#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
OR2M2	391194	broad.mit.edu	37	1	248344094	248344094	+	Silent	SNP	G	G	A	rs140026971	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:248344094G>A	ENST00000359682.2	+	1	807	c.807G>A	c.(805-807)acG>acA	p.T269T		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T269T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACTCCCCAACGCAGGACAAGA	0.502																																						ENST00000359682.2																			1	Substitution - coding silent(1)	p.T269T(1)	endometrium(1)	NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70						c.(805-807)acG>acA		olfactory receptor, family 2, subfamily M, member 2		G		3,4403	6.2+/-15.9	0,3,2200	207.0	185.0	192.0		807	-4.1	0.0	1	dbSNP_134	192	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	OR2M2	NM_001004688.1		0,5,6498	AA,AG,GG		0.0233,0.0681,0.0384		269/348	248344094	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248344094G>A	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.807G>A	1.37:g.248344094G>A							p.T269T	NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	807	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		269					A3KFT4	Silent	SNP	ENST00000359682.2	37	c.807G>A	CCDS31106.1																																																																																				0.502	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		107	680	0	0	0	1	0	107	680				
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16.0	18.0	18.0					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		12	116	0	0	0	1	0	12	116				
CDH4	1002	broad.mit.edu	37	20	60503309	60503309	+	Silent	SNP	C	C	T	rs368405359		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr20:60503309C>T	ENST00000360469.5	+	12	1921	c.1833C>T	c.(1831-1833)aaC>aaT	p.N611N	CDH4_ENST00000543233.1_Silent_p.N537N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	611	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TCAACGACAACGCCCCTGAGC	0.627																																						ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(1831-1833)aaC>aaT		cadherin 4, type 1, R-cadherin (retinal)		C		1,4405	2.1+/-5.4	0,1,2202	131.0	141.0	138.0		1833	-7.0	0.8	20		138	0,8600		0,0,4300	no	coding-synonymous	CDH4	NM_001794.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		611/917	60503309	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60503309C>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1833C>T	20.37:g.60503309C>T						CDH4_ENST00000543233.1_Silent_p.N537N	p.N611N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		12	1921	+			611			Cadherin 4.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	c.1833C>T	CCDS13488.1																																																																																				0.627	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		110	876	0	0	0	1	0	110	876				
FLG	2312	broad.mit.edu	37	1	152281106	152281106	+	Missense_Mutation	SNP	G	G	A	rs146352383		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:152281106G>A	ENST00000368799.1	-	3	6291	c.6256C>T	c.(6256-6258)Cgt>Tgt	p.R2086C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2086	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)	p.R2086C(1)		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)			GACCCTGAACGTCCAGAGCTT	0.562									Ichthyosis																													ENST00000368799.1																			1	Substitution - Missense(1)	p.R2086C(1)	pancreas(1)	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.(6256-6258)Cgt>Tgt		filaggrin		G	CYS/ARG	5,4401	9.9+/-24.2	0,5,2198	303.0	241.0	262.0		6256	0.8	0.0	1	dbSNP_134	262	0,8600		0,0,4300	no	missense	FLG	NM_002016.1	180	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	probably-damaging	2086/4062	152281106	5,13001	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.chr1:152281106G>A	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.6256C>T	1.37:g.152281106G>A	ENSP00000357789:p.Arg2086Cys					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R2086C	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6291	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2086			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.6256C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	3.630	-0.075737	0.07184	0.001135	0.0	ENSG00000143631	ENST00000368799	T	0.01745	4.66	1.8	0.774	0.18521	.	.	.	.	.	T	0.01695	0.0054	M	0.75447	2.3	0.09310	N	1	D	0.69078	0.997	P	0.52598	0.703	T	0.45234	-0.9275	9	0.46703	T	0.11	.	5.1112	0.14809	0.0:0.0:0.6526:0.3474	.	2086	P20930	FILA_HUMAN	C	2086	ENSP00000357789:R2086C	ENSP00000357789:R2086C	R	-	1	0	FLG	150547730	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.273000	0.18662	0.285000	0.22329	0.485000	0.47835	CGT		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	990	0	0	0	1	0	7	990				
KHDRBS2	202559	broad.mit.edu	37	6	62887161	62887161	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr6:62887161G>A	ENST00000281156.4	-	2	426	c.148C>T	c.(148-150)Ctt>Ttt	p.L50F		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	50					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		ATGACATCAAGATACTTCTTT	0.338																																						ENST00000281156.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(148-150)Ctt>Ttt		KH domain containing, RNA binding, signal transduction associated 2							133.0	122.0	125.0					6																	62887161		2200	4298	6498	SO:0001583	missense	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62887161G>A	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.148C>T	6.37:g.62887161G>A	ENSP00000281156:p.Leu50Phe						p.L50F	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	2	426	-			50					A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	c.148C>T	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174934	0.78564	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.16324	2.35	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.16938	0.0407	L	0.56769	1.78	0.80722	D	1	P	0.52842	0.956	P	0.50754	0.649	T	0.00708	-1.1600	10	0.62326	D	0.03	-4.1269	11.3289	0.49465	0.0836:0.0:0.9164:0.0	.	50	Q5VWX1	KHDR2_HUMAN	F	50	ENSP00000281156:L50F	ENSP00000281156:L50F	L	-	1	0	KHDRBS2	62945120	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.320000	0.72876	2.447000	0.82792	0.460000	0.39030	CTT		0.338	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		17	163	0	0	0	1	0	17	163				
LOC645752	645752	broad.mit.edu	37	15	78211512	78211512	+	lincRNA	SNP	C	C	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	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			6	560	1	0	5.9392e-07	1	6.20916e-07	6	560				
SFMBT1	51460	broad.mit.edu	37	3	52939159	52939159	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr3:52939159G>A	ENST00000394752.3	-	21	2976	c.2594C>T	c.(2593-2595)gCc>gTc	p.A865V	SFMBT1_ENST00000394750.1_Missense_Mutation_p.A865V|SFMBT1_ENST00000296295.6_Missense_Mutation_p.A822V|SFMBT1_ENST00000358080.2_Missense_Mutation_p.A865V	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	865					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TTCTCAGTTGGCAAACTGCTC	0.448																																						ENST00000394752.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24						c.(2593-2595)gCc>gTc		Scm-like with four mbt domains 1							119.0	108.0	111.0					3																	52939159		2203	4300	6503	SO:0001583	missense	51460				regulation of transcription, DNA-dependent	nucleus		g.chr3:52939159G>A	AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.2594C>T	3.37:g.52939159G>A	ENSP00000378235:p.Ala865Val					SFMBT1_ENST00000394750.1_Missense_Mutation_p.A865V|SFMBT1_ENST00000358080.2_Missense_Mutation_p.A865V|SFMBT1_ENST00000296295.6_Missense_Mutation_p.A822V	p.A865V	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)	21	2976	-			865					Q402F7|Q96C73|Q9Y4Q9	Missense_Mutation	SNP	ENST00000394752.3	37	c.2594C>T	CCDS2867.1	.	.	.	.	.	.	.	.	.	.	G	34	5.394423	0.96009	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750	T;T;T;T	0.26957	1.7;1.7;2.19;1.7	6.16	6.16	0.99307	Sterile alpha motif/pointed domain (1);	0.000000	0.85682	D	0.000000	T	0.46151	0.1378	L	0.44542	1.39	0.80722	D	1	D;D	0.69078	0.997;0.996	D;P	0.66196	0.942;0.877	T	0.20174	-1.0283	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	822;865	Q9UHJ3-2;Q9UHJ3	.;SMBT1_HUMAN	V	865;865;822;865	ENSP00000378235:A865V;ENSP00000350789:A865V;ENSP00000296295:A822V;ENSP00000378233:A865V	ENSP00000296295:A822V	A	-	2	0	SFMBT1	52914199	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	GCC		0.448	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329		5	529	0	0	0	1	0	5	529				
RNF39	80352	broad.mit.edu	37	6	30043491	30043491	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr6:30043491C>T	ENST00000244360.6	-	1	173	c.76G>A	c.(76-78)Gca>Aca	p.A26T	RNF39_ENST00000376751.3_Missense_Mutation_p.A26T	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	26						cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										TTAACTTTTGCCGCTTTCCGC	0.602																																					NSCLC(8;188 360 1520 20207 31481)	ENST00000244360.6																			0											c.(76-78)Gca>Aca		ring finger protein 39							51.0	53.0	53.0					6																	30043491		2203	4300	6503	SO:0001583	missense	80352					cytoplasm	zinc ion binding	g.chr6:30043491C>T	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"""RING-type (C3HC4) zinc fingers"""	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.76G>A	6.37:g.30043491C>T	ENSP00000244360:p.Ala26Thr					RNF39_ENST00000376751.3_Missense_Mutation_p.A26T	p.A26T	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN			1	173	-			26					A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Missense_Mutation	SNP	ENST00000244360.6	37	c.76G>A	CCDS4673.1	.	.	.	.	.	.	.	.	.	.	c	17.05	3.290422	0.59976	.	.	ENSG00000204618	ENST00000376751;ENST00000244360;ENST00000376746	T;T	0.70749	-0.03;-0.51	3.51	0.223	0.15292	.	.	.	.	.	T	0.23492	0.0568	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.09377	0.002;0.004	T	0.17137	-1.0379	9	0.66056	D	0.02	.	2.3362	0.04248	0.1257:0.4139:0.293:0.1674	.	26;26	Q9H2S5;Q9H2S5-2	RNF39_HUMAN;.	T	26	ENSP00000365942:A26T;ENSP00000244360:A26T	ENSP00000244360:A26T	A	-	1	0	RNF39	30151470	0.000000	0.05858	0.000000	0.03702	0.834000	0.47266	-0.148000	0.10219	0.251000	0.21505	0.436000	0.28706	GCA		0.602	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769		5	395	0	0	0	1	0	5	395				
TMEM186	25880	broad.mit.edu	37	16	8890319	8890319	+	Silent	SNP	C	C	T	rs149142450		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr16:8890319C>T	ENST00000333050.6	-	2	165	c.132G>A	c.(130-132)tcG>tcA	p.S44S	PMM2_ENST00000537352.1_5'Flank|PMM2_ENST00000569958.1_5'Flank|PMM2_ENST00000566983.1_Intron|TMEM186_ENST00000564869.1_Intron|PMM2_ENST00000539622.1_5'Flank|PMM2_ENST00000268261.4_5'Flank	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	44						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						GTTTCTCCTTCGAGATGGGTG	0.532													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22686	0.0		0.0	False		,,,				2504	0.0					ENST00000333050.6																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(130-132)tcG>tcA		transmembrane protein 186		C		1,4393	2.1+/-5.4	0,1,2196	123.0	128.0	126.0		132	-10.6	0.0	16	dbSNP_134	126	0,8600		0,0,4300	no	coding-synonymous	TMEM186	NM_015421.3		0,1,6496	TT,TC,CC		0.0,0.0228,0.0077		44/214	8890319	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	25880					integral to membrane|mitochondrion		g.chr16:8890319C>T	BC015912	CCDS10535.1	16p13.2	2008-02-05	2007-02-08	2007-02-08	ENSG00000184857	ENSG00000184857			24530	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 51"""	C16orf51		11230166	Standard	NM_015421		Approved	DKFZP564K2062	uc002cze.3	Q96B77	OTTHUMG00000129696	ENST00000333050.6:c.132G>A	16.37:g.8890319C>T						TMEM186_ENST00000564869.1_Intron|PMM2_ENST00000566983.1_Intron	p.S44S	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN			2	165	-			44					B2RAY0|Q9Y4T4	Silent	SNP	ENST00000333050.6	37	c.132G>A	CCDS10535.1																																																																																				0.532	TMEM186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251903.1	NM_015421		44	414	0	0	0	1	0	44	414				
DNMT3B	1789	broad.mit.edu	37	20	31388072	31388072	+	Missense_Mutation	SNP	G	G	A	rs201657518		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr20:31388072G>A	ENST00000328111.2	+	17	2194	c.1873G>A	c.(1873-1875)Gtg>Atg	p.V625M	DNMT3B_ENST00000344505.4_Missense_Mutation_p.V605M|DNMT3B_ENST00000201963.3_Missense_Mutation_p.V617M|DNMT3B_ENST00000348286.2_Missense_Mutation_p.V605M|DNMT3B_ENST00000353855.2_Missense_Mutation_p.V605M|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000443239.3_Missense_Mutation_p.V563M|DNMT3B_ENST00000456297.2_Missense_Mutation_p.V529M	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	625	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|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)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TATCAAATACGTGAACGACGT	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		22250	0.0		0.001	False		,,,				2504	0.0					ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1873-1875)Gtg>Atg		DNA (cytosine-5-)-methyltransferase 3 beta							209.0	181.0	190.0					20																	31388072		2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31388072G>A		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1873G>A	20.37:g.31388072G>A	ENSP00000328547:p.Val625Met					DNMT3B_ENST00000344505.4_Missense_Mutation_p.V605M|DNMT3B_ENST00000201963.3_Missense_Mutation_p.V617M|DNMT3B_ENST00000456297.2_Missense_Mutation_p.V529M|DNMT3B_ENST00000348286.2_Missense_Mutation_p.V605M|DNMT3B_ENST00000443239.3_Missense_Mutation_p.V563M|DNMT3B_ENST00000353855.2_Missense_Mutation_p.V605M|DNMT3B_ENST00000375623.4_3'UTR	p.V625M	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			17	2194	+			625					A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.1873G>A	CCDS13205.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	23.1	4.372608	0.82573	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	T;T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	5.65	5.65	0.86999	.	0.058115	0.64402	D	0.000002	D	0.83133	0.5188	M	0.66439	2.03	0.80722	D	1	D;P;P;P;B;P;P	0.55800	0.973;0.952;0.909;0.778;0.435;0.491;0.689	P;P;P;B;B;B;P	0.51193	0.523;0.641;0.662;0.322;0.146;0.322;0.554	D	0.84179	0.0438	10	0.59425	D	0.04	-22.0454	19.0797	0.93177	0.0:0.0:1.0:0.0	.	529;563;324;617;605;605;625	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	M	625;605;605;563;529;605;617	ENSP00000328547:V625M;ENSP00000313397:V605M;ENSP00000337764:V605M;ENSP00000403169:V563M;ENSP00000412305:V529M;ENSP00000345105:V605M;ENSP00000201963:V617M	ENSP00000201963:V617M	V	+	1	0	DNMT3B	30851733	1.000000	0.71417	0.951000	0.38953	0.794000	0.44872	7.973000	0.88032	2.810000	0.96702	0.650000	0.86243	GTG		0.493	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		63	406	0	0	0	1	0	63	406				
FYCO1	79443	broad.mit.edu	37	3	46021250	46021250	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr3:46021250C>T	ENST00000296137.2	-	4	440	c.235G>A	c.(235-237)Gcc>Acc	p.A79T	FYCO1_ENST00000535325.1_Missense_Mutation_p.A79T	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	79	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TTCACCTTGGCCAGGCAGGCA	0.517																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(235-237)Gcc>Acc		FYVE and coiled-coil domain containing 1							190.0	167.0	175.0					3																	46021250		2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46021250C>T	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.235G>A	3.37:g.46021250C>T	ENSP00000296137:p.Ala79Thr					FYCO1_ENST00000535325.1_Missense_Mutation_p.A79T	p.A79T	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	4	440	-			79			RUN.		B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.235G>A	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	C	31	5.075950	0.94000	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.30182	1.54;1.54	5.6	5.6	0.85130	RUN (2);	0.000000	0.85682	D	0.000000	T	0.53029	0.1771	L	0.53249	1.67	0.53005	D	0.99996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.52675	-0.8544	10	0.87932	D	0	-20.7471	17.7942	0.88565	0.0:1.0:0.0:0.0	.	79;79	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	T	79	ENSP00000296137:A79T;ENSP00000441178:A79T	ENSP00000296137:A79T	A	-	1	0	FYCO1	45996254	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.591000	0.61019	2.641000	0.89580	0.585000	0.79938	GCC		0.517	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		5	412	0	0	0	1	0	5	412				
