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	262					protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						GGCTTATAGCGTTCAAAGCAA	0.403																																					Colon(198;1778 2057 7449 19869 45985)	ENST00000340112.2																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(784-786)Cgc>Tgc		ring finger protein 133		G	,,,CYS/ARG	0,4406		0,0,2203	159.0	148.0	152.0		,,,784	2.6	0.3	7	dbSNP_134	152	2,8598	2.2+/-6.3	0,2,4298	no	intron,intron,intron,missense	CADPS2,RNF133	NM_001009571.3,NM_001167940.1,NM_017954.10,NM_139175.1	,,,180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,benign	,,,262/377	122338189	2,13004	2203	4300	6503	SO:0001583	missense	168433					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	g.chr7:122338189G>A	AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"""RING-type (C3HC4) zinc fingers"""	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.784C>T	7.37:g.122338189G>A	ENSP00000344489:p.Arg262Cys					CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron	p.R262C	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN			1	1021	-			262					A4D0W2|Q8N7G7	Missense_Mutation	SNP	ENST00000340112.2	37	c.784C>T	CCDS5784.1	.	.	.	.	.	.	.	.	.	.	G	0.871	-0.731875	0.03135	0.0	2.33E-4	ENSG00000188050	ENST00000340112	T	0.43294	0.95	5.53	2.62	0.31277	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.713262	0.12945	U	0.426283	T	0.26011	0.0634	N	0.21282	0.65	0.09310	N	0.999999	B	0.23891	0.093	B	0.20767	0.031	T	0.20306	-1.0279	10	0.62326	D	0.03	.	4.5179	0.11945	0.091:0.4253:0.36:0.1236	.	262	Q8WVZ7	RN133_HUMAN	C	262	ENSP00000344489:R262C	ENSP00000344489:R262C	R	-	1	0	RNF133	122125425	0.051000	0.20477	0.293000	0.24932	0.004000	0.04260	0.822000	0.27352	0.672000	0.31204	-0.424000	0.05967	CGC		0.403	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	NM_139175		8	722	0	0	0	1	0	8	722				
TEX37	200523	broad.mit.edu	37	2	88828748	88828748	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:88828748G>A	ENST00000303254.3	+	4	441	c.299G>A	c.(298-300)cGc>cAc	p.R100H		NM_152670.2	NP_689883.1	Q96LM6	TEX37_HUMAN	testis expressed 37	100						nucleus (GO:0005634)											GAGGACGAGCGCAAGTTCACC	0.587																																						ENST00000303254.3																			0											c.(298-300)cGc>cAc		testis expressed 37							144.0	130.0	135.0					2																	88828748		2203	4300	6503	SO:0001583	missense	200523							g.chr2:88828748G>A	AK058098	CCDS2003.1	2p11.2	2014-01-28	2012-09-14	2012-09-14	ENSG00000172073	ENSG00000172073			26341	protein-coding gene	gene with protein product	"""Testis-Specific Conserved gene 21kDa"""		"""chromosome 2 open reading frame 51"""	C2orf51		17091336	Standard	NM_152670		Approved	FLJ25369, TSC21	uc002stb.2	Q96LM6	OTTHUMG00000130332	ENST00000303254.3:c.299G>A	2.37:g.88828748G>A	ENSP00000307142:p.Arg100His						p.R100H	NM_152670.2	NP_689883.1					4	441	+									Missense_Mutation	SNP	ENST00000303254.3	37	c.299G>A	CCDS2003.1	.	.	.	.	.	.	.	.	.	.	G	3.266	-0.150187	0.06585	.	.	ENSG00000172073	ENST00000303254	T	0.44083	0.93	4.08	-0.218	0.13142	.	2.245710	0.01529	N	0.018709	T	0.22820	0.0551	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13469	-1.0508	10	0.15066	T	0.55	0.6341	6.7245	0.23348	0.517:0.0:0.483:0.0	.	100	Q96LM6	TSC21_HUMAN	H	100	ENSP00000307142:R100H	ENSP00000307142:R100H	R	+	2	0	C2orf51	88609863	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.136000	0.10405	-0.047000	0.13423	-1.450000	0.01041	CGC		0.587	TEX37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252682.1	NM_152670		5	623	0	0	0	1	0	5	623				
EPHX2	2053	broad.mit.edu	37	8	27373915	27373915	+	Splice_Site	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:27373915G>A	ENST00000521400.1	+	8	1340	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	EPHX2_ENST00000517536.1_Splice_Site_p.E121K|EPHX2_ENST00000380476.3_Splice_Site_p.E251K|EPHX2_ENST00000518379.1_Splice_Site_p.E272K|EPHX2_ENST00000521780.1_Splice_Site_p.E238K	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	304	Epoxide hydrolase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		TGCTCCTCCCGGTGGGTGTGC	0.567											OREG0018668	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000521400.1																			0				cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27						c.e8+1		epoxide hydrolase 2, cytoplasmic	Tamoxifen(DB00675)						290.0	250.0	264.0					8																	27373915		2203	4300	6503	SO:0001630	splice_region_variant	2053				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity	g.chr8:27373915G>A	L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.910+1G>A	8.37:g.27373915G>A			OREG0018668	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	793	EPHX2_ENST00000518379.1_Splice_Site_p.E272_splice|EPHX2_ENST00000517536.1_Splice_Site_p.E121_splice|EPHX2_ENST00000380476.3_Splice_Site_p.E251_splice|EPHX2_ENST00000521780.1_Splice_Site_p.E238_splice	p.E304_splice	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	8	1340	+		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)	304			Epoxide hydrolase.		B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Splice_Site	SNP	ENST00000521400.1	37	c.910_splice	CCDS6060.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299688	0.40694	.	.	ENSG00000120915	ENST00000521400;ENST00000517536;ENST00000521780;ENST00000380476;ENST00000415449;ENST00000518379	T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03	5.67	5.67	0.87782	Alpha/beta hydrolase fold-1 (1);	0.288097	0.42821	D	0.000645	T	0.65749	0.2721	M	0.80183	2.485	0.80722	D	1	B;B;B	0.25521	0.026;0.109;0.128	B;B;B	0.20955	0.031;0.028;0.032	T	0.63761	-0.6564	10	0.39692	T	0.17	-5.1595	17.2762	0.87116	0.0:0.0:1.0:0.0	.	272;304;304	E5RFU2;E7ETW9;P34913	.;.;HYES_HUMAN	K	304;121;238;251;308;272	ENSP00000430269:E304K;ENSP00000428875:E121K;ENSP00000430302:E238K;ENSP00000369843:E251K;ENSP00000427956:E272K	ENSP00000369843:E251K	E	+	1	0	EPHX2	27429832	1.000000	0.71417	0.736000	0.30914	0.054000	0.15201	5.558000	0.67319	2.677000	0.91161	0.561000	0.74099	GAA		0.567	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219954.4		Missense_Mutation	6	791	0	0	0	1	0	6	791				
TNKS1BP1	85456	broad.mit.edu	37	11	57077417	57077417	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:57077417G>A	ENST00000532437.1	-	5	3079	c.2768C>T	c.(2767-2769)gCc>gTc	p.A923V	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A923V|TNKS1BP1_ENST00000530920.1_5'UTR			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	923	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.A923V(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTGCTCATCGGCATCCTGGCT	0.572																																						ENST00000532437.1																			1	Substitution - Missense(1)	p.A923V(1)	kidney(1)	breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2767-2769)gCc>gTc		tankyrase 1 binding protein 1, 182kDa							186.0	181.0	182.0					11																	57077417		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57077417G>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.2768C>T	11.37:g.57077417G>A	ENSP00000437271:p.Ala923Val					TNKS1BP1_ENST00000530920.1_5'UTR|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A923V	p.A923V			Q9C0C2	TB182_HUMAN			5	3079	-		all_epithelial(135;0.21)	923			Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.2768C>T	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.209903	0.39003	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.34472	1.36;1.36	5.47	1.3	0.21679	.	0.803739	0.10698	N	0.644437	T	0.42223	0.1193	L	0.59436	1.845	0.09310	N	1	D	0.54964	0.969	P	0.55011	0.766	T	0.22977	-1.0201	10	0.46703	T	0.11	-0.6792	3.1082	0.06348	0.1593:0.1452:0.5597:0.1357	.	923	Q9C0C2	TB182_HUMAN	V	923	ENSP00000350990:A923V;ENSP00000437271:A923V	ENSP00000350990:A923V	A	-	2	0	TNKS1BP1	56833993	0.000000	0.05858	0.002000	0.10522	0.117000	0.20001	0.116000	0.15561	0.245000	0.21373	0.462000	0.41574	GCC		0.572	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		8	962	0	0	0	1	0	8	962				
SEPHS2	22928	broad.mit.edu	37	16	30456444	30456444	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:30456444G>A	ENST00000478753.2	-	1	1058	c.605C>T	c.(604-606)gCg>gTg	p.A202V	SEPHS2_ENST00000542752.1_Missense_Mutation_p.A145V|SEPHS2_ENST00000500504.2_Missense_Mutation_p.A202V			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	202					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						TTCCTCAGCCGCATCCCGAAA	0.527																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)	ENST00000478753.2																			0				breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						c.(604-606)gCg>gTg		selenophosphate synthetase 2							116.0	113.0	114.0					16																	30456444		2151	4240	6391	SO:0001583	missense	22928				selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity	g.chr16:30456444G>A	BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.605C>T	16.37:g.30456444G>A	ENSP00000418669:p.Ala202Val					SEPHS2_ENST00000542752.1_Missense_Mutation_p.A145V|SEPHS2_ENST00000500504.2_Missense_Mutation_p.A202V	p.A202V			Q99611	SPS2_HUMAN			1	1058	-			202					Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	37	c.605C>T		.	.	.	.	.	.	.	.	.	.	G	16.10	3.028524	0.54790	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.33865	1.39;1.39;1.39	5.51	5.51	0.81932	PurM, N-terminal-like (1);AIR synthase-related protein (1);	0.000000	0.85682	D	0.000000	T	0.31104	0.0786	L	0.39514	1.22	0.80722	D	1	P;P	0.42409	0.779;0.658	B;B	0.39027	0.288;0.079	T	0.03175	-1.1064	10	0.17369	T	0.5	-16.5139	17.2963	0.87171	0.0:0.0:1.0:0.0	.	202;145	Q99611;F5H8F9	SPS2_HUMAN;.	V	202;145;153;202	ENSP00000418669:A202V;ENSP00000443601:A145V;ENSP00000426234:A202V	ENSP00000390233:A153V	A	-	2	0	SEPHS2	30363945	1.000000	0.71417	0.791000	0.31998	0.233000	0.25261	9.366000	0.97143	2.759000	0.94783	0.563000	0.77884	GCG		0.527	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	NM_012248		5	583	0	0	0	1	0	5	583				
SNHG14	104472715	broad.mit.edu	37	15	25427509	25427509	+	RNA	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr15:25427509C>T	ENST00000424208.1	+	0	272				SNHG14_ENST00000441592.2_RNA|SNORD115-6_ENST00000363942.1_RNA|SNORD115-8_ENST00000363856.1_RNA|SNHG14_ENST00000365306.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		GATGCGTGTGCGGGGAAGGGG	0.537																																						ENST00000424208.1																			0																				184.0	191.0	189.0					15																	25427509		876	1990	2866			0							g.chr15:25427509C>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25427509C>T								NR_003305.1						0	272	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.537	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			7	845	0	0	0	1	0	7	845				
KRTAP4-11	653240	broad.mit.edu	37	17	39274416	39274416	+	Missense_Mutation	SNP	C	C	T	rs408579	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:39274416C>T	ENST00000391413.2	-	1	190	c.152G>A	c.(151-153)aGg>aAg	p.R51K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.R51K(1)		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)			GCACTGGGGCCTGCAGCAGCT	0.672													t|||	242	0.0483227	0.1248	0.0202	5008	,	,		19066	0.005		0.0219	False		,,,				2504	0.0368					ENST00000391413.2																			1	Substitution - Missense(1)	p.R51K(1)	endometrium(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(151-153)aGg>aAg		keratin associated protein 4-11							9.0	15.0	13.0					17																	39274416		682	1579	2261	SO:0001583	missense	653240					keratin filament		g.chr17:39274416C>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.152G>A	17.37:g.39274416C>T	ENSP00000375232:p.Arg51Lys						p.R51K	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	190	-		Breast(137;0.000496)	51		Missing (in allele KAP4.14).	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.152G>A	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	4.205	0.036712	0.08148	.	.	ENSG00000212721	ENST00000391413	T	0.01455	4.87	3.47	-1.13	0.09775	.	2.855670	0.02563	U	0.096976	T	0.02610	0.0079	M	0.72118	2.19	0.09310	N	1	B	0.25441	0.126	B	0.28916	0.096	T	0.52283	-0.8596	10	0.05959	T	0.93	.	3.7627	0.08610	0.1684:0.4051:0.0:0.4265	rs408579	51	Q9BYQ6	KR411_HUMAN	K	51	ENSP00000375232:R51K	ENSP00000375232:R51K	R	-	2	0	KRTAP4-11	36527942	0.000000	0.05858	0.002000	0.10522	0.072000	0.16883	-0.738000	0.04871	-0.091000	0.12440	-0.208000	0.12717	AGG		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			6	410	0	0	0	1	0	6	410				
HAS2	3037	broad.mit.edu	37	8	122626809	122626809	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:122626809C>T	ENST00000303924.4	-	4	1736	c.1199G>A	c.(1198-1200)cGg>cAg	p.R400Q		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	400					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AATTTTACCCCGGTAGAAGAG	0.413																																						ENST00000303924.4																		HAS2/PLAG1(10)	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38						c.(1198-1200)cGg>cAg		hyaluronan synthase 2							123.0	119.0	120.0					8																	122626809		2203	4300	6503	SO:0001583	missense	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122626809C>T	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.1199G>A	8.37:g.122626809C>T	ENSP00000306991:p.Arg400Gln						p.R400Q	NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		4	1736	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		400					Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	c.1199G>A	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837061	0.32421	.	.	ENSG00000170961	ENST00000303924	T	0.59083	0.29	6.04	6.04	0.98038	.	0.096875	0.64402	N	0.000001	T	0.48114	0.1482	L	0.37630	1.12	0.50171	D	0.999857	B	0.19583	0.037	B	0.19666	0.026	T	0.48186	-0.9057	10	0.02654	T	1	-10.3761	20.5792	0.99380	0.0:1.0:0.0:0.0	.	400	Q92819	HAS2_HUMAN	Q	400	ENSP00000306991:R400Q	ENSP00000306991:R400Q	R	-	2	0	HAS2	122695990	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.848000	0.55903	2.873000	0.98535	0.561000	0.74099	CGG		0.413	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		130	686	0	0	0	1	0	130	686				
BTN2A3P	54718	broad.mit.edu	37	6	26431077	26431077	+	RNA	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:26431077G>A	ENST00000466808.2	+	0	1447							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											AGCATTCCGGGCAACCCAGAG	0.517																																						ENST00000466808.2																			0																				116.0	115.0	115.0					6																	26431077		2203	4300	6503			0							g.chr6:26431077G>A	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26431077G>A														0	1447	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.517	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		5	524	0	0	0	1	0	5	524				
CCDC88C	440193	broad.mit.edu	37	14	91760540	91760540	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr14:91760540G>A	ENST00000389857.6	-	23	4175	c.4089C>T	c.(4087-4089)taC>taT	p.Y1363Y		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1363					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GCTCCTCATGGTACTGCTCCT	0.542																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(4087-4089)taC>taT		coiled-coil domain containing 88C							258.0	272.0	267.0					14																	91760540		2139	4251	6390	SO:0001819	synonymous_variant	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91760540G>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.4089C>T	14.37:g.91760540G>A							p.Y1363Y	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			23	4175	-		all_cancers(154;0.0468)	1363					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Silent	SNP	ENST00000389857.6	37	c.4089C>T	CCDS45151.1																																																																																				0.542	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		146	735	0	0	0	1	0	146	735				
VWA3B	200403	broad.mit.edu	37	2	98736133	98736133	+	Missense_Mutation	SNP	G	G	A	rs200875707		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:98736133G>A	ENST00000477737.1	+	4	653	c.449G>A	c.(448-450)gGc>gAc	p.G150D	VWA3B_ENST00000451075.2_Intron|VWA3B_ENST00000435344.1_Missense_Mutation_p.G150D	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	150										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GATTTTGGCGGCATTCTGGAG	0.522																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(448-450)gGc>gAc		von Willebrand factor A domain containing 3B							192.0	187.0	189.0					2																	98736133		1991	4149	6140	SO:0001583	missense	200403							g.chr2:98736133G>A	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.449G>A	2.37:g.98736133G>A	ENSP00000417955:p.Gly150Asp					VWA3B_ENST00000451075.2_Intron|VWA3B_ENST00000435344.1_Missense_Mutation_p.G150D	p.G150D	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			4	653	+			150					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.449G>A	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	1.464	-0.561569	0.03939	.	.	ENSG00000168658	ENST00000435344;ENST00000477737	T;T	0.35973	1.28;1.28	6.02	-3.25	0.05079	.	1.332560	0.04551	N	0.389819	T	0.19967	0.0480	N	0.17474	0.49	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.13407	0.009;0.002	T	0.17501	-1.0367	10	0.32370	T	0.25	.	4.4567	0.11647	0.553:0.1139:0.2439:0.0893	.	150;150	Q502W6;Q502W6-8	VWA3B_HUMAN;.	D	150	ENSP00000401959:G150D;ENSP00000417955:G150D	ENSP00000411168:G150D	G	+	2	0	VWA3B	98102565	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	0.140000	0.16056	-0.462000	0.06984	-0.150000	0.13652	GGC		0.522	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		7	1056	0	0	0	1	0	7	1056				
SLC35G3	146861	broad.mit.edu	37	17	33520392	33520392	+	Missense_Mutation	SNP	G	G	C	rs375936006		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:33520392G>C	ENST00000297307.5	-	1	1020	c.935C>G	c.(934-936)gCg>gGg	p.A312G	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	312	EamA 2.					integral component of membrane (GO:0016021)		p.A312G(4)									AACCCCTGCCGCCACGATGTC	0.567																																						ENST00000297307.5																			4	Substitution - Missense(4)	p.A312G(4)	kidney(4)								c.(934-936)gCg>gGg		solute carrier family 35, member G3							142.0	127.0	132.0					17																	33520392		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33520392G>C	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.935C>G	17.37:g.33520392G>C	ENSP00000297307:p.Ala312Gly						p.A312G	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	1020	-			312			DUF6 2.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.935C>G	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.804722	0.00611	.	.	ENSG00000164729	ENST00000297307	T	0.57273	0.41	.	.	.	.	0.000000	0.45126	N	0.000398	T	0.11067	0.0270	N	0.01048	-1.04	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.30475	-0.9977	8	0.02654	T	1	-1.3046	.	.	.	.	312	Q8N808	S35G3_HUMAN	G	312	ENSP00000297307:A312G	ENSP00000297307:A312G	A	-	2	0	SLC35G3	30544505	1.000000	0.71417	0.032000	0.17829	0.032000	0.12392	1.924000	0.40065	-2.418000	0.00566	-2.366000	0.00237	GCG		0.567	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		7	659	0	0	0	1	0	7	659				
SLC6A13	6540	broad.mit.edu	37	12	346453	346453	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:346453C>T	ENST00000343164.4	-	6	619	c.567G>A	c.(565-567)cgG>cgA	p.R189R	SLC6A13_ENST00000445055.2_Silent_p.R97R	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	189					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TCAAGACCCGCCGCCTGGGGA	0.622																																						ENST00000343164.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28						c.(565-567)cgG>cgA		solute carrier family 6 (neurotransmitter transporter), member 13							47.0	53.0	51.0					12																	346453		2203	4300	6503	SO:0001819	synonymous_variant	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:346453C>T	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.567G>A	12.37:g.346453C>T						SLC6A13_ENST00000445055.2_Silent_p.R97R	p.R189R	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		6	619	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		189					B4DJL1|Q8TCC2|Q8WW56	Silent	SNP	ENST00000343164.4	37	c.567G>A	CCDS8502.1																																																																																				0.622	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		5	432	0	0	0	1	0	5	432				
RRN3P2	653390	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.L368P(6)									TTGCAGTATCTTCAGAGTCTG	0.328																																						ENST00000564580.1																			6	Substitution - Missense(6)	p.L368P(6)	endometrium(5)|kidney(1)																																																0							g.chr16:29110438T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110438T>C														0	1111	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	t	5.164	0.215759	0.09810	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	U	0.000008	T	0.52645	0.1747	.	.	.	.	.	.	.	.	.	.	.	.	T	0.63580	-0.6605	5	0.56958	D	0.05	.	7.5159	0.27600	0.0:0.0:0.0:1.0	.	.	.	.	P	368	.	ENSP00000398611:L368P	L	+	2	0	AC009093.1	29017939	1.000000	0.71417	0.752000	0.31206	0.354000	0.29330	6.384000	0.73177	0.893000	0.36288	0.155000	0.16302	CTT		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		7	290	0	0	0	1	0	7	290				
CNGA4	1262	broad.mit.edu	37	11	6261426	6261426	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:6261426G>A	ENST00000379936.2	+	4	517	c.402G>A	c.(400-402)ccG>ccA	p.P134P	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	134					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCTGGGCCCGCACACACCCA	0.617																																						ENST00000379936.2																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40						c.(400-402)ccG>ccA		cyclic nucleotide gated channel alpha 4							108.0	111.0	110.0					11																	6261426		2201	4296	6497	SO:0001819	synonymous_variant	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6261426G>A	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.402G>A	11.37:g.6261426G>A						CNGA4_ENST00000533426.1_Intron	p.P134P	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	517	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	134						Silent	SNP	ENST00000379936.2	37	c.402G>A	CCDS31408.1																																																																																				0.617	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		8	1046	0	0	0	1	0	8	1046				
F13A1	2162	broad.mit.edu	37	6	6318801	6318801	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:6318801G>A	ENST00000264870.3	-	2	362	c.97C>T	c.(97-99)Cag>Tag	p.Q33*		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	33					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	ACCACGCCCTGAAGCTCCACT	0.602																																						ENST00000264870.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(97-99)Cag>Tag		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)						141.0	124.0	129.0					6																	6318801		2203	4300	6503	SO:0001587	stop_gained	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6318801G>A	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.97C>T	6.37:g.6318801G>A	ENSP00000264870:p.Gln33*						p.Q33*	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			2	362	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	33					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Nonsense_Mutation	SNP	ENST00000264870.3	37	c.97C>T	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708509	0.30322	.	.	ENSG00000124491	ENST00000264870;ENST00000441301;ENST00000414279;ENST00000431222	.	.	.	4.64	2.72	0.32119	.	0.685255	0.14021	N	0.346817	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	6.3836	0.21548	0.1029:0.3924:0.5047:0.0	.	.	.	.	X	33;33;33;71	.	ENSP00000264870:Q33X	Q	-	1	0	F13A1	6263800	0.009000	0.17119	0.141000	0.22245	0.004000	0.04260	1.095000	0.30964	1.130000	0.42092	0.643000	0.83706	CAG		0.602	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		7	671	0	0	0	1	0	7	671				
MELK	9833	broad.mit.edu	37	9	36665452	36665452	+	Missense_Mutation	SNP	A	A	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:36665452A>G	ENST00000298048.2	+	14	1466	c.1282A>G	c.(1282-1284)Act>Gct	p.T428A	MELK_ENST00000536987.1_Missense_Mutation_p.T297A|MELK_ENST00000538311.1_Missense_Mutation_p.T234A|MELK_ENST00000545008.1_Missense_Mutation_p.T357A|MELK_ENST00000536329.1_Missense_Mutation_p.T357A|MELK_ENST00000543751.1_Missense_Mutation_p.T396A|MELK_ENST00000541717.1_Missense_Mutation_p.T387A|MELK_ENST00000536860.1_Missense_Mutation_p.T380A	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	428	Autoinhibitory region.			T -> A (in Ref. 3; BAH11482). {ECO:0000305}.	apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			AAATGTATATACTCCTAAGTC	0.368																																					Ovarian(82;980 1317 7225 14391 18624)	ENST00000543751.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29						c.(1186-1188)Act>Gct		maternal embryonic leucine zipper kinase							82.0	84.0	83.0					9																	36665452		2203	4299	6502	SO:0001583	missense	9833					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:36665452A>G	D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.1282A>G	9.37:g.36665452A>G	ENSP00000298048:p.Thr428Ala					MELK_ENST00000545008.1_Missense_Mutation_p.T357A|MELK_ENST00000541717.1_Missense_Mutation_p.T387A|MELK_ENST00000536987.1_Missense_Mutation_p.T297A|MELK_ENST00000536329.1_Missense_Mutation_p.T357A|MELK_ENST00000298048.2_Missense_Mutation_p.T428A|MELK_ENST00000536860.1_Missense_Mutation_p.T380A|MELK_ENST00000538311.1_Missense_Mutation_p.T234A	p.T396A	NM_001256689.1	NP_001243618.1	Q14680	MELK_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		13	1331	+		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	428					A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Missense_Mutation	SNP	ENST00000298048.2	37	c.1186A>G	CCDS6606.1	.	.	.	.	.	.	.	.	.	.	A	11.72	1.722290	0.30503	.	.	ENSG00000165304	ENST00000298048;ENST00000538311;ENST00000536987;ENST00000545008;ENST00000536860;ENST00000536329;ENST00000541717;ENST00000543751	T;T;T;T;T;T;T;T	0.71222	-0.37;0.61;0.41;0.94;0.32;-0.55;-0.37;-0.37	5.65	5.65	0.86999	.	0.373797	0.33110	N	0.005277	T	0.64305	0.2586	L	0.54323	1.7	0.30079	N	0.809352	B;B;B;B;B;B;B	0.22276	0.001;0.015;0.002;0.001;0.014;0.067;0.001	B;B;B;B;B;B;B	0.20767	0.002;0.007;0.011;0.006;0.021;0.031;0.002	T	0.58470	-0.7631	10	0.15499	T	0.54	-1.347	13.825	0.63346	1.0:0.0:0.0:0.0	.	348;357;380;387;357;396;428	B7Z1G6;F5H2R4;F5H0Y0;F5H689;A6P3A8;A6P3A7;Q14680	.;.;.;.;.;.;MELK_HUMAN	A	428;234;297;357;380;357;387;396	ENSP00000298048:T428A;ENSP00000438226:T234A;ENSP00000439184:T297A;ENSP00000445452:T357A;ENSP00000439792:T380A;ENSP00000443550:T357A;ENSP00000437804:T387A;ENSP00000441596:T396A	ENSP00000298048:T428A	T	+	1	0	MELK	36655452	0.976000	0.34144	0.997000	0.53966	0.749000	0.42624	3.706000	0.54830	2.146000	0.66826	0.528000	0.53228	ACT		0.368	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	NM_014791		68	332	0	0	0	1	0	68	332				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		25	344	0	0	0	1	0	25	344				
ITPR3	3710	broad.mit.edu	37	6	33641396	33641396	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:33641396G>A	ENST00000374316.5	+	24	4017	c.2957G>A	c.(2956-2958)cGc>cAc	p.R986H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R986H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	986					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.R986H(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CTGGATTACCGCATATCCTAC	0.542																																						ENST00000374316.5																			2	Substitution - Missense(2)	p.R986H(2)	lung(2)	NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(2956-2958)cGc>cAc		inositol 1,4,5-trisphosphate receptor, type 3							286.0	244.0	258.0					6																	33641396		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33641396G>A	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.2957G>A	6.37:g.33641396G>A	ENSP00000363435:p.Arg986His					ITPR3_ENST00000605930.1_Missense_Mutation_p.R986H	p.R986H			Q14573	ITPR3_HUMAN			24	4017	+			986					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.2957G>A	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	35	5.519772	0.96416	.	.	ENSG00000096433	ENST00000374316	T	0.64260	-0.09	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.79575	0.4469	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.83177	-0.0091	10	0.87932	D	0	-28.8961	19.1061	0.93296	0.0:0.0:1.0:0.0	.	986	Q14573	ITPR3_HUMAN	H	986	ENSP00000363435:R986H	ENSP00000363435:R986H	R	+	2	0	ITPR3	33749374	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.574000	0.86865	0.655000	0.94253	CGC		0.542	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		8	1056	0	0	0	1	0	8	1056				
SIN3A	25942	broad.mit.edu	37	15	75703966	75703966	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr15:75703966G>A	ENST00000394947.3	-	6	1189	c.875C>T	c.(874-876)aCg>aTg	p.T292M	SIN3A_ENST00000394949.4_Missense_Mutation_p.T292M|SIN3A_ENST00000360439.4_Missense_Mutation_p.T292M	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GGATGGGGCCGTTCCCAACGA	0.517																																						ENST00000394947.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						c.(874-876)aCg>aTg		SIN3 transcription regulator family member A							205.0	192.0	196.0					15																	75703966		2197	4294	6491	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75703966G>A	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.875C>T	15.37:g.75703966G>A	ENSP00000378402:p.Thr292Met					SIN3A_ENST00000394949.4_Missense_Mutation_p.T292M|SIN3A_ENST00000360439.4_Missense_Mutation_p.T292M	p.T292M	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN			6	1189	-			292			Interaction with REST (By similarity).			Missense_Mutation	SNP	ENST00000394947.3	37	c.875C>T	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.445493	0.63178	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.47528	0.84;0.84;0.84	6.06	6.06	0.98353	.	0.090368	0.85682	D	0.000000	T	0.34395	0.0896	N	0.22421	0.69	0.80722	D	1	P	0.48998	0.918	B	0.36030	0.216	T	0.10314	-1.0635	10	0.30854	T	0.27	-12.2568	19.6164	0.95636	0.0:0.0:1.0:0.0	.	292	Q96ST3	SIN3A_HUMAN	M	292	ENSP00000378402:T292M;ENSP00000378403:T292M;ENSP00000353622:T292M	ENSP00000353622:T292M	T	-	2	0	SIN3A	73491019	1.000000	0.71417	0.986000	0.45419	0.925000	0.55904	7.229000	0.78088	2.871000	0.98454	0.655000	0.94253	ACG		0.517	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		7	1089	0	0	0	1	0	7	1089				
EZH1	2145	broad.mit.edu	37	17	40865346	40865346	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:40865346C>T	ENST00000428826.2	-	11	1206	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	EZH1_ENST00000590078.1_Missense_Mutation_p.R292Q|EZH1_ENST00000435174.1_Missense_Mutation_p.R223Q|EZH1_ENST00000585893.1_Missense_Mutation_p.R322Q|EZH1_ENST00000592743.1_Missense_Mutation_p.R362Q|EZH1_ENST00000415827.2_Missense_Mutation_p.R353Q			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	362					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		GTGCCTTCTCCGGCGACGACC	0.552																																						ENST00000428826.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27						c.(1084-1086)cGg>cAg		enhancer of zeste homolog 1 (Drosophila)							119.0	102.0	108.0					17																	40865346		2203	4300	6503	SO:0001583	missense	2145				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding	g.chr17:40865346C>T		CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1085G>A	17.37:g.40865346C>T	ENSP00000404658:p.Arg362Gln					EZH1_ENST00000592743.1_Missense_Mutation_p.R362Q|EZH1_ENST00000435174.1_Missense_Mutation_p.R223Q|EZH1_ENST00000415827.2_Missense_Mutation_p.R353Q|EZH1_ENST00000590078.1_Missense_Mutation_p.R292Q|EZH1_ENST00000585893.1_Missense_Mutation_p.R322Q	p.R362Q			Q92800	EZH1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0784)	11	1206	-		Breast(137;0.00104)	362					A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	37	c.1085G>A	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008400	0.75046	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	D;D	0.86030	-2.06;-2.06	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.79718	0.4494	L	0.46157	1.445	0.58432	D	0.999998	P;P;P;P;P	0.46656	0.764;0.882;0.882;0.72;0.812	B;B;B;B;B	0.35859	0.212;0.209;0.209;0.209;0.149	T	0.78558	-0.2158	10	0.22706	T	0.39	.	19.0657	0.93108	0.0:1.0:0.0:0.0	.	223;322;368;292;362	Q92800-5;Q92800-3;Q92800-2;Q92800-4;Q92800	.;.;.;.;EZH1_HUMAN	Q	365;362;322;223	ENSP00000404658:R362Q;ENSP00000404071:R223Q	ENSP00000264646:R365Q	R	-	2	0	EZH1	38118872	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.590000	0.74085	2.734000	0.93682	0.555000	0.69702	CGG		0.552	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		5	522	0	0	0	1	0	5	522				
TMEM132D	121256	broad.mit.edu	37	12	129558549	129558549	+	Silent	SNP	G	G	A	rs74724941	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:129558549G>A	ENST00000422113.2	-	9	3497	c.3171C>T	c.(3169-3171)gaC>gaT	p.D1057D	TMEM132D_ENST00000389441.4_Silent_p.D595D	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1057					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.D1057E(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGGGGTACTCGTCGTCTGAGG	0.512													G|||	13	0.00259585	0.0	0.0	5008	,	,		20710	0.0129		0.0	False		,,,				2504	0.0					ENST00000422113.2																			1	Substitution - Missense(1)	p.D1057E(1)	ovary(1)	NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(3169-3171)gaC>gaT		transmembrane protein 132D		G		3,4403	6.2+/-15.9	0,3,2200	155.0	152.0	153.0		3171	-5.4	0.0	12	dbSNP_131	153	0,8600		0,0,4300	no	coding-synonymous	TMEM132D	NM_133448.2		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		1057/1100	129558549	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:129558549G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.3171C>T	12.37:g.129558549G>A						TMEM132D_ENST00000389441.4_Silent_p.D595D	p.D1057D	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	3497	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	1057					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.3171C>T	CCDS9266.1																																																																																				0.512	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		57	505	0	0	0	1	0	57	505				