PAXBP1	94104	broad.mit.edu	37	21	34118020	34118020	+	Missense_Mutation	SNP	G	G	A	rs141072916		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr21:34118020G>A	ENST00000331923.4	-	12	2122	c.1933C>T	c.(1933-1935)Cgt>Tgt	p.R645C	PAXBP1_ENST00000290178.4_Missense_Mutation_p.R645C|PAXBP1-AS1_ENST00000440052.1_RNA	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	645					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TCAAAGTCACGACATTTTGCC	0.363																																						ENST00000331923.4																			0											c.(1933-1935)Cgt>Tgt		PAX3 and PAX7 binding protein 1		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	161.0	146.0	151.0		1933,1933	5.7	1.0	21	dbSNP_134	151	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GCFC1	NM_013329.3,NM_016631.3	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	645/816,645/918	34118020	1,13005	2203	4300	6503	SO:0001583	missense	94104							g.chr21:34118020G>A	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.1933C>T	21.37:g.34118020G>A	ENSP00000328992:p.Arg645Cys					PAXBP1_ENST00000290178.4_Missense_Mutation_p.R645C	p.R645C	NM_016631.3	NP_057715.2					12	2122	-								D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	c.1933C>T	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183194	0.38511	0.0	1.16E-4	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.44482	0.92;0.92	5.74	5.74	0.90152	GC-rich sequence DNA-binding factor domain (1);	0.361931	0.33691	N	0.004658	T	0.24547	0.0595	N	0.04959	-0.14	0.47476	D	0.999433	B;B;B	0.16603	0.015;0.018;0.006	B;B;B	0.10450	0.003;0.005;0.003	T	0.06250	-1.0837	10	0.54805	T	0.06	-8.4519	13.1499	0.59484	0.0737:0.0:0.9263:0.0	.	645;645;154	Q9Y5B6-2;Q9Y5B6;B3KSC0	.;GCFC1_HUMAN;.	C	645	ENSP00000328992:R645C;ENSP00000290178:R645C	ENSP00000290178:R645C	R	-	1	0	GCFC1	33039891	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.840000	0.48215	2.873000	0.98535	0.561000	0.74099	CGT		0.363	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		40	290	0	0	0	1	0	40	290				
SLC24A1	9187	broad.mit.edu	37	15	65943130	65943130	+	Silent	SNP	G	G	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr15:65943130G>A	ENST00000261892.6	+	7	2930	c.2643G>A	c.(2641-2643)gaG>gaA	p.E881E	SLC24A1_ENST00000544319.2_Silent_p.E767E|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000537259.1_Silent_p.E863E|SLC24A1_ENST00000546330.1_Silent_p.E863E|SLC24A1_ENST00000399033.4_Silent_p.E881E|SLC24A1_ENST00000339868.6_Silent_p.E863E	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	881	Poly-Glu.				calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						aggaggaagaggaggaggagg	0.562																																						ENST00000261892.6																			0				breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2641-2643)gaG>gaA		solute carrier family 24 (sodium/potassium/calcium exchanger), member 1							37.0	42.0	40.0					15																	65943130		2191	4285	6476	SO:0001819	synonymous_variant	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65943130G>A	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.2643G>A	15.37:g.65943130G>A						SLC24A1_ENST00000399033.4_Silent_p.E881E|SLC24A1_ENST00000546330.1_Silent_p.E863E|SLC24A1_ENST00000544319.2_Silent_p.E767E|SLC24A1_ENST00000537259.1_Silent_p.E863E|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000339868.6_Silent_p.E863E	p.E881E	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN			7	2930	+			881			Poly-Glu.		O43485|O75184|Q17RM9	Silent	SNP	ENST00000261892.6	37	c.2643G>A	CCDS45284.1																																																																																				0.562	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		4	132	0	0	0	1	0	4	132				
C11orf63	79864	broad.mit.edu	37	11	122817261	122817261	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr11:122817261C>A	ENST00000531316.1	+	5	1782	c.1690C>A	c.(1690-1692)Ctc>Atc	p.L564I	C11orf63_ENST00000227349.2_Missense_Mutation_p.L564I			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	564					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AGATTCATGGCTCACCCAGAT	0.458																																						ENST00000227349.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1690-1692)Ctc>Atc		chromosome 11 open reading frame 63							69.0	67.0	67.0					11																	122817261		2202	4299	6501	SO:0001583	missense	79864							g.chr11:122817261C>A	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.1690C>A	11.37:g.122817261C>A	ENSP00000431669:p.Leu564Ile					C11orf63_ENST00000531316.1_Missense_Mutation_p.L564I	p.L564I	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	6	1987	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	564					A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	c.1690C>A	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322699	0.81580	.	.	ENSG00000109944	ENST00000227349;ENST00000531316	T;T	0.27104	1.69;1.69	5.66	5.66	0.87406	.	0.000000	0.53938	D	0.000049	T	0.52484	0.1737	M	0.73598	2.24	0.41135	D	0.985915	D	0.89917	1.0	D	0.91635	0.999	T	0.48043	-0.9069	10	0.40728	T	0.16	-12.9324	17.533	0.87819	0.0:1.0:0.0:0.0	.	564	Q6NUN7	CK063_HUMAN	I	564	ENSP00000227349:L564I;ENSP00000431669:L564I	ENSP00000227349:L564I	L	+	1	0	C11orf63	122322471	0.996000	0.38824	0.669000	0.29828	0.090000	0.18270	2.192000	0.42649	2.666000	0.90696	0.655000	0.94253	CTC		0.458	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		5	375	1	0	1	1	1	5	375				
TPTE2P6	374491	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs201252723	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104				TPTE2P6_ENST00000440905.1_RNA																							TTGAAACAGCTGGTGTATTAA	0.373																																						ENST00000453498.1																			0																																																			0							g.chr13:25168432T>C																													13.37:g.25168432T>C														0	1104	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.373	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			4	158	0	0	0	1	0	4	158				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron			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_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron	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		10	299	0	0	0	1	0	10	299				
HELZ2	85441	broad.mit.edu	37	20	62193693	62193693	+	Silent	SNP	C	C	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr20:62193693C>A	ENST00000467148.1	-	9	6414	c.6345G>T	c.(6343-6345)ccG>ccT	p.P2115P	HELZ2_ENST00000427522.2_Silent_p.P1546P	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2115					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TGGTGACCAGCGGGGACGCCT	0.682																																						ENST00000467148.1																			0											c.(6343-6345)ccG>ccT		helicase with zinc finger 2, transcriptional coactivator							11.0	12.0	12.0					20																	62193693		2151	4259	6410	SO:0001819	synonymous_variant	85441							g.chr20:62193693C>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.6345G>T	20.37:g.62193693C>A						HELZ2_ENST00000427522.2_Silent_p.P1546P	p.P2115P	NM_001037335.2	NP_001032412.2					9	6414	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.6345G>T	CCDS33508.1																																																																																				0.682	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		10	75	1	0	2.17888e-05	1	2.26322e-05	10	75				
SIGLEC11	114132	broad.mit.edu	37	19	50462043	50462043	+	Missense_Mutation	SNP	C	C	T	rs201115105		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:50462043C>T	ENST00000447370.2	-	7	1310	c.1220G>A	c.(1219-1221)gGa>gAa	p.G407E	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.G407E|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	407	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CACGGTCTGTCCCCACCGGGT	0.682																																						ENST00000447370.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(1219-1221)gGa>gAa		sialic acid binding Ig-like lectin 11							33.0	38.0	36.0					19																	50462043		2203	4300	6503	SO:0001583	missense	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50462043C>T	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1220G>A	19.37:g.50462043C>T	ENSP00000412361:p.Gly407Glu					SIGLEC11_ENST00000426971.2_Missense_Mutation_p.G407E	p.G407E	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	7	1310	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	407			Ig-like C2-type 3.			Missense_Mutation	SNP	ENST00000447370.2	37	c.1220G>A	CCDS12790.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.387|6.387	0.439559|0.439559	0.12104|0.12104	.|.	.|.	ENSG00000161640|ENSG00000161640	ENST00000426971|ENST00000447370;ENST00000458019	.|T	.|0.15487	.|2.42	2.45|2.45	-4.91|-4.91	0.03085|0.03085	.|Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.|3.276290	.|0.00567	.|N	.|0.000300	T|T	0.18635|0.18635	0.0447|0.0447	M|M	0.66297|0.66297	2.02|2.02	0.09310|0.09310	N|N	1|1	.|B;B	.|0.32324	.|0.036;0.364	.|B;B	.|0.34722	.|0.063;0.188	T|T	0.21381|0.21381	-1.0247|-1.0247	5|10	.|0.40728	.|T	.|0.16	.|.	4.0021|4.0021	0.09584|0.09584	0.0:0.3472:0.3769:0.2759|0.0:0.3472:0.3769:0.2759	.|.	.|407;407	.|Q96RL6-2;Q96RL6	.|.;SIG11_HUMAN	N|E	397|407	.|ENSP00000412361:G407E	.|ENSP00000412361:G407E	D|G	-|-	1|2	0|0	SIGLEC11|SIGLEC11	55153855|55153855	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.108000|-0.108000	0.10857|0.10857	-1.085000|-1.085000	0.03088|0.03088	-0.300000|-0.300000	0.09419|0.09419	GAC|GGA		0.682	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		5	341	0	0	0	1	0	5	341				
CACNA2D3	55799	broad.mit.edu	37	3	54604065	54604065	+	Silent	SNP	C	C	T			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr3:54604065C>T	ENST00000474759.1	+	8	870	c.822C>T	c.(820-822)atC>atT	p.I274I	CACNA2D3_ENST00000288197.5_Silent_p.I274I|CACNA2D3_ENST00000490478.1_Silent_p.I180I|CACNA2D3_ENST00000415676.2_Silent_p.I274I	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	274	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	GTCTGACTATCGCGAAGCAAA	0.463																																						ENST00000474759.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59						c.(820-822)atC>atT		calcium channel, voltage-dependent, alpha 2/delta subunit 3							182.0	176.0	178.0					3																	54604065		2016	4184	6200	SO:0001819	synonymous_variant	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54604065C>T	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.822C>T	3.37:g.54604065C>T						CACNA2D3_ENST00000415676.2_Silent_p.I274I|CACNA2D3_ENST00000288197.5_Silent_p.I274I|CACNA2D3_ENST00000490478.1_Silent_p.I180I	p.I274I	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	8	870	+			274			VWFA.		B2RPL6|Q9NY16|Q9NY18	Silent	SNP	ENST00000474759.1	37	c.822C>T	CCDS54598.1																																																																																				0.463	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			91	582	0	0	0	1	0	91	582				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron			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_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron	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		10	301	0	0	0	1	0	10	301				
MOSPD3	64598	broad.mit.edu	37	7	100212491	100212491	+	Splice_Site	SNP	C	C	T			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr7:100212491C>T	ENST00000393950.2	+	4	795	c.513C>T	c.(511-513)caC>caT	p.H171H	MOSPD3_ENST00000424091.2_Splice_Site_p.H161H|MOSPD3_ENST00000379527.2_Splice_Site_p.H171H|MOSPD3_ENST00000223054.4_Splice_Site_p.H171H	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	171					heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GTTTCTCAGACCCCCGCCAGC	0.577																																						ENST00000393950.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.e4-1		motile sperm domain containing 3							37.0	42.0	40.0					7																	100212491		2201	4300	6501	SO:0001630	splice_region_variant	64598					integral to membrane	structural molecule activity	g.chr7:100212491C>T	BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.512-1C>T	7.37:g.100212491C>T						MOSPD3_ENST00000223054.4_Splice_Site_p.H171_splice|MOSPD3_ENST00000424091.2_Splice_Site_p.H161_splice|MOSPD3_ENST00000379527.2_Splice_Site_p.H171_splice	p.H171_splice	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN			4	795	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		171					A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Splice_Site	SNP	ENST00000393950.2	37	c.511_splice	CCDS5701.1																																																																																				0.577	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	NM_023948	Silent	27	191	0	0	0	1	0	27	191				
SMG1	23049	broad.mit.edu	37	16	18937327	18937327	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr16:18937327C>T	ENST00000446231.2	-	1	449	c.37G>A	c.(37-39)Ggc>Agc	p.G13S	SMG1_ENST00000389467.3_Missense_Mutation_p.G13S|SMG1_ENST00000567737.1_5'UTR|CTD-2288F12.1_ENST00000565782.1_RNA			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	13	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						ccgccgccgccgctgcTCAGC	0.736																																						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.(37-39)Ggc>Agc		SMG1 phosphatidylinositol 3-kinase-related kinase							2.0	3.0	3.0					16																	18937327		1046	2801	3847	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.chr16:18937327C>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.37G>A	16.37:g.18937327C>T	ENSP00000402515:p.Gly13Ser					SMG1_ENST00000567737.1_5'UTR|SMG1_ENST00000389467.3_Missense_Mutation_p.G13S	p.G13S			Q96Q15	SMG1_HUMAN			1	449	-			13			Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.37G>A	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	c	16.19	3.051895	0.55218	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01240	5.12;5.12	4.27	3.31	0.37934	.	0.832224	0.10596	N	0.656220	T	0.00998	0.0033	N	0.14661	0.345	0.31512	N	0.663496	B	0.22346	0.068	B	0.08055	0.003	T	0.29912	-0.9996	10	0.12766	T	0.61	.	6.0417	0.19738	0.0:0.7231:0.0:0.2769	.	13	Q96Q15	SMG1_HUMAN	S	13	ENSP00000402515:G13S;ENSP00000374118:G13S	ENSP00000374118:G13S	G	-	1	0	SMG1	18844828	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.149000	0.42244	0.999000	0.39023	0.455000	0.32223	GGC		0.736	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		5	69	0	0	0	1	0	5	69				
KIAA1804	84451	broad.mit.edu	37	1	233514924	233514924	+	Nonsense_Mutation	SNP	T	T	G			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:233514924T>G	ENST00000366624.3	+	9	2433	c.2172T>G	c.(2170-2172)taT>taG	p.Y724*	MLK4_ENST00000366622.1_Nonsense_Mutation_p.Y170*	NM_032435.2	NP_115811.2																					CAGCTCTGTATGGGTGCACCG	0.537																																						ENST00000366624.3																			0											c.(2170-2172)taT>taG									73.0	79.0	77.0					1																	233514924		2203	4300	6503	SO:0001587	stop_gained	0							g.chr1:233514924T>G																												ENST00000366624.3:c.2172T>G	1.37:g.233514924T>G	ENSP00000355583:p.Tyr724*					MLK4_ENST00000366622.1_Nonsense_Mutation_p.Y170*	p.Y724*	NM_032435.2	NP_115811.2					9	2433	+									Nonsense_Mutation	SNP	ENST00000366624.3	37	c.2172T>G	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	T	33	5.246845	0.95305	.	.	ENSG00000143674	ENST00000366624;ENST00000366622	.	.	.	4.94	-9.89	0.00464	.	0.157373	0.44285	D	0.000479	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6556	0.68831	0.0:0.1289:0.0857:0.7855	.	.	.	.	X	724;170	.	ENSP00000355581:Y170X	Y	+	3	2	RP5-862P8.2	231581547	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-1.655000	0.01982	-2.274000	0.00680	-0.976000	0.02587	TAT		0.537	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			42	290	0	0	0	1	0	42	290				
LILRB1	10859	broad.mit.edu	37	19	55144109	55144109	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:55144109C>A	ENST00000396331.1	+	7	1213	c.856C>A	c.(856-858)Cct>Act	p.P286T	LILRB1_ENST00000396317.1_Missense_Mutation_p.P286T|LILRB1_ENST00000396332.4_Missense_Mutation_p.P286T|LILRB1_ENST00000396315.1_Missense_Mutation_p.P286T|LILRB1_ENST00000427581.2_Missense_Mutation_p.P322T|LILRB1_ENST00000396321.2_Missense_Mutation_p.P286T|LILRB1_ENST00000418536.2_Missense_Mutation_p.P286T|LILRB1_ENST00000324602.7_Missense_Mutation_p.P286T|LILRB1_ENST00000434867.2_Missense_Mutation_p.P286T|LILRB1_ENST00000448689.1_Missense_Mutation_p.P286T|LILRB1_ENST00000396327.3_Missense_Mutation_p.P286T	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	286	Ig-like C2-type 3.				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)		CACCCTGGGCCCTGTGAGCCG	0.632										HNSCC(37;0.09)																												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.(856-858)Cct>Act		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							51.0	56.0	54.0					19																	55144109		2203	4298	6501	SO:0001583	missense	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55144109C>A	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.856C>A	19.37:g.55144109C>A	ENSP00000379622:p.Pro286Thr	HNSCC(37;0.09)				LILRB1_ENST00000396317.1_Missense_Mutation_p.P286T|LILRB1_ENST00000427581.2_Missense_Mutation_p.P322T|LILRB1_ENST00000396327.3_Missense_Mutation_p.P286T|LILRB1_ENST00000418536.2_Missense_Mutation_p.P286T|LILRB1_ENST00000396315.1_Missense_Mutation_p.P286T|LILRB1_ENST00000434867.2_Missense_Mutation_p.P286T|LILRB1_ENST00000396332.4_Missense_Mutation_p.P286T|LILRB1_ENST00000396321.2_Missense_Mutation_p.P286T|LILRB1_ENST00000448689.1_Missense_Mutation_p.P286T|LILRB1_ENST00000324602.7_Missense_Mutation_p.P286T	p.P286T	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	7	1213	+			286			Ig-like C2-type 3.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.856C>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	8.074	0.770833	0.15983	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77	2.03	-1.43	0.08884	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.672928	0.12913	N	0.428831	T	0.31358	0.0794	M	0.91090	3.175	0.09310	N	1	B;D;P;P;D	0.65815	0.387;0.969;0.767;0.83;0.995	B;P;P;P;D	0.67382	0.241;0.868;0.53;0.646;0.951	T	0.07809	-1.0753	10	0.66056	D	0.02	.	4.745	0.13033	0.0:0.4872:0.0:0.5128	.	286;286;286;286;286	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	T	286;286;286;286;286;286;286;286;322;286;286	ENSP00000379614:P286T;ENSP00000391514:P286T;ENSP00000409968:P286T;ENSP00000379622:P286T;ENSP00000379618:P286T;ENSP00000315997:P286T;ENSP00000405243:P286T;ENSP00000379623:P286T;ENSP00000395004:P322T;ENSP00000379610:P286T;ENSP00000379608:P286T	ENSP00000315997:P286T	P	+	1	0	LILRB1	59835921	0.000000	0.05858	0.001000	0.08648	0.067000	0.16453	-1.269000	0.02834	-0.418000	0.07450	0.194000	0.17425	CCT		0.632	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			25	357	1	0	1.77063e-15	1	1.88789e-15	25	357				
IGHV4-34	28395	broad.mit.edu	37	14	106829684	106829684	+	RNA	SNP	G	G	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr14:106829684G>A	ENST00000390616.2	-	0	309									immunoglobulin heavy variable 4-34																		CTGATATGGTGACTCGACTCT	0.567																																						ENST00000390616.2																			0																				146.0	148.0	147.0					14																	106829684		1940	4140	6080			0							g.chr14:106829684G>A	X92278		14q32.33	2012-02-08			ENSG00000211956	ENSG00000211956		"""Immunoglobulins / IGH locus"""	5650	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152074		14.37:g.106829684G>A														0	309	-									RNA	SNP	ENST00000390616.2	37																																																																																						0.567	IGHV4-34-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325168.1	NG_001019		14	997	0	0	0	1	0	14	997				
MAST1	22983	broad.mit.edu	37	19	12969441	12969441	+	Missense_Mutation	SNP	G	G	C			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:12969441G>C	ENST00000251472.4	+	12	1293	c.1254G>C	c.(1252-1254)caG>caC	p.Q418H	MAST1_ENST00000591495.1_Missense_Mutation_p.Q414H	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AGATCCAGCAGGCCTTTGTGG	0.587																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(1252-1254)caG>caC		microtubule associated serine/threonine kinase 1							94.0	81.0	86.0					19																	12969441		2203	4300	6503	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12969441G>C	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1254G>C	19.37:g.12969441G>C	ENSP00000251472:p.Gln418His					MAST1_ENST00000591495.1_Missense_Mutation_p.Q414H	p.Q418H	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			12	1293	+			418			Protein kinase.			Missense_Mutation	SNP	ENST00000251472.4	37	c.1254G>C	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564284	0.65651	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.66460	-0.21	4.75	3.71	0.42584	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	0.60248	0.2254	N	0.03071	-0.42	0.58432	D	0.999992	D;B	0.76494	0.999;0.357	D;B	0.87578	0.998;0.237	T	0.69343	-0.5170	10	0.87932	D	0	-32.5112	11.0071	0.47641	0.0928:0.0:0.9072:0.0	.	418;418	Q9Y2H9;F5H2S9	MAST1_HUMAN;.	H	418	ENSP00000251472:Q418H	ENSP00000251472:Q418H	Q	+	3	2	MAST1	12830441	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.809000	0.62591	1.144000	0.42321	0.561000	0.74099	CAG		0.587	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		14	216	0	0	0	1	0	14	216				
PCDHA9	9752	broad.mit.edu	37	5	140229647	140229647	+	Silent	SNP	T	T	C			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr5:140229647T>C	ENST00000532602.1	+	1	2600	c.1567T>C	c.(1567-1569)Ttg>Ctg	p.L523L	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000378122.3_Silent_p.L523L|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	523	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(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGCAGCCGTTGGACCACGA	0.682																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1567-1569)Ttg>Ctg									59.0	68.0	65.0					5																	140229647		2181	4256	6437	SO:0001819	synonymous_variant	0							g.chr5:140229647T>C	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1567T>C	5.37:g.140229647T>C						PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.L523L|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	p.L523L	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2291	+								O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.1567T>C	CCDS54920.1																																																																																				0.682	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		5	829	0	0	0	1	0	5	829				
GLTSCR1L	23506	broad.mit.edu	37	6	42821420	42821420	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr6:42821420G>A	ENST00000314073.5	+	8	2166	c.1990G>A	c.(1990-1992)Gca>Aca	p.A664T	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.A664T			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	664																	CTTAGGAACCGCACAACCACA	0.428																																						ENST00000314073.5																			0											c.(1990-1992)Gca>Aca		GLTSCR1-like							151.0	130.0	137.0					6																	42821420		2203	4300	6503	SO:0001583	missense	23506							g.chr6:42821420G>A	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.1990G>A	6.37:g.42821420G>A	ENSP00000313933:p.Ala664Thr					GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.A664T	p.A664T							8	2166	+								A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	c.1990G>A	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	G	7.063	0.566769	0.13560	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.44881	0.91;0.91	4.88	-8.72	0.00845	.	1.206860	0.05800	N	0.611940	T	0.09247	0.0228	L	0.36672	1.1	0.09310	N	0.999996	B	0.10296	0.003	B	0.06405	0.002	T	0.12451	-1.0547	10	0.12103	T	0.63	5.0E-4	9.9784	0.41797	0.4926:0.0938:0.4136:0.0	.	664	Q6AI39	K0240_HUMAN	T	664	ENSP00000313933:A664T;ENSP00000377723:A664T	ENSP00000313933:A664T	A	+	1	0	KIAA0240	42929398	0.000000	0.05858	0.004000	0.12327	0.496000	0.33645	-1.124000	0.03260	-1.616000	0.01572	-0.369000	0.07265	GCA		0.428	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		6	315	0	0	0	1	0	6	315				
RIT1	6016	broad.mit.edu	37	1	155870301	155870301	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:155870301G>A	ENST00000368323.3	-	6	742	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	RIT1_ENST00000368322.3_Missense_Mutation_p.R197W|RIT1_ENST00000539040.1_Missense_Mutation_p.R144W	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	180					GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			CGTATCTCCCGTACAAGGGCA	0.453																																						ENST00000368323.3																			0				breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19						c.(538-540)Cgg>Tgg		Ras-like without CAAX 1							243.0	240.0	241.0					1																	155870301		2203	4300	6503	SO:0001583	missense	6016				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr1:155870301G>A	AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"""Ric-like, expressed in many tissues"", ""GTP-binding protein Roc1"""	609591	"""Ric (Drosophila)-like, expressed in many tissues"""	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.538C>T	1.37:g.155870301G>A	ENSP00000357306:p.Arg180Trp					RIT1_ENST00000539040.1_Missense_Mutation_p.R144W|RIT1_ENST00000461050.1_5'UTR|RIT1_ENST00000368322.3_Missense_Mutation_p.R197W	p.R180W	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)		6	742	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		180					B4DQE8|O00646|O00720|Q5VY89|Q5VY90	Missense_Mutation	SNP	ENST00000368323.3	37	c.538C>T	CCDS1123.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480244	0.84747	.	.	ENSG00000143622	ENST00000368323;ENST00000539040;ENST00000368322	T;T;T	0.79454	-1.27;-1.27;-1.27	5.8	4.81	0.61882	.	0.000000	0.64402	D	0.000003	D	0.91566	0.7336	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93734	0.7044	10	0.87932	D	0	.	17.2593	0.87065	0.0:0.0:0.8659:0.1341	.	180	Q92963	RIT1_HUMAN	W	180;144;197	ENSP00000357306:R180W;ENSP00000441950:R144W;ENSP00000357305:R197W	ENSP00000357305:R197W	R	-	1	2	RIT1	154136925	1.000000	0.71417	0.961000	0.40146	0.957000	0.61999	5.200000	0.65158	2.746000	0.94184	0.591000	0.81541	CGG		0.453	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039593.1	NM_006912		6	831	0	0	0	1	0	6	831				
DNM1P47	100216544	broad.mit.edu	37	15	102296140	102296140	+	RNA	SNP	C	C	T	rs191279075	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr15:102296140C>T	ENST00000561463.1	+	0	4186									DNM1 pseudogene 47																		GTCCAACCTGCACTCGCGTGG	0.602																																						ENST00000561463.1																			0																																																			0							g.chr15:102296140C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102296140C>T														0	4186	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.602	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		15	48	0	0	0	1	0	15	48				
RFX2	5990	broad.mit.edu	37	19	6013025	6013025	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:6013025G>A	ENST00000303657.5	-	8	1020	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000592546.1_Missense_Mutation_p.R266W|RFX2_ENST00000359161.3_Missense_Mutation_p.R291W	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GGCTGCTGCCGCATGGCCATG	0.622																																					Colon(38;171 817 19800 47433 48051)	ENST00000303657.5																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(871-873)Cgg>Tgg		regulatory factor X, 2 (influences HLA class II expression)							103.0	103.0	103.0					19																	6013025		2203	4300	6503	SO:0001583	missense	5990				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:6013025G>A		CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 2"", ""DNA binding protein RFX2"", ""HLA class II regulatory factor RFX2"""	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.871C>T	19.37:g.6013025G>A	ENSP00000306335:p.Arg291Trp					CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000359161.3_Missense_Mutation_p.R291W|RFX2_ENST00000592546.1_Missense_Mutation_p.R266W	p.R291W	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN			8	1020	-			291					A8K581|B3KNC4|Q6IQ44|Q8SNA2	Missense_Mutation	SNP	ENST00000303657.5	37	c.871C>T	CCDS12157.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263838	0.80358	.	.	ENSG00000087903	ENST00000303657;ENST00000359161;ENST00000537791	T	0.68903	-0.36	4.99	0.693	0.18056	.	0.000000	0.85682	D	0.000000	T	0.81517	0.4839	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.982	D	0.83606	0.0131	10	0.87932	D	0	-48.1749	13.7584	0.62950	0.0:0.0:0.234:0.766	.	266;291	P48378-2;P48378	.;RFX2_HUMAN	W	291;266;78	ENSP00000306335:R291W	ENSP00000306335:R291W	R	-	1	2	RFX2	5964025	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.976000	0.40579	0.152000	0.19188	0.557000	0.71058	CGG		0.622	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635		7	868	0	0	0	1	0	7	868				
RP1L1	94137	broad.mit.edu	37	8	10470671	10470671	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr8:10470671C>T	ENST00000382483.3	-	4	1160	c.937G>A	c.(937-939)Gtc>Atc	p.V313I		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	313					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TTCATGCGGACCTTCTTCTTC	0.657																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(937-939)Gtc>Atc		retinitis pigmentosa 1-like 1							82.0	91.0	88.0					8																	10470671		2128	4231	6359	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10470671C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.937G>A	8.37:g.10470671C>T	ENSP00000371923:p.Val313Ile						p.V313I	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	1160	-			313					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.937G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611972	0.87258	.	.	ENSG00000183638	ENST00000382483	T	0.08008	3.14	4.82	3.95	0.45737	.	0.000000	0.30611	U	0.009248	T	0.16599	0.0399	L	0.28504	0.86	0.38893	D	0.957152	D	0.76494	0.999	D	0.78314	0.991	T	0.03453	-1.1035	10	0.44086	T	0.13	-19.7106	12.3052	0.54898	0.0:0.9179:0.0:0.0821	.	313	A6NKC6	.	I	313	ENSP00000371923:V313I	ENSP00000371923:V313I	V	-	1	0	RP1L1	10508081	1.000000	0.71417	0.907000	0.35723	0.945000	0.59286	3.069000	0.50026	1.254000	0.44035	0.591000	0.81541	GTC		0.657	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			80	471	0	0	0	1	0	80	471				
TRGV5	6978	broad.mit.edu	37	7	38389212	38389212	+	RNA	SNP	G	G	T			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr7:38389212G>T	ENST00000390344.2	-	0	295									T cell receptor gamma variable 5																		AGATGACCTAGTCGGCCTCGT	0.473																																						ENST00000390344.2																			0																				88.0	79.0	82.0					7																	38389212		1825	3897	5722			0							g.chr7:38389212G>T	M36286		7p14	2012-02-07				ENSG00000211697		"""T cell receptors / TRG locus"""	12290	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V5"""			TCRGV5		2902186, 2969332	Standard	NG_001336		Approved	V1S5			OTTHUMG00000155101		7.37:g.38389212G>T														0	295	-									RNA	SNP	ENST00000390344.2	37																																																																																						0.473	TRGV5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338407.4	NG_001336		40	316	1	0	1.04594e-18	1	1.13018e-18	40	316				
NAGPA	51172	broad.mit.edu	37	16	5077996	5077996	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr16:5077996C>A	ENST00000312251.3	-	6	1130	c.1111G>T	c.(1111-1113)Gga>Tga	p.G371*	NAGPA_ENST00000381955.3_Nonsense_Mutation_p.G371*|RP11-165E7.1_ENST00000588778.1_RNA	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	371	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|lysosome organization (GO:0007040)|protein glycosylation (GO:0006486)|protein targeting to lysosome (GO:0006622)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity (GO:0003944)			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GTGCACAGTCCGTGCTGGCTG	0.687																																						ENST00000312251.3																			0				endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12						c.(1111-1113)Gga>Tga		N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	N-Acetyl-D-glucosamine(DB00141)						33.0	33.0	33.0					16																	5077996		2197	4300	6497	SO:0001587	stop_gained	51172				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	g.chr16:5077996C>A	AF187072	CCDS10527.1	16p13.3	2008-02-05			ENSG00000103174	ENSG00000103174	3.1.4.45		17378	protein-coding gene	gene with protein product		607985				10551838, 12058031	Standard	NM_016256		Approved	APAA, UCE	uc002cyg.3	Q9UK23	OTTHUMG00000090515	ENST00000312251.3:c.1111G>T	16.37:g.5077996C>A	ENSP00000310998:p.Gly371*					RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Nonsense_Mutation_p.G371*	p.G371*	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN			6	1130	-			371			EGF-like.		B2RAS1|Q96EJ8	Nonsense_Mutation	SNP	ENST00000312251.3	37	c.1111G>T	CCDS10527.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597193	0.66332	.	.	ENSG00000103174	ENST00000312251;ENST00000381955	.	.	.	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-29.7837	17.027	0.86450	0.0:1.0:0.0:0.0	.	.	.	.	X	371	.	ENSP00000310998:G371X	G	-	1	0	NAGPA	5017997	1.000000	0.71417	0.351000	0.25721	0.106000	0.19336	7.381000	0.79718	2.002000	0.58637	0.561000	0.74099	GGA		0.687	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207003.1	NM_016256		22	166	1	0	1.55469e-16	1	1.66871e-16	22	166				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000564451.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000567960.1_RNA								0	1866	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	443	0	0	0	1	0	5	443				
EP400	57634	broad.mit.edu	37	12	132547141	132547141	+	Silent	SNP	G	G	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000332482.4_Silent_p.Q2706Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	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.Q2742Q(2)		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)		agcagcaacagcagcagcagc	0.597																																						ENST00000333577.4																			2	Substitution - coding silent(2)	p.Q2742Q(2)	kidney(2)	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.(8335-8337)caG>caA		E1A binding protein p400							52.0	42.0	46.0					12																	132547141		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547141G>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.8337G>A	12.37:g.132547141G>A						EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000332482.4_Silent_p.Q2706Q	p.Q2779Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8446	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2779			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8337G>A																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		8	159	0	0	0	1	0	8	159				