D2HGDH	728294	broad.mit.edu	37	2	242695353	242695353	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:242695353G>A	ENST00000321264.4	+	9	1439	c.1230G>A	c.(1228-1230)cgG>cgA	p.R410R	D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Silent_p.R276R|AC114730.7_ENST00000417267.1_RNA	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	410					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CTGTGGAGCGGCTCTACGACA	0.672																																						ENST00000321264.4																			0				breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16						c.(1228-1230)cgG>cgA		D-2-hydroxyglutarate dehydrogenase							118.0	95.0	103.0					2																	242695353		2203	4296	6499	SO:0001819	synonymous_variant	728294				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	g.chr2:242695353G>A	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.1230G>A	2.37:g.242695353G>A						D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Silent_p.R276R	p.R410R	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	9	1439	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	410					B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Silent	SNP	ENST00000321264.4	37	c.1230G>A	CCDS33426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.94|15.94	2.981055|2.981055	0.53827|0.53827	.|.	.|.	ENSG00000180902|ENSG00000180902	ENST00000432449|ENST00000445308	.|.	.|.	.|.	5.31|5.31	1.28|1.28	0.21552|0.21552	.|.	.|.	.|.	.|.	.|.	T|T	0.58409|0.58409	0.2120|0.2120	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.49303|0.49303	-0.8954|-0.8954	5|4	0.21540|.	T|.	0.41|.	-0.9944|-0.9944	10.3732|10.3732	0.44066|0.44066	0.1261:0.2087:0.6652:0.0|0.1261:0.2087:0.6652:0.0	.|.	.|.	.|.	.|.	T|D	164|209	.|.	ENSP00000383580:A315T|.	A|G	+|+	1|2	0|0	D2HGDH|D2HGDH	242344026|242344026	1.000000|1.000000	0.71417|0.71417	0.338000|0.338000	0.25549|0.25549	0.114000|0.114000	0.19823|0.19823	1.969000|1.969000	0.40510|0.40510	-0.269000|-0.269000	0.09298|0.09298	-1.595000|-1.595000	0.00837|0.00837	GCT|GGC		0.672	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		5	504	0	0	0	1	0	5	504				
ARMCX3	51566	broad.mit.edu	37	X	100880318	100880318	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:100880318G>A	ENST00000341189.4	+	5	1215	c.349G>A	c.(349-351)Gtt>Att	p.V117I	ARMCX3_ENST00000471229.2_Missense_Mutation_p.V117I|ARMCX3_ENST00000537169.1_Missense_Mutation_p.V117I|RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3-AS1_ENST00000454228.1_RNA	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	117					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						AGATGATACCGTTTTGTCCCC	0.517																																						ENST00000341189.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(349-351)Gtt>Att		armadillo repeat containing, X-linked 3							66.0	58.0	61.0					X																	100880318		2200	4295	6495	SO:0001583	missense	51566					integral to membrane	binding	g.chrX:100880318G>A	AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"""Armadillo repeat containing"""	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.349G>A	X.37:g.100880318G>A	ENSP00000340672:p.Val117Ile					ARMCX3_ENST00000471229.2_Missense_Mutation_p.V117I|ARMCX3_ENST00000537169.1_Missense_Mutation_p.V117I	p.V117I	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN			5	1215	+			117					Q53HC6|Q7LCF5|Q9NPE4	Missense_Mutation	SNP	ENST00000341189.4	37	c.349G>A	CCDS14489.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.915094	0.00503	.	.	ENSG00000102401	ENST00000341189;ENST00000537169	T;T	0.28895	1.59;1.59	4.08	-5.45	0.02616	Armadillo-like helical (1);	0.708561	0.13313	N	0.397312	T	0.09113	0.0225	N	0.01640	-0.785	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.35748	-0.9776	9	.	.	.	-2.6702	12.8785	0.58003	0.2698:0.0:0.7302:0.0	.	117	Q9UH62	ARMX3_HUMAN	I	117	ENSP00000340672:V117I;ENSP00000439032:V117I	.	V	+	1	0	ARMCX3	100766974	0.031000	0.19500	0.318000	0.25279	0.907000	0.53573	-0.504000	0.06375	-1.484000	0.01856	-2.493000	0.00193	GTT		0.517	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	NM_016607		40	462	0	0	0	1	0	40	462				
CNTN1	1272	broad.mit.edu	37	12	41422975	41422975	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:41422975G>A	ENST00000551295.2	+	23	3051	c.2934G>A	c.(2932-2934)gcG>gcA	p.A978A	CNTN1_ENST00000348761.2_Silent_p.A967A|CNTN1_ENST00000347616.1_Silent_p.A978A	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	978	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGGTTCGCGCGCACAGTGATG	0.458																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(2932-2934)gcG>gcA		contactin 1							231.0	215.0	221.0					12																	41422975		2203	4300	6503	SO:0001819	synonymous_variant	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41422975G>A	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2934G>A	12.37:g.41422975G>A						CNTN1_ENST00000348761.2_Silent_p.A967A|CNTN1_ENST00000347616.1_Silent_p.A978A	p.A978A	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			23	3051	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	978			Fibronectin type-III 4.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	ENST00000551295.2	37	c.2934G>A	CCDS8737.1																																																																																				0.458	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		6	839	0	0	0	1	0	6	839				
SGPP1	81537	broad.mit.edu	37	14	64152974	64152974	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr14:64152974C>T	ENST00000247225.6	-	3	1269	c.1175G>A	c.(1174-1176)tGc>tAc	p.C392Y		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	392					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate metabolic process (GO:0006668)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		GAAGATTTTGCAGGCTAAAGG	0.378																																						ENST00000247225.6																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10						c.(1174-1176)tGc>tAc		sphingosine-1-phosphate phosphatase 1							160.0	147.0	152.0					14																	64152974		2203	4300	6503	SO:0001583	missense	81537					endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr14:64152974C>T	AJ293294	CCDS9760.1	14q23.1	2003-09-17			ENSG00000126821	ENSG00000126821			17720	protein-coding gene	gene with protein product		612826				10859351	Standard	NM_030791		Approved		uc001xgj.3	Q9BX95	OTTHUMG00000029080	ENST00000247225.6:c.1175G>A	14.37:g.64152974C>T	ENSP00000247225:p.Cys392Tyr						p.C392Y	NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)	3	1269	-			392					B2RAH0|Q9H189	Missense_Mutation	SNP	ENST00000247225.6	37	c.1175G>A	CCDS9760.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600744	0.46423	.	.	ENSG00000126821	ENST00000247225	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.75817	0.3901	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67581	-0.5634	9	0.02654	T	1	-10.149	20.6593	0.99626	0.0:1.0:0.0:0.0	.	392	Q9BX95	SGPP1_HUMAN	Y	392	.	ENSP00000247225:C392Y	C	-	2	0	SGPP1	63222727	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.416000	0.80143	2.885000	0.99019	0.655000	0.94253	TGC		0.378	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072626.3	NM_030791		5	469	0	0	0	1	0	5	469				
CXorf56	63932	broad.mit.edu	37	X	118699217	118699217	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:118699217G>A	ENST00000371594.4	-	1	180	c.102C>T	c.(100-102)tgC>tgT	p.C34C	CXorf56_ENST00000536133.1_Silent_p.C34C|CXorf56_ENST00000320339.4_5'UTR	NM_022101.3	NP_071384.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	34										cervix(1)|endometrium(2)|lung(7)	10						CCATCTGGCCGCACAAACAGT	0.577																																						ENST00000371594.4																			0				cervix(1)|endometrium(2)|lung(7)	10						c.(100-102)tgC>tgT		chromosome X open reading frame 56							78.0	75.0	76.0					X																	118699217		2203	4300	6503	SO:0001819	synonymous_variant	63932						protein binding	g.chrX:118699217G>A	AK026618	CCDS55484.1, CCDS55485.1	Xq24	2008-02-05			ENSG00000018610	ENSG00000018610			26239	protein-coding gene	gene with protein product						12477932	Standard	NM_022101		Approved	FLJ22965	uc004erk.2	Q9H5V9	OTTHUMG00000022276	ENST00000371594.4:c.102C>T	X.37:g.118699217G>A						CXorf56_ENST00000486230.1_Silent_p.C34C|CXorf56_ENST00000320339.4_5'UTR|CXorf56_ENST00000476164.1_Silent_p.C34C|CXorf56_ENST00000536133.1_Silent_p.C34C	p.C34C	NM_022101.3	NP_071384.1	Q9H5V9	CX056_HUMAN			1	180	-			34					A8MPX7|B4DQN2|D3DWH9|F5GWL7|O43351	Silent	SNP	ENST00000371594.4	37	c.102C>T	CCDS14579.1																																																																																				0.577	CXorf56-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022101		6	647	0	0	0	1	0	6	647				
SMG1	23049	broad.mit.edu	37	16	18880528	18880528	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:18880528C>T	ENST00000446231.2	-	20	3143	c.2731G>A	c.(2731-2733)Gtc>Atc	p.V911I	SMG1_ENST00000389467.3_Missense_Mutation_p.V911I|snoU13_ENST00000459248.1_RNA			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	911	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|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)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGCCAAAGGACAGCATCTGTC	0.488																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(2731-2733)Gtc>Atc		SMG1 phosphatidylinositol 3-kinase-related kinase							46.0	41.0	43.0					16																	18880528		1867	4064	5931	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18880528C>T	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.2731G>A	16.37:g.18880528C>T	ENSP00000402515:p.Val911Ile					SMG1_ENST00000389467.3_Missense_Mutation_p.V911I	p.V911I			Q96Q15	SMG1_HUMAN			20	3143	-			911			Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.2731G>A	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.036631	0.35893	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.11712	2.75;2.75	5.22	5.22	0.72569	Armadillo-type fold (1);	0.000000	0.49305	D	0.000156	T	0.12689	0.0308	L	0.33485	1.01	0.44660	D	0.997647	P	0.49961	0.93	P	0.45474	0.482	T	0.13415	-1.0510	10	0.20046	T	0.44	.	19.1566	0.93514	0.0:1.0:0.0:0.0	.	911	Q96Q15	SMG1_HUMAN	I	911	ENSP00000402515:V911I;ENSP00000374118:V911I	ENSP00000374118:V911I	V	-	1	0	SMG1	18788029	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.865000	0.62998	2.604000	0.88044	0.555000	0.69702	GTC		0.488	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		6	278	0	0	0	1	0	6	278				
NPTX2	4885	broad.mit.edu	37	7	98254285	98254285	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:98254285G>A	ENST00000265634.3	+	3	860	c.695G>A	c.(694-696)cGc>cAc	p.R232H		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	232	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.R232H(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CTCCCACTCCGCACAAACTAC	0.597																																						ENST00000265634.3																			1	Substitution - Missense(1)	p.R232H(1)	breast(1)	breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(694-696)cGc>cAc		neuronal pentraxin II							229.0	184.0	199.0					7																	98254285		2203	4300	6503	SO:0001583	missense	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98254285G>A		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.695G>A	7.37:g.98254285G>A	ENSP00000265634:p.Arg232His						p.R232H	NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		3	860	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		232			Pentaxin.		A4D267|Q86XV7|Q96G70	Missense_Mutation	SNP	ENST00000265634.3	37	c.695G>A	CCDS5657.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322440	0.81580	.	.	ENSG00000106236	ENST00000265634	T	0.16073	2.37	5.57	5.57	0.84162	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.56171	0.1967	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68977	-0.5267	10	0.87932	D	0	-16.1906	18.5305	0.90990	0.0:0.0:1.0:0.0	.	232	P47972	NPTX2_HUMAN	H	232	ENSP00000265634:R232H	ENSP00000265634:R232H	R	+	2	0	NPTX2	98092221	1.000000	0.71417	0.984000	0.44739	0.246000	0.25737	9.813000	0.99286	2.619000	0.88677	0.561000	0.74099	CGC		0.597	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		7	1369	0	0	0	1	0	7	1369				
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		11	99	0	0	0	1	0	11	99				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522727	95522727	+	RNA	SNP	C	C	A	rs201214605		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:95522727C>A	ENST00000432432.2	-	0	300					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.R64L(2)									CTGCTTGTCCCGGGCGTCCAG	0.731																																						ENST00000432432.2																			2	Substitution - Missense(2)	p.R64L(2)	lung(1)|kidney(1)																																																0							g.chr2:95522727C>A			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522727C>A								NR_040113.1						0	300	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.731	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	238	1	0	8.12818e-05	1	8.29021e-05	4	238				
CALML6	163688	broad.mit.edu	37	1	1848280	1848280	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:1848280G>A	ENST00000307786.3	+	4	797	c.343G>A	c.(343-345)Gca>Aca	p.A115T	CALML6_ENST00000462293.1_3'UTR	NM_138705.2	NP_619650.2	Q8TD86	CALL6_HUMAN	calmodulin-like 6	115	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.A115T(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCTGAGGGCGGCATTCCGTGT	0.597																																						ENST00000307786.3																			2	Substitution - Missense(2)	p.A115T(2)	prostate(1)|lung(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7						c.(343-345)Gca>Aca		calmodulin-like 6							98.0	107.0	104.0					1																	1848280		2203	4300	6503	SO:0001583	missense	163688					cytoplasm|nucleus	calcium ion binding	g.chr1:1848280G>A	AF490905	CCDS30566.1	1p36.33	2013-01-10			ENSG00000169885	ENSG00000169885		"""EF-hand domain containing"""	24193	protein-coding gene	gene with protein product		610171					Standard	NM_138705		Approved	CAGLP	uc001aih.1	Q8TD86	OTTHUMG00000000943	ENST00000307786.3:c.343G>A	1.37:g.1848280G>A	ENSP00000304643:p.Ala115Thr					CALML6_ENST00000462293.1_3'UTR	p.A115T	NM_138705.2	NP_619650.2	Q8TD86	CALL6_HUMAN		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	4	797	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	115			EF-hand 3.		A2A2M3|Q6Q2C4	Missense_Mutation	SNP	ENST00000307786.3	37	c.343G>A	CCDS30566.1	.	.	.	.	.	.	.	.	.	.	.	13.14	2.147600	0.37923	.	.	ENSG00000169885	ENST00000307786;ENST00000378604	T;T	0.74002	-0.8;-0.8	2.99	2.06	0.26882	EF-hand-like domain (1);	.	.	.	.	D	0.85035	0.5605	M	0.87038	2.855	0.27022	N	0.964453	D	0.89917	1.0	D	0.87578	0.998	T	0.73180	-0.4064	9	0.87932	D	0	.	5.8798	0.18848	0.1554:0.0:0.8446:0.0	.	115	Q8TD86	CALL6_HUMAN	T	115;98	ENSP00000304643:A115T;ENSP00000367867:A98T	ENSP00000304643:A115T	A	+	1	0	CALML6	1838140	0.056000	0.20664	0.030000	0.17652	0.359000	0.29487	1.847000	0.39299	0.594000	0.29761	0.313000	0.20887	GCA		0.597	CALML6-004	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276929.1	NM_138705		6	802	0	0	0	1	0	6	802				
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G	rs570843986	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		14619	0.002		0.0	False		,,,				2504	0.0					ENST00000280665.6																			8	Substitution - Missense(8)	p.Q252H(8)	endometrium(5)|lung(2)|large_intestine(1)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(754-756)caG>caC		decapping mRNA 1B							35.0	42.0	40.0					12																	2062350		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062350C>G	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.756G>C	12.37:g.2062350C>G	ENSP00000280665:p.Gln252His					DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR	p.Q252H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	835	-			252			Poly-Gln.		B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.756G>C	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.361713	0.01235	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.19250	2.19;2.17;2.16	4.04	-8.09	0.01090	.	1.568620	0.03045	N	0.153823	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15694	-1.0428	10	0.17369	T	0.5	.	12.662	0.56820	0.0881:0.1213:0.7178:0.0728	.	150;252	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	252;150;126	ENSP00000280665:Q252H;ENSP00000380358:Q150H;ENSP00000444374:Q126H	ENSP00000280665:Q252H	Q	-	3	2	DCP1B	1932611	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.268000	0.02836	-2.090000	0.00859	-2.175000	0.00321	CAG		0.552	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		6	285	0	0	0	1	0	6	285				
PCNT	5116	broad.mit.edu	37	21	47786815	47786815	+	Missense_Mutation	SNP	C	C	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr21:47786815C>A	ENST00000359568.5	+	15	3033	c.2926C>A	c.(2926-2928)Ctc>Atc	p.L976I	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	976					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)					ATCCTGTTACCTCTCTGAATT	0.537																																						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.(2926-2928)Ctc>Atc		pericentrin							84.0	92.0	89.0					21																	47786815		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47786815C>A	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.2926C>A	21.37:g.47786815C>A	ENSP00000352572:p.Leu976Ile					PCNT_ENST00000480896.1_3'UTR	p.L976I	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			15	3033	+	Breast(49;0.112)		976					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.2926C>A	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.280740	0.40294	.	.	ENSG00000160299	ENST00000359568	T	0.24908	1.83	5.36	3.45	0.39498	.	0.744958	0.10484	N	0.669220	T	0.40322	0.1112	M	0.64997	1.995	0.23700	N	0.99707	D;P	0.55800	0.973;0.954	P;P	0.53593	0.73;0.541	T	0.20840	-1.0263	10	0.36615	T	0.2	.	13.0171	0.58764	0.0:0.677:0.323:0.0	.	858;976	O95613-2;O95613	.;PCNT_HUMAN	I	976	ENSP00000352572:L976I	ENSP00000352572:L976I	L	+	1	0	PCNT	46611243	0.997000	0.39634	0.748000	0.31131	0.011000	0.07611	0.383000	0.20651	0.567000	0.29293	0.561000	0.74099	CTC		0.537	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		5	646	1	0	0.184627	1	0.185231	5	646				
ZNF280B	140883	broad.mit.edu	37	22	22842836	22842836	+	Missense_Mutation	SNP	T	T	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:22842836T>A	ENST00000406426.1	-	4	1630	c.888A>T	c.(886-888)gaA>gaT	p.E296D	ZNF280B_ENST00000360412.2_Missense_Mutation_p.E296D			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	296					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CCGGCTGCCCTTCTCCTTTAT	0.388																																						ENST00000360412.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22						c.(886-888)gaA>gaT		zinc finger protein 280B							130.0	121.0	124.0					22																	22842836		2203	4300	6503	SO:0001583	missense	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22842836T>A	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.888A>T	22.37:g.22842836T>A	ENSP00000385998:p.Glu296Asp					ZNF280B_ENST00000406426.1_Missense_Mutation_p.E296D	p.E296D	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	4	1663	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	296						Missense_Mutation	SNP	ENST00000406426.1	37	c.888A>T	CCDS13799.1	.	.	.	.	.	.	.	.	.	.	A	0.519	-0.862982	0.02610	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.02737	4.18;4.18	4.43	0.414	0.16406	.	.	.	.	.	T	0.00936	0.0031	N	0.01482	-0.84	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46470	-0.9189	9	0.02654	T	1	-0.9308	4.0725	0.09889	0.534:0.0:0.3014:0.1646	.	296	Q86YH2	Z280B_HUMAN	D	296	ENSP00000385998:E296D;ENSP00000353586:E296D	ENSP00000353586:E296D	E	-	3	2	ZNF280B	21172836	0.038000	0.19896	0.055000	0.19348	0.896000	0.52359	0.181000	0.16880	-0.387000	0.07809	-1.030000	0.02411	GAA		0.388	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		6	628	0	0	0	1	0	6	628				
OR51A2	401667	broad.mit.edu	37	11	4976163	4976163	+	Missense_Mutation	SNP	C	C	T	rs75797492	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:4976163C>T	ENST00000380371.1	-	1	780	c.781G>A	c.(781-783)Gtt>Att	p.V261I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGGTGGACAACGGCCAGGTTG	0.468													.|||	3	0.000599042	0.0023	0.0	5008	,	,		12557	0.0		0.0	False		,,,				2504	0.0					ENST00000380371.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(781-783)Gtt>Att		olfactory receptor, family 51, subfamily A, member 2			ILE/VAL	31,4207		5,21,2093	95.0	74.0	81.0		781	-2.5	0.0	11	dbSNP_131	81	1,7863		0,1,3931	no	missense	OR51A2	NM_001004748.1	29	5,22,6024	TT,TC,CC		0.0127,0.7315,0.2644	benign	261/314	4976163	32,12070	2119	3932	6051	SO:0001583	missense	401667				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4976163C>T	AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"""GPCR / Class A : Olfactory receptors"""	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.781G>A	11.37:g.4976163C>T	ENSP00000369729:p.Val261Ile					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.V261I	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	780	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	261						Missense_Mutation	SNP	ENST00000380371.1	37	c.781G>A	CCDS31368.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	-	1.405	-0.577068	0.03854	0.007315	1.27E-4	ENSG00000205496	ENST00000380371	T	0.34667	1.35	3.26	-2.5	0.06384	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.09113	0.0225	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.23762	-1.0179	9	0.25106	T	0.35	.	4.7352	0.12984	0.1471:0.3962:0.0:0.4567	.	261	Q8NGJ7	O51A2_HUMAN	I	261	ENSP00000369729:V261I	ENSP00000369729:V261I	V	-	1	0	OR51A2	4932739	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-6.751000	0.00055	-0.397000	0.07691	-0.367000	0.07326	GTT		0.468	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1	NM_001004748		91	272	0	0	0	1	0	91	272				
GGTLC1	92086	broad.mit.edu	37	20	23967157	23967157	+	Missense_Mutation	SNP	A	A	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr20:23967157A>G	ENST00000335694.4	-	2	296	c.92T>C	c.(91-93)aTg>aCg	p.M31T	GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	31					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)	p.M31T(6)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GTCATCCGGCATGTAGAACTC	0.622																																						ENST00000335694.4																			6	Substitution - Missense(6)	p.M31T(6)	lung(4)|NS(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(91-93)aTg>aCg		gamma-glutamyltransferase light chain 1							67.0	61.0	63.0					20																	23967157		2203	4300	6503	SO:0001583	missense	92086						gamma-glutamyltransferase activity	g.chr20:23967157A>G	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"""Gamma-glutamyltransferases"""	16437	protein-coding gene	gene with protein product		612338	"""gamma-glutamyltransferase-like activity 4"", ""gamma-glutamyltransferase-like activity 3"""	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.92T>C	20.37:g.23967157A>G	ENSP00000337587:p.Met31Thr					GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T	p.M31T	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN			2	296	-			31					D3DW43|Q08246	Missense_Mutation	SNP	ENST00000335694.4	37	c.92T>C	CCDS13163.1	.	.	.	.	.	.	.	.	.	.	a	0	-2.745202	0.00087	.	.	ENSG00000149435	ENST00000286890;ENST00000278765;ENST00000335694	T;T;T	0.05786	3.39;3.39;3.39	0.844	-1.69	0.08186	.	0.459428	0.22918	N	0.054055	T	0.01092	0.0036	N	0.00332	-1.63	0.20403	N	0.999909	B	0.02656	0.0	B	0.01281	0.0	T	0.28996	-1.0026	10	0.02654	T	1	-29.1837	4.9338	0.13930	0.5039:0.0:0.4961:0.0	.	31	Q9BX51	GGTL1_HUMAN	T	31	ENSP00000286890:M31T;ENSP00000278765:M31T;ENSP00000337587:M31T	ENSP00000278765:M31T	M	-	2	0	GGTLC1	23915157	0.993000	0.37304	0.024000	0.17045	0.024000	0.10985	1.453000	0.35167	-1.885000	0.01118	-1.888000	0.00539	ATG		0.622	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		8	345	0	0	0	1	0	8	345				
CELA2A	63036	broad.mit.edu	37	1	15783633	15783633	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:15783633C>T	ENST00000359621.4	+	2	118	c.93C>T	c.(91-93)ggC>ggT	p.G31G	CELA2A_ENST00000497590.1_3'UTR	NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	31	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						GGGTGGTTGGCGGTGAAGAAG	0.577																																						ENST00000359621.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						c.(91-93)ggC>ggT		chymotrypsin-like elastase family, member 2A							106.0	98.0	100.0					1																	15783633		2203	4300	6503	SO:0001819	synonymous_variant	63036				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15783633C>T		CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"""elastase 2A"""	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.93C>T	1.37:g.15783633C>T						CELA2A_ENST00000497590.1_3'UTR	p.G31G	NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN			2	118	+			31			Peptidase S1.		B2R5I4|Q14243	Silent	SNP	ENST00000359621.4	37	c.93C>T	CCDS157.1																																																																																				0.577	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006445.1	NM_033440		4	255	0	0	0	1	0	4	255				
MUC5AC	4586	broad.mit.edu	37	11	1155679	1155679	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:1155679C>T	ENST00000356191.2	+	5	365	c.365C>T	c.(364-366)aCg>aTg	p.T122M				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	1082	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CATCCAGCTACGCCGCAGCCA	0.632																																						ENST00000356191.2																			0				NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203						c.(364-366)aCg>aTg		mucin 5AC, oligomeric mucus/gel-forming							24.0	24.0	24.0					11																	1155679		874	1988	2862	SO:0001583	missense	4586							g.chr11:1155679C>T	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.365C>T	11.37:g.1155679C>T	ENSP00000348519:p.Thr122Met						p.T122M						BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)	5	365	+		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)						O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Missense_Mutation	SNP	ENST00000356191.2	37	c.365C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.426|2.426	-0.332055|-0.332055	0.05314|0.05314	.|.	.|.	ENSG00000215182|ENSG00000215182	ENST00000534821|ENST00000356191	T|T	0.60920|0.17054	0.15|2.3	3.46|3.46	2.43|2.43	0.29744|0.29744	.|.	.|.	.|.	.|.	.|.	T|T	0.43765|0.43765	0.1262|0.1262	M|M	0.91406|0.91406	3.205|3.205	.|.	.|.	.|.	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.65100|0.65100	-0.6250|-0.6250	8|6	0.87932|0.56958	D|D	0|0.05	.|.	12.3114|12.3114	0.54929|0.54929	0.2279:0.7721:0.0:0.0|0.2279:0.7721:0.0:0.0	.|.	123|.	A7Y9J9|.	.|.	C|M	123|122	ENSP00000435591:R123C|ENSP00000348519:T122M	ENSP00000435591:R123C|ENSP00000348519:T122M	R|T	+|+	1|2	0|0	MUC5AC|MUC5AC	1145679|1145679	0.495000|0.495000	0.26051|0.26051	0.837000|0.837000	0.33122|0.33122	0.059000|0.059000	0.15707|0.15707	0.877000|0.877000	0.28106|0.28106	1.917000|1.917000	0.55516|0.55516	0.443000|0.443000	0.29094|0.29094	CGC|ACG		0.632	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_001130382		17	124	0	0	0	1	0	17	124				
PTPN6	5777	broad.mit.edu	37	12	7060853	7060853	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:7060853G>A	ENST00000318974.9	+	2	334	c.90G>A	c.(88-90)cgG>cgA	p.R30R	PTPN6_ENST00000399448.1_Silent_p.R32R|PTPN6_ENST00000447931.2_Intron|PTPN6_ENST00000456013.1_Silent_p.R30R	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	30	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						TCCTGGCTCGGCCCAGTCGCA	0.662																																						ENST00000456013.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						c.(88-90)cgG>cgA		protein tyrosine phosphatase, non-receptor type 6							58.0	65.0	63.0					12																	7060853		1957	4160	6117	SO:0001819	synonymous_variant	5777				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity	g.chr12:7060853G>A		CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.90G>A	12.37:g.7060853G>A						PTPN6_ENST00000318974.9_Silent_p.R30R|PTPN6_ENST00000447931.2_Intron|PTPN6_ENST00000399448.1_Silent_p.R32R	p.R30R	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN			2	332	+			30			SH2 1.		A8K306|G3V0F8|Q969V8|Q9UK67	Silent	SNP	ENST00000318974.9	37	c.90G>A	CCDS44820.1																																																																																				0.662	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831		6	598	0	0	0	1	0	6	598				
FAM83G	644815	broad.mit.edu	37	17	18874844	18874844	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:18874844G>A	ENST00000388995.6	-	6	2523	c.2300C>T	c.(2299-2301)gCc>gTc	p.A767V	SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.A767V|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.A767V|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	767					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CATGGGGCGGGCATTTTGGGC	0.652																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(2299-2301)gCc>gTc		family with sequence similarity 83, member G							78.0	88.0	85.0					17																	18874844		1977	4145	6122	SO:0001583	missense	644815							g.chr17:18874844G>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.2300C>T	17.37:g.18874844G>A	ENSP00000373647:p.Ala767Val					FAM83G_ENST00000345041.4_Missense_Mutation_p.A767V|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.A767V|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron	p.A767V			A6ND36	FA83G_HUMAN			6	2523	-			767					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.2300C>T	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	G	7.947	0.743933	0.15642	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.12039	2.72;2.72	5.04	2.98	0.34508	.	1.318120	0.05124	N	0.491337	T	0.15219	0.0367	L	0.51422	1.61	0.09310	N	1	B	0.20261	0.043	B	0.19946	0.027	T	0.33085	-0.9882	10	0.23891	T	0.37	-5.5706	8.3552	0.32327	0.089:0.1598:0.7512:0.0	.	767	A6ND36	FA83G_HUMAN	V	767	ENSP00000373647:A767V;ENSP00000343279:A767V	ENSP00000343279:A767V	A	-	2	0	FAM83G	18815569	0.002000	0.14202	0.001000	0.08648	0.069000	0.16628	1.162000	0.31786	1.209000	0.43321	0.561000	0.74099	GCC		0.652	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			6	838	0	0	0	1	0	6	838				
AGAP10	728127	broad.mit.edu	37	10	47207828	47207828	+	Missense_Mutation	SNP	C	C	A	rs587691689	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr10:47207828C>A	ENST00000452145.2	-	4	491	c.380G>T	c.(379-381)aGc>aTc	p.S127I	RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000355232.3_Missense_Mutation_p.S152I|AGAP10_ENST00000413193.2_Missense_Mutation_p.S223I			Q5T2P9	AGA10_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 10	127					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S223I(4)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TGTACAGTTGCTTCTTCTTAT	0.264													c|||	4	0.000798722	0.0	0.0	5008	,	,		10150	0.0		0.0	False		,,,				2504	0.0041					ENST00000355232.3																			4	Substitution - Missense(4)	p.S223I(4)	lung(2)|kidney(2)	endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						c.(454-456)aGc>aTc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 10																																				SO:0001583	missense	728127							g.chr10:47207828C>A	BC075841		10q11.22	2013-01-11	2008-09-22	2008-09-22	ENSG00000204172	ENSG00000204172		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23462	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 7"""	CTGLF7			Standard	XM_006709937		Approved	bA144G6.2		Q5T2P9	OTTHUMG00000018115	ENST00000452145.2:c.380G>T	10.37:g.47207828C>A	ENSP00000392206:p.Ser127Ile					AGAP10_ENST00000413193.2_Missense_Mutation_p.S223I|AGAP10_ENST00000452145.2_Missense_Mutation_p.S127I|RP11-144G6.12_ENST00000605970.1_RNA	p.S152I							5	3467	-									Missense_Mutation	SNP	ENST00000452145.2	37	c.455G>T		.	.	.	.	.	.	.	.	.	.	c	8.454	0.853638	0.17106	.	.	ENSG00000204172	ENST00000452145;ENST00000413193;ENST00000355232	D;D;D	0.88818	-2.37;-2.43;-2.37	1.4	1.4	0.22301	.	0.201708	0.42821	D	0.000652	T	0.81009	0.4734	.	.	.	0.20873	N	0.999835	B	0.30068	0.267	B	0.22386	0.039	T	0.74725	-0.3568	9	0.87932	D	0	.	8.772	0.34737	0.0:1.0:0.0:0.0	.	127	Q5T2P9	AGA10_HUMAN	I	127;223;152	ENSP00000392206:S127I;ENSP00000407436:S223I;ENSP00000347372:S152I	ENSP00000347372:S152I	S	-	2	0	AGAP10	46627834	1.000000	0.71417	0.998000	0.56505	0.273000	0.26683	1.432000	0.34936	1.086000	0.41228	0.194000	0.17425	AGC		0.264	AGAP10-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000047845.2	XM_001714786.2		8	167	1	0	1.08611e-07	1	1.13413e-07	8	167				
LRRC28	123355	broad.mit.edu	37	15	99874263	99874263	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr15:99874263G>A	ENST00000301981.3	+	6	761	c.521G>A	c.(520-522)cGc>cAc	p.R174H	LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000559399.1_3'UTR|LRRC28_ENST00000447360.2_Missense_Mutation_p.R174H|LRRC28_ENST00000442993.2_Silent_p.A142A|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000422500.2_Intron	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	174										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			TATGTGCCGCGCCATCTCTGC	0.488																																						ENST00000301981.3																			0				endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12						c.(520-522)cGc>cAc		leucine rich repeat containing 28							146.0	124.0	131.0					15																	99874263		2197	4297	6494	SO:0001583	missense	123355							g.chr15:99874263G>A	AK091588	CCDS10380.1, CCDS66873.1	15q26.3	2004-06-29			ENSG00000168904	ENSG00000168904			28355	protein-coding gene	gene with protein product						12975309	Standard	XM_005254861		Approved	MGC24976, FLJ34269, FLJ45242	uc002bva.1	Q86X40	OTTHUMG00000149854	ENST00000301981.3:c.521G>A	15.37:g.99874263G>A	ENSP00000304923:p.Arg174His					LRRC28_ENST00000422500.2_Intron|LRRC28_ENST00000447360.2_Missense_Mutation_p.R174H|LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000442993.2_Silent_p.A142A|LRRC28_ENST00000559399.1_3'UTR|LRRC28_ENST00000331450.5_Intron	p.R174H	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00106)		6	761	+	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		174					A8KA22|Q6UY49|Q6ZSS6	Missense_Mutation	SNP	ENST00000301981.3	37	c.521G>A	CCDS10380.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.047388	0.93740	.	.	ENSG00000168904	ENST00000301981;ENST00000447360	T;T	0.29655	1.56;1.56	5.83	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.50497	0.1619	L	0.59436	1.845	0.80722	D	1	D;B	0.89917	1.0;0.027	D;B	0.79784	0.993;0.007	T	0.42172	-0.9467	10	0.48119	T	0.1	.	14.4478	0.67364	0.0716:0.0:0.9284:0.0	.	174;174	Q86X40-2;Q86X40	.;LRC28_HUMAN	H	174	ENSP00000304923:R174H;ENSP00000404520:R174H	ENSP00000304923:R174H	R	+	2	0	LRRC28	97691786	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	7.304000	0.78882	2.775000	0.95449	0.585000	0.79938	CGC		0.488	LRRC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313546.1	NM_144598		7	523	0	0	0	1	0	7	523				