LGALS3BP	3959	broad.mit.edu	37	17	76968673	76968673	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr17:76968673G>A	ENST00000262776.3	-	6	1051	c.743C>T	c.(742-744)gCc>gTc	p.A248V	LGALS3BP_ENST00000591778.1_Missense_Mutation_p.P164S	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	248					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GAGGAGGATGGCAAAGAGGCT	0.617																																					GBM(89;1105 1755 18102 21513)	ENST00000262776.3																			0				NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(742-744)gCc>gTc		lectin, galactoside-binding, soluble, 3 binding protein							42.0	43.0	43.0					17																	76968673		2203	4300	6503	SO:0001583	missense	3959				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity	g.chr17:76968673G>A	L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"""BTB/POZ domain containing"", ""Endogenous ligands"""	6564	protein-coding gene	gene with protein product	"""L3 antigen"", ""Mac-2-binding protein"", ""serum protein 90K"", ""transport and golgi organization 10 homolog B (Drosophila)"""	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.743C>T	17.37:g.76968673G>A	ENSP00000262776:p.Ala248Val					LGALS3BP_ENST00000591778.1_Missense_Mutation_p.P164S	p.A248V	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		6	1051	-			248					Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Missense_Mutation	SNP	ENST00000262776.3	37	c.743C>T	CCDS11759.1	.	.	.	.	.	.	.	.	.	.	G	6.875	0.530901	0.13127	.	.	ENSG00000108679	ENST00000262776;ENST00000536190	T	0.01422	4.91	3.65	0.453	0.16639	BTB/POZ fold (1);	0.197685	0.25183	N	0.032512	T	0.01387	0.0045	L	0.44542	1.39	0.09310	N	0.999999	B	0.15141	0.012	B	0.10450	0.005	T	0.46952	-0.9154	10	0.25751	T	0.34	-24.5418	6.2835	0.21021	0.3254:0.0:0.6746:0.0	.	248	Q08380	LG3BP_HUMAN	V	248;236	ENSP00000262776:A248V	ENSP00000262776:A248V	A	-	2	0	LGALS3BP	74480268	0.743000	0.28239	0.008000	0.14137	0.424000	0.31475	2.722000	0.47269	0.146000	0.19002	0.561000	0.74099	GCC		0.617	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437785.3	NM_005567		27	225	0	0	0	1	0	27	225				
SIRPB1	10326	broad.mit.edu	37	20	1551562	1551562	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr20:1551562C>A	ENST00000381605.4	-	4	1037	c.973G>T	c.(973-975)Gat>Tat	p.D325Y	SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	325	Ig-like C1-type 2.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						AGCACCACATCGTCCCTGTGG	0.567																																						ENST00000381605.4																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(973-975)Gat>Tat		signal-regulatory protein beta 1							208.0	177.0	187.0					20																	1551562		2203	4300	6503	SO:0001583	missense	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1551562C>A	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.973G>T	20.37:g.1551562C>A	ENSP00000371018:p.Asp325Tyr					SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron	p.D325Y	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN			4	1037	-			325			Ig-like C1-type 2.		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.973G>T	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	10.44	1.350409	0.24512	.	.	ENSG00000101307	ENST00000381605	T	0.00619	6.18	2.51	-1.7	0.08159	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.007950	0.07968	N	0.983480	T	0.02380	0.0073	M	0.80982	2.52	0.09310	N	1	D	0.71674	0.998	D	0.67548	0.952	T	0.35525	-0.9785	10	0.87932	D	0	.	3.1495	0.06483	0.0:0.4093:0.2185:0.3722	.	325	O00241	SIRB1_HUMAN	Y	325	ENSP00000371018:D325Y	ENSP00000371018:D325Y	D	-	1	0	SIRPB1	1499562	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.453000	0.02383	-0.565000	0.06061	-1.575000	0.00869	GAT		0.567	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		53	336	1	0	1.46156e-29	1	1.60075e-29	53	336				
KALRN	8997	broad.mit.edu	37	3	123813627	123813627	+	De_novo_Start_InFrame	SNP	G	G	A	rs373244067		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr3:123813627G>A	ENST00000240874.3	+	0	100				KALRN_ENST00000460856.1_De_novo_Start_InFrame|KALRN_ENST00000477496.1_3'UTR|KALRN_ENST00000360013.3_De_novo_Start_InFrame	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase						apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCGAGTCAGCGGTGGTGGGAT	0.602																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83								kalirin, RhoGEF kinase			,	1,1383		0,1,691	91.0	90.0	90.0		,	3.5	1.0	3		90	0,3182		0,0,1591	no	utr-5,utr-5	KALRN	NM_001024660.3,NM_003947.4	,	0,1,2282	AA,AG,GG		0.0,0.0723,0.0219	,	,	123813627	1,4565	692	1591	2283			8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:123813627G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545		3.37:g.123813627G>A						KALRN_ENST00000477496.1_3'UTR|KALRN_ENST00000460856.1_De_novo_Start_InFrame|KALRN_ENST00000240874.3_De_novo_Start_InFrame		NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			0	70	+								A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Translation_Start_Site	SNP	ENST00000240874.3	37		CCDS3027.1																																																																																				0.602	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		14	93	0	0	0	1	0	14	93				
NES	10763	broad.mit.edu	37	1	156641485	156641485	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:156641485G>A	ENST00000368223.3	-	4	2627	c.2495C>T	c.(2494-2496)gCg>gTg	p.A832V		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	832	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCTTGTCCCGCAGACTTCAG	0.413																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(2494-2496)gCg>gTg		nestin							118.0	113.0	115.0					1																	156641485		2203	4300	6503	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156641485G>A	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.2495C>T	1.37:g.156641485G>A	ENSP00000357206:p.Ala832Val						p.A832V	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	2627	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		832			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.2495C>T	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.868932	0.51588	.	.	ENSG00000132688	ENST00000368223	D	0.85955	-2.05	5.68	-1.11	0.09840	.	0.494478	0.15171	N	0.276645	T	0.52208	0.1720	L	0.38838	1.175	0.09310	N	1	B	0.25312	0.123	B	0.12837	0.008	T	0.36040	-0.9764	10	0.35671	T	0.21	.	1.1534	0.01790	0.3298:0.2257:0.3163:0.1282	.	832	P48681	NEST_HUMAN	V	832	ENSP00000357206:A832V	ENSP00000357206:A832V	A	-	2	0	NES	154908109	0.000000	0.05858	0.001000	0.08648	0.305000	0.27757	-0.007000	0.12810	0.332000	0.23536	0.563000	0.77884	GCG		0.413	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		8	785	0	0	0	1	0	8	785				
SON	6651	broad.mit.edu	37	21	34923961	34923961	+	Silent	SNP	C	C	T			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr21:34923961C>T	ENST00000356577.4	+	3	2899	c.2424C>T	c.(2422-2424)acC>acT	p.T808T	SON_ENST00000290239.6_Silent_p.T808T|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Silent_p.T808T|SON_ENST00000300278.4_Silent_p.T808T	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	808	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.T808T(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TGTTAGCAACCAGCTCCATGG	0.512																																						ENST00000356577.4																			2	Substitution - coding silent(2)	p.T808T(2)	endometrium(2)	breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(2422-2424)acC>acT		SON DNA binding protein							132.0	132.0	132.0					21																	34923961		2203	4300	6503	SO:0001819	synonymous_variant	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34923961C>T	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.2424C>T	21.37:g.34923961C>T						SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Silent_p.T808T|SON_ENST00000290239.6_Silent_p.T808T|SON_ENST00000300278.4_Silent_p.T808T	p.T808T	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	2899	+			808			17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	37	c.2424C>T	CCDS13629.1																																																																																				0.512	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		8	1059	0	0	0	1	0	8	1059				
MRPL16	54948	broad.mit.edu	37	11	59573897	59573897	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr11:59573897G>A	ENST00000300151.4	-	4	892	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	227					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						AGTACTTTCCGTATGCCCAGC	0.468																																						ENST00000300151.4																			0				central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						c.(679-681)Cgg>Tgg		mitochondrial ribosomal protein L16							251.0	232.0	239.0					11																	59573897		2201	4295	6496	SO:0001583	missense	54948						rRNA binding	g.chr11:59573897G>A	AF183428	CCDS7976.1	11q12.1	2012-09-13			ENSG00000166902	ENSG00000166902		"""Mitochondrial ribosomal proteins / large subunits"""	14476	protein-coding gene	gene with protein product		611829					Standard	NM_017840		Approved	FLJ20484, PNAS-111	uc001noh.2	Q9NX20	OTTHUMG00000167410	ENST00000300151.4:c.679C>T	11.37:g.59573897G>A	ENSP00000300151:p.Arg227Trp						p.R227W	NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN			4	892	-			227					Q9BYD0|Q9HB70	Missense_Mutation	SNP	ENST00000300151.4	37	c.679C>T	CCDS7976.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863130	0.71949	.	.	ENSG00000166902	ENST00000300151	T	0.25912	1.77	6.07	4.02	0.46733	.	0.045846	0.85682	D	0.000000	T	0.47637	0.1456	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.50676	-0.8800	10	0.87932	D	0	-22.0244	10.3068	0.43685	0.0:0.1084:0.6643:0.2273	.	227	Q9NX20	RM16_HUMAN	W	227	ENSP00000300151:R227W	ENSP00000300151:R227W	R	-	1	2	MRPL16	59330473	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.383000	0.52471	1.562000	0.49601	0.655000	0.94253	CGG		0.468	MRPL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394521.1	NM_017840		5	645	0	0	0	1	0	5	645				
CNTN1	1272	broad.mit.edu	37	12	41323657	41323657	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr12:41323657C>T	ENST00000551295.2	+	7	673	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	CNTN1_ENST00000547849.1_Missense_Mutation_p.R186W|CNTN1_ENST00000360099.3_Missense_Mutation_p.R186W|CNTN1_ENST00000547702.1_Missense_Mutation_p.R186W|CNTN1_ENST00000348761.2_Missense_Mutation_p.R175W|CNTN1_ENST00000347616.1_Missense_Mutation_p.R186W	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	186	Ig-like C2-type 2.				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)				AATGGATAAACGGCGATTTGT	0.378																																						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.(556-558)Cgg>Tgg		contactin 1							112.0	111.0	111.0					12																	41323657		2203	4300	6503	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41323657C>T	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.556C>T	12.37:g.41323657C>T	ENSP00000447006:p.Arg186Trp					CNTN1_ENST00000547849.1_Missense_Mutation_p.R186W|CNTN1_ENST00000347616.1_Missense_Mutation_p.R186W|CNTN1_ENST00000547702.1_Missense_Mutation_p.R186W|CNTN1_ENST00000348761.2_Missense_Mutation_p.R175W|CNTN1_ENST00000360099.3_Missense_Mutation_p.R186W	p.R186W	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			7	673	+	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)	186			Ig-like C2-type 2.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.556C>T	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654902	0.67472	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	5.17	4.27	0.50696	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93494	0.7924	H	0.95917	3.74	0.52501	D	0.99995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94943	0.8093	10	0.87932	D	0	.	13.2205	0.59885	0.2891:0.7109:0.0:0.0	.	186;175;186	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	W	186;186;186;186;186;175	ENSP00000448004:R186W;ENSP00000447006:R186W;ENSP00000448653:R186W;ENSP00000325660:R186W;ENSP00000353213:R186W;ENSP00000261160:R175W	ENSP00000325660:R186W	R	+	1	2	CNTN1	39609924	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.900000	0.48687	1.308000	0.44962	0.655000	0.94253	CGG		0.378	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		68	424	0	0	0	1	0	68	424				
ADAMTS12	81792	broad.mit.edu	37	5	33683131	33683131	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr5:33683131C>A	ENST00000504830.1	-	5	1242	c.907G>T	c.(907-909)Gaa>Taa	p.E303*	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.E303*	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	303	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.|Poly-Glu.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACCTCTTCTTCTTCGAGTAGA	0.428										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(907-909)Gaa>Taa		ADAM metallopeptidase with thrombospondin type 1 motif, 12							110.0	100.0	103.0					5																	33683131		2203	4300	6503	SO:0001587	stop_gained	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33683131C>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.907G>T	5.37:g.33683131C>A	ENSP00000422554:p.Glu303*	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.E303*|ADAMTS12_ENST00000504582.1_5'UTR	p.E303*	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			5	1242	-			303			Peptidase M12B.|Poly-Glu.		A2RRN9|A5D6V6|Q6UWL3	Nonsense_Mutation	SNP	ENST00000504830.1	37	c.907G>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	42	9.642714	0.99227	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	.	.	.	5.56	5.56	0.83823	.	0.050809	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	19.5316	0.95231	0.0:1.0:0.0:0.0	.	.	.	.	X	303	.	ENSP00000344847:E303X	E	-	1	0	ADAMTS12	33718888	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.574000	0.60900	2.615000	0.88500	0.637000	0.83480	GAA		0.428	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		23	151	1	0	1.12875e-08	1	1.19559e-08	23	151				
HMGB2	3148	broad.mit.edu	37	4	174253279	174253279	+	Silent	SNP	C	C	T			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr4:174253279C>T	ENST00000296503.5	-	5	1455	c.582G>A	c.(580-582)gaG>gaA	p.E194E	RP11-798M19.3_ENST00000507803.1_RNA|HMGB2_ENST00000438704.2_Silent_p.E194E|HMGB2_ENST00000446922.2_Silent_p.E194E			P26583	HMGB2_HUMAN	high mobility group box 2	194	Asp/Glu-rich (acidic).				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|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)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)	p.E194E(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		cttcttcttcctcctcctcct	0.473																																						ENST00000296503.5																			1	Substitution - coding silent(1)	p.E194E(1)	endometrium(1)	endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14						c.(580-582)gaG>gaA		high mobility group box 2							302.0	253.0	269.0					4																	174253279		2203	4300	6503	SO:0001819	synonymous_variant	3148				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	g.chr4:174253279C>T		CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.582G>A	4.37:g.174253279C>T						HMGB2_ENST00000446922.2_Silent_p.E194E|HMGB2_ENST00000438704.2_Silent_p.E194E	p.E194E			P26583	HMGB2_HUMAN		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	5	1455	-		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	194			Asp/Glu-rich (acidic).		B2R4K8|D3DP37|Q5U072	Silent	SNP	ENST00000296503.5	37	c.582G>A	CCDS3816.1																																																																																				0.473	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	NM_001130688		6	418	0	0	0	1	0	6	418				
ATP4A	495	broad.mit.edu	37	19	36044045	36044045	+	Missense_Mutation	SNP	G	G	A	rs550481947		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:36044045G>A	ENST00000262623.3	-	18	2673	c.2645C>T	c.(2644-2646)aCg>aTg	p.T882M		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	882					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GGCCATTGCCGTGAAGTAGTC	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		22226	0.001		0.0	False		,,,				2504	0.0					ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(2644-2646)aCg>aTg		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						83.0	81.0	82.0					19																	36044045		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36044045G>A		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2645C>T	19.37:g.36044045G>A	ENSP00000262623:p.Thr882Met						p.T882M	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		18	2673	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		882					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.2645C>T	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596685	0.66332	.	.	ENSG00000105675	ENST00000262623	D	0.88664	-2.41	4.61	4.61	0.57282	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.071986	0.53938	D	0.000046	D	0.93409	0.7898	M	0.69823	2.125	0.40751	D	0.982918	D	0.89917	1.0	D	0.75484	0.986	D	0.93818	0.7116	10	0.52906	T	0.07	.	14.9885	0.71368	0.0:0.0:1.0:0.0	.	882	P20648	ATP4A_HUMAN	M	882	ENSP00000262623:T882M	ENSP00000262623:T882M	T	-	2	0	ATP4A	40735885	0.939000	0.31865	0.994000	0.49952	0.991000	0.79684	1.839000	0.39220	2.377000	0.81083	0.555000	0.69702	ACG		0.602	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		5	435	0	0	0	1	0	5	435				
GPR133	283383	broad.mit.edu	37	12	131569149	131569149	+	Missense_Mutation	SNP	G	G	A	rs200971352	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr12:131569149G>A	ENST00000261654.5	+	15	2171	c.1612G>A	c.(1612-1614)Gtc>Atc	p.V538I	GPR133_ENST00000535015.1_Missense_Mutation_p.V570I|GPR133_ENST00000376682.4_Missense_Mutation_p.V224I|GPR133_ENST00000543617.1_Missense_Mutation_p.V57I	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	538	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CACCTACTCCGTCTGCCGCTG	0.622													G|||	2	0.000399361	0.0	0.0	5008	,	,		18042	0.0		0.001	False		,,,				2504	0.001					ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(1612-1614)Gtc>Atc		G protein-coupled receptor 133							138.0	94.0	109.0					12																	131569149		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131569149G>A	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1612G>A	12.37:g.131569149G>A	ENSP00000261654:p.Val538Ile					GPR133_ENST00000535015.1_Missense_Mutation_p.V570I|GPR133_ENST00000543617.1_Missense_Mutation_p.V57I|GPR133_ENST00000376682.4_Missense_Mutation_p.V224I	p.V538I	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	15	2171	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		538			GPS.		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.1612G>A	CCDS9272.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	4.863	0.160432	0.09287	.	.	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000376682;ENST00000543617	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	4.99	-6.86	0.01676	GPS domain (3);	1.327960	0.05058	N	0.479422	T	0.45498	0.1345	N	0.13235	0.315	0.09310	N	0.999996	B;B;B	0.15930	0.003;0.012;0.015	B;B;B	0.15870	0.004;0.005;0.014	T	0.47222	-0.9134	10	0.09338	T	0.73	.	15.0568	0.71921	0.6686:0.0:0.3314:0.0	.	570;57;538	B7ZLF7;Q6QNK2-3;Q6QNK2	.;.;GP133_HUMAN	I	538;570;224;57	ENSP00000261654:V538I;ENSP00000444425:V570I;ENSP00000365872:V224I;ENSP00000438021:V57I	ENSP00000261654:V538I	V	+	1	0	GPR133	130135102	0.001000	0.12720	0.002000	0.10522	0.157000	0.22087	-0.217000	0.09253	-1.452000	0.01931	-2.516000	0.00186	GTC		0.622	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		40	199	0	0	0	1	0	40	199				
COL22A1	169044	broad.mit.edu	37	8	139890170	139890170	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr8:139890170C>T	ENST00000303045.6	-	3	927	c.481G>A	c.(481-483)Gcc>Acc	p.A161T	COL22A1_ENST00000435777.1_Missense_Mutation_p.A161T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	161	Poly-Ala.|VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCCGCCGCGGCGTCCAGCACC	0.716										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(481-483)Gcc>Acc		collagen, type XXII, alpha 1							9.0	12.0	11.0					8																	139890170		2172	4239	6411	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139890170C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.481G>A	8.37:g.139890170C>T	ENSP00000303153:p.Ala161Thr	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.A161T	p.A161T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		3	927	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		161			Poly-Ala.|VWFA.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.481G>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.868949	0.72065	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	T;T	0.80214	-1.35;-1.35	5.3	5.3	0.74995	von Willebrand factor, type A (3);	0.283582	0.24727	N	0.036088	D	0.86863	0.6035	M	0.79693	2.465	0.26563	N	0.973692	D	0.67145	0.996	P	0.55965	0.788	T	0.82043	-0.0653	9	.	.	.	.	13.0527	0.58964	0.0:0.727:0.273:0.0	.	161	Q8NFW1	COMA1_HUMAN	T	161	ENSP00000303153:A161T;ENSP00000387655:A161T	.	A	-	1	0	COL22A1	139959352	0.996000	0.38824	0.927000	0.36925	0.876000	0.50452	2.403000	0.44530	2.446000	0.82766	0.655000	0.94253	GCC		0.716	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		11	72	0	0	0	1	0	11	72				
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	T	C	rs201078380		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:12501446T>C	ENST00000430385.3	-	4	1966	c.1766A>G	c.(1765-1767)gAa>gGa	p.E589G	ZNF799_ENST00000419318.1_Missense_Mutation_p.E557G|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	589					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413													T|||	1	0.000199681	0.0	0.0	5008	,	,		22235	0.0		0.0	False		,,,				2504	0.001					ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(1669-1671)gAa>gGa		zinc finger protein 799							71.0	74.0	73.0					19																	12501446		2202	4278	6480	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12501446T>C	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1766A>G	19.37:g.12501446T>C	ENSP00000411084:p.Glu589Gly					ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G|CTD-3105H18.14_ENST00000435033.1_Intron	p.E557G			Q96GE5	ZN799_HUMAN			4	2419	-			589						Missense_Mutation	SNP	ENST00000430385.3	37	c.1670A>G	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	T	10.35	1.326777	0.24080	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.22743	1.94;1.94	1.27	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26629	0.0651	L	0.45228	1.405	0.09310	N	1	P	0.42692	0.787	P	0.53760	0.734	T	0.11446	-1.0587	9	0.49607	T	0.09	.	5.3684	0.16127	0.0:0.0:0.2914:0.7086	.	589	Q96GE5	ZN799_HUMAN	G	557;589	ENSP00000415278:E557G;ENSP00000411084:E589G	ENSP00000415278:E557G	E	-	2	0	ZNF799	12362446	0.000000	0.05858	0.018000	0.16275	0.046000	0.14306	-0.655000	0.05348	0.842000	0.35045	0.347000	0.21830	GAA		0.413	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		7	400	0	0	0	1	0	7	400				
PAX4	5078	broad.mit.edu	37	7	127255484	127255484	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr7:127255484G>A	ENST00000341640.2	-	1	296	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	PAX4_ENST00000463946.1_5'UTR|PAX4_ENST00000378740.2_Missense_Mutation_p.R31W|PAX4_ENST00000338516.3_Missense_Mutation_p.R39W	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	39	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.R31W(1)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TCACAGGGCCGCATTCCACTG	0.582																																					Ovarian(113;737 1605 7858 27720 34092)	ENST00000341640.2																			1	Substitution - Missense(1)	p.R31W(1)	cervix(1)	cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(91-93)Cgg>Tgg		paired box 4							94.0	95.0	95.0					7																	127255484		2203	4300	6503	SO:0001583	missense	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127255484G>A		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.91C>T	7.37:g.127255484G>A	ENSP00000339906:p.Arg31Trp					PAX4_ENST00000338516.3_Missense_Mutation_p.R39W|PAX4_ENST00000378740.2_Missense_Mutation_p.R31W|PAX4_ENST00000463946.1_5'UTR	p.R31W	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN			1	296	-			39			Paired.		O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	c.91C>T	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	G	32	5.148510	0.94603	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740	D;D	0.99680	-6.38;-6.38	5.73	5.73	0.89815	Paired box protein, N-terminal (5);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99768	0.9905	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97395	0.9992	10	0.87932	D	0	.	17.4002	0.87458	0.0:0.0:1.0:0.0	.	31;39	O43316-4;O43316	.;PAX4_HUMAN	W	31;39;39	ENSP00000339906:R31W;ENSP00000344297:R39W	ENSP00000344297:R39W	R	-	1	2	PAX4	127042720	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	3.065000	0.49994	2.693000	0.91896	0.655000	0.94253	CGG		0.582	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			6	444	0	0	0	1	0	6	444				
CSGALNACT1	55790	broad.mit.edu	37	8	19316053	19316053	+	Silent	SNP	G	G	A	rs142456632	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr8:19316053G>A	ENST00000454498.2	-	5	1748	c.735C>T	c.(733-735)ttC>ttT	p.F245F	CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000311540.4_Silent_p.F245F|CSGALNACT1_ENST00000544602.1_Silent_p.F245F|CSGALNACT1_ENST00000332246.6_Silent_p.F245F|CSGALNACT1_ENST00000522854.1_Silent_p.F245F	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	245					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		TGATGGGGCCGAATGGTCGAA	0.458																																						ENST00000454498.2																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(733-735)ttC>ttT		chondroitin sulfate N-acetylgalactosaminyltransferase 1		G	,	1,4405	2.1+/-5.4	0,1,2202	320.0	295.0	303.0		735,735	-2.9	0.8	8	dbSNP_134	303	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous,coding-synonymous	CSGALNACT1	NM_001130518.1,NM_018371.4	,	0,13,6490	AA,AG,GG		0.1395,0.0227,0.1	,	245/533,245/533	19316053	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	55790				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	g.chr8:19316053G>A	AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.735C>T	8.37:g.19316053G>A						CSGALNACT1_ENST00000522854.1_Silent_p.F245F|CSGALNACT1_ENST00000332246.6_Silent_p.F245F|CSGALNACT1_ENST00000544602.1_Silent_p.F245F|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000311540.4_Silent_p.F245F	p.F245F	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN		Colorectal(111;0.182)	5	1748	-			245					B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Silent	SNP	ENST00000454498.2	37	c.735C>T	CCDS6010.1																																																																																				0.458	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371		7	879	0	0	0	1	0	7	879				
KDM1B	221656	broad.mit.edu	37	6	18171668	18171668	+	Silent	SNP	C	C	T			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr6:18171668C>T	ENST00000297792.5	+	7	669	c.492C>T	c.(490-492)gcC>gcT	p.A164A	KDM1B_ENST00000388870.2_Silent_p.A164A|KDM1B_ENST00000397244.1_Silent_p.A164A|KDM1B_ENST00000546309.2_Intron			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	164					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						CACAGATAGCCAAGACTTATC	0.363																																						ENST00000388870.2																			0				breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						c.(490-492)gcC>gcT		lysine (K)-specific demethylase 1B							229.0	210.0	216.0					6																	18171668		2203	4300	6503	SO:0001819	synonymous_variant	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18171668C>T	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.492C>T	6.37:g.18171668C>T						KDM1B_ENST00000297792.5_Silent_p.A164A|KDM1B_ENST00000397244.1_Silent_p.A164A|KDM1B_ENST00000546309.2_Intron	p.A164A			Q8NB78	KDM1B_HUMAN			7	733	+			164					A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Silent	SNP	ENST00000297792.5	37	c.492C>T	CCDS34343.1																																																																																				0.363	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042		14	287	0	0	0	1	0	14	287				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	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.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		5	292	0	0	0	1	0	5	292				
C3orf27	23434	broad.mit.edu	37	3	128292432	128292432	+	Silent	SNP	C	C	T			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr3:128292432C>T	ENST00000356020.2	-	3	1107	c.141G>A	c.(139-141)aaG>aaA	p.K47K		NM_007354.2	NP_031380.1	O15544	GR6_HUMAN	chromosome 3 open reading frame 27	47										large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		TGCCTAGAAGCTTCCAACCAC	0.627																																						ENST00000356020.2																			0				large_intestine(2)|lung(5)|prostate(1)	8						c.(139-141)aaG>aaA		chromosome 3 open reading frame 27							43.0	47.0	45.0					3																	128292432		2203	4300	6503	SO:0001819	synonymous_variant	23434							g.chr3:128292432C>T	AF008192	CCDS3050.1	3q21	2005-12-19			ENSG00000198685	ENSG00000198685			17099	protein-coding gene	gene with protein product						9307271	Standard	NR_125802		Approved	GR6	uc003ekq.3	O15544	OTTHUMG00000159688	ENST00000356020.2:c.141G>A	3.37:g.128292432C>T							p.K47K	NM_007354.2	NP_031380.1	O15544	GR6_HUMAN		GBM - Glioblastoma multiforme(114;0.176)	3	1107	-			47						Silent	SNP	ENST00000356020.2	37	c.141G>A	CCDS3050.1																																																																																				0.627	C3orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356924.1	NM_007354		35	210	0	0	0	1	0	35	210				
OR8H2	390151	broad.mit.edu	37	11	55873025	55873025	+	Silent	SNP	C	C	T	rs576066178|rs386753744		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr11:55873025C>T	ENST00000313503.1	+	1	507	c.507C>T	c.(505-507)taC>taT	p.Y169Y		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	169			Y -> C (in dbSNP:rs2449148).			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)					TGCATTTCTACGACTCAAACG	0.423										HNSCC(53;0.14)			c|||	1	0.000199681	0.0	0.0	5008	,	,		21003	0.0		0.0	False		,,,				2504	0.001					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.(505-507)taC>taT		olfactory receptor, family 8, subfamily H, member 2							256.0	230.0	239.0					11																	55873025		2201	4296	6497	SO:0001819	synonymous_variant	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55873025C>T	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.507C>T	11.37:g.55873025C>T		HNSCC(53;0.14)					p.Y169Y	NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN			1	507	+	Esophageal squamous(21;0.00693)		169		Y -> C (in dbSNP:rs2449148).			Q6IFC1	Silent	SNP	ENST00000313503.1	37	c.507C>T	CCDS31518.1																																																																																				0.423	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		6	715	0	0	0	1	0	6	715				
FAM155A	728215	broad.mit.edu	37	13	108518712	108518712	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr13:108518712T>C	ENST00000375915.2	-	1	371	c.233A>G	c.(232-234)cAg>cGg	p.Q78R		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	78	Poly-Gln.					integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgctgctgctgccgctgctg	0.677																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(232-234)cAg>cGg		family with sequence similarity 155, member A							21.0	27.0	25.0					13																	108518712		2172	4247	6419	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518712T>C	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.233A>G	13.37:g.108518712T>C	ENSP00000365080:p.Gln78Arg						p.Q78R	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	371	-			78			Poly-Gln.		B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.233A>G	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	T	7.683	0.689395	0.14973	.	.	ENSG00000204442	ENST00000375915	T	0.52983	0.64	4.65	4.65	0.58169	Armadillo-like helical (1);	0.000000	0.36519	N	0.002547	T	0.52996	0.1769	L	0.42245	1.32	0.27179	N	0.960711	D	0.57899	0.981	D	0.67900	0.954	T	0.44065	-0.9352	10	0.07030	T	0.85	.	12.0726	0.53626	0.0:0.0:0.0:1.0	.	78	B1AL88	F155A_HUMAN	R	78	ENSP00000365080:Q78R	ENSP00000365080:Q78R	Q	-	2	0	FAM155A	107316713	1.000000	0.71417	1.000000	0.80357	0.463000	0.32649	1.463000	0.35277	1.745000	0.51790	0.254000	0.18369	CAG		0.677	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		6	252	0	0	0	1	0	6	252				
DISP1	84976	broad.mit.edu	37	1	223176649	223176649	+	Missense_Mutation	SNP	C	C	T	rs148231227		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:223176649C>T	ENST00000284476.6	+	8	2074	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	637	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.A637V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GGGGTTTATGCGGGGACAGCT	0.448													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21104	0.0		0.0	False		,,,				2504	0.0					ENST00000284476.6																			1	Substitution - Missense(1)	p.A637V(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(1909-1911)gCg>gTg		dispatched homolog 1 (Drosophila)							117.0	107.0	111.0					1																	223176649		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223176649C>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1910C>T	1.37:g.223176649C>T	ENSP00000284476:p.Ala637Val						p.A637V	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	2074	+			637			SSD.		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.1910C>T	CCDS1536.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.67	2.902435	0.52227	.	.	ENSG00000154309	ENST00000284476	D	0.90900	-2.75	5.91	5.91	0.95273	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.95284	0.8470	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.94353	0.7581	10	0.49607	T	0.09	-33.4464	20.2983	0.98569	0.0:1.0:0.0:0.0	.	637	Q96F81	DISP1_HUMAN	V	637	ENSP00000284476:A637V	ENSP00000284476:A637V	A	+	2	0	DISP1	221243272	1.000000	0.71417	0.564000	0.28396	0.121000	0.20230	7.818000	0.86416	2.802000	0.96397	0.655000	0.94253	GCG		0.448	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		7	842	0	0	0	1	0	7	842				
CDK5RAP1	51654	broad.mit.edu	37	20	31984682	31984682	+	Silent	SNP	C	C	T			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr20:31984682C>T	ENST00000357886.4	-	2	342	c.189G>A	c.(187-189)ccG>ccA	p.P63P	CDK5RAP1_ENST00000346416.2_Silent_p.P63P|CDK5RAP1_ENST00000544843.1_Silent_p.P63P|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000339269.5_Silent_p.P63P|CDK5RAP1_ENST00000477105.1_Intron			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	63	CDK5 activation inhibition.				brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GTTGAAAAGTCGGTCCAGCAG	0.517																																						ENST00000357886.4																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						c.(187-189)ccG>ccA		CDK5 regulatory subunit associated protein 1							79.0	80.0	79.0					20																	31984682		2203	4300	6503	SO:0001819	synonymous_variant	51654				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	g.chr20:31984682C>T	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.189G>A	20.37:g.31984682C>T						CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000544843.1_Silent_p.P63P|CDK5RAP1_ENST00000452723.3_5'UTR|CDK5RAP1_ENST00000346416.2_Silent_p.P63P|CDK5RAP1_ENST00000339269.5_Silent_p.P63P	p.P63P			Q96SZ6	CK5P1_HUMAN			2	342	-			63			CDK5 activation inhibition.		A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Silent	SNP	ENST00000357886.4	37	c.189G>A																																																																																					0.517	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		65	328	0	0	0	1	0	65	328				