C1QTNF9B	387911	broad.mit.edu	37	13	24465897	24465897	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr13:24465897C>T	ENST00000382140.2	-	5	593	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	MIPEP_ENST00000382172.3_5'Flank|MIPEP_ENST00000469167.1_5'Flank|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382137.3_Missense_Mutation_p.R178Q|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B_ENST00000382057.3_Intron			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	178	Collagen-like 3.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TCTTATTCCCCGGACTCCTGG	0.587																																						ENST00000382137.3																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						c.(532-534)cGg>cAg		C1q and tumor necrosis factor related protein 9B							32.0	41.0	38.0					13																	24465897		2201	4297	6498	SO:0001583	missense	387911					collagen		g.chr13:24465897C>T	BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863			34072	protein-coding gene	gene with protein product		614148				17544811	Standard	NM_001007537		Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.533G>A	13.37:g.24465897C>T	ENSP00000371575:p.Arg178Gln					C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.R178Q|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000556521.1_Intron	p.R178Q	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN			3	601	-			178			Collagen-like 3.		A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382140.2	37	c.533G>A	CCDS31947.1	.	.	.	.	.	.	.	.	.	.	c	13.47	2.246859	0.39697	.	.	ENSG00000205863	ENST00000382137;ENST00000382140	D;D	0.96136	-3.92;-3.92	4.26	3.24	0.37175	.	0.122397	0.64402	D	0.000018	D	0.89336	0.6686	L	0.48362	1.52	0.80722	D	1	B	0.29037	0.231	B	0.15484	0.013	T	0.83168	-0.0095	10	0.23302	T	0.38	.	2.9984	0.06005	0.0:0.5062:0.0:0.4938	.	178	B2RNN3	C1T9B_HUMAN	Q	178	ENSP00000371572:R178Q;ENSP00000371575:R178Q	ENSP00000371572:R178Q	R	-	2	0	C1QTNF9B	23363897	0.846000	0.29590	0.928000	0.36995	0.984000	0.73092	1.463000	0.35277	1.950000	0.56595	0.456000	0.33151	CGG		0.587	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	NM_001007537		6	305	0	0	0	1	0	6	305				
FN3KRP	79672	broad.mit.edu	37	17	80684911	80684911	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:80684911G>A	ENST00000269373.6	+	6	867	c.794G>A	c.(793-795)gGc>gAc	p.G265D	RP11-388C12.5_ENST00000570919.1_lincRNA|FN3KRP_ENST00000535965.1_Missense_Mutation_p.G215D	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	265				G -> C (in Ref. 4; AAH01458). {ECO:0000305}.			kinase activity (GO:0016301)			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GCCTACCACGGCAAAATCCCC	0.502																																						ENST00000269373.6																			0				breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7						c.(793-795)gGc>gAc		fructosamine 3 kinase related protein							61.0	65.0	64.0					17																	80684911		2203	4300	6503	SO:0001583	missense	79672						kinase activity	g.chr17:80684911G>A	AY360465	CCDS11817.1	17q25.3	2014-08-12			ENSG00000141560	ENSG00000141560			25700	protein-coding gene	gene with protein product		611683				14633848	Standard	NM_024619		Approved	FLJ12171, FN3KL	uc002kfu.3	Q9HA64	OTTHUMG00000177846	ENST00000269373.6:c.794G>A	17.37:g.80684911G>A	ENSP00000269373:p.Gly265Asp					FN3KRP_ENST00000535965.1_Missense_Mutation_p.G215D	p.G265D	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		6	867	+	Breast(20;0.000523)|all_neural(118;0.0952)		265	G -> C (in Ref. 4; AAH01458).				Q969F4|Q9H0U7	Missense_Mutation	SNP	ENST00000269373.6	37	c.794G>A	CCDS11817.1	.	.	.	.	.	.	.	.	.	.	G	7.125	0.578636	0.13686	.	.	ENSG00000141560	ENST00000269373;ENST00000535965	T;T	0.50277	0.75;0.75	5.82	3.82	0.43975	Protein kinase-like domain (1);	0.519883	0.25294	N	0.031701	T	0.24470	0.0593	N	0.05031	-0.125	0.24613	N	0.993718	B	0.10296	0.003	B	0.16722	0.016	T	0.12142	-1.0559	10	0.33141	T	0.24	-18.7461	8.1316	0.31031	0.1411:0.1285:0.7304:0.0	.	265	Q9HA64	KT3K_HUMAN	D	265;215	ENSP00000269373:G265D;ENSP00000444994:G215D	ENSP00000269373:G265D	G	+	2	0	FN3KRP	78278200	0.830000	0.29337	0.918000	0.36340	0.024000	0.10985	2.387000	0.44389	1.472000	0.48140	0.655000	0.94253	GGC		0.502	FN3KRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439219.1	NM_024619		6	1076	0	0	0	1	0	6	1076				
LIPC	3990	broad.mit.edu	37	15	58830668	58830668	+	Silent	SNP	C	C	T	rs146362585		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr15:58830668C>T	ENST00000356113.6	+	4	840	c.225C>T	c.(223-225)tgC>tgT	p.C75C	LIPC_ENST00000299022.5_Silent_p.C75C|LIPC_ENST00000433326.2_Silent_p.C75C|LIPC_ENST00000414170.3_Silent_p.C75C			P11150	LIPC_HUMAN	lipase, hepatic	75					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.C75C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TACAGGAGTGCGGCTTCAACT	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		18726	0.0		0.001	False		,,,				2504	0.0					ENST00000414170.3																			1	Substitution - coding silent(1)	p.C75C(1)	lung(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(223-225)tgC>tgT		lipase, hepatic							160.0	148.0	152.0					15																	58830668		2192	4292	6484	SO:0001819	synonymous_variant	3990				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	g.chr15:58830668C>T		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.225C>T	15.37:g.58830668C>T						LIPC_ENST00000433326.2_Silent_p.C75C|LIPC_ENST00000299022.5_Silent_p.C75C|LIPC_ENST00000356113.6_Silent_p.C75C	p.C75C			P11150	LIPC_HUMAN		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)	3	512	+		Colorectal(260;0.215)	75					A2RUB4|A8K9B6|O43571|P78529|Q99465	Silent	SNP	ENST00000356113.6	37	c.225C>T	CCDS10166.1																																																																																				0.473	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1			6	844	0	0	0	1	0	6	844				
TRHR	7201	broad.mit.edu	37	8	110099973	110099973	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:110099973G>A	ENST00000518632.1	+	2	583	c.232G>A	c.(232-234)Gca>Aca	p.A78T	TRHR_ENST00000311762.2_Missense_Mutation_p.A78T			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	78					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CTTGGTGGCCGCAGGCCTCCC	0.512																																						ENST00000518632.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37						c.(232-234)Gca>Aca		thyrotropin-releasing hormone receptor							138.0	127.0	131.0					8																	110099973		2203	4300	6503	SO:0001583	missense	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110099973G>A		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.232G>A	8.37:g.110099973G>A	ENSP00000430711:p.Ala78Thr					TRHR_ENST00000311762.2_Missense_Mutation_p.A78T	p.A78T			P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		2	583	+			78					Q2M339	Missense_Mutation	SNP	ENST00000518632.1	37	c.232G>A	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571768	0.86542	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	T;T	0.71698	-0.59;-0.59	5.85	5.85	0.93711	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83275	0.5219	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.78974	-0.1992	10	0.23302	T	0.38	-37.8444	19.1516	0.93491	0.0:0.0:1.0:0.0	.	78	P34981	TRFR_HUMAN	T	78	ENSP00000430711:A78T;ENSP00000309818:A78T	ENSP00000309818:A78T	A	+	1	0	TRHR	110169149	1.000000	0.71417	0.809000	0.32408	0.898000	0.52572	9.860000	0.99555	2.773000	0.95371	0.655000	0.94253	GCA		0.512	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			5	479	0	0	0	1	0	5	479				
POSTN	10631	broad.mit.edu	37	13	38145544	38145544	+	Missense_Mutation	SNP	A	A	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr13:38145544A>T	ENST00000379747.4	-	18	2258	c.2141T>A	c.(2140-2142)aTt>aAt	p.I714N	POSTN_ENST00000379749.4_Missense_Mutation_p.I714N|POSTN_ENST00000497145.1_5'UTR|POSTN_ENST00000541481.1_Intron|POSTN_ENST00000379743.4_Missense_Mutation_p.I687N|POSTN_ENST00000379742.4_Intron|POSTN_ENST00000541179.1_Missense_Mutation_p.I687N	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	714					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ACCTTCTTTAATCAGTCTGAA	0.383																																						ENST00000379747.4																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(2140-2142)aTt>aAt		periostin, osteoblast specific factor							224.0	191.0	202.0					13																	38145544		2203	4299	6502	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38145544A>T	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.2141T>A	13.37:g.38145544A>T	ENSP00000369071:p.Ile714Asn					POSTN_ENST00000379742.4_Intron|POSTN_ENST00000379743.4_Missense_Mutation_p.I687N|POSTN_ENST00000541179.1_Missense_Mutation_p.I687N|POSTN_ENST00000541481.1_Intron|POSTN_ENST00000379749.4_Missense_Mutation_p.I714N|POSTN_ENST00000497145.1_5'UTR	p.I714N	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	18	2258	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	714					B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.2141T>A	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.444763	0.63178	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743	D;D;D;D	0.93712	-3.26;-3.13;-3.16;-3.27	5.49	1.61	0.23674	.	0.628327	0.15902	N	0.239022	D	0.91533	0.7326	L	0.36672	1.1	0.38885	D	0.956994	P;P;P	0.52692	0.523;0.955;0.93	B;P;P	0.54312	0.248;0.748;0.629	D	0.88467	0.3059	10	0.72032	D	0.01	-1.7243	6.9327	0.24449	0.74:0.1263:0.1337:0.0	.	687;687;714	B1ALD8;Q15063-3;Q15063	.;.;POSTN_HUMAN	N	687;714;714;687	ENSP00000437959:I687N;ENSP00000369073:I714N;ENSP00000369071:I714N;ENSP00000369067:I687N	ENSP00000369067:I687N	I	-	2	0	POSTN	37043544	0.980000	0.34600	0.107000	0.21349	0.993000	0.82548	2.741000	0.47426	0.108000	0.17862	0.477000	0.44152	ATT		0.383	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		61	391	0	0	0	1	0	61	391				
SMG1	23049	broad.mit.edu	37	16	18841673	18841673	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:18841673G>A	ENST00000446231.2	-	52	9223	c.8811C>T	c.(8809-8811)taC>taT	p.Y2937Y	SMG1_ENST00000389467.3_Silent_p.Y2937Y			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2937					DNA repair (GO:0006281)|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)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTAATTCACCGTACTGAGCAT	0.413																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(8809-8811)taC>taT		SMG1 phosphatidylinositol 3-kinase-related kinase							75.0	70.0	72.0					16																	18841673		1871	4109	5980	SO:0001819	synonymous_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18841673G>A	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.8811C>T	16.37:g.18841673G>A						SMG1_ENST00000389467.3_Silent_p.Y2937Y	p.Y2937Y			Q96Q15	SMG1_HUMAN			52	9223	-			2937					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	c.8811C>T	CCDS45430.1																																																																																				0.413	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		4	182	0	0	0	1	0	4	182				
CACNA1D	776	broad.mit.edu	37	3	53769492	53769492	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:53769492G>A	ENST00000350061.5	+	20	3224	c.2713G>A	c.(2713-2715)Gca>Aca	p.A905T	CACNA1D_ENST00000422281.2_Missense_Mutation_p.A905T|CACNA1D_ENST00000288139.4_Missense_Mutation_p.A925T	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	905					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGCCCTGGCCGCAGAGGACCC	0.627																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(2773-2775)Gca>Aca		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						84.0	71.0	76.0					3																	53769492		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53769492G>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.2713G>A	3.37:g.53769492G>A	ENSP00000288133:p.Ala905Thr					CACNA1D_ENST00000350061.5_Missense_Mutation_p.A905T|CACNA1D_ENST00000422281.2_Missense_Mutation_p.A905T	p.A925T	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	21	2891	+			905					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.2773G>A	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595482	0.66219	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41	5.46	4.58	0.56647	.	0.066144	0.64402	N	0.000015	D	0.98601	0.9532	M	0.89414	3.03	0.80722	D	1	D;D;D;D	0.89917	1.0;0.986;1.0;0.972	D;P;D;P	0.79108	0.988;0.659;0.992;0.816	D	0.99655	1.0992	10	0.87932	D	0	.	16.7269	0.85424	0.0:0.1292:0.8708:0.0	.	905;598;905;925	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	T	905;925;905;598	ENSP00000288133:A905T;ENSP00000288139:A925T;ENSP00000409174:A905T;ENSP00000418014:A598T	ENSP00000288139:A925T	A	+	1	0	CACNA1D	53744532	1.000000	0.71417	0.106000	0.21319	0.197000	0.23852	7.906000	0.87423	1.407000	0.46875	0.555000	0.69702	GCA		0.627	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		5	456	0	0	0	1	0	5	456				
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	40								p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I40T(4)	prostate(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(118-120)aTc>aCc																																						SO:0001583	missense	0							g.chr20:29625875T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.119T>C	20.37:g.29625875T>C	ENSP00000278882:p.Ile40Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T	p.I40T							5	499	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.119T>C		.	.	.	.	.	.	.	.	.	.	t	10.51	1.369778	0.24771	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.51071	0.72	1.68	1.68	0.24146	.	0.052751	0.64402	D	0.000001	T	0.59865	0.2225	.	.	.	0.51482	D	0.999924	P	0.49862	0.929	D	0.64687	0.928	T	0.59386	-0.7464	9	0.52906	T	0.07	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	45	F5H5R5	.	T	40;45;40	ENSP00000408863:I45T	ENSP00000278882:I40T	I	+	2	0	FRG1B	28239536	1.000000	0.71417	0.982000	0.44146	0.025000	0.11179	6.565000	0.73974	1.028000	0.39785	0.155000	0.16302	ATC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		16	552	0	0	0	1	0	16	552				
KLHDC8A	55220	broad.mit.edu	37	1	205307704	205307704	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:205307704G>A	ENST00000367156.3	-	8	1594	c.778C>T	c.(778-780)Cga>Tga	p.R260*	KLHDC8A_ENST00000367155.3_Nonsense_Mutation_p.R260*|KLHDC8A_ENST00000460687.1_Nonsense_Mutation_p.R126*|KLHDC8A_ENST00000539253.1_Nonsense_Mutation_p.R260*|KLHDC8A_ENST00000537168.1_Nonsense_Mutation_p.R147*	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	260										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AAGAACGATCGTTCCATCTTC	0.517																																						ENST00000367156.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(778-780)Cga>Tga		kelch domain containing 8A							89.0	82.0	85.0					1																	205307704		2203	4300	6503	SO:0001587	stop_gained	55220							g.chr1:205307704G>A		CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873			25573	protein-coding gene	gene with protein product		614503					Standard	NM_018203		Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.778C>T	1.37:g.205307704G>A	ENSP00000356124:p.Arg260*					KLHDC8A_ENST00000460687.1_Nonsense_Mutation_p.R126*|KLHDC8A_ENST00000537168.1_Nonsense_Mutation_p.R147*|KLHDC8A_ENST00000539253.1_Nonsense_Mutation_p.R260*|KLHDC8A_ENST00000367155.3_Nonsense_Mutation_p.R260*	p.R260*	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		8	1594	-	Breast(84;0.23)		260					B3KU70|Q9NVG5	Nonsense_Mutation	SNP	ENST00000367156.3	37	c.778C>T	CCDS30985.1	.	.	.	.	.	.	.	.	.	.	G	38	6.698759	0.97772	.	.	ENSG00000162873	ENST00000367155;ENST00000367156;ENST00000539253;ENST00000537168	.	.	.	5.62	5.62	0.85841	.	0.216018	0.49305	D	0.000149	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-19.0544	19.2423	0.93888	0.0:0.0:1.0:0.0	.	.	.	.	X	260;260;260;147	.	ENSP00000356123:R260X	R	-	1	2	KLHDC8A	203574327	1.000000	0.71417	0.992000	0.48379	0.950000	0.60333	5.085000	0.64468	2.642000	0.89623	0.655000	0.94253	CGA		0.517	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1	NM_018203		70	372	0	0	0	1	0	70	372				
OPA1	4976	broad.mit.edu	37	3	193366601	193366601	+	Missense_Mutation	SNP	A	A	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:193366601A>C	ENST00000392438.3	+	19	2022	c.1788A>C	c.(1786-1788)aaA>aaC	p.K596N	OPA1_ENST00000361715.2_Missense_Mutation_p.K615N|OPA1_ENST00000361828.2_Missense_Mutation_p.K614N|OPA1_ENST00000361510.2_Missense_Mutation_p.K651N|OPA1_ENST00000361150.2_Missense_Mutation_p.K597N|OPA1_ENST00000361908.3_Missense_Mutation_p.K633N	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	596					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TATTTGAAAAAGCTAAAAATG	0.308																																						ENST00000361510.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(1951-1953)aaA>aaC		optic atrophy 1 (autosomal dominant)							81.0	92.0	88.0					3																	193366601		2202	4295	6497	SO:0001583	missense	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193366601A>C	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.1788A>C	3.37:g.193366601A>C	ENSP00000376233:p.Lys596Asn					OPA1_ENST00000361908.3_Missense_Mutation_p.K633N|OPA1_ENST00000361715.2_Missense_Mutation_p.K615N|OPA1_ENST00000392438.3_Missense_Mutation_p.K596N|OPA1_ENST00000361150.2_Missense_Mutation_p.K597N|OPA1_ENST00000361828.2_Missense_Mutation_p.K614N	p.K651N	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	21	2187	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		596					D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.1953A>C	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.985177	0.74474	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.96041	-3.48;-3.47;-3.44;-3.46;-3.49;-3.89	6.08	-4.14	0.03892	.	0.000000	0.85682	D	0.000000	D	0.96207	0.8763	M	0.71036	2.16	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.993;0.999;0.996;0.996;0.999;0.996;0.999;0.998	D;D;D;D;D;D;D;D	0.70487	0.933;0.922;0.969;0.969;0.942;0.969;0.941;0.969	D	0.94142	0.7398	10	0.56958	D	0.05	-27.0205	12.8665	0.57941	0.541:0.0:0.459:0.0	.	560;596;578;597;614;633;615;651	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	N	633;596;651;615;614;597	ENSP00000354681:K633N;ENSP00000376233:K596N;ENSP00000355324:K651N;ENSP00000355311:K615N;ENSP00000354429:K614N;ENSP00000354781:K597N	ENSP00000354781:K597N	K	+	3	2	OPA1	194849295	0.998000	0.40836	0.922000	0.36590	0.981000	0.71138	0.731000	0.26058	-1.012000	0.03387	-0.408000	0.06270	AAA		0.308	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		32	505	0	0	0	1	0	32	505				
DNAJC11	55735	broad.mit.edu	37	1	6727803	6727804	+	Frame_Shift_Del	DEL	TC	TC	-	rs374290353		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:6727803_6727804delTC	ENST00000377577.5	-	4	466_467	c.343_344delGA	c.(343-345)gaafs	p.E116fs	DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	116						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTCTCTTCTCTCTCTCTC	0.505																																						ENST00000377577.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32						c.(343-345)afs		DnaJ (Hsp40) homolog, subfamily C, member 11																																				SO:0001589	frameshift_variant	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6727803_6727804delTC	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.343_344delGA	1.37:g.6727813_6727814delTC	ENSP00000366800:p.Glu116fs					DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs	p.E116fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	4	466_467	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	116					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Frame_Shift_Del	DEL	ENST00000377577.5	37	c.343_344delGA	CCDS87.1																																																																																				0.505	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		8	263						8	263	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27106537	27106538	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:27106537_27106538insGG	ENST00000324856.7	+	20	6519_6520	c.6148_6149insGG	c.(6148-6150)tggfs	p.W2050fs	ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.W378fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.W1667fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.W1833fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2050					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGAGTGGTGGTGGGACTGCTTG	0.554			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(6148-6150)ggafs		AT rich interactive domain 1A (SWI-like)																																				SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27106537_27106538insGG	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.6149_6150dupGG	1.37:g.27106538_27106539dupGG	ENSP00000320485:p.Trp2050fs					ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.G1833fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.G1667fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.G378fs	p.G2050fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	6519_6520	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	2050					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	ENST00000324856.7	37	c.6148_6149insGG	CCDS285.1																																																																																				0.554	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		7	563						7	563	---	---	---	---
RSPO1	284654	broad.mit.edu	37	1	38078467	38078469	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:38078467_38078469delTGC	ENST00000401069.1	-	7	1462_1464	c.750_752delGCA	c.(748-753)cagcaa>caa	p.250_251QQ>Q	RSPO1_ENST00000401070.1_In_Frame_Del_p.187_188QQ>Q|RSPO1_ENST00000373059.1_In_Frame_Del_p.223_224QQ>Q|RSPO1_ENST00000401071.2_In_Frame_Del_p.187_188QQ>Q|RSPO1_ENST00000356545.2_In_Frame_Del_p.250_251QQ>Q|RSPO1_ENST00000401068.1_In_Frame_Del_p.250_251QQ>Q	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	250					canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACTGTCCCTTGCTGCTGCTGCT	0.621																																					GBM(122;680 2230 27822 42821)	ENST00000356545.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12						c.(748-753)caa>ca		R-spondin 1			,,,	31,74,4091		12,0,7,2,70,2007					,,,	2.3	1.0			96	37,0,8137		16,0,5,0,0,4066	no	codingComplex,codingComplex,codingComplex,codingComplex	RSPO1	NM_001242910.1,NM_001242909.1,NM_001242908.1,NM_001038633.3	,,,	28,0,12,2,70,6073	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4527,2.5024,1.1479	,,,	,,,		68,74,12228				SO:0001651	inframe_deletion	284654				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	g.chr1:38078467_38078469delTGC	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"""Endogenous ligands"""	21679	protein-coding gene	gene with protein product		609595	"""R-spondin homolog (Xenopus laevis)"""				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.750_752delGCA	1.37:g.38078476_38078478delTGC	ENSP00000383847:p.Gln251del					RSPO1_ENST00000401068.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401069.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401070.1_In_Frame_Del_p.QQ187del|RSPO1_ENST00000401071.2_In_Frame_Del_p.QQ187del|RSPO1_ENST00000373059.1_In_Frame_Del_p.QQ223del	p.QQ250del	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN			8	1537_1539	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	250					A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	In_Frame_Del	DEL	ENST00000401069.1	37	c.750_752delGCA	CCDS41304.1																																																																																				0.621	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640		8	888						8	888	---	---	---	---
CYP4Z2P	163720	broad.mit.edu	37	1	47325282	47325282	+	RNA	DEL	A	A	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:47325282delA	ENST00000505841.1	-	0	1204					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										ATTTCAATCCAAACATAGCTG	0.393																																						ENST00000505841.1																			0																																																			0							g.chr1:47325282delA	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47325282delA								NR_002788.2						0	1204	-								Q66ZJ5	RNA	DEL	ENST00000505841.1	37																																																																																						0.393	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		8	202						8	202	---	---	---	---
IL12RB2	3595	broad.mit.edu	37	1	67793895	67793895	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:67793895delA	ENST00000262345.1	+	5	1132	c.492delA	c.(490-492)ccafs	p.P164fs	IL12RB2_ENST00000541374.1_Frame_Shift_Del_p.P164fs|IL12RB2_ENST00000371000.1_Frame_Shift_Del_p.P164fs|IL12RB2_ENST00000544434.1_Frame_Shift_Del_p.P164fs	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	164	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TAAGTGGACCAAAAAATTTAA	0.348																																						ENST00000262345.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						c.(490-492)ccfs		interleukin 12 receptor, beta 2							138.0	137.0	138.0					1																	67793895		2203	4300	6503	SO:0001589	frameshift_variant	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67793895delA	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.492delA	1.37:g.67793895delA	ENSP00000262345:p.Pro164fs					IL12RB2_ENST00000371000.1_Frame_Shift_Del_p.P164fs|IL12RB2_ENST00000541374.1_Frame_Shift_Del_p.P164fs|IL12RB2_ENST00000544434.1_Frame_Shift_Del_p.P164fs	p.P164fs	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN			5	1132	+			164			Fibronectin type-III 1.		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Frame_Shift_Del	DEL	ENST00000262345.1	37	c.492delA	CCDS638.1																																																																																				0.348	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		7	727						7	727	---	---	---	---
ST6GALNAC5	81849	broad.mit.edu	37	1	77334277	77334279	+	In_Frame_Del	DEL	GCA	GCA	-	rs113832855|rs373434974		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:77334277_77334279delGCA	ENST00000477717.1	+	2	346_348	c.111_113delGCA	c.(109-114)ccgcag>ccg	p.Q49del	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	49	Poly-Gln.				glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGCGGCCCCCgcagcagcagcag	0.7																																						ENST00000477717.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(109-114)ccg>cc		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5				633,280,2837		87,67,392,25,163,1141						-1.1	1.0		dbSNP_132	16	606,89,6499		39,5,523,5,74,2951	no	codingComplex	ST6GALNAC5	NM_030965.1		126,72,915,30,237,4092	A1A1,A1A2,A1R,A2A2,A2R,RR		9.6608,24.3467,14.693				1239,369,9336				SO:0001651	inframe_deletion	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77334277_77334279delGCA		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.111_113delGCA	1.37:g.77334286_77334288delGCA	ENSP00000417583:p.Gln49del					ST6GALNAC5_ENST00000496845.1_3'UTR	p.PQ37del	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN			2	346_348	+			37					B1AK82	In_Frame_Del	DEL	ENST00000477717.1	37	c.111_113delGCA	CCDS673.1																																																																																				0.700	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		12	273						12	273	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116645	121116645	+	lincRNA	DEL	T	T	-	rs377003181		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:121116645delT	ENST00000437515.1	-	0	329					NR_104189.1																						CAAGCCCCCCTTTAAAAAAAA	0.393																																						ENST00000437515.1																			0																																																			0							g.chr1:121116645delT																													1.37:g.121116645delT														0	329	-									RNA	DEL	ENST00000437515.1	37																																																																																						0.393	RP11-343N15.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098477.2			13	244						13	244	---	---	---	---
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)gaadel	p.E40del	HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000457918.2_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria. {ECO:0000250}.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome																													ENST00000328703.7																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(106-108)del		HCLS1 associated protein X-1			,	145,4121		1,143,1989					,	-10.8	0.2			60	303,7951		0,303,3824	no	coding,intron	HAX1	NM_006118.3,NM_001018837.1	,	1,446,5813	A1A1,A1R,RR		3.6709,3.399,3.5783	,	,		448,12072				SO:0001651	inframe_deletion	10456	Kostmann syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154245864_154245866delGAA	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.106_108delGAA	1.37:g.154245873_154245875delGAA	ENSP00000329002:p.Glu40del					HAX1_ENST00000457918.2_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000532105.1_Intron	p.E40del	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	319_321	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		40			Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	In_Frame_Del	DEL	ENST00000328703.7	37	c.106_108delGAA	CCDS1064.1																																																																																				0.522	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		13	493						13	493	---	---	---	---
KCNN3	3782	broad.mit.edu	37	1	154680586	154680588	+	In_Frame_Del	DEL	GCT	GCT	-	rs149440400		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:154680586_154680588delGCT	ENST00000271915.4	-	8	2375_2377	c.2060_2062delAGC	c.(2059-2064)cagctc>ctc	p.Q687del	KCNN3_ENST00000515643.1_5'UTR|KCNN3_ENST00000361147.4_In_Frame_Del_p.Q382del|KCNN3_ENST00000358505.2_In_Frame_Del_p.Q374del	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	692					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GCAGACAGGAGCTGCTGCTGCTG	0.64																																						ENST00000271915.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(2059-2064)ctc>c		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3																																				SO:0001651	inframe_deletion	3782					integral to membrane	calmodulin binding	g.chr1:154680586_154680588delGCT	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.2060_2062delAGC	1.37:g.154680595_154680597delGCT	ENSP00000271915:p.Gln687del					KCNN3_ENST00000515643.1_5'UTR|KCNN3_ENST00000358505.2_In_Frame_Del_p.QL374del|KCNN3_ENST00000361147.4_In_Frame_Del_p.QL382del	p.QL687del	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		8	2375_2377	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		692					B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Del	DEL	ENST00000271915.4	37	c.2060_2062delAGC	CCDS30880.1																																																																																				0.640	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		15	814						15	814	---	---	---	---
PVRL4	81607	broad.mit.edu	37	1	161044057	161044059	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:161044057_161044059delCAC	ENST00000368012.3	-	6	1407_1409	c.1105_1107delGTG	c.(1105-1107)gtgdel	p.V369del	PVRL4_ENST00000486694.1_5'Flank|PVRL4_ENST00000453926.2_In_Frame_Del_p.V103del	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	369					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGGACATGAGCACCACCACCACC	0.571																																					NSCLC(76;1160 1387 14476 16172 29359)	ENST00000368012.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(1105-1107)del		poliovirus receptor-related 4																																				SO:0001651	inframe_deletion	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161044057_161044059delCAC	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.1105_1107delGTG	1.37:g.161044066_161044068delCAC	ENSP00000356991:p.Val369del					PVRL4_ENST00000453926.2_In_Frame_Del_p.V103del	p.V369del	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		6	1407_1409	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		369					B4DQW3|Q96K15	In_Frame_Del	DEL	ENST00000368012.3	37	c.1105_1107delGTG	CCDS1216.1																																																																																				0.571	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		8	635						8	635	---	---	---	---
PVRL4	81607	broad.mit.edu	37	1	161059028	161059030	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:161059028_161059030delAGC	ENST00000368012.3	-	1	359_361	c.57_59delGCT	c.(55-60)ctgcta>cta	p.19_20LL>L	RP11-544M22.8_ENST00000447167.1_RNA	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	19					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGCCAGCAGTAGCAGCAGCAGCA	0.567																																					NSCLC(76;1160 1387 14476 16172 29359)	ENST00000368012.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(55-60)cta>ct		poliovirus receptor-related 4																																				SO:0001651	inframe_deletion	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161059028_161059030delAGC	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.57_59delGCT	1.37:g.161059037_161059039delAGC	ENSP00000356991:p.Leu22del						p.LL21del	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		1	359_361	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		21					B4DQW3|Q96K15	In_Frame_Del	DEL	ENST00000368012.3	37	c.57_59delGCT	CCDS1216.1																																																																																				0.567	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		7	877						7	877	---	---	---	---