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	lincRNA	SNP	C	C	G			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	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			5	573	0	0	0	1	0	5	573				
DNMT3B	1789	broad.mit.edu	37	20	31388677	31388677	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr20:31388677G>A	ENST00000328111.2	+	18	2263	c.1942G>A	c.(1942-1944)Gga>Aga	p.G648R	DNMT3B_ENST00000344505.4_Missense_Mutation_p.G628R|DNMT3B_ENST00000201963.3_Missense_Mutation_p.G640R|DNMT3B_ENST00000348286.2_Missense_Mutation_p.G628R|DNMT3B_ENST00000353855.2_Missense_Mutation_p.G628R|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000443239.3_Missense_Mutation_p.G586R|DNMT3B_ENST00000456297.2_Missense_Mutation_p.G552R	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	648	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|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)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTGATTGGCGGAAGCCCATG	0.522																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1942-1944)Gga>Aga		DNA (cytosine-5-)-methyltransferase 3 beta							185.0	187.0	186.0					20																	31388677		2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31388677G>A		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1942G>A	20.37:g.31388677G>A	ENSP00000328547:p.Gly648Arg					DNMT3B_ENST00000344505.4_Missense_Mutation_p.G628R|DNMT3B_ENST00000201963.3_Missense_Mutation_p.G640R|DNMT3B_ENST00000456297.2_Missense_Mutation_p.G552R|DNMT3B_ENST00000348286.2_Missense_Mutation_p.G628R|DNMT3B_ENST00000443239.3_Missense_Mutation_p.G586R|DNMT3B_ENST00000353855.2_Missense_Mutation_p.G628R|DNMT3B_ENST00000375623.4_3'UTR	p.G648R	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			18	2263	+			648					A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.1942G>A	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	G	36	5.691842	0.96793	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	D;D;D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.98172	0.9396	H	0.97635	4.045	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.996;0.988;1.0;0.997;1.0;1.0	D	0.98850	1.0758	10	0.87932	D	0	-22.4387	19.2231	0.93806	0.0:0.0:1.0:0.0	.	552;586;347;640;628;628;648	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	R	648;628;628;586;552;628;640	ENSP00000328547:G648R;ENSP00000313397:G628R;ENSP00000337764:G628R;ENSP00000403169:G586R;ENSP00000412305:G552R;ENSP00000345105:G628R;ENSP00000201963:G640R	ENSP00000201963:G640R	G	+	1	0	DNMT3B	30852338	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.779000	0.99018	2.885000	0.99019	0.655000	0.94253	GGA		0.522	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		6	884	0	0	0	1	0	6	884				
SLC25A10	1468	broad.mit.edu	37	17	79682550	79682550	+	Missense_Mutation	SNP	C	C	T	rs199824906		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr17:79682550C>T	ENST00000350690.5	+	3	342	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	SLC25A10_ENST00000541223.1_Missense_Mutation_p.R241W|SLC25A10_ENST00000571730.1_Missense_Mutation_p.R241W|SLC25A10_ENST00000545862.1_Missense_Mutation_p.R43W|SLC25A10_ENST00000331531.5_Missense_Mutation_p.R86W	NM_001270953.1|NM_012140.4	NP_001257882.1|NP_036272.2	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	86					carbohydrate metabolic process (GO:0005975)|cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid transport (GO:0006835)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|ion transport (GO:0006811)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	dicarboxylic acid transmembrane transporter activity (GO:0005310)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	CGAGACTGTGCGGGACCGTGT	0.697													C|||	1	0.000199681	0.0	0.0	5008	,	,		14954	0.0		0.001	False		,,,				2504	0.0					ENST00000331531.5																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14						c.(256-258)Cgg>Tgg		solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	Succinic acid(DB00139)						136.0	141.0	139.0					17																	79682550		2203	4299	6502	SO:0001583	missense	1468				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding	g.chr17:79682550C>T		CCDS11786.1, CCDS59301.1, CCDS74176.1	17q25.3	2013-07-15			ENSG00000183048	ENSG00000183048		"""Solute carriers"""	10980	protein-coding gene	gene with protein product		606794		DIC		9733776, 10072589	Standard	NM_001270953		Approved		uc031rew.1	Q9UBX3	OTTHUMG00000178173	ENST00000350690.5:c.256C>T	17.37:g.79682550C>T	ENSP00000345580:p.Arg86Trp					SLC25A10_ENST00000571730.1_Missense_Mutation_p.R241W|SLC25A10_ENST00000350690.5_Missense_Mutation_p.R86W|SLC25A10_ENST00000541223.1_Missense_Mutation_p.R241W|SLC25A10_ENST00000545862.1_Missense_Mutation_p.R43W	p.R86W	NM_001270888.1	NP_001257817.1	Q9UBX3	DIC_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		3	376	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		86					Q542Z3|Q96BA1|Q96IP1	Missense_Mutation	SNP	ENST00000350690.5	37	c.256C>T	CCDS11786.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.01	3.002726	0.54254	.	.	ENSG00000183048	ENST00000541223;ENST00000331531;ENST00000350690;ENST00000545862	T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34	3.88	2.81	0.32909	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.89670	0.6782	M	0.90759	3.145	0.52099	D	0.999945	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.73708	0.981;0.963;0.978	D	0.90751	0.4657	10	0.87932	D	0	-20.6762	10.4438	0.44481	0.3778:0.6221:0.0:0.0	.	241;86;86	B4DLN1;Q9UBX3-2;Q9UBX3	.;.;DIC_HUMAN	W	241;86;86;43	ENSP00000439565:R241W;ENSP00000328403:R86W;ENSP00000345580:R86W;ENSP00000446242:R43W	ENSP00000328403:R86W	R	+	1	2	SLC25A10	77292955	0.997000	0.39634	0.998000	0.56505	0.506000	0.33950	0.948000	0.29096	1.731000	0.51592	0.313000	0.20887	CGG		0.697	SLC25A10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000440816.1			8	1088	0	0	0	1	0	8	1088				
NDST1	3340	broad.mit.edu	37	5	149907823	149907823	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr5:149907823G>A	ENST00000261797.6	+	3	1473	c.971G>A	c.(970-972)gGc>gAc	p.G324D	NDST1_ENST00000523767.1_Missense_Mutation_p.G324D	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	324	Heparan sulfate N-deacetylase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCTTCGTGGGCAAGGAGGGC	0.612																																						ENST00000261797.6																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34						c.(970-972)gGc>gAc		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1							79.0	72.0	75.0					5																	149907823		2203	4300	6503	SO:0001583	missense	3340				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr5:149907823G>A	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.971G>A	5.37:g.149907823G>A	ENSP00000261797:p.Gly324Asp					NDST1_ENST00000523767.1_Missense_Mutation_p.G324D	p.G324D	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	1473	+		all_hematologic(541;0.224)	324			Heparan sulfate N-deacetylase 1.		Q96E57	Missense_Mutation	SNP	ENST00000261797.6	37	c.971G>A	CCDS34277.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956426	0.92726	.	.	ENSG00000070614	ENST00000523767;ENST00000261797	T;T	0.56103	0.48;0.75	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.79997	0.4543	M	0.92367	3.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.85347	0.1099	10	0.87932	D	0	.	18.7565	0.91835	0.0:0.0:1.0:0.0	.	324;324;324	E7EVJ3;P52848-2;P52848	.;.;NDST1_HUMAN	D	324	ENSP00000428604:G324D;ENSP00000261797:G324D	ENSP00000261797:G324D	G	+	2	0	NDST1	149888016	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	9.676000	0.98643	2.494000	0.84150	0.555000	0.69702	GGC		0.612	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543		5	345	0	0	0	1	0	5	345				
DGKI	9162	broad.mit.edu	37	7	137148251	137148251	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr7:137148251G>A	ENST00000288490.5	-	28	2743	c.2743C>T	c.(2743-2745)Cac>Tac	p.H915Y	DGKI_ENST00000424189.2_Missense_Mutation_p.H928Y|DGKI_ENST00000453654.2_Intron|DGKI_ENST00000446122.1_Missense_Mutation_p.H897Y	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	915					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ACGCGGGAGTGGCTGAGATCT	0.537																																						ENST00000424189.2																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(2782-2784)Cac>Tac		diacylglycerol kinase, iota							117.0	105.0	109.0					7																	137148251		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137148251G>A	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2743C>T	7.37:g.137148251G>A	ENSP00000288490:p.His915Tyr					DGKI_ENST00000288490.5_Missense_Mutation_p.H915Y|DGKI_ENST00000453654.1_Intron|DGKI_ENST00000446122.1_Missense_Mutation_p.H897Y	p.H928Y			O75912	DGKI_HUMAN			28	3011	-			915					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.2782C>T	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617440	0.46736	.	.	ENSG00000157680	ENST00000424189;ENST00000288490;ENST00000446122	T;T	0.34472	1.36;1.56	5.91	5.91	0.95273	.	1.734970	0.02527	N	0.093160	T	0.28300	0.0699	N	0.08118	0	0.42635	D	0.993395	B	0.27882	0.192	B	0.19666	0.026	T	0.07635	-1.0762	10	0.23302	T	0.38	.	18.4769	0.90797	0.0:0.0:1.0:0.0	.	915	O75912	DGKI_HUMAN	Y	918;915;897	ENSP00000288490:H915Y;ENSP00000399131:H897Y	ENSP00000288490:H915Y	H	-	1	0	DGKI	136798791	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.461000	0.60115	2.813000	0.96785	0.655000	0.94253	CAC		0.537	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		46	226	0	0	0	1	0	46	226				
CA6	765	broad.mit.edu	37	1	9011714	9011714	+	Intron	SNP	C	C	T			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:9011714C>T	ENST00000377443.2	+	2	263				CA6_ENST00000476083.1_Intron|CA6_ENST00000377436.3_Intron|CA6_ENST00000377442.2_Intron|CA6_ENST00000480186.3_Silent_p.S164S	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI						bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	Mafenide(DB06795)|Zonisamide(DB00909)	GGGCTTGCAGCGGCTCCCGCC	0.577																																						ENST00000319474.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16						c.(490-492)agC>agT		carbonic anhydrase VI							42.0	43.0	43.0					1																	9011714		876	1991	2867	SO:0001627	intron_variant	765				one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding	g.chr1:9011714C>T	M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	4.2.1.1	"""Carbonic anhydrases"""	1380	protein-coding gene	gene with protein product		114780				9691177	Standard	NM_001215		Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377443.2:c.259+2213C>T	1.37:g.9011714C>T						CA6_ENST00000476083.1_Intron|CA6_ENST00000377436.3_Intron|CA6_ENST00000377443.2_Intron|CA6_ENST00000377442.2_Intron	p.S164S			P23280	CAH6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	3	516	+	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	43					E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Silent	SNP	ENST00000377443.2	37	c.492C>T	CCDS30578.1																																																																																				0.577	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000004911.1			13	138	0	0	0	1	0	13	138				
PLEKHA4	57664	broad.mit.edu	37	19	49340735	49340735	+	Missense_Mutation	SNP	C	C	G			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:49340735C>G	ENST00000263265.6	-	20	2706	c.2151G>C	c.(2149-2151)gaG>gaC	p.E717D	PLEKHA4_ENST00000355496.5_3'UTR|HSD17B14_ENST00000599157.1_5'Flank|HSD17B14_ENST00000263278.4_5'Flank	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	717						cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GGGGAGGGGTCTCCTGGCGCG	0.672																																						ENST00000263265.6																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30						c.(2149-2151)gaG>gaC		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4							29.0	37.0	34.0					19																	49340735		2200	4300	6500	SO:0001583	missense	0					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49340735C>G	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.2151G>C	19.37:g.49340735C>G	ENSP00000263265:p.Glu717Asp					PLEKHA4_ENST00000355496.5_3'UTR	p.E717D	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	20	2706	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	717					Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	37	c.2151G>C	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	c	12.76	2.035882	0.35893	.	.	ENSG00000105559	ENST00000263265	T	0.08370	3.1	4.1	0.204	0.15199	.	1.664920	0.03742	N	0.255152	T	0.05181	0.0138	N	0.08118	0	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.39583	-0.9607	10	0.39692	T	0.17	.	6.9353	0.24463	0.1931:0.4688:0.3382:0.0	.	717	Q9H4M7	PKHA4_HUMAN	D	717	ENSP00000263265:E717D	ENSP00000263265:E717D	E	-	3	2	PLEKHA4	54032547	0.000000	0.05858	0.000000	0.03702	0.287000	0.27160	-0.065000	0.11617	0.057000	0.16193	0.299000	0.19835	GAG		0.672	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			5	322	0	0	0	1	0	5	322				
SH3PXD2A	9644	broad.mit.edu	37	10	105363099	105363099	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr10:105363099G>A	ENST00000369774.4	-	15	2152	c.1876C>T	c.(1876-1878)Cgg>Tgg	p.R626W	SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R598W|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R461W|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R493W|SH3PXD2A_ENST00000427662.2_Intron			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	626					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GCATATGGCCGGAAGCCCTCA	0.622																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(1876-1878)Cgg>Tgg		SH3 and PX domains 2A							78.0	85.0	83.0					10																	105363099		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105363099G>A	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.1876C>T	10.37:g.105363099G>A	ENSP00000358789:p.Arg626Trp					SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R598W|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R493W|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R461W	p.R626W			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	2152	-		Colorectal(252;0.0815)|Breast(234;0.131)	626					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.1876C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.97|15.97	2.990608|2.990608	0.54041|0.54041	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000420222|ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	.|T;T;T;T	.|0.65916	.|-0.09;-0.18;0.02;-0.18	5.42|5.42	2.32|2.32	0.28847|0.28847	.|.	.|0.137701	.|0.64402	.|D	.|0.000007	T|T	0.72771|0.72771	0.3502|0.3502	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999994|0.999994	.|D;D;D;D	.|0.76494	.|0.998;0.998;0.998;0.999	.|P;P;P;D	.|0.65443	.|0.863;0.863;0.863;0.935	T|T	0.74287|0.74287	-0.3714|-0.3714	5|10	.|0.72032	.|D	.|0.01	-25.2151|-25.2151	15.2853|15.2853	0.73822|0.73822	0.0:0.0:0.3321:0.6679|0.0:0.0:0.3321:0.6679	.|.	.|626;475;471;598	.|Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3	.|SPD2A_HUMAN;.;.;.	L|W	552|626;598;433;541;493;461	.|ENSP00000358789:R626W;ENSP00000348215:R598W;ENSP00000443663:R493W;ENSP00000441514:R461W	.|ENSP00000318135:R433W	P|R	-|-	2|1	0|2	SH3PXD2A|SH3PXD2A	105353089|105353089	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.972000|0.972000	0.66771|0.66771	1.336000|1.336000	0.33850|0.33850	0.168000|0.168000	0.19655|0.19655	0.561000|0.561000	0.74099|0.74099	CCG|CGG		0.622	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		5	697	0	0	0	1	0	5	697				
BPIFB2	80341	broad.mit.edu	37	20	31600712	31600712	+	Splice_Site	SNP	C	C	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr20:31600712C>A	ENST00000170150.3	+	4	502	c.307C>A	c.(307-309)Cgc>Agc	p.R103S		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	103						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										CAAGGTCTTTCGGTGAGCGGA	0.562																																						ENST00000170150.3																			0											c.e4+1		BPI fold containing family B, member 2							99.0	96.0	97.0					20																	31600712		2203	4300	6503	SO:0001630	splice_region_variant	80341					extracellular region	lipid binding	g.chr20:31600712C>A	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.308+1C>A	20.37:g.31600712C>A							p.R103_splice	NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN			4	502	+			103					Q6UWN3|Q6ZME0|Q8NFQ7	Splice_Site	SNP	ENST00000170150.3	37	c.308_splice	CCDS13210.1	.	.	.	.	.	.	.	.	.	.	C	8.281	0.815585	0.16607	.	.	ENSG00000078898	ENST00000170150	T	0.05199	3.48	4.5	1.47	0.22746	.	1.037060	0.07697	N	0.939607	T	0.04770	0.0129	N	0.20986	0.625	0.31735	N	0.636493	B	0.24368	0.102	B	0.28638	0.092	T	0.40572	-0.9556	10	0.28530	T	0.3	-1.5689	3.6958	0.08364	0.1945:0.5998:0.0:0.2057	.	103	Q8N4F0	BPIB2_HUMAN	S	103	ENSP00000170150:R103S	ENSP00000170150:R103S	R	+	1	0	BPIFB2	31064373	0.004000	0.15560	0.961000	0.40146	0.092000	0.18411	-0.790000	0.04604	0.615000	0.30124	-0.140000	0.14226	CGC		0.562	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227	Missense_Mutation	5	495	1	0	0.184627	1	0.185781	5	495				
ATP4A	495	broad.mit.edu	37	19	36051809	36051809	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:36051809G>A	ENST00000262623.3	-	5	474	c.446C>T	c.(445-447)gCt>gTt	p.A149V		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	149					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GACAACCACAGCAATGAGAGC	0.587																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(445-447)gCt>gTt		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						132.0	114.0	120.0					19																	36051809		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36051809G>A		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.446C>T	19.37:g.36051809G>A	ENSP00000262623:p.Ala149Val						p.A149V	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		5	474	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		149					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.446C>T	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	g	14.83	2.651116	0.47362	.	.	ENSG00000105675	ENST00000262623	D	0.90563	-2.69	3.22	3.22	0.36961	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000018	T	0.81735	0.4885	N	0.17838	0.53	0.58432	D	0.999991	B	0.19445	0.036	B	0.27796	0.083	T	0.73704	-0.3899	10	0.10377	T	0.69	.	11.9305	0.52843	0.0:0.0:1.0:0.0	.	149	P20648	ATP4A_HUMAN	V	149	ENSP00000262623:A149V	ENSP00000262623:A149V	A	-	2	0	ATP4A	40743649	0.998000	0.40836	0.990000	0.47175	0.830000	0.47004	4.954000	0.63631	1.620000	0.50308	0.197000	0.17608	GCT		0.587	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		5	387	0	0	0	1	0	5	387				
NSD1	64324	broad.mit.edu	37	5	176562876	176562876	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr5:176562876T>C	ENST00000439151.2	+	2	817	c.772T>C	c.(772-774)Ttt>Ctt	p.F258L	NSD1_ENST00000347982.4_Intron|NSD1_ENST00000511258.1_Intron|NSD1_ENST00000361032.4_Missense_Mutation_p.F258L|NSD1_ENST00000354179.4_Intron	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	258					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)			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)		CCCAGCCCCCTTTTCACTAGG	0.398			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		0				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.(772-774)Ttt>Ctt		nuclear receptor binding SET domain protein 1							65.0	66.0	66.0					5																	176562876		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.chr5:176562876T>C	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.772T>C	5.37:g.176562876T>C	ENSP00000395929:p.Phe258Leu	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Missense_Mutation_p.F258L|NSD1_ENST00000354179.4_Intron|NSD1_ENST00000511258.1_Intron|NSD1_ENST00000347982.4_Intron	p.F258L	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)	2	817	+	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)	258					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.772T>C	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	T	10.18	1.279763	0.23392	.	.	ENSG00000165671	ENST00000439151;ENST00000361032	D;D	0.91894	-2.88;-2.93	5.19	-5.9	0.02275	.	1.381160	0.04666	N	0.409818	T	0.78168	0.4241	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.73186	-0.4062	10	0.02654	T	1	.	8.739	0.34545	0.1295:0.5528:0.0:0.3177	.	258;258;258	Q96L73-3;Q96L73;Q6PJ64	.;NSD1_HUMAN;.	L	258	ENSP00000395929:F258L;ENSP00000354310:F258L	ENSP00000354310:F258L	F	+	1	0	NSD1	176495482	0.081000	0.21417	0.005000	0.12908	0.925000	0.55904	-0.248000	0.08854	-1.356000	0.02183	-0.250000	0.11733	TTT		0.398	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		4	267	0	0	0	1	0	4	267				
OPLAH	26873	broad.mit.edu	37	8	145109606	145109606	+	Silent	SNP	G	G	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr8:145109606G>A	ENST00000426825.1	-	19	2625	c.2544C>T	c.(2542-2544)ttC>ttT	p.F848F	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	848					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGCCACATAGAACACAGGCC	0.667																																						ENST00000426825.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(2542-2544)ttC>ttT		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						38.0	46.0	44.0					8																	145109606		2134	4232	6366	SO:0001819	synonymous_variant	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145109606G>A	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.2544C>T	8.37:g.145109606G>A						OPLAH_ENST00000534424.1_5'UTR	p.F848F	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		19	2625	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		848					A5PKY8|Q75W65|Q9Y4Q0	Silent	SNP	ENST00000426825.1	37	c.2544C>T																																																																																					0.667	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		29	203	0	0	0	1	0	29	203				
SLC34A3	142680	broad.mit.edu	37	9	140130438	140130438	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr9:140130438G>A	ENST00000538474.1	+	13	1594	c.1370G>A	c.(1369-1371)gGc>gAc	p.G457D	SLC34A3_ENST00000361134.2_Missense_Mutation_p.G457D	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	457					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		AACCTGGCCGGCATCCTGCTG	0.711											OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000538474.1																			0				kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1369-1371)gGc>gAc		solute carrier family 34 (type II sodium/phosphate contransporter), member 3							58.0	56.0	56.0					9																	140130438		2201	4294	6495	SO:0001583	missense	142680				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr9:140130438G>A	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"""Solute carriers"""	20305	protein-coding gene	gene with protein product		609826	"""solute carrier family 34 (sodium phosphate), member 3"""			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.1370G>A	9.37:g.140130438G>A	ENSP00000442397:p.Gly457Asp		OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1654	SLC34A3_ENST00000361134.2_Missense_Mutation_p.G457D	p.G457D	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	13	1594	+	all_cancers(76;0.0926)		457					A2BFA1	Missense_Mutation	SNP	ENST00000538474.1	37	c.1370G>A	CCDS7038.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898756	0.72639	.	.	ENSG00000198569	ENST00000538474;ENST00000361134	D;D	0.92858	-3.12;-3.12	4.11	4.11	0.48088	.	0.101834	0.41097	D	0.000960	D	0.96706	0.8925	M	0.92412	3.305	0.51482	D	0.999923	D	0.89917	1.0	D	0.83275	0.996	D	0.97453	1.0029	10	0.87932	D	0	-19.2077	14.2126	0.65773	0.0:0.0:1.0:0.0	.	457	Q8N130	NPT2C_HUMAN	D	457	ENSP00000442397:G457D;ENSP00000355353:G457D	ENSP00000355353:G457D	G	+	2	0	SLC34A3	139250259	1.000000	0.71417	0.991000	0.47740	0.656000	0.38851	7.332000	0.79203	2.304000	0.77564	0.407000	0.27541	GGC		0.711	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877		5	487	0	0	0	1	0	5	487				
PRG4	10216	broad.mit.edu	37	1	186276075	186276075	+	Silent	SNP	T	T	C	rs540749159	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:186276075T>C	ENST00000445192.2	+	7	1269	c.1224T>C	c.(1222-1224)acT>acC	p.T408T	PRG4_ENST00000367483.4_Silent_p.T367T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.T365T|PRG4_ENST00000367485.4_Silent_p.T315T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	408	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T408T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACTCCCAAGGAGC	0.662													-|||	16	0.00319489	0.0053	0.0014	5008	,	,		9339	0.001		0.003	False		,,,				2504	0.0041					ENST00000445192.2																			1	Substitution - coding silent(1)	p.T408T(1)	kidney(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1222-1224)acT>acC		proteoglycan 4																																				SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276075T>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1224T>C	1.37:g.186276075T>C						PRG4_ENST00000367483.4_Silent_p.T367T|PRG4_ENST00000367485.4_Silent_p.T315T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.T365T	p.T408T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1269	+			408			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1224T>C	CCDS1369.1																																																																																				0.662	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		16	431	0	0	0	1	0	16	431				
TOX4	9878	broad.mit.edu	37	14	21961062	21961062	+	Silent	SNP	T	T	A	rs571846793		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr14:21961062T>A	ENST00000405508.1	+	8	1563	c.1287T>A	c.(1285-1287)gcT>gcA	p.A429A	TOX4_ENST00000448790.2_Silent_p.A406A|TOX4_ENST00000262709.3_Silent_p.A429A			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	429	Gln/Pro-rich.|Poly-Ala.					chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)	p.A429A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		CAGCAGCAGCTGCTGCTGCTG	0.582													T|||	1	0.000199681	0.0	0.0014	5008	,	,		14814	0.0		0.0	False		,,,				2504	0.0					ENST00000405508.1																			1	Substitution - coding silent(1)	p.A429A(1)	large_intestine(1)	large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1285-1287)gcT>gcA		TOX high mobility group box family member 4							63.0	73.0	70.0					14																	21961062		2201	4298	6499	SO:0001819	synonymous_variant	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21961062T>A	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1287T>A	14.37:g.21961062T>A						TOX4_ENST00000448790.2_Silent_p.A406A|TOX4_ENST00000262709.3_Silent_p.A429A	p.A429A			O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	8	1563	+	all_cancers(95;0.000465)		429			Gln/Pro-rich.|Poly-Ala.		B4DPY8|B4DSM0|E7EV69	Silent	SNP	ENST00000405508.1	37	c.1287T>A	CCDS32043.1																																																																																				0.582	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		10	788	0	0	0	1	0	10	788				
ARRB2	409	broad.mit.edu	37	17	4619828	4619828	+	Silent	SNP	A	A	C			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr17:4619828A>C	ENST00000269260.2	+	5	515	c.282A>C	c.(280-282)ccA>ccC	p.P94P	ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000412477.3_Silent_p.P94P|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000346341.2_Silent_p.P79P|ARRB2_ENST00000381488.6_Silent_p.P79P|ARRB2_ENST00000575877.1_Silent_p.P94P|ARRB2_ENST00000570718.1_3'UTR	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	94					adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						TGCCCAACCCACCCCGGCCCC	0.667																																						ENST00000269260.2																			0				large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						c.(280-282)ccA>ccC		arrestin, beta 2							30.0	25.0	26.0					17																	4619828		2203	4298	6501	SO:0001819	synonymous_variant	409				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding	g.chr17:4619828A>C		CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"""arrestin 3"""	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.282A>C	17.37:g.4619828A>C						ARRB2_ENST00000575877.1_Silent_p.P94P|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000346341.2_Silent_p.P79P|ARRB2_ENST00000412477.3_Silent_p.P94P|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000381488.6_Silent_p.P79P|ARRB2_ENST00000572457.1_5'UTR	p.P94P	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN			5	515	+			94					B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Silent	SNP	ENST00000269260.2	37	c.282A>C	CCDS11050.1																																																																																				0.667	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1	NM_004313		10	66	0	0	0	1	0	10	66				
GPR128	84873	broad.mit.edu	37	3	100365534	100365534	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr3:100365534G>A	ENST00000273352.3	+	10	1500	c.1232G>A	c.(1231-1233)cGc>cAc	p.R411H	SNORA31_ENST00000517180.1_RNA|GPR128_ENST00000475887.1_Missense_Mutation_p.R116H	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	411	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						CTGCGCTGCCGCTGCAACCAT	0.418																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(1231-1233)cGc>cAc		G protein-coupled receptor 128							84.0	87.0	86.0					3																	100365534		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100365534G>A	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1232G>A	3.37:g.100365534G>A	ENSP00000273352:p.Arg411His					GPR128_ENST00000475887.1_Missense_Mutation_p.R116H	p.R411H	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			10	1500	+			411			GPS.		Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.1232G>A	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	G	6.489	0.458386	0.12342	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.68903	-0.36;-0.36	5.2	-5.95	0.02241	GPS domain (3);	1.462570	0.03975	N	0.292354	T	0.42743	0.1216	N	0.05280	-0.08	0.09310	N	1	B;B	0.14012	0.009;0.001	B;B	0.10450	0.005;0.003	T	0.31696	-0.9934	10	0.19590	T	0.45	.	12.4177	0.55502	0.6298:0.0:0.3702:0.0	.	116;411	E9PHI0;Q96K78	.;GP128_HUMAN	H	411;116	ENSP00000273352:R411H;ENSP00000419788:R116H	ENSP00000273352:R411H	R	+	2	0	GPR128	101848224	0.000000	0.05858	0.502000	0.27614	0.494000	0.33585	-1.805000	0.01737	-0.996000	0.03455	-0.940000	0.02684	CGC		0.418	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			5	294	0	0	0	1	0	5	294				
UGT1A10	54575	broad.mit.edu	37	2	234545974	234545974	+	Missense_Mutation	SNP	T	T	G			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr2:234545974T>G	ENST00000344644.5	+	1	875	c.806T>G	c.(805-807)aTg>aGg	p.M269R	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.M269R	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	269					cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	ATGCCCAACATGATCTTCATT	0.433																																						ENST00000344644.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32						c.(805-807)aTg>aGg									217.0	210.0	212.0					2																	234545974		2203	4300	6503	SO:0001583	missense	0							g.chr2:234545974T>G	U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"""UDP glucuronosyltransferases"""	12531	other	complex locus constituent		606435	"""UDP glycosyltransferase 1 family, polypeptide A10"""			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.806T>G	2.37:g.234545974T>G	ENSP00000343838:p.Met269Arg					UGT1A10_ENST00000373445.1_Missense_Mutation_p.M269R|UGT1A8_ENST00000373450.4_Intron	p.M269R	NM_019075.2	NP_061948.1				Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	875	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						O00474|Q6NT91|Q7Z6H8	Missense_Mutation	SNP	ENST00000344644.5	37	c.806T>G	CCDS33403.1	.	.	.	.	.	.	.	.	.	.	T	16.17	3.046766	0.55110	.	.	ENSG00000242515	ENST00000344644;ENST00000373445	T;T	0.61859	0.07;0.07	3.56	3.56	0.40772	.	.	.	.	.	T	0.80869	0.4706	H	0.95816	3.725	0.36481	D	0.867853	D;D	0.61697	0.961;0.99	P;D	0.67725	0.908;0.953	D	0.88685	0.3205	9	0.87932	D	0	.	12.6049	0.56516	0.0:0.0:0.0:1.0	.	269;269	Q9HAW8;Q7Z6H8	UD110_HUMAN;.	R	269	ENSP00000343838:M269R;ENSP00000362544:M269R	ENSP00000343838:M269R	M	+	2	0	UGT1A10	234210713	1.000000	0.71417	0.996000	0.52242	0.924000	0.55760	4.888000	0.63164	1.632000	0.50472	0.333000	0.21579	ATG		0.433	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075		7	1211	0	0	0	1	0	7	1211				
SERHL2	253190	broad.mit.edu	37	22	42971987	42971987	+	IGR	SNP	T	T	C	rs137064	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr22:42971987T>C	ENST00000327678.5	+	0	1374				RRP7B_ENST00000357802.2_RNA	NM_014509.3	NP_055324.2	Q9NQF3	SERHL_HUMAN	serine hydrolase-like 2								hydrolase activity (GO:0016787)	p.Q59R(1)		breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						CAGCTCTTTTTGGCTGCGCTT	0.672													.|||	2207	0.440695	0.6831	0.2277	5008	,	,		16271	0.6845		0.171	False		,,,				2504	0.2904					ENST00000357802.2																			1	Substitution - Missense(1)	p.Q59R(1)	prostate(1)																																														SO:0001628	intergenic_variant	0							g.chr22:42971987T>C		CCDS14037.1, CCDS63498.1	22q13	2005-08-09			ENSG00000183569	ENSG00000183569			29446	protein-coding gene	gene with protein product							Standard	NM_014509		Approved		uc003bcr.3	Q9H4I8	OTTHUMG00000150892		22.37:g.42971987T>C														0	733	-								Q5JZ95|Q9UH21	RNA	SNP	ENST00000327678.5	37		CCDS14037.1																																																																																				0.672	SERHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320454.1	NM_014509		4	123	0	0	0	1	0	4	123				
DIXDC1	85458	broad.mit.edu	37	11	111853203	111853203	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr11:111853203G>A	ENST00000440460.2	+	8	1204	c.907G>A	c.(907-909)Gga>Aga	p.G303R	DIXDC1_ENST00000315253.5_Missense_Mutation_p.G92R|DIXDC1_ENST00000389821.4_3'UTR	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	304					camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		AATGATATCAGGACTACAGGT	0.368																																						ENST00000440460.2																			0				cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17						c.(907-909)Gga>Aga		DIX domain containing 1							69.0	68.0	69.0					11																	111853203		1850	4087	5937	SO:0001583	missense	85458				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity	g.chr11:111853203G>A	AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000440460.2:c.907G>A	11.37:g.111853203G>A	ENSP00000394352:p.Gly303Arg					DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000315253.5_Missense_Mutation_p.G92R	p.G303R	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)	8	1204	+		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	304					A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Missense_Mutation	SNP	ENST00000440460.2	37	c.907G>A		.	.	.	.	.	.	.	.	.	.	G	18.01	3.528320	0.64860	.	.	ENSG00000150764	ENST00000440460;ENST00000315253	T;T	0.19806	2.12;2.12	6.16	6.16	0.99307	.	0.354131	0.36519	N	0.002544	T	0.43612	0.1255	.	.	.	0.54753	D	0.999988	B;D	0.89917	0.05;1.0	B;D	0.76575	0.048;0.988	T	0.01858	-1.1259	9	0.19590	T	0.45	-10.0595	19.4236	0.94732	0.0:0.0:1.0:0.0	.	92;304	E7EQ17;Q155Q3	.;DIXC1_HUMAN	R	303;92	ENSP00000394352:G303R;ENSP00000314068:G92R	ENSP00000314068:G92R	G	+	1	0	DIXDC1	111358413	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.817000	0.62650	2.937000	0.99478	0.650000	0.86243	GGA		0.368	DIXDC1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037954		6	71	0	0	0	1	0	6	71				