LMX1A	4009	broad.mit.edu	37	1	165177332	165177334	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:165177332_165177334delTGC	ENST00000342310.3	-	7	1165_1167	c.783_785delGCA	c.(781-786)cagcaa>caa	p.261_262QQ>Q	LMX1A_ENST00000367893.4_In_Frame_Del_p.261_262QQ>Q|LMX1A_ENST00000489443.2_5'UTR|RP11-38C18.2_ENST00000457106.1_RNA|LMX1A_ENST00000294816.2_In_Frame_Del_p.261_262QQ>Q	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	261	Gln-rich.|Poly-Gln.				axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CTGCTGATCTTGCTGCTGCTGCT	0.567																																						ENST00000342310.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35						c.(781-786)caa>ca		LIM homeobox transcription factor 1, alpha																																				SO:0001651	inframe_deletion	4009					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:165177332_165177334delTGC	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.783_785delGCA	1.37:g.165177341_165177343delTGC	ENSP00000340226:p.Gln262del					LMX1A_ENST00000367893.4_In_Frame_Del_p.QQ261del|LMX1A_ENST00000294816.2_In_Frame_Del_p.QQ261del|LMX1A_ENST00000489443.2_5'UTR	p.QQ261del	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN			7	1165_1167	-	all_hematologic(923;0.248)		261			Gln-rich.|Poly-Gln.		B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	In_Frame_Del	DEL	ENST00000342310.3	37	c.783_785delGCA	CCDS1247.1																																																																																				0.567	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		13	260						13	260	---	---	---	---
TMCO1	54499	broad.mit.edu	37	1	165712550	165712551	+	Splice_Site	INS	-	-	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:165712550_165712551insA	ENST00000392129.6	-	6	474		c.e6-2		TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000367881.5_Splice_Site	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1							endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CCATCAAATCTAAAAGAAAAAA	0.381																																						ENST00000367881.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						c.e6-2		transmembrane and coiled-coil domains 1																																				SO:0001630	splice_region_variant	54499					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr1:165712550_165712551insA	AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"""transmembrane and coiled-coil domains 4"""	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.324-2->T	1.37:g.165712554_165712554dupA						TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000392129.6_Splice_Site				Q9UM00	TMCO1_HUMAN			6	752	-	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)							B2REA0|O75545|Q9BZS3|Q9BZU8	Splice_Site	INS	ENST00000392129.6	37																																																																																						0.381	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1	NM_019026	Intron	14	411						14	411	---	---	---	---
SCYL3	57147	broad.mit.edu	37	1	169833511	169833511	+	Splice_Site	DEL	T	T	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:169833511delT	ENST00000367770.1	-	8	1001	c.954delA	c.(952-954)aaa>aa	p.K318fs	SCYL3_ENST00000367771.6_Splice_Site_p.K318fs|SCYL3_ENST00000367772.4_Splice_Site_p.K318fs|SCYL3_ENST00000470238.1_5'UTR			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	318					cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCATTCACCTTTTTTGGGGC	0.393																																						ENST00000367772.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.e9+1		SCY1-like 3 (S. cerevisiae)							92.0	94.0	94.0					1																	169833511		2203	4300	6503	SO:0001630	splice_region_variant	57147				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	g.chr1:169833511delT	BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.955+1A>-	1.37:g.169833511delT						SCYL3_ENST00000367770.1_Splice_Site_p.K318_splice|SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367771.5_Splice_Site_p.K318_splice	p.K318_splice	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN			9	1151	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		318					A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Splice_Site	DEL	ENST00000367770.1	37	c.955_splice	CCDS1287.1																																																																																				0.393	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093	Frame_Shift_Del	7	726						7	726	---	---	---	---
SMG7	9887	broad.mit.edu	37	1	183515266	183515267	+	Frame_Shift_Ins	INS	-	-	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:183515266_183515267insA	ENST00000347615.2	+	17	2655_2656	c.2536_2537insA	c.(2536-2538)gaafs	p.E846fs	SMG7_ENST00000456731.2_Frame_Shift_Ins_p.E758fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.E800fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.E800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.E804fs|SMG7_ENST00000367537.3_Frame_Shift_Ins_p.E829fs	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	846					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)	p.?(1)		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						GCAGCCTCTAGAAAAAAAAATG	0.45																																						ENST00000367537.3																			1	Unknown(1)	p.?(1)	skin(1)	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.(2485-2487)aaafs		SMG7 nonsense mediated mRNA decay factor																																				SO:0001589	frameshift_variant	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.chr1:183515266_183515267insA	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.2545dupA	1.37:g.183515275_183515275dupA	ENSP00000340766:p.Glu846fs					SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs|SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs	p.K829fs			Q92540	SMG7_HUMAN			18	2680_2681	+			846			Gln/Pro-rich.		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Frame_Shift_Ins	INS	ENST00000347615.2	37	c.2485_2486insA	CCDS1355.1																																																																																				0.450	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		11	599						11	599	---	---	---	---
AGT	183	broad.mit.edu	37	1	230839055	230839055	+	Frame_Shift_Del	DEL	A	A	-	rs387906578		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:230839055delA	ENST00000366667.4	-	5	1504	c.1290delT	c.(1288-1290)tttfs	p.F430fs		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	430					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CTTCAAGCTCAAAAAAAATGC	0.562																																						ENST00000366667.4																			0				endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	GRCh37	CD065661	AGT	D		c.(1288-1290)ttfs		angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)						96.0	93.0	94.0					1																	230839055		2203	4300	6503	SO:0001589	frameshift_variant	183				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding	g.chr1:230839055delA	K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.1290delT	1.37:g.230839055delA	ENSP00000355627:p.Phe430fs						p.F430fs	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	5	1504	-	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)	430					Q16358|Q16359|Q96F91	Frame_Shift_Del	DEL	ENST00000366667.4	37	c.1290delT	CCDS1585.1																																																																																				0.562	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029		8	498						8	498	---	---	---	---
CHRM3	1131	broad.mit.edu	37	1	240072443	240072444	+	Frame_Shift_Ins	INS	-	-	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:240072443_240072444insA	ENST00000255380.4	+	5	2471_2472	c.1692_1693insA	c.(1693-1695)aaafs	p.K565fs		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	565					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)	p.R568fs*>24(1)|p.K567fs*>24(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GCCAGTGTGACAAAAAAAAGAG	0.505																																						ENST00000255380.4																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.R568fs*>24(1)|p.K567fs*>24(1)	large_intestine(1)|breast(1)	breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51						c.(1690-1695)gaaaaafs		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)																																			SO:0001589	frameshift_variant	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240072443_240072444insA	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1700dupA	1.37:g.240072451_240072451dupA	ENSP00000255380:p.Lys565fs						p.EK564fs	NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	2471_2472	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	564					Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Frame_Shift_Ins	INS	ENST00000255380.4	37	c.1692_1693insA	CCDS1616.1																																																																																				0.505	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		8	464						8	464	---	---	---	---
OR2T2	401992	broad.mit.edu	37	1	248616705	248616711	+	Frame_Shift_Del	DEL	TGCTGCG	TGCTGCG	-	rs199823862|rs372931983		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:248616705_248616711delTGCTGCG	ENST00000342927.3	+	1	629_635	c.607_613delTGCTGCG	c.(607-615)tgctgcgtgfs	p.CCV203fs		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGTATGCCTGCTGCGTGCTGATGCT	0.527																																						ENST00000342927.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37						c.(607-615)tgfs		olfactory receptor, family 2, subfamily T, member 2				51,3755		2,47,1854						-2.5	0.6			76	261,7371		12,237,3567	no	frameshift	OR2T2	NM_001004136.1		14,284,5421	A1A1,A1R,RR		3.4198,1.34,2.7277				312,11126				SO:0001589	frameshift_variant	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616705_248616711delTGCTGCG	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.607_613delTGCTGCG	1.37:g.248616705_248616711delTGCTGCG	ENSP00000343062:p.Cys203fs						p.CCV203fs	NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	629_635	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		203					B2RNM1|B9EH01	Frame_Shift_Del	DEL	ENST00000342927.3	37	c.607_613delTGCTGCG	CCDS31116.1																																																																																				0.527	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		8	558						8	558	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)aagdel	p.K1310del	OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1310	Poly-Lys.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCAGTGCCcttcttcttcttc	0.576																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(3928-3930)del		otoferlin			,,,	10,9,4247		0,0,10,0,9,2114					,,,	4.9	1.0			146	5,24,8225		0,0,5,0,24,4098	no	codingComplex,codingComplex,codingComplex,codingComplex	OTOF	NM_194323.2,NM_194322.2,NM_194248.2,NM_004802.3	,,,	0,0,15,0,33,6212	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3513,0.4454,0.3834	,,,	,,,		15,33,12472				SO:0001651	inframe_deletion	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26693554_26693556delCTT	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3928_3930delAAG	2.37:g.26693563_26693565delCTT	ENSP00000272371:p.Lys1310del					OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del	p.K1310del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			32	4054_4056	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1310			Poly-Lys.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	In_Frame_Del	DEL	ENST00000272371.2	37	c.3928_3930delAAG	CCDS1725.1																																																																																				0.576	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			11	413						11	413	---	---	---	---
RTN4	57142	broad.mit.edu	37	2	55253745	55253746	+	Frame_Shift_Ins	INS	-	-	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:55253745_55253746insT	ENST00000337526.6	-	3	1732_1733	c.1489_1490insA	c.(1489-1491)atafs	p.I497fs	RTN4_ENST00000394611.2_Frame_Shift_Ins_p.I291fs|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000354474.6_Frame_Shift_Ins_p.I265fs|RTN4_ENST00000405240.1_Frame_Shift_Ins_p.I291fs|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357376.3_Frame_Shift_Ins_p.I291fs|RTN4_ENST00000404909.1_Frame_Shift_Ins_p.I291fs|RTN4_ENST00000402434.2_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	497					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CTTTTCTTCTATTTTTTTTTCA	0.381																																						ENST00000337526.6																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						c.(1489-1491)agafs		reticulon 4																																				SO:0001589	frameshift_variant	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55253745_55253746insT	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.1490dupA	2.37:g.55253754_55253754dupT	ENSP00000337838:p.Ile497fs					RTN4_ENST00000357376.3_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000394611.2_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000404909.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000354474.6_Frame_Shift_Ins_p.R265fs|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000317610.7_Intron	p.R497fs	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN			3	1732_1733	-			497					O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Frame_Shift_Ins	INS	ENST00000337526.6	37	c.1489_1490insA	CCDS42684.1																																																																																				0.381	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			11	544						11	544	---	---	---	---
LOC101927533	101927533	broad.mit.edu	37	2	65738847	65738847	+	lincRNA	DEL	T	T	-	rs201837109|rs35572946		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:65738847delT	ENST00000377977.3	+	0	862																											ttttTTGAAATTTTTTTTTTT	0.294																																						ENST00000377977.3																			0																																																			0							g.chr2:65738847delT																													2.37:g.65738847delT														0	862	+									RNA	DEL	ENST00000377977.3	37																																																																																						0.294	AC074391.1-010	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470883.1			7	21						7	21	---	---	---	---
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	GAG	-	rs368798001		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:96992793_96992795delGAG	ENST00000439118.2	+	3	675_677	c.424_426delGAG	c.(424-426)gagdel	p.E147del	ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000361124.4_In_Frame_Del_p.E155del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	147						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCAGCAGTGAGGAGGAGGAGG	0.532																																						ENST00000361124.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(448-450)del		inositol 1,4,5-trisphosphate receptor interacting protein-like 1																																				SO:0001651	inframe_deletion	150771					integral to membrane		g.chr2:96992793_96992795delGAG		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.424_426delGAG	2.37:g.96992802_96992804delGAG	ENSP00000389308:p.Glu147del					ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del	p.E155del	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN			1	859_861	+			147					F5H1L8|Q8NE61	In_Frame_Del	DEL	ENST00000439118.2	37	c.448_450delGAG	CCDS46360.1																																																																																				0.532	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		12	413						12	413	---	---	---	---
SULT1C3	442038	broad.mit.edu	37	2	108863685	108863685	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:108863685delA	ENST00000329106.2	+	1	35	c.35delA	c.(34-36)gaafs	p.E12fs	SULT1C3_ENST00000376700.1_Frame_Shift_Del_p.E12fs	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	12					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						CCCACGATGGAAAAAAAGCCA	0.353																																						ENST00000329106.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						c.(34-36)gafs		sulfotransferase family, cytosolic, 1C, member 3							90.0	96.0	94.0					2																	108863685		2203	4300	6503	SO:0001589	frameshift_variant	442038					cytoplasm	alcohol sulfotransferase activity	g.chr2:108863685delA	BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"""Sulfotransferases, cytosolic"""	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.35delA	2.37:g.108863685delA	ENSP00000333310:p.Glu12fs					SULT1C3_ENST00000376700.1_Frame_Shift_Del_p.E12fs	p.E12fs	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN			1	35	+			12					Q6IMI5	Frame_Shift_Del	DEL	ENST00000329106.2	37	c.35delA	CCDS33267.1																																																																																				0.353	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330255.1	NM_001008743		7	523						7	523	---	---	---	---
RGPD8	727851	broad.mit.edu	37	2	113147636	113147636	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:113147636delA	ENST00000302558.3	-	20	3077	c.2886delT	c.(2884-2886)tttfs	p.F962fs	RGPD8_ENST00000409750.1_Frame_Shift_Del_p.F822fs	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	962					protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						TTGTTTGGCCAAAAATCACAC	0.408																																						ENST00000302558.3																			0				endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(2884-2886)ttfs		RANBP2-like and GRIP domain containing 8							80.0	72.0	74.0					2																	113147636		686	1568	2254	SO:0001589	frameshift_variant	727851							g.chr2:113147636delA	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.2886delT	2.37:g.113147636delA	ENSP00000306637:p.Phe962fs					RGPD8_ENST00000409750.1_Frame_Shift_Del_p.F822fs	p.F962fs	NM_001164463.1	NP_001157935.1					20	3077	-								Q5CZA8	Frame_Shift_Del	DEL	ENST00000302558.3	37	c.2886delT	CCDS46394.1																																																																																				0.408	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		8	1235						8	1235	---	---	---	---
R3HDM1	23518	broad.mit.edu	37	2	136409468	136409470	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:136409468_136409470delCCA	ENST00000264160.4	+	17	2159_2161	c.1789_1791delCCA	c.(1789-1791)ccadel	p.P605del	R3HDM1_ENST00000409478.1_In_Frame_Del_p.P477del|R3HDM1_ENST00000409606.1_In_Frame_Del_p.P606del|R3HDM1_ENST00000329971.3_In_Frame_Del_p.P476del|R3HDM1_ENST00000410054.1_In_Frame_Del_p.P550del	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	605	Poly-Pro.						poly(A) RNA binding (GO:0044822)	p.P597P(1)		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)		tcctccaccgccaccaccaccac	0.606																																						ENST00000264160.4																			1	Substitution - coding silent(1)	p.P597P(1)	endometrium(1)	breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38						c.(1789-1791)del		R3H domain containing 1																																				SO:0001651	inframe_deletion	23518						nucleic acid binding	g.chr2:136409468_136409470delCCA	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.1789_1791delCCA	2.37:g.136409477_136409479delCCA	ENSP00000264160:p.Pro605del					R3HDM1_ENST00000410054.1_In_Frame_Del_p.P550del|R3HDM1_ENST00000329971.3_In_Frame_Del_p.P476del|R3HDM1_ENST00000409606.1_In_Frame_Del_p.P606del|R3HDM1_ENST00000409478.1_In_Frame_Del_p.P477del	p.P605del	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	17	2159_2161	+			605			Poly-Pro.		A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	In_Frame_Del	DEL	ENST00000264160.4	37	c.1789_1791delCCA	CCDS2177.1																																																																																				0.606	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		7	463						7	463	---	---	---	---
COL4A4	1286	broad.mit.edu	37	2	227896886	227896886	+	Frame_Shift_Del	DEL	C	C	-	rs2229812	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:227896886delC	ENST00000396625.3	-	39	3891	c.3684delG	c.(3682-3684)aagfs	p.K1229fs	COL4A4_ENST00000329662.7_Frame_Shift_Del_p.K1229fs	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1229	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGGGACCTTTCTTTCCACGAG	0.522																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(3682-3684)aafs		collagen, type IV, alpha 4							75.0	77.0	76.0					2																	227896886		1844	4079	5923	SO:0001589	frameshift_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227896886delC		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.3684delG	2.37:g.227896886delC	ENSP00000379866:p.Lys1229fs					COL4A4_ENST00000329662.7_Frame_Shift_Del_p.K1229fs	p.K1229fs	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	39	3891	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1229			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Frame_Shift_Del	DEL	ENST00000396625.3	37	c.3684delG	CCDS42828.1																																																																																				0.522	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		8	607						8	607	---	---	---	---
APEH	327	broad.mit.edu	37	3	49723322	49723327	+	IGR	DEL	GCGCTG	GCGCTG	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:49723322_49723327delGCGCTG	ENST00000296456.5	+	0	3220				AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000383728.3_3'UTR|MST1_ENST00000494828.2_5'Flank|MST1_ENST00000449682.2_In_Frame_Del_p.QR406del	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGCGGACCAGCGCTGGCACTGGACA	0.704																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1216-1221)del		macrophage stimulating 1 (hepatocyte growth factor-like)																																				SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723322_49723327delGCGCTG	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723322_49723327delGCGCTG						MST1_ENST00000383728.3_3'UTR	p.QR406del	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	10	1577_1582	-			392			Kringle 4.		Q9BQ33|Q9P0Y2	In_Frame_Del	DEL	ENST00000296456.5	37	c.1216_1221delCAGCGC	CCDS2801.1																																																																																				0.704	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			7	845						7	845	---	---	---	---
RBM15B	29890	broad.mit.edu	37	3	51430822	51430824	+	In_Frame_Del	DEL	CCA	CCA	-	rs147738916	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:51430822_51430824delCCA	ENST00000323686.4	+	1	2092_2094	c.1992_1994delCCA	c.(1990-1995)ggccac>ggc	p.H670del		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	670	His-rich.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGGAACGGGGCCACCACCACCAC	0.635																																						ENST00000323686.4																			0				endometrium(4)|large_intestine(5)|lung(3)	12						c.(1990-1995)ggc>gg		RNA binding motif protein 15B																																				SO:0001651	inframe_deletion	29890				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr3:51430822_51430824delCCA	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"""RNA binding motif (RRM) containing"""	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.1992_1994delCCA	3.37:g.51430831_51430833delCCA	ENSP00000313890:p.His670del						p.GH664del	NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	2092_2094	+			664			His-rich.		A4QPG7|Q6QE19|Q9BV96	In_Frame_Del	DEL	ENST00000323686.4	37	c.1992_1994delCCA	CCDS33764.1																																																																																				0.635	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		8	207						8	207	---	---	---	---
CACNA1D	776	broad.mit.edu	37	3	53529193	53529195	+	Start_Codon_Del	DEL	GAT	GAT	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:53529193_53529195delGAT	ENST00000350061.5	+	0	511_513				CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000288139.4_Start_Codon_Del	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	aatgttcgtGgatgatgatgatg	0.581																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90								calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)																																			SO:0001582	initiator_codon_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53529193_53529195delGAT	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278		3.37:g.53529202_53529204delGAT						CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000350061.5_Start_Codon_Del		NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	0	118_120	+								B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Translation_Start_Site	DEL	ENST00000350061.5	37		CCDS46848.1																																																																																				0.581	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		8	525						8	525	---	---	---	---
CFAP44	55779	broad.mit.edu	37	3	113098247	113098249	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:113098247_113098249delTCC	ENST00000295868.2	-	17	2364_2366	c.2202_2204delGGA	c.(2200-2205)gaggaa>gaa	p.734_735EE>E	WDR52_ENST00000393845.2_In_Frame_Del_p.734_735EE>E|WDR52_ENST00000475568.1_5'Flank	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TGGctcttcttcctcctcctcct	0.458																																						ENST00000393845.2																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						c.(2200-2205)gaa>ga		WD repeat domain 52																																				SO:0001651	inframe_deletion	55779							g.chr3:113098247_113098249delTCC																												ENST00000295868.2:c.2202_2204delGGA	3.37:g.113098256_113098258delTCC	ENSP00000295868:p.Glu737del					WDR52_ENST00000295868.2_In_Frame_Del_p.EE736del	p.EE736del	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN			17	2268_2270	-			736			Glu-rich.			In_Frame_Del	DEL	ENST00000295868.2	37	c.2202_2204delGGA	CCDS2972.1																																																																																				0.458	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			7	488						7	488	---	---	---	---
CFAP44	55779	broad.mit.edu	37	3	113145015	113145015	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:113145015delA	ENST00000295868.2	-	4	525	c.363delT	c.(361-363)tttfs	p.F121fs	WDR52_ENST00000393845.2_Frame_Shift_Del_p.F121fs|WDR52-AS1_ENST00000498480.1_RNA|WDR52-AS1_ENST00000473329.1_RNA	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CCAGAGTCACAAAAGGCATCG	0.408																																						ENST00000393845.2																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						c.(361-363)ttfs		WD repeat domain 52							235.0	239.0	238.0					3																	113145015		2203	4300	6503	SO:0001589	frameshift_variant	55779							g.chr3:113145015delA																												ENST00000295868.2:c.363delT	3.37:g.113145015delA	ENSP00000295868:p.Phe121fs					WDR52-AS1_ENST00000498480.1_RNA|WDR52-AS1_ENST00000473329.1_RNA|WDR52_ENST00000295868.2_Frame_Shift_Del_p.F121fs	p.F121fs	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN			4	429	-			121						Frame_Shift_Del	DEL	ENST00000295868.2	37	c.363delT	CCDS2972.1																																																																																				0.408	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			7	1659						7	1659	---	---	---	---
ALG1L2	644974	broad.mit.edu	37	3	129816899	129816900	+	RNA	INS	-	-	ATG	rs200183235|rs377006553	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:129816899_129816900insATG	ENST00000507643.1	+	0	647				AC083906.2_ENST00000578837.1_RNA			C9J202	AG1L2_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2								transferase activity, transferring glycosyl groups (GO:0016757)										TTCCAGAAAGCATGTCAAGATG	0.589														506	0.101038	0.1195	0.0432	5008	,	,		16512	0.1508		0.0537	False		,,,				2504	0.1145					ENST00000507643.1																			0																																																			0				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr3:129816899_129816900insATG	BC127756		3q22.1	2013-02-22	2013-02-22		ENSG00000251287	ENSG00000251287		"""Glycosyltransferase group 1 domain containing"""	37258	other	unknown			"""asparagine-linked glycosylation 1-like 2"""				Standard	NM_001136152		Approved		uc011bld.2	C9J202	OTTHUMG00000159782		3.37:g.129816900_129816902dupATG										C9J202	AG1L2_HUMAN			0	647	+									RNA	INS	ENST00000507643.1	37																																																																																						0.589	ALG1L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357289.1	NM_001136152		11	17						11	17	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151148114	151148116	+	In_Frame_Del	DEL	CAG	CAG	-	rs147600909		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:151148114_151148116delCAG	ENST00000474524.1	+	42	6369_6371	c.6331_6333delCAG	c.(6331-6333)cagdel	p.Q2115del	MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2115	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q2111E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAGACCCAGCAGCAGCAGC	0.527																																						ENST00000474524.1																			1	Substitution - Missense(1)	p.Q2111E(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(6331-6333)del		mediator complex subunit 12-like																																				SO:0001651	inframe_deletion	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151148114_151148116delCAG	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6331_6333delCAG	3.37:g.151148123_151148125delCAG	ENSP00000417235:p.Gln2115del					MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	p.Q2115del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		42	6369_6371	+			2115			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	In_Frame_Del	DEL	ENST00000474524.1	37	c.6331_6333delCAG	CCDS33876.1																																																																																				0.527	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		13	658						13	658	---	---	---	---
DHX36	170506	broad.mit.edu	37	3	154032977	154032978	+	Frame_Shift_Ins	INS	-	-	T	rs373108427		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:154032977_154032978insT	ENST00000496811.1	-	3	540_541	c.460_461insA	c.(460-462)atgfs	p.M154fs	DHX36_ENST00000308361.6_Frame_Shift_Ins_p.M154fs|DHX36_ENST00000544526.1_Frame_Shift_Ins_p.M154fs|DHX36_ENST00000329463.5_Frame_Shift_Ins_p.M154fs	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	154					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GATTCTAAACATTTTTTTTTCT	0.337																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(460-462)gttfs		DEAH (Asp-Glu-Ala-His) box polypeptide 36																																				SO:0001589	frameshift_variant	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154032977_154032978insT	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.461dupA	3.37:g.154032986_154032986dupT	ENSP00000417078:p.Met154fs					DHX36_ENST00000544526.1_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000308361.6_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000329463.5_Frame_Shift_Ins_p.V154fs	p.V154fs	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		3	540_541	-			154					B2RB00|Q70JU3|Q8IYE5|Q9P240	Frame_Shift_Ins	INS	ENST00000496811.1	37	c.460_461insA	CCDS3171.1																																																																																				0.337	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		8	309						8	309	---	---	---	---
ATP11B	23200	broad.mit.edu	37	3	182577061	182577085	+	Frame_Shift_Del	DEL	ATTGGCTGGGATCTTGATCTGTATC	ATTGGCTGGGATCTTGATCTGTATC	-	rs567276883|rs148742494		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:182577061_182577085delATTGGCTGGGATCTTGATCTGTATC	ENST00000323116.5	+	12	1374_1398	c.1114_1138delATTGGCTGGGATCTTGATCTGTATC	c.(1114-1140)attggctgggatcttgatctgtatcatfs	p.IGWDLDLYH372fs		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	372					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ATCATTTTTTATTGGCTGGGATCTTGATCTGTATCATGAAGAATC	0.333																																						ENST00000323116.5																			0				breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41						c.(1114-1140)atfs		ATPase, class VI, type 11B																																				SO:0001589	frameshift_variant	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182577061_182577085delATTGGCTGGGATCTTGATCTGTATC	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.1114_1138delATTGGCTGGGATCTTGATCTGTATC	3.37:g.182577061_182577085delATTGGCTGGGATCTTGATCTGTATC	ENSP00000321195:p.Ile372fs						p.IGWDLDLYH372fs	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		12	1374_1398	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		372					Q96FN1|Q9UKK7	Frame_Shift_Del	DEL	ENST00000323116.5	37	c.1114_1138delATTGGCTGGGATCTTGATCTGTATC	CCDS33896.1																																																																																				0.333	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		7	158						7	158	---	---	---	---
HGFAC	3083	broad.mit.edu	37	4	3443798	3443800	+	In_Frame_Del	DEL	CTG	CTG	-	rs372137428		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:3443798_3443800delCTG	ENST00000382774.3	+	1	185_187	c.70_72delCTG	c.(70-72)ctgdel	p.L29del	HGFAC_ENST00000511533.1_In_Frame_Del_p.L29del	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	29					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCTCCTCCTCCTGCTGCTGCTGC	0.714																																						ENST00000382774.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(70-72)del		HGF activator				1,155,2800		0,0,1,8,139,1330						2.2	1.0			15	2,247,5979		0,0,2,8,231,2873	no	codingComplex	HGFAC	NM_001528.2		0,0,3,16,370,4203	A1A1,A1A2,A1R,A2A2,A2R,RR		3.9981,5.2774,4.4098				3,402,8779				SO:0001651	inframe_deletion	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3443798_3443800delCTG	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.70_72delCTG	4.37:g.3443807_3443809delCTG	ENSP00000372224:p.Leu29del					HGFAC_ENST00000511533.1_In_Frame_Del_p.L29del	p.L29del	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	185_187	+			29					Q14726|Q2M1W7|Q53X47	In_Frame_Del	DEL	ENST00000382774.3	37	c.70_72delCTG	CCDS3369.1																																																																																				0.714	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			10	232						10	232	---	---	---	---
SLC34A2	10568	broad.mit.edu	37	4	25678148	25678150	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:25678148_25678150delGCT	ENST00000382051.3	+	13	1900_1902	c.1850_1852delGCT	c.(1849-1854)cgctgc>cgc	p.C622del	SLC34A2_ENST00000504570.1_In_Frame_Del_p.C621del|SLC34A2_ENST00000503434.1_In_Frame_Del_p.C621del	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	622	Cys-rich.				aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TTCCAGATGCgctgctgctgctg	0.64			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(1849-1854)cgc>c		solute carrier family 34 (type II sodium/phosphate contransporter), member 2																																				SO:0001651	inframe_deletion	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25678148_25678150delGCT	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1850_1852delGCT	4.37:g.25678157_25678159delGCT	ENSP00000371483:p.Cys622del					SLC34A2_ENST00000504570.1_In_Frame_Del_p.RC616del|SLC34A2_ENST00000503434.1_In_Frame_Del_p.RC616del	p.RC617del	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			13	1900_1902	+		Breast(46;0.0503)	617			Cys-rich.		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	In_Frame_Del	DEL	ENST00000382051.3	37	c.1850_1852delGCT	CCDS3435.1																																																																																				0.640	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		8	329						8	329	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-	rs150581210		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:146077123_146077125delCAG	ENST00000447906.2	-	8	840_842	c.653_655delCTG	c.(652-657)gctgat>gat	p.A218del	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_In_Frame_Del_p.A153del			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(457-462)gat>g		OTU domain containing 4																																				SO:0001651	inframe_deletion	54726						protein binding	g.chr4:146077123_146077125delCAG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653_655delCTG	4.37:g.146077132_146077134delCAG	ENSP00000395487:p.Ala218del					OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	p.AD153del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			8	595_597	-	all_hematologic(180;0.151)		218			OTU.		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	In_Frame_Del	DEL	ENST00000447906.2	37	c.458_460delCTG																																																																																					0.340	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		7	414						7	414	---	---	---	---
FRG1	2483	broad.mit.edu	37	4	190881950	190881952	+	In_Frame_Del	DEL	AGA	AGA	-	rs56257823		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:190881950_190881952delAGA	ENST00000226798.4	+	7	807_809	c.585_587delAGA	c.(583-588)ccagaa>cca	p.E197del	FRG1_ENST00000514482.1_Intron	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	197					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		ATGACATTCCAGAAGAAGACAAA	0.34																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(583-588)cca>cc		FSHD region gene 1																																				SO:0001651	inframe_deletion	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190881950_190881952delAGA	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.585_587delAGA	4.37:g.190881956_190881958delAGA	ENSP00000226798:p.Glu197del					FRG1_ENST00000514482.1_Intron	p.PE195del	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	7	807_809	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	195					A8K775	In_Frame_Del	DEL	ENST00000226798.4	37	c.585_587delAGA	CCDS34121.1																																																																																				0.340	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		7	263						7	263	---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	11110989	11110991	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:11110989_11110991delTTC	ENST00000304623.8	-	14	2631_2633	c.2442_2444delGAA	c.(2440-2445)aagaaa>aaa	p.814_815KK>K	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_In_Frame_Del_p.381_382KK>K|CTNND2_ENST00000503622.1_In_Frame_Del_p.477_478KK>K|CTNND2_ENST00000359640.2_In_Frame_Del_p.814_815KK>K|CTNND2_ENST00000511377.1_In_Frame_Del_p.723_724KK>K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	814	Poly-Lys.				cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGATTTCTTTTTCTTCTTCTTCT	0.502																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(2440-2445)aaa>aa		catenin (cadherin-associated protein), delta 2																																				SO:0001651	inframe_deletion	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11110989_11110991delTTC	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2442_2444delGAA	5.37:g.11110998_11111000delTTC	ENSP00000307134:p.Lys817del					CTNND2_ENST00000503622.1_In_Frame_Del_p.KK479del|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_In_Frame_Del_p.KK383del|CTNND2_ENST00000359640.2_In_Frame_Del_p.KK816del|CTNND2_ENST00000511377.1_In_Frame_Del_p.KK725del	p.KK816del	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			14	2631_2633	-			816			Poly-Lys.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	In_Frame_Del	DEL	ENST00000304623.8	37	c.2442_2444delGAA	CCDS3881.1																																																																																				0.502	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		44	1810						44	1810	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24492973	24492973	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:24492973delA	ENST00000264463.4	-	10	2084	c.1577delT	c.(1576-1578)ttcfs	p.F526fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTAAACTGAAAAAAAATTT	0.313										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(1576-1578)tcfs		cadherin 10, type 2 (T2-cadherin)							170.0	183.0	179.0					5																	24492973		2203	4298	6501	SO:0001589	frameshift_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24492973delA	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1577delT	5.37:g.24492973delA	ENSP00000264463:p.Phe526fs	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.F526fs	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	10	2084	-			526			Cadherin 5.		Q9ULB3	Frame_Shift_Del	DEL	ENST00000264463.4	37	c.1577delT	CCDS3892.1																																																																																				0.313	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		7	1006						7	1006	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32090059	32090061	+	In_Frame_Del	DEL	TCC	TCC	-	rs61744453|rs75551718	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:32090059_32090061delTCC	ENST00000438447.1	+	20	6893_6895	c.6505_6507delTCC	c.(6505-6507)tccdel	p.S2173del	PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del			O15018	PDZD2_HUMAN	PDZ domain containing 2	2173	Ser-rich.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAAACTGGCGTCCTCCTCCTCCT	0.527																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(6505-6507)del		PDZ domain containing 2																																				SO:0001651	inframe_deletion	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32090059_32090061delTCC	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.6505_6507delTCC	5.37:g.32090068_32090070delTCC	ENSP00000402033:p.Ser2173del					PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del	p.S2173del			O15018	PDZD2_HUMAN			20	6893_6895	+			2173			Ser-rich.		Q9BXD4	In_Frame_Del	DEL	ENST00000438447.1	37	c.6505_6507delTCC	CCDS34137.1																																																																																				0.527	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			8	791						8	791	---	---	---	---
MSH3	4437	broad.mit.edu	37	5	79970915	79970915	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:79970915delA	ENST00000265081.6	+	7	1221	c.1141delA	c.(1141-1143)aaafs	p.K383fs		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	383					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TGTTAGGGACAAAAAAAAGGG	0.348								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1141-1143)aafs	Mismatch excision repair (MMR)	mutS homolog 3							142.0	146.0	144.0					5																	79970915		2203	4300	6503	SO:0001589	frameshift_variant	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:79970915delA	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.1141delA	5.37:g.79970915delA	ENSP00000265081:p.Lys383fs						p.K383fs	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	7	1221	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	383					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Frame_Shift_Del	DEL	ENST00000265081.6	37	c.1141delA	CCDS34195.1																																																																																				0.348	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		8	801						8	801	---	---	---	---
RASGRF2	5924	broad.mit.edu	37	5	80409566	80409568	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:80409566_80409568delCCA	ENST00000265080.4	+	15	2364_2366	c.2297_2299delCCA	c.(2296-2301)cccacc>ccc	p.T770del	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	770					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TCCAGCAGTCCCACCACCACCAC	0.562																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2296-2301)ccc>c		Ras protein-specific guanine nucleotide-releasing factor 2																																				SO:0001651	inframe_deletion	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80409566_80409568delCCA	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.2297_2299delCCA	5.37:g.80409575_80409577delCCA	ENSP00000265080:p.Thr770del					CTD-2193P3.2_ENST00000508993.1_RNA	p.PT766del	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	15	2364_2366	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	766					B9EG89|Q9UK56	In_Frame_Del	DEL	ENST00000265080.4	37	c.2297_2299delCCA	CCDS4052.1																																																																																				0.562	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		8	465						8	465	---	---	---	---
RAPGEF6	51735	broad.mit.edu	37	5	130782332	130782332	+	Frame_Shift_Del	DEL	T	T	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:130782332delT	ENST00000509018.1	-	22	3470	c.3265delA	c.(3265-3267)aggfs	p.R1089fs	CTC-432M15.3_ENST00000514667.1_Frame_Shift_Del_p.R1139fs|RAPGEF6_ENST00000296859.6_Frame_Shift_Del_p.R1097fs|RAPGEF6_ENST00000507093.1_Frame_Shift_Del_p.R1097fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Del_p.R1102fs|RAPGEF6_ENST00000512052.1_Frame_Shift_Del_p.R812fs|RAPGEF6_ENST00000308008.6_Frame_Shift_Del_p.R1089fs	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1089					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CGGCGTGCCCTTTTTTTGTGA	0.453																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(3265-3267)ggfs		Rap guanine nucleotide exchange factor (GEF) 6							153.0	147.0	149.0					5																	130782332		2203	4300	6503	SO:0001589	frameshift_variant	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130782332delT	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.3265delA	5.37:g.130782332delT	ENSP00000421684:p.Arg1089fs					RAPGEF6_ENST00000512052.1_Frame_Shift_Del_p.R812fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Del_p.R1102fs|RAPGEF6_ENST00000507093.1_Frame_Shift_Del_p.R1097fs|RAPGEF6_ENST00000308008.6_Frame_Shift_Del_p.R1089fs|RAPGEF6_ENST00000296859.6_Frame_Shift_Del_p.R1097fs|FNIP1_ENST00000514667.1_Frame_Shift_Del_p.R1139fs	p.R1089fs	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	22	3470	-			1089					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Frame_Shift_Del	DEL	ENST00000509018.1	37	c.3265delA	CCDS34225.1																																																																																				0.453	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		7	815						7	815	---	---	---	---
SLC22A4	6583	broad.mit.edu	37	5	131676327	131676327	+	Frame_Shift_Del	DEL	T	T	-	rs72552721		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:131676327delT	ENST00000200652.3	+	9	1688	c.1514delT	c.(1513-1515)cttfs	p.L505fs	AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	505					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)	p.E509fs*1(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	ATCCTCACCCTTTTTTTCCCT	0.418																																						ENST00000200652.3																			1	Insertion - Frameshift(1)	p.E509fs*1(1)	ovary(1)	endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(1513-1515)ctfs		solute carrier family 22 (organic cation/zwitterion transporter), member 4	L-Carnitine(DB00583)						222.0	206.0	211.0					5																	131676327		2203	4300	6503	SO:0001589	frameshift_variant	6583				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	g.chr5:131676327delT	AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"""Solute carriers"""	10968	protein-coding gene	gene with protein product		604190	"""solute carrier family 22 (organic cation/ergothioneine transporter), member 4"""			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.1514delT	5.37:g.131676327delT	ENSP00000200652:p.Leu505fs					AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	p.L505fs	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1688	+		all_cancers(142;0.0752)|Breast(839;0.198)	505					O14546	Frame_Shift_Del	DEL	ENST00000200652.3	37	c.1514delT	CCDS4153.1																																																																																				0.418	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	NM_003059		8	995						8	995	---	---	---	---
AFF4	27125	broad.mit.edu	37	5	132270259	132270259	+	Frame_Shift_Del	DEL	T	T	-	rs35626495		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:132270259delT	ENST00000265343.5	-	3	877	c.498delA	c.(496-498)aaafs	p.K166fs	AFF4_ENST00000378595.3_Frame_Shift_Del_p.K166fs|AFF4_ENST00000491831.1_5'UTR	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	166	Ser-rich.				spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CATGCTGGCCTTTTTTCCGGC	0.512																																					Ovarian(126;889 1733 2942 10745 11605)	ENST00000265343.5																		SEPT8/AFF4(2)	0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43						c.(496-498)aafs		AF4/FMR2 family, member 4							164.0	160.0	161.0					5																	132270259		2203	4300	6503	SO:0001589	frameshift_variant	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132270259delT	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.498delA	5.37:g.132270259delT	ENSP00000265343:p.Lys166fs					AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Frame_Shift_Del_p.K166fs	p.K166fs	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	877	-		all_cancers(142;0.145)|Breast(839;0.198)	166			Ser-rich.		B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Frame_Shift_Del	DEL	ENST00000265343.5	37	c.498delA	CCDS4164.1																																																																																				0.512	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		8	797						8	797	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32523273	32523274	+	RNA	DEL	GA	GA	-	rs142054686		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:32523273_32523274delGA	ENST00000411500.1	-	0	458					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		ATTCCACTGTGAGAGGGCTCAT	0.396																																						ENST00000411500.1																			0																																																			0							g.chr6:32523273_32523274delGA	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.32523275_32523276delGA								NR_001298.1						0	458	-									RNA	DEL	ENST00000411500.1	37																																																																																						0.396	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		12	78						12	78	---	---	---	---
SYNGAP1	8831	broad.mit.edu	37	6	33411201	33411203	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:33411201_33411203delCAC	ENST00000418600.2	+	15	2973_2975	c.2872_2874delCAC	c.(2872-2874)cacdel	p.H966del	SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	966					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TTCCTCccatcaccaccaccacc	0.645																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(2872-2874)del		synaptic Ras GTPase activating protein 1																																				SO:0001651	inframe_deletion	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33411201_33411203delCAC	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2872_2874delCAC	6.37:g.33411210_33411212delCAC	ENSP00000403636:p.His966del					SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del	p.H966del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			15	2973_2975	+			966					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	In_Frame_Del	DEL	ENST00000418600.2	37	c.2872_2874delCAC	CCDS34434.2																																																																																				0.645	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		13	1043						13	1043	---	---	---	---
MDFI	4188	broad.mit.edu	37	6	41621169	41621171	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:41621169_41621171delCTG	ENST00000373050.4	+	4	601_603	c.414_416delCTG	c.(412-417)ctctgc>ctc	p.C143del				Q99750	MDFI_HUMAN	MyoD family inhibitor	204					activation of JUN kinase activity (GO:0007257)|cytoplasmic sequestering of transcription factor (GO:0042994)|dorsal/ventral axis specification (GO:0009950)|embryo development (GO:0009790)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			ACTCGTGCCTCTGCTGCTGCTGC	0.655																																						ENST00000373050.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8						c.(412-417)ctc>ct		MyoD family inhibitor																																				SO:0001651	inframe_deletion	4188				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr6:41621169_41621171delCTG	U78313	CCDS4857.1, CCDS75451.1	6p21	2008-08-29			ENSG00000112559	ENSG00000112559			6967	protein-coding gene	gene with protein product	"""inhibitor of MyoD family a"""	604971				9250874, 17289077	Standard	NM_005586		Approved	I-mfa	uc003oqq.4	Q99750	OTTHUMG00000014681	ENST00000373050.4:c.414_416delCTG	6.37:g.41621178_41621180delCTG	ENSP00000362141:p.Cys143del						p.LC138del			Q99750	MDFI_HUMAN	Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)		4	601_603	+	Ovarian(28;0.0327)|Colorectal(47;0.121)		199						In_Frame_Del	DEL	ENST00000373050.4	37	c.414_416delCTG																																																																																					0.655	MDFI-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000040519.2	NM_005586		13	643						13	643	---	---	---	---
CEP162	22832	broad.mit.edu	37	6	84896233	84896233	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:84896233delA	ENST00000403245.3	-	12	1332	c.1218delT	c.(1216-1218)tttfs	p.F406fs	KIAA1009_ENST00000257766.4_Frame_Shift_Del_p.F330fs|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CATTTTTGTCAAAAAAAAGGT	0.358																																						ENST00000403245.3																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1216-1218)ttfs		KIAA1009							141.0	150.0	147.0					6																	84896233		2202	4300	6502	SO:0001589	frameshift_variant	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84896233delA																												ENST00000403245.3:c.1218delT	6.37:g.84896233delA	ENSP00000385215:p.Phe406fs					KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Frame_Shift_Del_p.F330fs	p.F406fs	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	12	1332	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	406						Frame_Shift_Del	DEL	ENST00000403245.3	37	c.1218delT	CCDS34494.2																																																																																				0.358	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			15	606						15	606	---	---	---	---
GABRR1	2569	broad.mit.edu	37	6	89891719	89891721	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:89891719_89891721delAAG	ENST00000454853.2	-	8	962_964	c.852_854delCTT	c.(850-855)ttcttg>ttg	p.F284del	GABRR1_ENST00000369451.3_In_Frame_Del_p.F197del|GABRR1_ENST00000435811.1_In_Frame_Del_p.F267del	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	284					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	AGTTTGGAGCAAGAAGAAGAAGA	0.522																																						ENST00000435811.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35						c.(799-804)ttg>tt		gamma-aminobutyric acid (GABA) A receptor, rho 1	Picrotoxin(DB00466)																																			SO:0001651	inframe_deletion	2569				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89891719_89891721delAAG		CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.852_854delCTT	6.37:g.89891728_89891730delAAG	ENSP00000412673:p.Phe284del					GABRR1_ENST00000454853.2_In_Frame_Del_p.FL284del|GABRR1_ENST00000369451.3_In_Frame_Del_p.FL197del	p.FL267del	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00917)	7	1255_1257	-		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	284					A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	In_Frame_Del	DEL	ENST00000454853.2	37	c.801_803delCTT	CCDS5019.2																																																																																				0.522	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2			10	533						10	533	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90432786	90432786	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:90432786delA	ENST00000369393.3	-	40	5970	c.5855delT	c.(5854-5856)ttcfs	p.F1952fs	MDN1_ENST00000428876.1_Frame_Shift_Del_p.F1952fs			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1952					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACACCAGCGGAAAAGGTCCCG	0.473																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(5854-5856)tcfs		MDN1, midasin homolog (yeast)							137.0	151.0	146.0					6																	90432786		2203	4300	6503	SO:0001589	frameshift_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90432786delA	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.5855delT	6.37:g.90432786delA	ENSP00000358400:p.Phe1952fs					MDN1_ENST00000428876.1_Frame_Shift_Del_p.F1952fs	p.F1952fs			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	40	5970	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1952					O15019|Q5T794	Frame_Shift_Del	DEL	ENST00000369393.3	37	c.5855delT	CCDS5024.1																																																																																				0.473	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			9	1189						9	1189	---	---	---	---
HOXA11	3207	broad.mit.edu	37	7	27222462	27222462	+	Frame_Shift_Del	DEL	T	T	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:27222462delT	ENST00000006015.3	-	2	966	c.895delA	c.(895-897)attfs	p.I299fs	HOXA11-AS_ENST00000522674.1_RNA|HOXA11-AS_ENST00000520395.1_RNA|RP1-170O19.20_ENST00000470747.4_5'Flank|HOXA11-AS_ENST00000522863.1_RNA|HOXA11-AS_ENST00000520360.1_RNA|HOXA10_ENST00000396344.4_5'Flank	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	299					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal joint morphogenesis (GO:0060272)|male gonad development (GO:0008584)|mesodermal cell fate specification (GO:0007501)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)	nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						TCTCTGTTAATTTTTTTTTCC	0.448			T	NUP98	CML																																	ENST00000006015.3				Dom	yes		7	7p15-p14.2	3207	T	homeo box A11			L	NUP98		CML		0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						c.(895-897)ttfs		homeobox A11							78.0	79.0	79.0					7																	27222462		2203	4300	6503	SO:0001589	frameshift_variant	3207				branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27222462delT		CCDS5411.1	7p15.2	2014-09-17	2005-12-22		ENSG00000005073	ENSG00000005073		"""Homeoboxes / ANTP class : HOXL subclass"""	5101	protein-coding gene	gene with protein product		142958	"""homeo box A11"""	HOX1I, HOX1		1973146, 1358459	Standard	NM_005523		Approved		uc003syx.3	P31270	OTTHUMG00000023437	ENST00000006015.3:c.895delA	7.37:g.27222462delT	ENSP00000006015:p.Ile299fs						p.I299fs	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN			2	966	-			299					A4D190	Frame_Shift_Del	DEL	ENST00000006015.3	37	c.895delA	CCDS5411.1																																																																																				0.448	HOXA11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358754.1			8	650						8	650	---	---	---	---
BBS9	27241	broad.mit.edu	37	7	33312723	33312723	+	Frame_Shift_Del	DEL	T	T	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:33312723delT	ENST00000242067.6	+	8	1323	c.802delT	c.(802-804)tttfs	p.F269fs	BBS9_ENST00000354265.4_Frame_Shift_Del_p.F269fs|BBS9_ENST00000396127.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000350941.3_Frame_Shift_Del_p.F269fs|BBS9_ENST00000355070.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000425508.2_Frame_Shift_Del_p.F224fs	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	269					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TGAGAGAAACTTTTTTTGCCT	0.393									Bardet-Biedl syndrome																													ENST00000242067.6																		BBS9/PKD1L1(2)	0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50						c.(802-804)ttfs		Bardet-Biedl syndrome 9							211.0	205.0	207.0					7																	33312723		2203	4300	6503	SO:0001589	frameshift_variant	27241	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33312723delT		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.802delT	7.37:g.33312723delT	ENSP00000242067:p.Phe269fs					BBS9_ENST00000425508.2_Frame_Shift_Del_p.F224fs|BBS9_ENST00000396127.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000355070.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000354265.4_Frame_Shift_Del_p.F269fs|BBS9_ENST00000350941.3_Frame_Shift_Del_p.F269fs	p.F269fs	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		8	1323	+			269					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Frame_Shift_Del	DEL	ENST00000242067.6	37	c.802delT	CCDS43566.1																																																																																				0.393	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			8	976						8	976	---	---	---	---
DPY19L2P1	554236	broad.mit.edu	37	7	35145789	35145793	+	RNA	DEL	CTAAA	CTAAA	-	rs201156272|rs76141590	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:35145789_35145793delCTAAA	ENST00000436258.1	-	0	1553_1557							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										GTGACTATCTCTAAACTACTTAGGA	0.19														397	0.0792732	0.0295	0.0692	5008	,	,		16112	0.0675		0.1024	False		,,,				2504	0.1421					ENST00000436258.1																			0																																																			0							g.chr7:35145789_35145793delCTAAA	BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35145789_35145793delCTAAA														0	1553_1557	-								B4E2E3	RNA	DEL	ENST00000436258.1	37																																																																																						0.190	DPY19L2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338113.1			7	18						7	18	---	---	---	---
POLM	27434	broad.mit.edu	37	7	44120414	44120414	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:44120414delG	ENST00000242248.5	-	2	391	c.290delC	c.(289-291)ccafs	p.P97fs	POLM_ENST00000395831.3_Frame_Shift_Del_p.P97fs|POLM_ENST00000335195.6_Frame_Shift_Del_p.P97fs	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	97	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CAGCAGAGCTGGGGGGGTGCA	0.637								DNA polymerases (catalytic subunits)																														ENST00000242248.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						c.(289-291)cafs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), mu							49.0	57.0	54.0					7																	44120414		2203	4300	6503	SO:0001589	frameshift_variant	27434				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr7:44120414delG	AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"""DNA polymerases"""	9185	protein-coding gene	gene with protein product	"""Pol iota"""	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.290delC	7.37:g.44120414delG	ENSP00000242248:p.Pro97fs					POLM_ENST00000395831.3_Frame_Shift_Del_p.P97fs|POLM_ENST00000335195.6_Frame_Shift_Del_p.P97fs	p.P97fs	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN			2	391	-			97			BRCT.		D3DVK4|Q6P5X8|Q86WQ9	Frame_Shift_Del	DEL	ENST00000242248.5	37	c.290delC	CCDS34625.1																																																																																				0.637	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1	NM_013284		7	802						7	802	---	---	---	---
PURB	5814	broad.mit.edu	37	7	44924131	44924131	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:44924131delA	ENST00000395699.2	-	1	829	c.817delT	c.(817-819)tgcfs	p.C273fs	MIR4657_ENST00000578157.1_RNA|RP4-673M15.1_ENST00000608450.1_RNA	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	273					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of myeloid cell differentiation (GO:0045637)|transcription, DNA-templated (GO:0006351)	DNA replication factor A complex (GO:0005662)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						GCATACCGGCAAAAGGCGCCT	0.582																																						ENST00000395699.2																			0				large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						c.(817-819)gcfs		purine-rich element binding protein B							95.0	104.0	101.0					7																	44924131		2203	4300	6503	SO:0001589	frameshift_variant	5814				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding	g.chr7:44924131delA		CCDS5499.1	7p13	2008-07-18			ENSG00000146676	ENSG00000146676			9702	protein-coding gene	gene with protein product		608887				1448097	Standard	NM_033224		Approved	PURBETA	uc003tme.3	Q96QR8	OTTHUMG00000023578	ENST00000395699.2:c.817delT	7.37:g.44924131delA	ENSP00000379051:p.Cys273fs						p.C273fs	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN			1	829	-			273					A4D2L7	Frame_Shift_Del	DEL	ENST00000395699.2	37	c.817delT	CCDS5499.1																																																																																				0.582	PURB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251332.2	NM_033224		8	1111						8	1111	---	---	---	---
INTS4L2	644619	broad.mit.edu	37	7	65171408	65171409	+	RNA	INS	-	-	TTCAGACC	rs61067766|rs201380497	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:65171408_65171409insTTCAGACC	ENST00000430126.2	+	0	1389							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		AGGTAAGCTTATTCCCTTCAAA	0.505														2214	0.442093	0.8101	0.4669	5008	,	,		8998	0.251		0.2863	False		,,,				2504	0.2843					ENST00000430126.2																			0																																																			0							g.chr7:65171408_65171409insTTCAGACC	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65171408_65171409insTTCAGACC														0	1389	+									RNA	INS	ENST00000430126.2	37																																																																																						0.505	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		7	81						7	81	---	---	---	---
HIP1	3092	broad.mit.edu	37	7	75168684	75168684	+	Frame_Shift_Del	DEL	T	T	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:75168684delT	ENST00000336926.6	-	30	3046	c.3020delA	c.(3019-3021)aagfs	p.K1007fs	HIP1_ENST00000434438.2_Frame_Shift_Del_p.K956fs	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	1007	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTCGTAGTGCTTTTTCCGAAG	0.507			T	PDGFRB	CMML																																	ENST00000336926.6				Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(3019-3021)agfs		huntingtin interacting protein 1							303.0	294.0	297.0					7																	75168684		2203	4300	6503	SO:0001589	frameshift_variant	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75168684delT	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.3020delA	7.37:g.75168684delT	ENSP00000336747:p.Lys1007fs					HIP1_ENST00000434438.2_Frame_Shift_Del_p.K956fs	p.K1007fs	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN			30	3046	-			1007			I/LWEQ.		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Frame_Shift_Del	DEL	ENST00000336926.6	37	c.3020delA	CCDS34669.1																																																																																				0.507	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		8	2150						8	2150	---	---	---	---
DTX2	113878	broad.mit.edu	37	7	76112249	76112249	+	Frame_Shift_Del	DEL	A	A	-	rs147779783	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:76112249delA	ENST00000324432.5	+	5	1203	c.693delA	c.(691-693)ccafs	p.P231fs	DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	231					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						AGCACCCCCCACACAGGACCG	0.657																																						ENST00000324432.5																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						c.(691-693)ccfs		deltex homolog 2 (Drosophila)							125.0	130.0	128.0					7																	76112249		2203	4300	6503	SO:0001589	frameshift_variant	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76112249delA		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.693delA	7.37:g.76112249delA	ENSP00000322885:p.Pro231fs					DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs	p.P231fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN			5	1203	+			231					Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Frame_Shift_Del	DEL	ENST00000324432.5	37	c.693delA	CCDS5587.1																																																																																				0.657	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			7	2082						7	2082	---	---	---	---
GIGYF1	64599	broad.mit.edu	37	7	100283635	100283637	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:100283635_100283637delTCC	ENST00000275732.5	-	9	2223_2225	c.1014_1016delGGA	c.(1012-1017)gaggaa>gaa	p.338_339EE>E	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	338	Poly-Glu.				insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TTCGGAAGGTTCCTCCTCCTCCT	0.675																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1012-1017)gaa>ga		GRB10 interacting GYF protein 1																																				SO:0001651	inframe_deletion	64599							g.chr7:100283635_100283637delTCC	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.1014_1016delGGA	7.37:g.100283644_100283646delTCC	ENSP00000275732:p.Glu339del					GIGYF1_ENST00000471340.2_Intron	p.EE338del	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			9	2223_2225	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		338			Poly-Glu.		Q6Y7W7|Q8WZ38	In_Frame_Del	DEL	ENST00000275732.5	37	c.1014_1016delGGA	CCDS34708.1																																																																																				0.675	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		7	414						7	414	---	---	---	---
TRBV7-8	28590	broad.mit.edu	37	7	142099832	142099833	+	RNA	DEL	CA	CA	-	rs377589241|rs150299545|rs527701975	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:142099832_142099833delCA	ENST00000390359.3	-	0	88									T cell receptor beta variable 7-8																		accactctctcacacacacaca	0.455																																						ENST00000390359.3																			0																	68,3612		7,54,1779						-5.2	0.0			58	51,7855		15,21,3917	no	intergenic				22,75,5696	A1A1,A1R,RR		0.6451,1.8478,1.0271				119,11467						0							g.chr7:142099832_142099833delCA	M11953		7q34	2012-02-07			ENSG00000229200			"""T cell receptors / TRB locus"""	12242	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV78, TCRBV6S2A1N1T, TCRBV7S8			OTTHUMG00000158875		7.37:g.142099842_142099843delCA														0	88	-									RNA	DEL	ENST00000390359.3	37																																																																																						0.455	TRBV7-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352483.1	NG_001333		8	431						8	431	---	---	---	---
ZNF704	619279	broad.mit.edu	37	8	81733778	81733778	+	Frame_Shift_Del	DEL	T	T	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:81733778delT	ENST00000327835.3	-	2	283	c.52delA	c.(52-54)atgfs	p.M18fs		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	18							metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TGATGAGACATTTTTTTACCA	0.423																																						ENST00000327835.3																			0				lung(9)|skin(1)|upper_aerodigestive_tract(1)	11						c.(52-54)tgfs		zinc finger protein 704							249.0	238.0	242.0					8																	81733778		2203	4300	6503	SO:0001589	frameshift_variant	619279					intracellular	zinc ion binding	g.chr8:81733778delT	AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.52delA	8.37:g.81733778delT	ENSP00000331462:p.Met18fs						p.M18fs	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)		2	283	-	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		18					B2RNE6|B9EGW6	Frame_Shift_Del	DEL	ENST00000327835.3	37	c.52delA	CCDS34913.1																																																																																				0.423	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2	NM_001033723		8	1337						8	1337	---	---	---	---
DPYS	1807	broad.mit.edu	37	8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aaafs	p.K362fs	AP003471.2_ENST00000410226.1_RNA	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1084-1086)aafs		dihydropyrimidinase							179.0	176.0	177.0					8																	105440214		2203	4300	6503	SO:0001589	frameshift_variant	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105440214delT	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1086delA	8.37:g.105440214delT	ENSP00000276651:p.Lys362fs						p.K362fs	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		6	1218	-			362						Frame_Shift_Del	DEL	ENST00000351513.2	37	c.1086delA	CCDS6302.1																																																																																				0.478	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		7	1207						7	1207	---	---	---	---
RANBP6	26953	broad.mit.edu	37	9	6012690	6012690	+	Frame_Shift_Del	DEL	T	T	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:6012690delT	ENST00000259569.5	-	1	2928	c.2918delA	c.(2917-2919)aatfs	p.N973fs	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	973					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.N973fs*12(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AGCAATGACATTTTTTTTGGT	0.358																																						ENST00000259569.5																			1	Deletion - Frameshift(1)	p.N973fs*12(1)	ovary(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2917-2919)atfs		RAN binding protein 6							109.0	102.0	104.0					9																	6012690		2203	4300	6503	SO:0001589	frameshift_variant	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6012690delT	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2918delA	9.37:g.6012690delT	ENSP00000259569:p.Asn973fs						p.N973fs	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	2928	-		Acute lymphoblastic leukemia(23;0.158)	973					Q5T7X4|Q7Z3V2|Q96E78	Frame_Shift_Del	DEL	ENST00000259569.5	37	c.2918delA	CCDS6467.1																																																																																				0.358	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		10	429						10	429	---	---	---	---
NOL6	65083	broad.mit.edu	37	9	33464069	33464069	+	Frame_Shift_Del	DEL	T	T	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:33464069delT	ENST00000379471.2	-	22	2957	c.2870delA	c.(2869-2871)aacfs	p.N957fs	NOL6_ENST00000455041.2_Frame_Shift_Del_p.N905fs|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	957					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CCACACAGAGTTTTTGCGGTC	0.572																																						ENST00000379471.2																			0				endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.(2869-2871)acfs		nucleolar protein 6 (RNA-associated)							155.0	137.0	143.0					9																	33464069		2203	4300	6503	SO:0001589	frameshift_variant	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33464069delT	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.2870delA	9.37:g.33464069delT	ENSP00000368784:p.Asn957fs					NOL6_ENST00000455041.2_Frame_Shift_Del_p.N905fs|NOL6_ENST00000464829.1_Intron	p.N957fs			Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	22	2957	-			957					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Frame_Shift_Del	DEL	ENST00000379471.2	37	c.2870delA																																																																																					0.572	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		8	913						8	913	---	---	---	---
ZNF658	26149	broad.mit.edu	37	9	40772411	40772411	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:40772411delA	ENST00000602553.1	-	5	3158	c.2864delT	c.(2863-2865)gtafs	p.V955fs	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Frame_Shift_Del_p.V955fs			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	955					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCTTTGATGTACTCTGAGGGT	0.423																																						ENST00000602553.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46						c.(2863-2865)gafs		zinc finger protein 658							35.0	38.0	37.0					9																	40772411		1502	3165	4667	SO:0001589	frameshift_variant	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40772411delA	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.2864delT	9.37:g.40772411delA	ENSP00000473484:p.Val955fs					ZNF658_ENST00000377626.3_Frame_Shift_Del_p.V955fs|ZNF658_ENST00000441795.1_Intron	p.V955fs			Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	3158	-			955					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Frame_Shift_Del	DEL	ENST00000602553.1	37	c.2864delT	CCDS35023.1																																																																																				0.423	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		155	713						155	713	---	---	---	---
PGM5P2	595135	broad.mit.edu	37	9	69127140	69127140	+	RNA	DEL	A	A	-	rs200327551|rs374684229	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:69127140delA	ENST00000591037.1	-	0	430					NR_002836.2				phosphoglucomutase 5 pseudogene 2																		TAAACCATCCAAAAAAAAAAA	0.403													|||unknown(HR)	1282	0.25599	0.3495	0.2709	5008	,	,		15108	0.2222		0.2634	False		,,,				2504	0.1462					ENST00000591037.1																			0																																																			0							g.chr9:69127140delA	BC007887, BC025351		9q12	2014-01-23			ENSG00000227558	ENSG00000277778			18965	pseudogene	pseudogene						12421752, 15233989	Standard	NR_002836		Approved		uc004aff.4		OTTHUMG00000013322		9.37:g.69127140delA								NR_002836.2						0	430	-									RNA	DEL	ENST00000591037.1	37																																																																																						0.403	PGM5P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000460890.1	NR_002836		31	129						31	129	---	---	---	---
RP11-202I11.2	0	broad.mit.edu	37	9	88370966	88370966	+	lincRNA	DEL	T	T	-	rs368558537|rs576234885		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:88370966delT	ENST00000447148.1	-	0	419																											AAACAAGtaatttttttttta	0.274																																						ENST00000447148.1																			0																																																			0							g.chr9:88370966delT																													9.37:g.88370966delT														0	419	-									RNA	DEL	ENST00000447148.1	37																																																																																						0.274	RP11-202I11.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000052889.1			7	76						7	76	---	---	---	---
SYT15	83849	broad.mit.edu	37	10	46969401	46969403	+	In_Frame_Del	DEL	CAG	CAG	-	rs368995487		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr10:46969401_46969403delCAG	ENST00000374321.4	-	2	124_126	c.58_60delCTG	c.(58-60)ctgdel	p.L21del	SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374323.4_Intron|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374325.3_In_Frame_Del_p.L21del	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCCCGATCAACAGCAGCAGCAGC	0.631																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374325.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(58-60)del		synaptotagmin XV																																				SO:0001651	inframe_deletion	83849					integral to membrane|plasma membrane		g.chr10:46969401_46969403delCAG	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.58_60delCTG	10.37:g.46969410_46969412delCAG	ENSP00000363441:p.Leu21del					SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374321.4_In_Frame_Del_p.L21del|SYT15_ENST00000374323.3_Intron	p.L21del	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN			2	210_212	-			21					A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	In_Frame_Del	DEL	ENST00000374321.4	37	c.58_60delCTG	CCDS44376.1																																																																																				0.631	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		9	298						9	298	---	---	---	---
INA	9118	broad.mit.edu	37	10	105048271	105048273	+	In_Frame_Del	DEL	GAG	GAG	-	rs545805667	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr10:105048271_105048273delGAG	ENST00000369849.4	+	3	1394_1396	c.1345_1347delGAG	c.(1345-1347)gagdel	p.E454del		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	454	Poly-Glu.|Tail.				cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)	p.E449_E450delEE(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ACTTAAGAAAGAGGAGGAGGAGG	0.458														3	0.000599042	0.0008	0.0	5008	,	,		16930	0.001		0.0	False		,,,				2504	0.001					ENST00000369849.4																			1	Deletion - In frame(1)	p.E449_E450delEE(1)	breast(1)	breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13						c.(1345-1347)del		internexin neuronal intermediate filament protein, alpha																																				SO:0001651	inframe_deletion	9118				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton	g.chr10:105048271_105048273delGAG	S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"""Intermediate filaments type IV"""	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.1345_1347delGAG	10.37:g.105048280_105048282delGAG	ENSP00000358865:p.Glu454del						p.E454del	NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN		Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	3	1394_1396	+			454			Poly-Glu.|Tail.		B1AQK0|Q9BRC5	In_Frame_Del	DEL	ENST00000369849.4	37	c.1345_1347delGAG	CCDS7545.1																																																																																				0.458	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	NM_032727		11	531						11	531	---	---	---	---
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr10:125528165_125528167delCAG	ENST00000241305.3	-	9	1328_1330	c.1174_1176delCTG	c.(1174-1176)ctgdel	p.L392del	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	392	Poly-Leu.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(1174-1176)del		carboxypeptidase X (M14 family), member 2																																				SO:0001651	inframe_deletion	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125528165_125528167delCAG	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1174_1176delCTG	10.37:g.125528174_125528176delCAG	ENSP00000241305:p.Leu392del					CPXM2_ENST00000368854.3_5'UTR	p.L392del	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	9	1328_1330	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	392			Poly-Leu.		B4E3Q2	In_Frame_Del	DEL	ENST00000241305.3	37	c.1174_1176delCTG	CCDS7637.1																																																																																				0.626	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		14	934						14	934	---	---	---	---
CHST15	51363	broad.mit.edu	37	10	125780764	125780765	+	Intron	DEL	GT	GT	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr10:125780764_125780765delGT	ENST00000346248.5	-	6	1990				CHST15_ENST00000421115.1_Frame_Shift_Del_p.T452fs|CHST15_ENST00000435907.1_Intron	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15						carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GGGGGGGGGGGTACACACAGGC	0.54																																						ENST00000421115.1																			0				endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						c.(1354-1356)cfs		carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15																																				SO:0001627	intron_variant	51363				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125780764_125780765delGT	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.1347+6AC>-	10.37:g.125780764_125780765delGT						CHST15_ENST00000346248.5_Intron|CHST15_ENST00000435907.1_Intron	p.T452fs	NM_001270765.1|NM_014863.3	NP_001257694.1|NP_055678.2	Q7LFX5	CHSTF_HUMAN			6	2087_2088	-			0					O60338|O60474|Q86VM4	Frame_Shift_Del	DEL	ENST00000346248.5	37	c.1354_1355delAC	CCDS7638.1																																																																																				0.540	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892		8	122						8	122	---	---	---	---
SPON1	10418	broad.mit.edu	37	11	14276276	14276277	+	RNA	DEL	GT	GT	-	rs144833103		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:14276276_14276277delGT	ENST00000310358.7	+	0	1627							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GACCTATGAGGTGTGTGTGTGT	0.594																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein				1,106,4101		0,0,1,3,100,2000						5.7	1.0		dbSNP_134	77	4,167,8025		0,0,4,1,165,3928	no	splice-5	SPON1	NM_006108.3		0,0,5,4,265,5928	A1A1,A1A2,A1R,A2A2,A2R,RR		2.0864,2.5428,2.2412				5,273,12126						10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14276276_14276277delGT	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14276286_14276287delGT										Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	1627	+								A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	DEL	ENST00000310358.7	37																																																																																						0.594	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584		7	311						7	311	---	---	---	---
PHF21A	51317	broad.mit.edu	37	11	46001356	46001358	+	In_Frame_Del	DEL	GTG	GTG	-	rs372037631		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:46001356_46001358delGTG	ENST00000418153.2	-	6	512_514	c.313_315delCAC	c.(313-315)cacdel	p.H105del	PHF21A_ENST00000257821.4_In_Frame_Del_p.H105del|PHF21A_ENST00000323180.6_In_Frame_Del_p.H105del			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	105	Gln-rich.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						actgctgggcgtggtggtggtgg	0.488																																						ENST00000257821.4																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						c.(313-315)del		PHD finger protein 21A																																				SO:0001651	inframe_deletion	51317				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding	g.chr11:46001356_46001358delGTG	AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.313_315delCAC	11.37:g.46001365_46001367delGTG	ENSP00000398824:p.His105del					PHF21A_ENST00000418153.2_In_Frame_Del_p.H105del|PHF21A_ENST00000323180.6_In_Frame_Del_p.H105del	p.H105del	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN			6	936_938	-			105			Gln-rich.		D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	In_Frame_Del	DEL	ENST00000418153.2	37	c.313_315delCAC	CCDS44578.1																																																																																				0.488	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621		8	323						8	323	---	---	---	---
CKAP5	9793	broad.mit.edu	37	11	46829683	46829683	+	Frame_Shift_Del	DEL	T	T	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:46829683delT	ENST00000529230.1	-	8	922	c.876delA	c.(874-876)aaafs	p.K292fs	CKAP5_ENST00000312055.5_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000415402.1_Frame_Shift_Del_p.K292fs			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	292					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCTCTTGCCATTTTTTTGCCT	0.363																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(874-876)aafs		cytoskeleton associated protein 5							163.0	173.0	169.0					11																	46829683		2201	4299	6500	SO:0001589	frameshift_variant	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46829683delT		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.876delA	11.37:g.46829683delT	ENSP00000432768:p.Lys292fs					CKAP5_ENST00000415402.1_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000312055.5_Frame_Shift_Del_p.K292fs	p.K292fs			Q14008	CKAP5_HUMAN			8	922	-			292					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Frame_Shift_Del	DEL	ENST00000529230.1	37	c.876delA	CCDS31477.1																																																																																				0.363	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		7	1049						7	1049	---	---	---	---
FADS2	9415	broad.mit.edu	37	11	61607885	61607887	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:61607885_61607887delTCC	ENST00000278840.4	+	3	1028_1030	c.398_400delTCC	c.(397-402)ttcctc>ttc	p.L137del	FADS2_ENST00000522056.1_In_Frame_Del_p.L106del|FADS2_ENST00000257261.6_In_Frame_Del_p.L115del|FADS2_ENST00000521849.1_In_Frame_Del_p.L137del	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	137				LLLL -> RTRG (in Ref. 9; CAB43280). {ECO:0000305}.	alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CACGTGTTCTTCCTCCTCCTCCT	0.537																																						ENST00000278840.4																			0				breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						c.(397-402)ttc>t		fatty acid desaturase 2	Alpha-Linolenic Acid(DB00132)																																			SO:0001651	inframe_deletion	9415				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding	g.chr11:61607885_61607887delTCC	AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"""Fatty acid desaturases"""	3575	protein-coding gene	gene with protein product	"""delta-6-desaturase"""	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.398_400delTCC	11.37:g.61607894_61607896delTCC	ENSP00000278840:p.Leu137del					FADS2_ENST00000257261.6_In_Frame_Del_p.FL111del|FADS2_ENST00000522056.1_In_Frame_Del_p.FL102del|FADS2_ENST00000521849.1_In_Frame_Del_p.FL133del	p.FL133del	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN			3	1028_1030	+			133					A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	In_Frame_Del	DEL	ENST00000278840.4	37	c.398_400delTCC	CCDS8012.1																																																																																				0.537	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375586.2	NM_004265		11	957						11	957	---	---	---	---
LRFN4	78999	broad.mit.edu	37	11	66625231	66625233	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:66625231_66625233delCTG	ENST00000309602.4	+	1	259_261	c.16_18delCTG	c.(16-18)ctgdel	p.L10del	LRFN4_ENST00000531590.1_3'UTR|PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_In_Frame_Del_p.L10del|PC_ENST00000393955.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	10						integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						CCCGCCGCTCCTGCTGCTGCTGC	0.719																																						ENST00000309602.4																			0				breast(1)|lung(1)|prostate(1)	3						c.(16-18)del		leucine rich repeat and fibronectin type III domain containing 4			,,,	48,4006		2,44,1981					,,,	0.9	1.0			14	131,7663		10,111,3776	no	coding,intron,intron,intron	PC,LRFN4	NM_024036.4,NM_022172.2,NM_001040716.1,NM_000920.3	,,,	12,155,5757	A1A1,A1R,RR		1.6808,1.184,1.5108	,,,	,,,		179,11669				SO:0001651	inframe_deletion	78999					integral to membrane		g.chr11:66625231_66625233delCTG	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28456	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 6"""	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.16_18delCTG	11.37:g.66625240_66625242delCTG	ENSP00000312535:p.Leu10del					PC_ENST00000393960.1_Intron|LRFN4_ENST00000531590.1_3'UTR|PC_ENST00000393958.2_Intron|PC_ENST00000393955.2_Intron|LRFN4_ENST00000393952.3_In_Frame_Del_p.L10del	p.L10del	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN			1	259_261	+			10					Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	In_Frame_Del	DEL	ENST00000309602.4	37	c.16_18delCTG	CCDS8153.1																																																																																				0.719	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036		11	250						11	250	---	---	---	---
TSKU	25987	broad.mit.edu	37	11	76506673	76506675	+	In_Frame_Del	DEL	CTG	CTG	-	rs149062181		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:76506673_76506675delCTG	ENST00000527881.1	+	2	1039_1041	c.13_15delCTG	c.(13-15)ctgdel	p.L9del	TSKU_ENST00000333090.4_In_Frame_Del_p.L9del			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	9					anterior commissure morphogenesis (GO:0021960)|ciliary body morphogenesis (GO:0061073)|corpus callosum morphogenesis (GO:0021540)|lateral ventricle development (GO:0021670)|negative regulation of Wnt signaling pathway (GO:0030178)|regulation of gene expression (GO:0010468)	extracellular space (GO:0005615)				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GCCGTGGCCCCTGCTGCTGCTGC	0.616																																						ENST00000527881.1																			0				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12						c.(13-15)del		tsukushi, small leucine rich proteoglycan																																				SO:0001651	inframe_deletion	25987					extracellular region		g.chr11:76506673_76506675delCTG	AK075476	CCDS8246.1	11q13.5	2012-12-05	2012-12-05	2006-11-21	ENSG00000182704	ENSG00000182704			28850	protein-coding gene	gene with protein product		608015	"""leucine rich repeat containing 54"", ""tsukushin"", ""tsukushi small leucine rich proteoglycan homolog (Xenopus laevis)"""	LRRC54		11085516, 19710929, 22880013	Standard	NM_001258210		Approved	E2IG4, TSK	uc031qcw.1	Q8WUA8		ENST00000527881.1:c.13_15delCTG	11.37:g.76506682_76506684delCTG	ENSP00000434847:p.Leu9del					TSKU_ENST00000333090.4_In_Frame_Del_p.L9del	p.L9del			Q8WUA8	TSK_HUMAN			2	1039_1041	+	Ovarian(111;0.112)		9					B3KQT7|Q6UXK1|Q9UG10|Q9UJX9	In_Frame_Del	DEL	ENST00000527881.1	37	c.13_15delCTG	CCDS8246.1																																																																																				0.616	TSKU-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382871.1	NM_015516		14	350						14	350	---	---	---	---
NDUFC2	4718	broad.mit.edu	37	11	77784147	77784147	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:77784147delA	ENST00000281031.4	-	2	681	c.207delT	c.(205-207)tttfs	p.F69fs	NDUFC2-KCTD14_ENST00000530054.1_Frame_Shift_Del_p.F69fs|NDUFC2_ENST00000527806.1_Frame_Shift_Del_p.F69fs|NDUFC2_ENST00000534029.1_Intron|NDUFC2_ENST00000525085.1_Intron|NDUFC2-KCTD14_ENST00000528251.1_Intron|NDUFC2_ENST00000528164.1_Frame_Shift_Del_p.F69fs	NM_001204055.1|NM_004549.5	NP_001190984.1|NP_004540.1	O95298	NDUC2_HUMAN	NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa	69					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)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.F69fs*7(1)		large_intestine(1)|lung(2)|prostate(1)	4	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)		Carvedilol(DB01136)	AATATCCAGCAAAAAAAAAGG	0.358																																						ENST00000281031.4																			1	Deletion - Frameshift(1)	p.F69fs*7(1)	large_intestine(1)	large_intestine(1)|lung(2)|prostate(1)	4						c.(205-207)ttfs		NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa							83.0	84.0	83.0					11																	77784147		2200	4292	6492	SO:0001589	frameshift_variant	4718							g.chr11:77784147delA	AF087659	CCDS8257.1, CCDS55779.1, CCDS55781.1	11q14.1	2011-07-04	2002-08-29		ENSG00000151366	ENSG00000151366		"""Mitochondrial respiratory chain complex / Complex I"""	7706	protein-coding gene	gene with protein product	"""human lung cancer oncogene 1"", ""complex I subunit B14.5b"""	603845	"""NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2 (14.5kD, B14.5b)"""			9878551	Standard	NM_001204055		Approved	B14.5b, HLC-1		O95298		ENST00000281031.4:c.207delT	11.37:g.77784147delA	ENSP00000281031:p.Phe69fs					NDUFC2-KCTD14_ENST00000528251.1_Intron|NDUFC2_ENST00000534029.1_Intron|NDUFC2_ENST00000525085.1_Intron|NDUFC2_ENST00000527806.1_Frame_Shift_Del_p.F69fs|NDUFC2-KCTD14_ENST00000530054.1_Frame_Shift_Del_p.F69fs|NDUFC2_ENST00000528164.1_Frame_Shift_Del_p.F69fs	p.F69fs	NM_001204055.1|NM_004549.5	NP_001190984.1|NP_004540.1			OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)		2	681	-	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)							E9PNU8|E9PRB2|Q549M5|Q6FIH8|Q9UBJ9	Frame_Shift_Del	DEL	ENST00000281031.4	37	c.207delT	CCDS8257.1																																																																																				0.358	NDUFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390821.1	NM_004549		17	622						17	622	---	---	---	---
PHLDB1	23187	broad.mit.edu	37	11	118514602	118514604	+	In_Frame_Del	DEL	TCC	TCC	-	rs533107188|rs563191533		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:118514602_118514604delTCC	ENST00000361417.2	+	15	3373_3375	c.2962_2964delTCC	c.(2962-2964)tccdel	p.S992del	PHLDB1_ENST00000527898.1_In_Frame_Del_p.S28del|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_In_Frame_Del_p.S945del|PHLDB1_ENST00000524713.1_In_Frame_Del_p.S135del	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	992										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ctctggctcttcctcctcctcct	0.65																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(2962-2964)del		pleckstrin homology-like domain, family B, member 1																																				SO:0001651	inframe_deletion	23187							g.chr11:118514602_118514604delTCC		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.2962_2964delTCC	11.37:g.118514611_118514613delTCC	ENSP00000354498:p.Ser992del					PHLDB1_ENST00000527898.1_In_Frame_Del_p.S28del|PHLDB1_ENST00000524713.1_In_Frame_Del_p.S135del|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_In_Frame_Del_p.S945del	p.S992del	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	15	3373_3375	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	992					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	In_Frame_Del	DEL	ENST00000361417.2	37	c.2962_2964delTCC	CCDS8401.1																																																																																				0.650	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		7	345						7	345	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6711207	6711209	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:6711207_6711209delCTT	ENST00000357008.2	-	4	518_520	c.355_357delAAG	c.(355-357)aagdel	p.K119del	CHD4_ENST00000544040.1_In_Frame_Del_p.K112del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del|CHD4_ENST00000309577.6_In_Frame_Del_p.K119del	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	119	Poly-Lys.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.K119delK(3)		central_nervous_system(2)	2						TAGGTCCAAGCTTCTTCTTCTTC	0.537																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			3	Deletion - In frame(3)	p.K119delK(3)	central_nervous_system(3)	central_nervous_system(2)	2						c.(355-357)del		chromodomain helicase DNA binding protein 4				115,4123		4,107,2008						4.7	1.0			29	227,7995		2,223,3886	no	coding	CHD4	NM_001273.2		6,330,5894	A1A1,A1R,RR		2.7609,2.7135,2.7448				342,12118				SO:0001651	inframe_deletion	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6711207_6711209delCTT	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.355_357delAAG	12.37:g.6711216_6711218delCTT	ENSP00000349508:p.Lys119del					CHD4_ENST00000357008.2_In_Frame_Del_p.K119del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del	p.K119del			Q14839	CHD4_HUMAN			4	518_520	-			119			Poly-Lys.		Q8IXZ5	In_Frame_Del	DEL	ENST00000357008.2	37	c.355_357delAAG	CCDS8552.1																																																																																				0.537	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		9	308						9	308	---	---	---	---
MFAP5	8076	broad.mit.edu	37	12	8804269	8804269	+	Frame_Shift_Del	DEL	T	T	-	rs139330366	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:8804269delT	ENST00000359478.2	-	7	423	c.236delA	c.(235-237)aatfs	p.N79fs	MFAP5_ENST00000433590.2_Intron|MFAP5_ENST00000396549.2_Intron|MFAP5_ENST00000543369.1_Intron|MFAP5_ENST00000540087.1_Intron|MFAP5_ENST00000535336.1_Intron|MFAP5_ENST00000538107.1_5'Flank	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	79					extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					TGCAGTGGTATTTTTTTCACT	0.423																																						ENST00000359478.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13						c.(235-237)atfs		microfibrillar associated protein 5							145.0	135.0	139.0					12																	8804269		2203	4300	6503	SO:0001589	frameshift_variant	8076					microfibril	extracellular matrix structural constituent	g.chr12:8804269delT	AK124368	CCDS8595.1, CCDS73437.1	12p13.1-p12.3	2004-04-05				ENSG00000197614			29673	protein-coding gene	gene with protein product		601103				9792630, 8557636	Standard	XM_005253485		Approved	MAGP2, MP25	uc001qut.1	Q13361		ENST00000359478.2:c.236delA	12.37:g.8804269delT	ENSP00000352455:p.Asn79fs					MFAP5_ENST00000433590.2_Intron|MFAP5_ENST00000543369.1_Intron|MFAP5_ENST00000540087.1_Intron|MFAP5_ENST00000396549.2_Intron|MFAP5_ENST00000535336.1_Intron	p.N79fs	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN			7	423	-	Lung SC(5;0.184)		79					B0AZL6|D3DUV1|Q7Z490	Frame_Shift_Del	DEL	ENST00000359478.2	37	c.236delA	CCDS8595.1																																																																																				0.423	MFAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400656.2	NM_003480		7	696						7	696	---	---	---	---
SCAF11	9169	broad.mit.edu	37	12	46320707	46320708	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:46320707_46320708delTC	ENST00000369367.3	-	11	3009_3010	c.2776_2777delGA	c.(2776-2778)gaafs	p.E926fs	SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs|SCAF11_ENST00000465950.1_Frame_Shift_Del_p.E611fs	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	926	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGTTCTCCTTTCTCTCTCTCTC	0.446																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(1831-1833)afs		SR-related CTD-associated factor 11																																				SO:0001589	frameshift_variant	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46320707_46320708delTC	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2776_2777delGA	12.37:g.46320717_46320718delTC	ENSP00000358374:p.Glu926fs					SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs|SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000369367.3_Frame_Shift_Del_p.E926fs	p.E611fs			Q99590	SCAFB_HUMAN			1	3040_3041	-			926					A6NEU9|A6NLW5|Q8IW59	Frame_Shift_Del	DEL	ENST00000369367.3	37	c.1831_1832delGA	CCDS8748.2																																																																																				0.446	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		8	898						8	898	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57605740	57605742	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:57605740_57605742delTGC	ENST00000243077.3	+	87	13755_13757	c.13289_13291delTGC	c.(13288-13293)ttgctg>ttg	p.4430_4431LL>L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4430					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTCTGCTGTTGCTGCTGCTGCT	0.557																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(13288-13293)ttg>t		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)																																			SO:0001651	inframe_deletion	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57605740_57605742delTGC	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.13289_13291delTGC	12.37:g.57605749_57605751delTGC	ENSP00000243077:p.Leu4434del						p.LL4432del	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	87	13755_13757	+			4432					Q2PP12|Q86SW0|Q8IVG8	In_Frame_Del	DEL	ENST00000243077.3	37	c.13289_13291delTGC	CCDS8932.1																																																																																				0.557	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		8	766						8	766	---	---	---	---
DDX55	57696	broad.mit.edu	37	12	124103201	124103202	+	Intron	DEL	TG	TG	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:124103201_124103202delTG	ENST00000238146.4	+	12	1214				DDX55_ENST00000541259.1_Intron|DDX55_ENST00000421670.3_De_novo_Start_InFrame|SNORA9_ENST00000384170.1_RNA|DDX55_ENST00000538744.1_Intron	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55							membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		GAATGTGGTATGTGTGTGTGTG	0.52											OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000421670.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14								DEAD (Asp-Glu-Ala-Asp) box polypeptide 55																																				SO:0001627	intron_variant	57696						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:124103201_124103202delTG	AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"""DEAD-boxes"""	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.1165-14TG>-	12.37:g.124103211_124103212delTG			OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1531	DDX55_ENST00000238146.4_Intron|DDX55_ENST00000541259.1_Intron|DDX55_ENST00000538744.1_Intron				Q8NHQ9	DDX55_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)	0	639_640	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)							Q658L6|Q8IYH0|Q9HCH7	Translation_Start_Site	DEL	ENST00000238146.4	37		CCDS9251.1																																																																																				0.520	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2			7	299						7	299	---	---	---	---
TSC22D1	8848	broad.mit.edu	37	13	45148691	45148693	+	In_Frame_Del	DEL	TGT	TGT	-	rs148625973|rs541782956	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr13:45148691_45148693delTGT	ENST00000458659.2	-	1	2008_2010	c.1518_1520delACA	c.(1516-1521)caacag>cag	p.506_507QQ>Q	TSC22D1_ENST00000501704.2_In_Frame_Del_p.506_507QQ>Q|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	506	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TGgttgttgctgttgttgttgtt	0.502														87	0.0173722	0.0598	0.0086	5008	,	,		24285	0.0		0.0	False		,,,				2504	0.002					ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1516-1521)cag>ca		TSC22 domain family, member 1																																				SO:0001651	inframe_deletion	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45148691_45148693delTGT	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1518_1520delACA	13.37:g.45148700_45148702delTGT	ENSP00000397435:p.Gln509del					TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ508del	p.QQ508del	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	2008_2010	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	508			Gln-rich.		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	In_Frame_Del	DEL	ENST00000458659.2	37	c.1518_1520delACA	CCDS31966.1																																																																																				0.502	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		7	627						7	627	---	---	---	---
GAS6	2621	broad.mit.edu	37	13	114523857	114523858	+	Frame_Shift_Ins	INS	-	-	G	rs77167214|rs371833945|rs77565607	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr13:114523857_114523858insG	ENST00000327773.6	-	15	2162_2163	c.2016_2017insC	c.(2014-2019)cccgtgfs	p.V673fs	GAS6_ENST00000355761.4_Frame_Shift_Ins_p.V619fs|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000450766.1_Frame_Shift_Ins_p.V400fs|GAS6_ENST00000357389.3_Frame_Shift_Ins_p.V716fs|GAS6_ENST00000418959.3_Frame_Shift_Ins_p.V374fs	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	716	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)	p.P672P(1)		central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GCGGGCTCCACGGGGGGGCAGG	0.703																																						ENST00000357389.3																			1	Substitution - coding silent(1)	p.P672P(1)	endometrium(1)	central_nervous_system(4)|ovary(1)	5						c.(2143-2148)cctggafs		growth arrest-specific 6			,,	16,4206		2,12,2097					,,	2.5	0.0			27	14,8216		1,12,4102	no	frameshift,frameshift,frameshift	GAS6	NM_001143946.1,NM_001143945.1,NM_000820.2	,,	3,24,6199	A1A1,A1R,RR		0.1701,0.379,0.2409	,,	,,		30,12422				SO:0001589	frameshift_variant	2621				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity	g.chr13:114523857_114523858insG		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"""AXL stimulatory factor"""	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.2017dupC	13.37:g.114523864_114523864dupG	ENSP00000331831:p.Val673fs					GAS6_ENST00000355761.4_Frame_Shift_Ins_p.G619fs|GAS6_ENST00000327773.6_Frame_Shift_Ins_p.G673fs|GAS6_ENST00000480426.1_5'UTR|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000450766.1_Frame_Shift_Ins_p.G400fs|GAS6_ENST00000418959.3_Frame_Shift_Ins_p.G374fs	p.G716fs			Q14393	GAS6_HUMAN			15	2297_2298	-	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)	716					B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Frame_Shift_Ins	INS	ENST00000327773.6	37	c.2145_2146insC	CCDS45072.1																																																																																				0.703	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	NM_000820		9	247						9	247	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20086382	20086383	+	RNA	INS	-	-	AAAA	rs202177940		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr14:20086382_20086383insAAAA	ENST00000548261.1	+	0	135																											TCTTACAAGGTAAAAAAAATGA	0.312																																						ENST00000548261.1																			0																																																			0							g.chr14:20086382_20086383insAAAA																													14.37:g.20086387_20086390dupAAAA														0	135	+									RNA	INS	ENST00000548261.1	37																																																																																						0.312	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			11	58						11	58	---	---	---	---
TRAV24	28659	broad.mit.edu	37	14	22573824	22573825	+	RNA	INS	-	-	A	rs33991650|rs112427980|rs535957758|rs11408894	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr14:22573824_22573825insA	ENST00000390453.1	+	0	55									T cell receptor alpha variable 24																		TGACTCTTTTTTAAAAAAACAG	0.45													?|-|A|unsure	1610	0.321486	0.2284	0.3646	5008	,	,		20477	0.4028		0.3171	False		,,,				2504	0.3374					ENST00000390453.1																			0																	859,2725		120,619,1053						4.0	0.0		dbSNP_126	26	2428,5448		380,1668,1890	no	intergenic				500,2287,2943	A1A1,A1R,RR		30.8278,23.9676,28.6824				3287,8173						0							g.chr14:22573824_22573825insA	AE000660		14q11.2	2012-02-07			ENSG00000211805	ENSG00000211805		"""T cell receptors / TRA locus"""	12121	other	T cell receptor gene						12594262, 8188290	Standard	NG_001332		Approved				OTTHUMG00000170652		14.37:g.22573824_22573825insA														0	55	+									RNA	INS	ENST00000390453.1	37																																																																																						0.450	TRAV24-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409900.1	NG_001332		8	80						8	80	---	---	---	---
PYGL	5836	broad.mit.edu	37	14	51375597	51375597	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr14:51375597delA	ENST00000216392.7	-	18	2586	c.2254delT	c.(2254-2256)tctfs	p.S752fs	PYGL_ENST00000544180.2_Frame_Shift_Del_p.S718fs|PYGL_ENST00000532462.1_Frame_Shift_Del_p.S752fs	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	752					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)	p.S752fs*6(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	TGCTTGGGAGAAAAAAAGCCA	0.443																																						ENST00000216392.7																			1	Insertion - Frameshift(1)	p.S752fs*6(1)	skin(1)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(2254-2256)ctfs		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						154.0	158.0	157.0					14																	51375597		2203	4300	6503	SO:0001589	frameshift_variant	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51375597delA		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.2254delT	14.37:g.51375597delA	ENSP00000216392:p.Ser752fs					PYGL_ENST00000544180.2_Frame_Shift_Del_p.S718fs|PYGL_ENST00000532462.1_Frame_Shift_Del_p.S752fs	p.S752fs	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN			18	2586	-	all_epithelial(31;0.00825)|Breast(41;0.148)		752					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Frame_Shift_Del	DEL	ENST00000216392.7	37	c.2254delT	CCDS32080.1																																																																																				0.443	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		7	703						7	703	---	---	---	---
RBM25	58517	broad.mit.edu	37	14	73572607	73572608	+	Frame_Shift_Del	DEL	AG	AG	-	rs150988201		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr14:73572607_73572608delAG	ENST00000261973.7	+	11	1480_1481	c.1195_1196delAG	c.(1195-1197)agafs	p.R399fs	RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	399	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		agagcgggaaagagagagagag	0.446																																						ENST00000261973.7																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(1195-1197)afs		RNA binding motif protein 25																																				SO:0001589	frameshift_variant	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73572607_73572608delAG	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1195_1196delAG	14.37:g.73572617_73572618delAG	ENSP00000261973:p.Arg399fs					RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs	p.R399fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	11	1480_1481	+			399			Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Frame_Shift_Del	DEL	ENST00000261973.7	37	c.1195_1196delAG	CCDS32113.1																																																																																				0.446	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		12	152						12	152	---	---	---	---
CHEK2P2	646096	broad.mit.edu	37	15	20490739	20490739	+	RNA	DEL	G	G	-	rs143465906|rs397973810|rs537853281|rs61277225	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr15:20490739delG	ENST00000555186.1	+	0	568					NR_038836.1				checkpoint kinase 2 pseudogene 2																		GTTACAACCTGtttttttttt	0.423																																						ENST00000555186.1																			0																																																			0							g.chr15:20490739delG			15q11.1	2011-11-11			ENSG00000259156	ENSG00000259156			43578	pseudogene	pseudogene							Standard	NR_038836		Approved		uc001ytf.1		OTTHUMG00000171660		15.37:g.20490739delG								NR_038836.1						0	568	+									RNA	DEL	ENST00000555186.1	37																																																																																						0.423	CHEK2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000414654.1	NR_038836		11	314						11	314	---	---	---	---
ZNF106	64397	broad.mit.edu	37	15	42742957	42742957	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr15:42742957delA	ENST00000263805.4	-	2	1770	c.1444delT	c.(1444-1446)tccfs	p.S482fs	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	482					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TCTCCAGGGGAAAAAAAATTT	0.393																																						ENST00000263805.4																			0											c.(1444-1446)ccfs		zinc finger protein 106							208.0	205.0	206.0					15																	42742957		2203	4299	6502	SO:0001589	frameshift_variant	64397							g.chr15:42742957delA	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.1444delT	15.37:g.42742957delA	ENSP00000263805:p.Ser482fs					ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	p.S482fs	NM_022473.1	NP_071918.1					2	1770	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Frame_Shift_Del	DEL	ENST00000263805.4	37	c.1444delT	CCDS32208.1																																																																																				0.393	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		9	1207						9	1207	---	---	---	---
SNAPC5	10302	broad.mit.edu	37	15	66786799	66786801	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr15:66786799_66786801delTCC	ENST00000316634.5	-	3	351_353	c.270_272delGGA	c.(268-273)gaggaa>gaa	p.90_91EE>E	SNAPC5_ENST00000307979.7_In_Frame_Del_p.60_61EE>E|MIR4512_ENST00000583257.1_RNA|CTD-3185P2.1_ENST00000565387.1_RNA|SNAPC5_ENST00000395589.2_In_Frame_Del_p.90_91EE>E|SNAPC5_ENST00000566658.1_3'UTR|SNAPC5_ENST00000563480.2_In_Frame_Del_p.90_91EE>E			O75971	SNPC5_HUMAN	small nuclear RNA activating complex, polypeptide 5, 19kDa	90	Poly-Glu.				gene expression (GO:0010467)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)	2						ttcttcctcttcctcctcctcct	0.463																																						ENST00000316634.5																			0				breast(1)|large_intestine(1)	2						c.(268-273)gaa>ga		small nuclear RNA activating complex, polypeptide 5, 19kDa																																				SO:0001651	inframe_deletion	10302				transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity	g.chr15:66786799_66786801delTCC	AF093593	CCDS10217.1	15q22	2010-07-08	2002-08-29		ENSG00000174446	ENSG00000174446			15484	protein-coding gene	gene with protein product		605979	"""small nuclear RNA activating complex, polypeptide 5, 19kD"""			9732265	Standard	NM_006049		Approved	SNAP19	uc002apt.1	O75971	OTTHUMG00000133195	ENST00000316634.5:c.270_272delGGA	15.37:g.66786808_66786810delTCC	ENSP00000319597:p.Glu95del					SNAPC5_ENST00000563480.2_In_Frame_Del_p.EE94del|SNAPC5_ENST00000395589.2_In_Frame_Del_p.EE94del|SNAPC5_ENST00000566658.1_3'UTR|SNAPC5_ENST00000307979.7_In_Frame_Del_p.EE64del	p.EE94del			O75971	SNPC5_HUMAN			3	351_353	-			94			Poly-Glu.		A8K7N6|Q96CF3	In_Frame_Del	DEL	ENST00000316634.5	37	c.270_272delGGA	CCDS10217.1																																																																																				0.463	SNAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256905.2			7	578						7	578	---	---	---	---
NPIPA5	100288332	broad.mit.edu	37	16	15457565	15457566	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:15457565_15457566delAC	ENST00000360151.4	-	8	1002_1003	c.1003_1004delGT	c.(1003-1005)gtcfs	p.V335fs		NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	335	Pro-rich.																GAGTGAGCAGACACACTCGGGA	0.446																																						ENST00000360151.4																			0											c.(1003-1005)cfs		nuclear pore complex interacting protein family, member A5																																				SO:0001589	frameshift_variant	100288332							g.chr16:15457565_15457566delAC		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.1003_1004delGT	16.37:g.15457569_15457570delAC	ENSP00000433597:p.Val335fs						p.V335fs	NM_001277325.1	NP_001264254.1					8	1002_1003	-								Q0P618	Frame_Shift_Del	DEL	ENST00000360151.4	37	c.1003_1004delGT	CCDS59264.1																																																																																				0.446	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389069.1			10	409						10	409	---	---	---	---
COQ9	57017	broad.mit.edu	37	16	57486732	57486734	+	In_Frame_Del	DEL	GAG	GAG	-	rs149029279		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:57486732_57486734delGAG	ENST00000262507.6	+	3	331_333	c.262_264delGAG	c.(262-264)gagdel	p.E91del	COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567933.1_In_Frame_Del_p.E91del|COQ9_ENST00000567072.1_In_Frame_Del_p.E91del	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	91					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CCAGGGCGGCGAGGAGGAGGAGG	0.576																																						ENST00000262507.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						c.(262-264)del		coenzyme Q9																																				SO:0001651	inframe_deletion	57017				ubiquinone biosynthetic process	mitochondrion		g.chr16:57486732_57486734delGAG	BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"""chromosome 16 open reading frame 49"", ""coenzyme Q9 homolog (yeast)"", ""coenzyme Q9 homolog (S. cerevisiae)"""	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.262_264delGAG	16.37:g.57486741_57486743delGAG	ENSP00000262507:p.Glu91del					COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567933.1_In_Frame_Del_p.E91del|COQ9_ENST00000567072.1_In_Frame_Del_p.E91del	p.E91del	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN			3	331_333	+			91					A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	In_Frame_Del	DEL	ENST00000262507.6	37	c.262_264delGAG	CCDS32459.1																																																																																				0.576	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432598.3	NM_020312		8	686						8	686	---	---	---	---
NFAT5	10725	broad.mit.edu	37	16	69726420	69726422	+	In_Frame_Del	DEL	CAG	CAG	-	rs369235958		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:69726420_69726422delCAG	ENST00000354436.2	+	12	2956_2958	c.2638_2640delCAG	c.(2638-2640)cagdel	p.Q888del	NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000349945.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	888	Poly-Gln.				cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q804Q(1)|p.Q898Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATCTAATcaacagcagcagcagc	0.473																																						ENST00000349945.1																			2	Substitution - coding silent(2)	p.Q804Q(1)|p.Q898Q(1)	endometrium(2)	NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2410-2412)del		nuclear factor of activated T-cells 5, tonicity-responsive																																				SO:0001651	inframe_deletion	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69726420_69726422delCAG	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2638_2640delCAG	16.37:g.69726429_69726431delCAG	ENSP00000346420:p.Gln888del					NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del	p.Q812del	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	3962_3964	+			888					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	In_Frame_Del	DEL	ENST00000354436.2	37	c.2410_2412delCAG	CCDS10881.1																																																																																				0.473	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		12	316						12	316	---	---	---	---
ADAMTS18	170692	broad.mit.edu	37	16	77356311	77356311	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:77356311delA	ENST00000282849.5	-	14	2503	c.2085delT	c.(2083-2085)tttfs	p.F695fs		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	695	Cys-rich.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A696fs*18(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CGGACATTGCAAAAAAAAATT	0.403																																						ENST00000282849.5																			2	Insertion - Frameshift(2)	p.A696fs*18(2)	large_intestine(2)	NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(2083-2085)ttfs		ADAM metallopeptidase with thrombospondin type 1 motif, 18							145.0	143.0	143.0					16																	77356311		2198	4300	6498	SO:0001589	frameshift_variant	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77356311delA	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2085delT	16.37:g.77356311delA	ENSP00000282849:p.Phe695fs						p.F695fs	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			14	2503	-			695			Cys-rich.		Q6P4R5|Q6ZWJ9	Frame_Shift_Del	DEL	ENST00000282849.5	37	c.2085delT	CCDS10926.1																																																																																				0.403	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			8	469						8	469	---	---	---	---
C17orf85	55421	broad.mit.edu	37	17	3721809	3721811	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:3721809_3721811delTCC	ENST00000389005.4	-	10	1083_1085	c.1056_1058delGGA	c.(1054-1059)gaggaa>gaa	p.352_353EE>E	C17orf85_ENST00000158149.3_In_Frame_Del_p.72_73EE>E	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	352	Glu-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ctcttcctcttcctcctcctcct	0.507																																						ENST00000158149.3																			0				endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10						c.(214-219)gaa>ga		chromosome 17 open reading frame 85																																				SO:0001651	inframe_deletion	55421						nucleotide binding	g.chr17:3721809_3721811delTCC		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"""ELG protein"""					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1056_1058delGGA	17.37:g.3721818_3721820delTCC	ENSP00000373657:p.Glu359del					C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del	p.EE78del			Q53F19	CQ085_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)	11	1111_1113	-			358					B3KWG7|Q7L406|Q96FK1|Q9NXZ4	In_Frame_Del	DEL	ENST00000389005.4	37	c.216_218delGGA	CCDS45578.1																																																																																				0.507	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	NM_018553		8	559						8	559	---	---	---	---
NLRP1	22861	broad.mit.edu	37	17	5461960	5461961	+	Frame_Shift_Del	DEL	TC	TC	-	rs61753138	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:5461960_5461961delTC	ENST00000572272.1	-	4	2054_2055	c.2055_2056delGA	c.(2053-2058)gagatgfs	p.EM685fs	NLRP1_ENST00000577119.1_Frame_Shift_Del_p.EM685fs|NLRP1_ENST00000262467.5_Frame_Shift_Del_p.EM685fs|NLRP1_ENST00000354411.3_Frame_Shift_Del_p.EM685fs|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Frame_Shift_Del_p.EM685fs|NLRP1_ENST00000345221.3_Frame_Shift_Del_p.EM685fs			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	685					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				ATGTTCTCCATCTCTCTCTCCC	0.54																																						ENST00000345221.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(2053-2058)gatgfs		NLR family, pyrin domain containing 1																																				SO:0001589	frameshift_variant	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5461960_5461961delTC	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.2055_2056delGA	17.37:g.5461968_5461969delTC	ENSP00000460475:p.Glu685fs					NLRP1_ENST00000269280.4_Frame_Shift_Del_p.EM685fs|NLRP1_ENST00000572272.1_Frame_Shift_Del_p.EM685fs|NLRP1_ENST00000354411.3_Frame_Shift_Del_p.EM685fs|NLRP1_ENST00000262467.5_Frame_Shift_Del_p.EM685fs|NLRP1_ENST00000577119.1_Frame_Shift_Del_p.EM685fs|NLRP1_ENST00000571307.1_5'UTR	p.EM685fs	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN			4	2609_2610	-		Colorectal(1115;3.48e-05)	685					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Frame_Shift_Del	DEL	ENST00000572272.1	37	c.2055_2056delGA	CCDS42246.1																																																																																				0.540	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		7	677						7	677	---	---	---	---
TMEM97	27346	broad.mit.edu	37	17	26653806	26653807	+	Frame_Shift_Ins	INS	-	-	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:26653806_26653807insA	ENST00000226230.6	+	3	663_664	c.518_519insA	c.(517-522)agaaaafs	p.RK173fs	TMEM97_ENST00000583381.1_Frame_Shift_Ins_p.RK66fs|TMEM97_ENST00000336687.6_Frame_Shift_Ins_p.RK66fs	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	173					cholesterol homeostasis (GO:0042632)|regulation of cell growth (GO:0001558)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)		p.K176fs?(1)		endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GAAGAGAAAAGAAAAAAAAAAT	0.441																																						ENST00000226230.6																			1	Deletion - Frameshift(1)	p.K176fs?(1)	lung(1)	endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(517-519)aaafs		transmembrane protein 97																																				SO:0001589	frameshift_variant	27346				cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding	g.chr17:26653806_26653807insA	BC091504	CCDS11226.2	17q11.2	2014-01-28			ENSG00000109084	ENSG00000109084			28106	protein-coding gene	gene with protein product		612912				7694637, 15375745	Standard	NM_014573		Approved	MAC30	uc002hat.3	Q5BJF2	OTTHUMG00000132497	ENST00000226230.6:c.528dupA	17.37:g.26653816_26653816dupA	ENSP00000226230:p.Arg173fs					TMEM97_ENST00000336687.6_Frame_Shift_Ins_p.K66fs|TMEM97_ENST00000583381.1_Frame_Shift_Ins_p.K66fs	p.K173fs	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	3	663_664	+	all_lung(13;0.000238)|Lung NSC(42;0.000789)		173					B4DS02|Q07823	Frame_Shift_Ins	INS	ENST00000226230.6	37	c.518_519insA	CCDS11226.2																																																																																				0.441	TMEM97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255675.2	NM_014573		8	289						8	289	---	---	---	---
NUFIP2	57532	broad.mit.edu	37	17	27620990	27620992	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:27620990_27620992delGCT	ENST00000225388.4	-	1	144_146	c.86_88delAGC	c.(85-90)cagccg>ccg	p.Q29del	NUFIP2_ENST00000579665.1_In_Frame_Del_p.Q29del	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	29	His-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			tggtggtgcggctgctgctgctg	0.591																																						ENST00000225388.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(85-90)ccg>c		nuclear fragile X mental retardation protein interacting protein 2																																				SO:0001651	inframe_deletion	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27620990_27620992delGCT	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.86_88delAGC	17.37:g.27620999_27621001delGCT	ENSP00000225388:p.Gln29del					NUFIP2_ENST00000579665.1_In_Frame_Del_p.QP29del	p.QP29del	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		1	144_146	-			29			His-rich.		A1L3A6|Q9P2M5	In_Frame_Del	DEL	ENST00000225388.4	37	c.86_88delAGC	CCDS32600.1																																																																																				0.591	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		7	461						7	461	---	---	---	---
SLFN12	55106	broad.mit.edu	37	17	33749493	33749493	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:33749493delA	ENST00000394562.1	-	4	1078	c.555delT	c.(553-555)tttfs	p.F185fs	SLFN12_ENST00000460530.1_5'Flank|SLFN12_ENST00000452764.3_Frame_Shift_Del_p.F185fs|SLFN12_ENST00000304905.5_Frame_Shift_Del_p.F185fs			Q8IYM2	SLN12_HUMAN	schlafen family member 12	185							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGTTCTATCAAAAAAAACCC	0.368																																						ENST00000394562.1																			0				breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(553-555)ttfs		schlafen family member 12							55.0	59.0	58.0					17																	33749493		2183	4295	6478	SO:0001589	frameshift_variant	55106						ATP binding	g.chr17:33749493delA	AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.555delT	17.37:g.33749493delA	ENSP00000378063:p.Phe185fs					SLFN12_ENST00000304905.5_Frame_Shift_Del_p.F185fs|SLFN12_ENST00000452764.3_Frame_Shift_Del_p.F185fs	p.F185fs			Q8IYM2	SLN12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	1078	-		Ovarian(249;0.17)	185					A8K711|Q9NP47	Frame_Shift_Del	DEL	ENST00000394562.1	37	c.555delT	CCDS11295.1																																																																																				0.368	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042		7	480						7	480	---	---	---	---
KRT10	3858	broad.mit.edu	37	17	38978766	38978768	+	In_Frame_Del	DEL	TCC	TCC	-	rs148510452|rs556262610	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:38978766_38978768delTCC	ENST00000269576.5	-	1	79_81	c.70_72delGGA	c.(70-72)ggadel	p.G24del	TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	24	Gly-rich.|Head.			Missing (in Ref. 1; AAA60544). {ECO:0000305}.	cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				ctcctccacatcctcctcctcct	0.547																																						ENST00000269576.5																			0				NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11						c.(70-72)del		keratin 10			,,,	689,7,3556		198,0,293,0,7,1628					,,,	3.0	0.1		dbSNP_134	51	1494,8,6750		368,0,758,0,8,2992	no	intron,intron,intron,codingComplex	KRT10,TMEM99	NM_145274.3,NM_001195387.1,NM_001195386.1,NM_000421.3	,,,	566,0,1051,0,15,4620	A1A1,A1A2,A1R,A2A2,A2R,RR		18.2016,16.3688,17.5784	,,,	,,,		2183,15,10306				SO:0001651	inframe_deletion	3858				epidermis development		protein binding|structural constituent of epidermis	g.chr17:38978766_38978768delTCC	J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6413	protein-coding gene	gene with protein product	"""cytokeratin 10"", ""epidermolytic hyperkeratosis"""	148080	"""keratosis palmaris et plantaris"""	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.70_72delGGA	17.37:g.38978775_38978777delTCC	ENSP00000269576:p.Gly24del					TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	p.G24del	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN			1	79_81	-		Breast(137;0.000301)	24	Missing (in Ref. 1; AAA60544).		Gly-rich.|Head.		Q14664|Q8N175	In_Frame_Del	DEL	ENST00000269576.5	37	c.70_72delGGA	CCDS11377.1																																																																																				0.547	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257875.1	NM_000421		24	239						24	239	---	---	---	---
KRTAP9-1	728318	broad.mit.edu	37	17	39346425	39346427	+	In_Frame_Del	DEL	GTG	GTG	-	rs376633756		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:39346425_39346427delGTG	ENST00000398470.1	+	1	287_289	c.287_289delGTG	c.(286-291)tgtggc>tgc	p.G97del	KRTAP9-1_ENST00000377723.3_Intron|KRTAP9-1_ENST00000318329.5_Splice_Site_p.46_47CG>W	NM_001190460.1	NP_001177389.1	A8MXZ3	KRA91_HUMAN	keratin associated protein 9-1	97	30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI].					keratin filament (GO:0045095)				breast(1)|lung(3)	4						TCCAGCTGCTGTGGCCAAACCAG	0.606																																						ENST00000398470.1																			0				breast(1)|lung(3)	4						c.(286-291)tgc>t		keratin associated protein 9-1																																				SO:0001651	inframe_deletion	0					keratin filament		g.chr17:39346425_39346427delGTG	AC006070	CCDS56029.1	17q21.2	2010-06-03			ENSG00000240542	ENSG00000240542		"""Keratin associated proteins"""	18912	protein-coding gene	gene with protein product			"""keratin associated protein 9-like 3"""	KRTAP9L3			Standard	NM_001190460		Approved	KAP9.1	uc021txf.1	A8MXZ3	OTTHUMG00000133636	ENST00000398470.1:c.287_289delGTG	17.37:g.39346425_39346427delGTG	ENSP00000381488:p.Gly97del					KRTAP9-1_ENST00000377723.3_Intron|KRTAP9-1_ENST00000318329.5_Splice_Site_p.CG46_splice	p.CG96del	NM_001190460.1	NP_001177389.1	A8MXZ3	KRA91_HUMAN			1	287_289	+			96			30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI].			In_Frame_Del	DEL	ENST00000398470.1	37	c.287_289delGTG	CCDS56029.1																																																																																				0.606	KRTAP9-1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257781.1			8	119						8	119	---	---	---	---
HCRT	3060	broad.mit.edu	37	17	40336501	40336503	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:40336501_40336503delGCA	ENST00000293330.1	-	2	151_153	c.65_67delTGC	c.(64-69)ctgccg>ccg	p.L22del		NM_001524.1	NP_001515.1	O43612	OREX_HUMAN	hypocretin (orexin) neuropeptide precursor	22					eating behavior (GO:0042755)|negative regulation of DNA replication (GO:0008156)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of transmission of nerve impulse (GO:0051970)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transmission of nerve impulse (GO:0051971)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)		p.L22delL(1)		breast(1)|central_nervous_system(1)	2		all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069)		BRCA - Breast invasive adenocarcinoma(366;0.124)		AGCGCGGgcggcagcagcagcag	0.704																																						ENST00000293330.1																			1	Deletion - In frame(1)	p.L22delL(1)	central_nervous_system(1)	breast(1)|central_nervous_system(1)	2						c.(64-69)ccg>c		hypocretin (orexin) neuropeptide precursor																																				SO:0001651	inframe_deletion	3060				neuropeptide signaling pathway	cell junction|extracellular region|rough endoplasmic reticulum|synaptic vesicle		g.chr17:40336501_40336503delGCA	AF041240	CCDS11421.1	17q21	2013-02-28				ENSG00000161610		"""Endogenous ligands"""	4847	protein-coding gene	gene with protein product	"""prepro-orexin"""	602358				9419374, 9491897	Standard	NM_001524		Approved	PPOX, OX	uc002hzc.1	O43612		ENST00000293330.1:c.65_67delTGC	17.37:g.40336510_40336512delGCA	ENSP00000293330:p.Leu22del						p.LP22del	NM_001524.1	NP_001515.1	O43612	OREX_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.124)	2	151_153	-		all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069)	22						In_Frame_Del	DEL	ENST00000293330.1	37	c.65_67delTGC	CCDS11421.1																																																																																				0.704	HCRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449792.1	NM_001524		7	83						7	83	---	---	---	---
CCDC43	124808	broad.mit.edu	37	17	42756252	42756253	+	Frame_Shift_Ins	INS	-	-	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:42756252_42756253insT	ENST00000315286.8	-	5	654_655	c.646_647insA	c.(646-648)aggfs	p.R216fs	CCDC43_ENST00000457422.2_3'UTR|C17orf104_ENST00000588805.1_Intron|RP11-1072C15.4_ENST00000591628.1_RNA|CCDC43_ENST00000588210.1_Frame_Shift_Ins_p.R219fs	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43	216										lung(2)	2		Prostate(33;0.0322)				TCTCTGTGTCCTTTTTTTTTCC	0.465																																						ENST00000315286.8																			0				lung(2)	2						c.(646-648)gacfs		coiled-coil domain containing 43																																				SO:0001589	frameshift_variant	124808							g.chr17:42756252_42756253insT	AK056357	CCDS45704.1, CCDS45705.1	17q21.31	2005-12-16							26472	protein-coding gene	gene with protein product						12477932	Standard	NM_001099225		Approved	FLJ31795	uc002ihc.2	Q96MW1		ENST00000315286.8:c.647dupA	17.37:g.42756261_42756261dupT	ENSP00000323782:p.Arg216fs					C17orf104_ENST00000588805.1_Intron|CCDC43_ENST00000588210.1_Frame_Shift_Ins_p.D219fs|CCDC43_ENST00000457422.2_3'UTR	p.D216fs	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN			5	654_655	-		Prostate(33;0.0322)	216					C9JVK9	Frame_Shift_Ins	INS	ENST00000315286.8	37	c.646_647insA	CCDS45704.1																																																																																				0.465	CCDC43-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457812.1	NM_144609		7	162						7	162	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45247389	45247389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:45247389delT	ENST00000066544.3	-	4	364	c.271delA	c.(271-273)atcfs	p.I91fs	RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	91					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)	p.I91fs*54(1)		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						CCAGATAAGATTTGTTCCCCT	0.323																																						ENST00000066544.3																			1	Deletion - Frameshift(1)	p.I91fs*54(1)	ovary(1)	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.(271-273)tcfs		cell division cycle 27							84.0	94.0	91.0					17																	45247389		2203	4299	6502	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.chr17:45247389delT	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.271delA	17.37:g.45247389delT	ENSP00000066544:p.Ile91fs					CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000528748.1_5'UTR|RP5-867C24.5_ENST00000572193.1_RNA	p.I91fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			4	364	-			91					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.271delA	CCDS11509.1																																																																																				0.323	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			12	685						12	685	---	---	---	---
RNF43	54894	broad.mit.edu	37	17	56435160	56435161	+	Frame_Shift_Ins	INS	-	-	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:56435160_56435161insC	ENST00000584437.1	-	8	3931_3932	c.1976_1977insG	c.(1975-1977)ggtfs	p.G659fs	RNF43_ENST00000407977.2_Frame_Shift_Ins_p.G659fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Frame_Shift_Ins_p.G532fs|RNF43_ENST00000577716.1_Frame_Shift_Ins_p.G659fs|RNF43_ENST00000583753.1_Frame_Shift_Ins_p.G618fs|RNF43_ENST00000500597.2_Frame_Shift_Ins_p.G618fs|RNF43_ENST00000577625.1_Frame_Shift_Ins_p.G532fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	659	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCCT	0.599																																						ENST00000584437.1																			1	Deletion - Frameshift(1)	p.G659fs*41(1)	large_intestine(1)	NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(1975-1977)gccfs		ring finger protein 43																																				SO:0001589	frameshift_variant	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56435160_56435161insC		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1977dupG	17.37:g.56435167_56435167dupC	ENSP00000463069:p.Gly659fs					RNF43_ENST00000583753.1_Frame_Shift_Ins_p.A618fs|RNF43_ENST00000577716.1_Frame_Shift_Ins_p.A659fs|RNF43_ENST00000581868.1_Frame_Shift_Ins_p.A532fs|RNF43_ENST00000577625.1_Frame_Shift_Ins_p.A532fs|RNF43_ENST00000407977.2_Frame_Shift_Ins_p.A659fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000500597.2_Frame_Shift_Ins_p.A618fs	p.A659fs			Q68DV7	RNF43_HUMAN			8	3931_3932	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		659			Pro-rich.		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Frame_Shift_Ins	INS	ENST00000584437.1	37	c.1976_1977insG	CCDS11607.1																																																																																				0.599	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		8	976						8	976	---	---	---	---
TEX2	55852	broad.mit.edu	37	17	62291438	62291440	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:62291438_62291440delTCC	ENST00000583097.1	-	2	310_312	c.138_140delGGA	c.(136-141)gaggaa>gaa	p.46_47EE>E	TEX2_ENST00000584379.1_In_Frame_Del_p.46_47EE>E|TEX2_ENST00000258991.3_In_Frame_Del_p.46_47EE>E			Q8IWB9	TEX2_HUMAN	testis expressed 2	46	Poly-Glu.				signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		ctcctcctcttcctcctcctcct	0.552																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(136-141)gaa>ga		testis expressed 2																																				SO:0001651	inframe_deletion	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62291438_62291440delTCC	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.138_140delGGA	17.37:g.62291447_62291449delTCC	ENSP00000462665:p.Glu51del					TEX2_ENST00000584379.1_In_Frame_Del_p.EE50del|TEX2_ENST00000583097.1_In_Frame_Del_p.EE50del	p.EE50del			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	2	222_224	-			50			Poly-Glu.		Q6AHZ5|Q8N3L0|Q9C0C5	In_Frame_Del	DEL	ENST00000583097.1	37	c.138_140delGGA																																																																																					0.552	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		7	532						7	532	---	---	---	---
SLC26A11	284129	broad.mit.edu	37	17	78201649	78201651	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:78201649_78201651delTGC	ENST00000361193.3	+	7	906_908	c.626_628delTGC	c.(625-630)atgctg>atg	p.L213del	SLC26A11_ENST00000411502.3_In_Frame_Del_p.L213del|SLC26A11_ENST00000572725.1_In_Frame_Del_p.L213del|SLC26A11_ENST00000546047.2_In_Frame_Del_p.L213del	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11											central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGGTCTGCATGCTGCTGCTGCT	0.675																																						ENST00000361193.3																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28						c.(625-630)atg>a		solute carrier family 26 (anion exchanger), member 11																																				SO:0001651	inframe_deletion	284129					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	g.chr17:78201649_78201651delTGC		CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"""Solute carriers"""	14471	protein-coding gene	gene with protein product		610117	"""solute carrier family 26, member 11"""				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.626_628delTGC	17.37:g.78201658_78201660delTGC	ENSP00000355384:p.Leu213del					SLC26A11_ENST00000411502.3_In_Frame_Del_p.ML209del|SLC26A11_ENST00000572725.1_In_Frame_Del_p.ML209del|SLC26A11_ENST00000546047.2_In_Frame_Del_p.ML209del	p.ML209del	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		7	906_908	+	all_neural(118;0.0538)		209						In_Frame_Del	DEL	ENST00000361193.3	37	c.626_628delTGC	CCDS11771.2																																																																																				0.675	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1			7	705						7	705	---	---	---	---
SEH1L	81929	broad.mit.edu	37	18	12986927	12986929	+	3'UTR	DEL	TCC	TCC	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr18:12986927_12986929delTCC	ENST00000262124.11	+	0	2886_2888				SEH1L_ENST00000399892.2_In_Frame_Del_p.P385del|RP11-773H22.4_ENST00000588211.1_RNA	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)						attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522																																						ENST00000399892.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(1135-1140)ctt>ct		SEH1-like (S. cerevisiae)																																				SO:0001624	3_prime_UTR_variant	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12986927_12986929delTCC	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"""WD repeat domain containing"""	30379	protein-coding gene	gene with protein product	"""sec13 like protein"", ""nucleoporin Seh1"""	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.*1678TCC>-	18.37:g.12986936_12986938delTCC						RP11-773H22.4_ENST00000588211.1_RNA|SEH1L_ENST00000262124.11_3'UTR	p.LP379del	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN			9	1238_1240	+			0					A8K5B1|Q8NFU6|Q96MH3|Q9C069	In_Frame_Del	DEL	ENST00000262124.11	37	c.1137_1139delTCC	CCDS45832.1																																																																																				0.522	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		9	280						9	280	---	---	---	---
KCNG2	26251	broad.mit.edu	37	18	77623691	77623692	+	In_Frame_Ins	INS	-	-	GGC	rs71338073	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr18:77623691_77623692insGGC	ENST00000316249.3	+	1	24_25	c.24_25insGGC	c.(25-27)ggc>GGCggc	p.9_9G>GG		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	9	Poly-Gly.				energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.P8_G9insG(2)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCTGCTccccgggcggcggcgg	0.772														1448	0.289137	0.0772	0.3199	5008	,	,		6733	0.3968		0.4165	False		,,,				2504	0.3119					ENST00000316249.3																			2	Insertion - In frame(2)	p.P8_G9insG(2)	upper_aerodigestive_tract(2)	breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(22-27)ccgcgg>ccGGCgcgg		potassium voltage-gated channel, subfamily G, member 2																																				SO:0001652	inframe_insertion	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77623691_77623692insGGC	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.34_36dupGGC	18.37:g.77623698_77623700dupGGC	ENSP00000315654:p.Gly13dup						p.8_9PR>PAR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	1	24_25	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	8						In_Frame_Ins	INS	ENST00000316249.3	37	c.24_25insGGC	CCDS12019.1																																																																																				0.772	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		9	18						9	18	---	---	---	---
RNF126	55658	broad.mit.edu	37	19	648262	648263	+	Frame_Shift_Ins	INS	-	-	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:648262_648263insG	ENST00000292363.5	-	9	956_957	c.801_802insC	c.(799-804)cccgtcfs	p.V268fs		NM_194460.2	NP_919442.1			ring finger protein 126											lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|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)		TTTCGGCAGACGGGGCAGCTGT	0.693																																						ENST00000292363.5																			0				lung(1)	1						c.(799-804)cctctgfs		ring finger protein 126																																				SO:0001589	frameshift_variant	55658						protein binding|zinc ion binding	g.chr19:648262_648263insG	BC025374	CCDS12039.1	19p13.3	2013-01-09				ENSG00000070423		"""RING-type (C3HC4) zinc fingers"""	21151	protein-coding gene	gene with protein product		615177					Standard	NM_194460		Approved	FLJ20552	uc010drs.3	Q9BV68		ENST00000292363.5:c.802dupC	19.37:g.648266_648266dupG	ENSP00000292363:p.Val268fs						p.L268fs	NM_194460.2	NP_919442.1	Q9BV68	RN126_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)	9	956_957	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	268						Frame_Shift_Ins	INS	ENST00000292363.5	37	c.801_802insC	CCDS12039.1																																																																																				0.693	RNF126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452104.2	NM_017876		8	32						8	32	---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10262139	10262139	+	Frame_Shift_Del	DEL	T	T	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:10262139delT	ENST00000340748.4	-	23	2387	c.2152delA	c.(2152-2154)atgfs	p.M718fs	DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs|DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	718	Autoinhibitory linker.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CCCTGGTGCATTTTTTTGGGT	0.507																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(2152-2154)tgfs		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						266.0	220.0	236.0					19																	10262139		2203	4300	6503	SO:0001589	frameshift_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10262139delT	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2152delA	19.37:g.10262139delT	ENSP00000345739:p.Met718fs					DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs|DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs	p.M718fs			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		23	2387	-			718					A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Frame_Shift_Del	DEL	ENST00000340748.4	37	c.2152delA	CCDS12228.1																																																																																				0.507	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		8	941						8	941	---	---	---	---
CTC-260E6.6	0	broad.mit.edu	37	19	20359846	20359847	+	RNA	DEL	GT	GT	-	rs142545494|rs549678051		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:20359846_20359847delGT	ENST00000593655.1	-	0	199																											TTAAGTAAAGGTGTGTGTGTGT	0.421																																						ENST00000593655.1																			0																																																			0							g.chr19:20359846_20359847delGT																													19.37:g.20359856_20359857delGT														0	199	-									RNA	DEL	ENST00000593655.1	37																																																																																						0.421	CTC-260E6.6-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462901.1			9	356						9	356	---	---	---	---
LIPE-AS1	100996307	broad.mit.edu	37	19	43136362	43136363	+	RNA	DEL	TG	TG	-	rs142080128		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:43136362_43136363delTG	ENST00000594688.1	+	0	1450				LIPE-AS1_ENST00000594624.2_RNA	NR_073179.1				LIPE antisense RNA 1																		TGAGTATGTATGTGTGTGTGTG	0.505																																						ENST00000594688.1																			0																																																			0							g.chr19:43136362_43136363delTG	AK096849, BM974950		19q13.2	2013-05-21			ENSG00000213904	ENSG00000213904		"""Long non-coding RNAs"""	48589	non-coding RNA	RNA, long non-coding							Standard	NR_073179		Approved				OTTHUMG00000182815		19.37:g.43136372_43136373delTG						LIPE-AS1_ENST00000594624.2_RNA		NR_073179.1						0	1450	+									RNA	DEL	ENST00000594688.1	37																																																																																						0.505	LIPE-AS1-004	KNOWN	basic	antisense	antisense	OTTHUMT00000464099.1	NR_073179		10	105						10	105	---	---	---	---
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:45911859_45911861delGAA	ENST00000309424.3	+	3	1121_1123	c.633_635delGAA	c.(631-636)cggaag>cgg	p.K217del	ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.K219del|ERCC1_ENST00000423698.2_3'UTR|PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000588738.1_5'Flank	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	217	Poly-Lys.				rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581																																						ENST00000309424.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						c.(631-636)cgg>cg		CD3e molecule, epsilon associated protein			,,	0,144,4118		0,0,0,13,118,2000					,,	-5.6	0.0			66	5,183,8058		0,0,5,3,177,3938	no	codingComplex,utr-3,utr-3	ERCC1,CD3EAP	NM_012099.1,NM_001983.3,NM_001166049.1	,,	0,0,5,16,295,5938	A1A1,A1A2,A1R,A2A2,A2R,RR		2.2799,3.3787,2.6543	,,	,,		5,327,12176				SO:0001651	inframe_deletion	10849				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	g.chr19:45911859_45911861delGAA	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.633_635delGAA	19.37:g.45911868_45911870delGAA	ENSP00000310966:p.Lys217del					ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del|ERCC1_ENST00000300853.3_3'UTR	p.RK211del	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	3	1121_1123	+		all_neural(266;0.224)|Ovarian(192;0.231)	211					Q32N11|Q7Z5U2|Q9UPF6	In_Frame_Del	DEL	ENST00000309424.3	37	c.633_635delGAA	CCDS12661.1																																																																																				0.581	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099		12	701						12	701	---	---	---	---
LILRB1	10859	broad.mit.edu	37	19	55146148	55146150	+	In_Frame_Del	DEL	CTC	CTC	-	rs543059448	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:55146148_55146150delCTC	ENST00000396331.1	+	11	1774_1776	c.1417_1419delCTC	c.(1417-1419)ctcdel	p.L479del	LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	479					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAtcctactgctcctcctcctcc	0.581										HNSCC(37;0.09)				8	0.00159744	0.0023	0.0014	5008	,	,		18237	0.002		0.001	False		,,,				2504	0.001					ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1417-1419)del		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1			,,,	21,4241		0,21,2110					,,,	0.7	0.0			137	49,8205		0,49,4078	no	coding,coding,coding,coding	LILRB1	NM_006669.3,NM_001081639.1,NM_001081638.1,NM_001081637.1	,,,	0,70,6188	A1A1,A1R,RR		0.5937,0.4927,0.5593	,,,	,,,		70,12446				SO:0001651	inframe_deletion	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55146148_55146150delCTC	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1417_1419delCTC	19.37:g.55146157_55146159delCTC	ENSP00000379622:p.Leu479del	HNSCC(37;0.09)				LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del	p.L479del	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	11	1774_1776	+			479					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	In_Frame_Del	DEL	ENST00000396331.1	37	c.1417_1419delCTC	CCDS42617.1																																																																																				0.581	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			10	386						10	386	---	---	---	---
SLC23A2	9962	broad.mit.edu	37	20	4850569	4850569	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr20:4850569delG	ENST00000379333.1	-	12	1625	c.1233delC	c.(1231-1233)cccfs	p.P411fs	SNORA31_ENST00000516287.1_RNA|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_Frame_Shift_Del_p.P411fs|SLC23A2_ENST00000424750.2_Frame_Shift_Del_p.P297fs	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	411					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.I412fs*4(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTGCGTGGATGGGGGGGGGTG	0.527																																						ENST00000379333.1																			1	Deletion - Frameshift(1)	p.I412fs*4(1)	ovary(1)	endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1231-1233)ccfs		solute carrier family 23 (ascorbic acid transporter), member 2							65.0	70.0	68.0					20																	4850569		2203	4300	6503	SO:0001589	frameshift_variant	9962				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	g.chr20:4850569delG	AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1233delC	20.37:g.4850569delG	ENSP00000368637:p.Pro411fs					SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_Frame_Shift_Del_p.P411fs|SLC23A2_ENST00000424750.2_Frame_Shift_Del_p.P297fs	p.P411fs	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN			12	1625	-			411					B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Frame_Shift_Del	DEL	ENST00000379333.1	37	c.1233delC	CCDS13085.1																																																																																				0.527	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			25	473						25	473	---	---	---	---
MIR99AHG	388815	broad.mit.edu	37	21	17443416	17443417	+	lincRNA	DEL	TG	TG	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr21:17443416_17443417delTG	ENST00000458468.1	+	0	27					NR_027790.1																						TTTTTCTTTTTGTGTGTGTGTG	0.431																																						ENST00000458468.1																			0																																																			0							g.chr21:17443416_17443417delTG																													21.37:g.17443426_17443427delTG								NR_027790.1						0	27	+									RNA	DEL	ENST00000458468.1	37																																																																																						0.431	LINC00478-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000158029.1			10	747						10	747	---	---	---	---
PTTG1IP	754	broad.mit.edu	37	21	46276194	46276196	+	In_Frame_Del	DEL	GCA	GCA	-	rs375347383		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr21:46276194_46276196delGCA	ENST00000330938.3	-	4	581_583	c.361_363delTGC	c.(361-363)tgcdel	p.C121del	PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del|PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000494690.1_5'UTR	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	121	Poly-Cys.				multicellular organismal development (GO:0007275)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)			ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		TCTTCCTCCTGCAGCAGCAGCAG	0.616																																						ENST00000330938.3																			0				ovary(1)|prostate(1)	2						c.(361-363)del		pituitary tumor-transforming 1 interacting protein																																				SO:0001651	inframe_deletion	754				protein import into nucleus	cytoplasm|integral to membrane|nucleus		g.chr21:46276194_46276196delGCA	AF149785	CCDS13715.1, CCDS68221.1	21q22.3	2008-07-04			ENSG00000183255	ENSG00000183255			13524	protein-coding gene	gene with protein product		603784		C21orf3, C21orf1		9570958, 10830953	Standard	NM_004339		Approved	PBF	uc002zgb.2	P53801	OTTHUMG00000090254	ENST00000330938.3:c.361_363delTGC	21.37:g.46276203_46276205delGCA	ENSP00000328325:p.Cys121del					PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del|PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397887.3_Intron	p.C121del	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN		Colorectal(79;0.0659)	4	581_583	-			121			Poly-Cys.		B2RDP7|D3DSL9|Q9NS09	In_Frame_Del	DEL	ENST00000330938.3	37	c.361_363delTGC	CCDS13715.1																																																																																				0.616	PTTG1IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206553.1			7	426						7	426	---	---	---	---
MED15	51586	broad.mit.edu	37	22	20920814	20920816	+	In_Frame_Del	DEL	CAG	CAG	-	rs67182670|rs535773989	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:20920814_20920816delCAG	ENST00000263205.7	+	7	820_822	c.751_753delCAG	c.(751-753)cagdel	p.Q262del	MED15_ENST00000541476.1_In_Frame_Del_p.Q236del|MED15_ENST00000425759.2_In_Frame_Del_p.Q151del|MED15_ENST00000382974.2_In_Frame_Del_p.Q191del|MED15_ENST00000406969.1_In_Frame_Del_p.Q236del|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000292733.7_In_Frame_Del_p.Q262del|MED15_ENST00000542773.1_In_Frame_Del_p.Q67del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	262	Poly-Gln.		Missing.	Missing (in Ref. 3; BAB85034). {ECO:0000305}.	gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q250_Q251insQ(4)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			acaacagcaacagcagcagcagc	0.591																																						ENST00000263205.7																			4	Insertion - In frame(4)	p.Q250_Q251insQ(4)	ovary(2)|large_intestine(2)	central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(751-753)del		mediator complex subunit 15																																				SO:0001651	inframe_deletion	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20920814_20920816delCAG	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.751_753delCAG	22.37:g.20920823_20920825delCAG	ENSP00000263205:p.Gln262del					MED15_ENST00000478831.1_3'UTR|MED15_ENST00000406969.1_In_Frame_Del_p.Q236del|MED15_ENST00000382974.2_In_Frame_Del_p.Q191del|MED15_ENST00000542773.1_In_Frame_Del_p.Q67del|MED15_ENST00000425759.2_In_Frame_Del_p.Q151del|MED15_ENST00000292733.7_In_Frame_Del_p.Q262del|MED15_ENST00000541476.1_In_Frame_Del_p.Q236del	p.Q262del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		7	820_822	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	262	Missing (in Ref. 3; BAB85034).	Missing.	Poly-Gln.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	ENST00000263205.7	37	c.751_753delCAG	CCDS33602.1																																																																																				0.591	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		26	352						26	352	---	---	---	---
MN1	4330	broad.mit.edu	37	22	28194934	28194936	+	In_Frame_Del	DEL	TGC	TGC	-	rs34890218|rs45480998|rs45597040	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:28194934_28194936delTGC	ENST00000302326.4	-	1	2550_2552	c.1596_1598delGCA	c.(1594-1599)cagcaa>caa	p.532_533QQ>Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	532	Poly-Gln.				intramembranous ossification (GO:0001957)			p.Q532Q(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						ctgctgctgttgctgctgctgct	0.65			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		1	Substitution - coding silent(1)	p.Q532Q(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(1594-1599)caa>ca		meningioma (disrupted in balanced translocation) 1				226,138,2110		41,6,138,37,58,957						-0.4	1.0		dbSNP_126	5	429,825,4222		34,24,337,178,445,1720	no	codingComplex	MN1	NM_002430.2		75,30,475,215,503,2677	A1A1,A1A2,A1R,A2A2,A2R,RR		22.8999,14.713,20.3522				655,963,6332				SO:0001651	inframe_deletion	4330						binding	g.chr22:28194934_28194936delTGC	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1596_1598delGCA	22.37:g.28194943_28194945delTGC	ENSP00000304956:p.Gln550del						p.QQ548del	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	2550_2552	-			548			Poly-Gln.		A9Z1V9	In_Frame_Del	DEL	ENST00000302326.4	37	c.1596_1598delGCA	CCDS42998.1																																																																																				0.650	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		7	78						7	78	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36696948	36696950	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:36696948_36696950delCTC	ENST00000216181.5	-	22	3015_3017	c.2785_2787delGAG	c.(2785-2787)gagdel	p.E929del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	929					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTGGCAGCGCTCCTCCTCCTCC	0.665			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(2785-2787)del		myosin, heavy chain 9, non-muscle																																				SO:0001651	inframe_deletion	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36696948_36696950delCTC		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2785_2787delGAG	22.37:g.36696957_36696959delCTC	ENSP00000216181:p.Glu929del						p.E929del	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			22	3015_3017	-			929					A8K6E4|O60805|Q60FE2|Q86T83	In_Frame_Del	DEL	ENST00000216181.5	37	c.2785_2787delGAG	CCDS13927.1																																																																																				0.665	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		7	870						7	870	---	---	---	---
SSTR3	6753	broad.mit.edu	37	22	37602773	37602775	+	In_Frame_Del	DEL	TCC	TCC	-	rs4988470	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:37602773_37602775delTCC	ENST00000328544.3	-	2	1601_1603	c.1068_1070delGGA	c.(1066-1071)gaggat>gat	p.E356del	SSTR3_ENST00000402501.1_In_Frame_Del_p.E356del	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	356	Glu-rich (acidic).				cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	ctcctccccatcctcctcctcct	0.714																																						ENST00000328544.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						c.(1066-1071)gat>ga		somatostatin receptor 3																																				SO:0001651	inframe_deletion	0				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37602773_37602775delTCC		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.1068_1070delGGA	22.37:g.37602782_37602784delTCC	ENSP00000330138:p.Glu356del					SSTR3_ENST00000402501.1_In_Frame_Del_p.ED356del	p.ED356del	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN			2	1601_1603	-			356			Glu-rich (acidic).		A8K550|Q53ZR7	In_Frame_Del	DEL	ENST00000328544.3	37	c.1068_1070delGGA	CCDS13944.1																																																																																				0.714	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			7	315						7	315	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42605990	42605992	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:42605990_42605992delCTG	ENST00000359486.3	-	1	5456_5458	c.5320_5322delCAG	c.(5320-5322)cagdel	p.Q1774del	TCF20_ENST00000404876.1_In_Frame_Del_p.Q75del|TCF20_ENST00000335626.4_In_Frame_Del_p.Q1774del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1774					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TCTGCTCCTTCTGCTGCTGCTGC	0.601																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(5320-5322)del		transcription factor 20 (AR1)																																				SO:0001651	inframe_deletion	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42605990_42605992delCTG	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5320_5322delCAG	22.37:g.42605999_42606001delCTG	ENSP00000352463:p.Gln1774del					TCF20_ENST00000335626.4_In_Frame_Del_p.Q1774del|TCF20_ENST00000404876.1_In_Frame_Del_p.Q75del	p.Q1774del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	5456_5458	-			1774					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	In_Frame_Del	DEL	ENST00000359486.3	37	c.5320_5322delCAG	CCDS14033.1																																																																																				0.601	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		8	664						8	664	---	---	---	---
ARFGAP3	26286	broad.mit.edu	37	22	43213780	43213780	+	Frame_Shift_Del	DEL	T	T	-	rs552164906		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:43213780delT	ENST00000263245.5	-	10	1115	c.896delA	c.(895-897)aatfs	p.N299fs	ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs|ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	299					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TGAGTCAACATTTTTTTTGCC	0.363																																					GBM(58;544 1030 21460 27159 48838)	ENST00000263245.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						c.(895-897)atfs		ADP-ribosylation factor GTPase activating protein 3							317.0	285.0	296.0					22																	43213780		2203	4300	6503	SO:0001589	frameshift_variant	26286				intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding	g.chr22:43213780delT	AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"""ADP-ribosylation factor GTPase activating proteins"""	661	protein-coding gene	gene with protein product		612439	"""ADP-ribosylation factor GTPase activating protein 1"""	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.896delA	22.37:g.43213780delT	ENSP00000263245:p.Asn299fs					ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs|ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs	p.N299fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN			10	1115	-			299					E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Frame_Shift_Del	DEL	ENST00000263245.5	37	c.896delA	CCDS14042.1																																																																																				0.363	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570		12	1003						12	1003	---	---	---	---
GNL3L	54552	broad.mit.edu	37	X	54578339	54578341	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:54578339_54578341delGAA	ENST00000336470.4	+	12	1252_1254	c.1113_1115delGAA	c.(1111-1116)gggaag>ggg	p.K375del	GNL3L_ENST00000360845.2_In_Frame_Del_p.K375del	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	375					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						ACCGTTTGGGGAAGAAGAAGAAG	0.557																																						ENST00000336470.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						c.(1111-1116)ggg>gg		guanine nucleotide binding protein-like 3 (nucleolar)-like																																				SO:0001651	inframe_deletion	54552				ribosome biogenesis	nucleolus	GTP binding	g.chrX:54578339_54578341delGAA	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.1113_1115delGAA	X.37:g.54578348_54578350delGAA	ENSP00000338573:p.Lys375del					GNL3L_ENST00000360845.2_In_Frame_Del_p.GK371del	p.GK371del	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN			12	1252_1254	+			371						In_Frame_Del	DEL	ENST00000336470.4	37	c.1113_1115delGAA	CCDS14360.1																																																																																				0.557	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067		10	446						10	446	---	---	---	---
MED12	9968	broad.mit.edu	37	X	70360648	70360650	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:70360648_70360650delCAG	ENST00000374080.3	+	42	6240_6242	c.6208_6210delCAG	c.(6208-6210)cagdel	p.Q2076del	AL590764.1_ENST00000579622.1_RNA|MED12_ENST00000374102.1_In_Frame_Del_p.Q2075del|MED12_ENST00000333646.6_In_Frame_Del_p.Q2079del			Q93074	MED12_HUMAN	mediator complex subunit 12	2076	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					gcaacagcaacagcagcagcagc	0.621			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(6217-6219)del		mediator complex subunit 12				7,109,3423		0,0,6,1,1,78,29,1439,461						2.6	0.4			23	29,192,5891		2,0,16,9,2,98,90,2148,1481	no	codingComplex	MED12	NM_005120.2		2,0,22,10,3,176,119,3587,1942	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		3.6158,3.2778,3.4919				36,301,9314				SO:0001651	inframe_deletion	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70360648_70360650delCAG	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.6208_6210delCAG	X.37:g.70360657_70360659delCAG	ENSP00000363193:p.Gln2076del					MED12_ENST00000374102.1_In_Frame_Del_p.Q2075del|MED12_ENST00000374080.3_In_Frame_Del_p.Q2076del|MED12_ENST00000478889.1_3'UTR	p.Q2079del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			42	6416_6418	+	Renal(35;0.156)		2076			Gln-rich.		O15410|O75557|Q9UHV6|Q9UND7	In_Frame_Del	DEL	ENST00000374080.3	37	c.6217_6219delCAG	CCDS43970.1																																																																																				0.621	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		7	357						7	357	---	---	---	---
NAP1L2	4674	broad.mit.edu	37	X	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-	rs369450592		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.E79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424														95	0.0251656	0.0272	0.0173	3775	,	,		14422	0.0069		0.0089	False		,,,				2504	0.0317					ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(661-666)gac>ga		nucleosome assembly protein 1-like 2																																				SO:0001651	inframe_deletion	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433664_72433666delTCC	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.663_665delGGA	X.37:g.72433673_72433675delTCC	ENSP00000362616:p.Glu221del					NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	p.ED221del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	1018_1020	-	Renal(35;0.156)		221			Glu-rich (acidic).		B2RE61|B4E161|Q8TAN6	In_Frame_Del	DEL	ENST00000373517.3	37	c.663_665delGGA	CCDS14423.1																																																																																				0.424	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		21	270						21	270	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73047124	73047125	+	lincRNA	DEL	AC	AC	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:73047124_73047125delAC	ENST00000604411.1	+	0	35085_35086				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		GCCACACATGACACACACACAC	0.47																																						ENST00000604411.1																			0																	21,2160		6,4,5,902,352						-3.8	0.0			146	63,3745		10,20,23,1404,917	no	intergenic				16,24,28,2306,1269	A1A1,A1R,A1,RR,R		1.6544,0.9629,1.4026				84,5905						0							g.chrX:73047124_73047125delAC			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73047134_73047135delAC						XIST_ENST00000429829.1_lincRNA		NR_003255.2						0	35085_35086	+									RNA	DEL	ENST00000604411.1	37																																																																																						0.470	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		7	591						7	591	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76907782	76907784	+	In_Frame_Del	DEL	TCC	TCC	-	rs398123423|rs587780286		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:76907782_76907784delTCC	ENST00000373344.5	-	15	4591_4593	c.4377_4379delGGA	c.(4375-4380)gaggaa>gaa	p.1459_1460EE>E	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.1421_1422EE>E	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1459	Poly-Glu.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ctcctcctcttcctcctcctcct	0.389			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4375-4380)gaa>ga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)		,	8,3713		0,6,2,1586,535					,	-5.4	0.0			152	29,6454		0,23,6,2334,1763	no	coding,coding	ATRX	NM_138270.2,NM_000489.3	,	0,29,8,3920,2298	A1A1,A1R,A1,RR,R		0.4473,0.215,0.3626	,	,		37,10167				SO:0001651	inframe_deletion	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76907782_76907784delTCC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4377_4379delGGA	X.37:g.76907791_76907793delTCC	ENSP00000362441:p.Glu1464del					ATRX_ENST00000395603.3_In_Frame_Del_p.EE1425del|ATRX_ENST00000480283.1_5'UTR	p.EE1463del	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			15	4591_4593	-			1463			Poly-Glu.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	In_Frame_Del	DEL	ENST00000373344.5	37	c.4377_4379delGGA	CCDS14434.1																																																																																				0.389	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		9	545						9	545	---	---	---	---