KANK1	23189	broad.mit.edu	37	9	732477	732477	+	Silent	SNP	G	G	A	rs569686873|rs370051574		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr9:732477G>A	ENST00000382303.1	+	10	3757	c.3105G>A	c.(3103-3105)gaG>gaA	p.E1035E	KANK1_ENST00000382293.3_Silent_p.E877E|KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1035					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TTGAAGAAGAGGAGGAGGAGG	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		19819	0.0		0.0	False		,,,				2504	0.001					ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(3103-3105)gaG>gaA		KN motif and ankyrin repeat domains 1							153.0	134.0	140.0					9																	732477		2203	4300	6503	SO:0001819	synonymous_variant	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:732477G>A	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3105G>A	9.37:g.732477G>A						KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000382293.3_Silent_p.E877E|KANK1_ENST00000489369.1_3'UTR	p.E1035E	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	10	3757	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1035					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	c.3105G>A	CCDS34976.1																																																																																				0.468	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		5	389	0	0	0	1	0	5	389				
PRODH	5625	broad.mit.edu	37	22	18910340	18910340	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr22:18910340G>A	ENST00000357068.6	-	6	1104	c.839C>T	c.(838-840)gCg>gTg	p.A280V	PRODH_ENST00000420436.1_Missense_Mutation_p.A172V|PRODH_ENST00000334029.2_Missense_Mutation_p.A172V	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	280					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)	FAD binding (GO:0071949)|proline dehydrogenase activity (GO:0004657)			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	CTGCAGCACCGCCACCTCCAG	0.657																																						ENST00000357068.6																			0				breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9						c.(838-840)gCg>gTg		proline dehydrogenase (oxidase) 1	L-Proline(DB00172)						74.0	72.0	73.0					22																	18910340		2203	4300	6503	SO:0001583	missense	5625				glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity	g.chr22:18910340G>A	AF010310	CCDS13754.1, CCDS56223.1	22q11.2	2014-07-10	2001-12-05		ENSG00000100033	ENSG00000100033	1.5.5.2		9453	protein-coding gene	gene with protein product		606810	"""proline dehydrogenase (proline oxidase )"""			9385373, 10192398	Standard	NM_001195226		Approved	HSPOX2, PRODH1, PIG6, PRODH2, TP53I6	uc002zok.4	O43272	OTTHUMG00000150163	ENST00000357068.6:c.839C>T	22.37:g.18910340G>A	ENSP00000349577:p.Ala280Val					PRODH_ENST00000334029.2_Missense_Mutation_p.A172V|PRODH_ENST00000420436.1_Missense_Mutation_p.A172V	p.A280V	NM_016335.4	NP_057419.4	O43272	PROD_HUMAN			6	1104	-			280					A6NF53|O14680|Q0P507|Q147W8|Q504W1|Q59FI8|Q6NV86|Q9UF13	Missense_Mutation	SNP	ENST00000357068.6	37	c.839C>T	CCDS13754.1	.	.	.	.	.	.	.	.	.	.	.	14.79	2.640215	0.47153	.	.	ENSG00000100033	ENST00000357068;ENST00000399694;ENST00000450579	T;T	0.33216	1.42;1.52	4.63	-0.256	0.12984	Proline dehydrogenase (1);	0.318671	0.31554	N	0.007443	T	0.21103	0.0508	L	0.55481	1.735	0.21325	N	0.99972	B;B;B	0.21606	0.01;0.021;0.058	B;B;B	0.17433	0.004;0.008;0.018	T	0.11036	-1.0604	10	0.33141	T	0.24	-6.7007	3.3335	0.07093	0.3008:0.0:0.5184:0.1808	.	196;280;172	O43272-1;O43272;E7EQL6	.;PROD_HUMAN;.	V	280;73;121	ENSP00000349577:A280V;ENSP00000396806:A121V	ENSP00000334726:A172V	A	-	2	0	PRODH	17290340	0.752000	0.28338	0.264000	0.24511	0.723000	0.41478	1.170000	0.31883	0.162000	0.19483	0.638000	0.83543	GCG		0.657	PRODH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316637.2	NM_016335		5	315	0	0	0	1	0	5	315				
DLK1	8788	broad.mit.edu	37	14	101200618	101200618	+	Silent	SNP	C	C	T	rs143814604	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr14:101200618C>T	ENST00000341267.4	+	5	779	c.537C>T	c.(535-537)tgC>tgT	p.C179C	DLK1_ENST00000331224.6_Silent_p.C179C	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	179	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CCAACCCATGCGAGAACGACG	0.657													C|||	2	0.000399361	0.0015	0.0	5008	,	,		14288	0.0		0.0	False		,,,				2504	0.0					ENST00000341267.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29						c.(535-537)tgC>tgT		delta-like 1 homolog (Drosophila)		C		7,4399	12.9+/-30.5	0,7,2196	70.0	73.0	72.0		537	3.5	1.0	14	dbSNP_134	72	0,8600		0,0,4300	no	coding-synonymous	DLK1	NM_003836.5		0,7,6496	TT,TC,CC		0.0,0.1589,0.0538		179/384	101200618	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	8788				multicellular organismal development	extracellular space|integral to membrane|soluble fraction		g.chr14:101200618C>T	U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"""delta-like homolog (Drosophila)"""			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.537C>T	14.37:g.101200618C>T						DLK1_ENST00000331224.6_Silent_p.C179C	p.C179C	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN			5	779	+		Melanoma(154;0.155)	179			EGF-like 5.		P15803|Q96DW5	Silent	SNP	ENST00000341267.4	37	c.537C>T	CCDS9963.1																																																																																				0.657	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1			48	336	0	0	0	1	0	48	336				
NHLH1	4807	broad.mit.edu	37	1	160340909	160340909	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:160340909G>A	ENST00000302101.5	+	2	834	c.388G>A	c.(388-390)Gtg>Atg	p.V130M		NM_005598.3	NP_005589.1	Q02575	HEN1_HUMAN	nescient helix loop helix 1	130					cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTGAACCACGTGCTGGACGT	0.622																																						ENST00000302101.5																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7						c.(388-390)Gtg>Atg		nescient helix loop helix 1							79.0	79.0	79.0					1																	160340909		2203	4300	6503	SO:0001583	missense	4807				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:160340909G>A	BC013789	CCDS1204.1	1q22	2013-05-21			ENSG00000171786	ENSG00000171786		"""Basic helix-loop-helix proteins"""	7817	protein-coding gene	gene with protein product		162360		HEN1			Standard	NM_005598		Approved	NSCL, NSCL1, bHLHa35	uc001fwa.2	Q02575	OTTHUMG00000033121	ENST00000302101.5:c.388G>A	1.37:g.160340909G>A	ENSP00000302189:p.Val130Met						p.V130M	NM_005598.3	NP_005589.1	Q02575	HEN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	834	+	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		130						Missense_Mutation	SNP	ENST00000302101.5	37	c.388G>A	CCDS1204.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857019	0.51376	.	.	ENSG00000171786	ENST00000302101	D	0.88509	-2.39	3.98	3.98	0.46160	Helix-loop-helix DNA-binding (3);	0.000000	0.49305	D	0.000146	T	0.73713	0.3622	L	0.47190	1.495	0.58432	D	0.999997	P	0.41569	0.755	B	0.21360	0.034	T	0.77838	-0.2439	10	0.33940	T	0.23	-29.3292	15.1633	0.72801	0.0:0.0:1.0:0.0	.	130	Q02575	HEN1_HUMAN	M	130	ENSP00000302189:V130M	ENSP00000302189:V130M	V	+	1	0	NHLH1	158607533	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.477000	0.73591	2.215000	0.71742	0.655000	0.94253	GTG		0.622	NHLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080676.1	NM_005598		48	277	0	0	0	1	0	48	277				
LPHN1	22859	broad.mit.edu	37	19	14262129	14262129	+	Silent	SNP	A	A	C			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:14262129A>C	ENST00000340736.6	-	24	4278	c.3981T>G	c.(3979-3981)ggT>ggG	p.G1327G	LPHN1_ENST00000361434.3_Silent_p.G1322G|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1327					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCCGGTCAGCACCCCCGGGCC	0.716																																						ENST00000340736.6																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(3979-3981)ggT>ggG		latrophilin 1							5.0	6.0	6.0					19																	14262129		2111	4119	6230	SO:0001819	synonymous_variant	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14262129A>C	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.3981T>G	19.37:g.14262129A>C						LPHN1_ENST00000361434.3_Silent_p.G1322G|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	p.G1327G	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			24	4278	-			1327					Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	37	c.3981T>G	CCDS32928.1																																																																																				0.716	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		12	57	0	0	0	1	0	12	57				
ALDH3B2	222	broad.mit.edu	37	11	67432919	67432919	+	Silent	SNP	G	G	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr11:67432919G>A	ENST00000349015.3	-	7	981	c.543C>T	c.(541-543)ccC>ccT	p.P181P	ALDH3B2_ENST00000530069.1_Silent_p.P181P|ALDH3B2_ENST00000531881.1_5'Flank	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	181					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						TCTGCAGGGCGGGCAGCAGCC	0.642																																						ENST00000349015.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						c.(541-543)ccC>ccT		aldehyde dehydrogenase 3 family, member B2	NADH(DB00157)						76.0	85.0	82.0					11																	67432919		2200	4294	6494	SO:0001819	synonymous_variant	222				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67432919G>A	U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.543C>T	11.37:g.67432919G>A						ALDH3B2_ENST00000530069.1_Silent_p.P181P	p.P181P	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN			7	981	-			181					Q53Y98|Q8NAL5|Q96IB2	Silent	SNP	ENST00000349015.3	37	c.543C>T	CCDS31622.1																																																																																				0.642	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695		6	707	0	0	0	1	0	6	707				
KRT6B	3854	broad.mit.edu	37	12	52845384	52845384	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr12:52845384C>T	ENST00000252252.3	-	1	526	c.479G>A	c.(478-480)cGg>cAg	p.R160Q		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	160	Head.			VR -> IG (in Ref. 2; AAA59466). {ECO:0000305}.	ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CTCCTCGGCCCGCACCCGCTG	0.597																																						ENST00000252252.3																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40						c.(478-480)cGg>cAg		keratin 6B							53.0	72.0	65.0					12																	52845384		2203	4296	6499	SO:0001583	missense	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52845384C>T	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.479G>A	12.37:g.52845384C>T	ENSP00000252252:p.Arg160Gln						p.R160Q	NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	1	526	-			160	VR -> IG (in Ref. 2; AAA59466).		Head.		P48669	Missense_Mutation	SNP	ENST00000252252.3	37	c.479G>A	CCDS8828.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.606483	0.46527	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.85556	-2.0	3.28	0.429	0.16506	.	0.089287	0.44902	D	0.000418	D	0.88890	0.6560	M	0.94021	3.485	0.32244	N	0.572368	D	0.60160	0.987	P	0.48552	0.581	D	0.88941	0.3380	10	0.87932	D	0	.	8.7904	0.34848	0.0:0.7388:0.0:0.2612	.	160	P04259	K2C6B_HUMAN	Q	160	ENSP00000252252:R160Q	ENSP00000252252:R160Q	R	-	2	0	KRT6B	51131651	0.168000	0.22989	0.024000	0.17045	0.255000	0.26057	0.832000	0.27490	0.094000	0.17404	0.298000	0.19748	CGG		0.597	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		19	509	0	0	0	1	0	19	509				
TP53	7157	broad.mit.edu	37	17	7577090	7577090	+	Missense_Mutation	SNP	C	C	G	rs371409680		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr17:7577090C>G	ENST00000269305.4	-	8	1037	c.848G>C	c.(847-849)cGc>cCc	p.R283P	TP53_ENST00000455263.2_Missense_Mutation_p.R283P|TP53_ENST00000445888.2_Missense_Mutation_p.R283P|TP53_ENST00000420246.2_Missense_Mutation_p.R283P|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R283P|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	283	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R283P(27)|p.R283H(13)|p.0?(8)|p.R283L(4)|p.R283fs*23(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCCTCTGTGCGCCGGTCTCT	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		73	Substitution - Missense(44)|Deletion - Frameshift(9)|Whole gene deletion(8)|Deletion - In frame(7)|Insertion - Frameshift(2)|Unknown(2)|Complex - deletion inframe(1)	p.R283P(27)|p.R283H(13)|p.0?(8)|p.R283L(4)|p.R283fs*23(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)	lung(13)|upper_aerodigestive_tract(10)|urinary_tract(9)|haematopoietic_and_lymphoid_tissue(6)|large_intestine(5)|breast(5)|ovary(4)|bone(4)|stomach(3)|central_nervous_system(3)|oesophagus(3)|pancreas(2)|autonomic_ganglia(2)|liver(2)|cervix(1)|biliary_tract(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM021154	TP53	M		c.(847-849)cGc>cCc	Other conserved DNA damage response genes	tumor protein p53							86.0	73.0	78.0					17																	7577090		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577090C>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.848G>C	17.37:g.7577090C>G	ENSP00000269305:p.Arg283Pro	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.R283P|TP53_ENST00000445888.2_Missense_Mutation_p.R283P|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R283P|TP53_ENST00000269305.4_Missense_Mutation_p.R283P	p.R283P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	980	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	283		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.848G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692626	0.68271	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99804	-6.83;-6.83;-6.83;-6.83;-6.83;-6.83	4.99	4.02	0.46733	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.056377	0.64402	D	0.000003	D	0.99641	0.9868	M	0.78049	2.395	0.28236	N	0.925907	P;D;D;P	0.76494	0.939;0.999;0.977;0.951	P;D;D;D	0.70016	0.889;0.967;0.933;0.933	D	0.98126	1.0428	10	0.87932	D	0	-4.3612	11.3481	0.49573	0.0:0.9114:0.0:0.0886	.	283;283;283;283	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	P	283;283;283;283;283;272;151	ENSP00000352610:R283P;ENSP00000269305:R283P;ENSP00000398846:R283P;ENSP00000391127:R283P;ENSP00000391478:R283P;ENSP00000425104:R151P	ENSP00000269305:R283P	R	-	2	0	TP53	7517815	0.998000	0.40836	0.015000	0.15790	0.873000	0.50193	3.584000	0.53936	1.318000	0.45170	0.462000	0.41574	CGC		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		29	131	0	0	0	1	0	29	131				
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr7:114270000G>A	ENST00000393494.2	+	5	816	c.537G>A	c.(535-537)caG>caA	p.Q179Q	FOXP2_ENST00000393500.3_Silent_p.Q104Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q204Q(1)	lung(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(310-312)caG>caA		forkhead box P2							41.0	38.0	39.0					7																	114270000		2199	4282	6481	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114270000G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.537G>A	7.37:g.114270000G>A						AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q	p.Q104Q			O15409	FOXP2_HUMAN			11	1132	+			179			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.312G>A	CCDS5760.1																																																																																				0.498	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		5	228	0	0	0	1	0	5	228				
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642																																						ENST00000361217.4																			2	Substitution - coding silent(2)	p.Q788Q(1)|p.Q900Q(1)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2698-2700)caG>caA		DENN/MADD domain containing 4B							33.0	42.0	39.0					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909							g.chr1:153907309C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2700G>A	1.37:g.153907309C>T							p.Q900Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3118	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		900			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2700G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		5	240	0	0	0	1	0	5	240				
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488													C|||	539	0.107628	0.0083	0.0692	5008	,	,		20710	0.1776		0.1074	False		,,,				2504	0.1973					ENST00000418868.1																			0																																																			0							g.chr3:197348668C>G																													3.37:g.197348668C>G								NR_003266.2						0	591	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.488	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			5	450	0	0	0	1	0	5	450				
ZNF57	126295	broad.mit.edu	37	19	2917857	2917857	+	Missense_Mutation	SNP	C	C	T	rs148390269		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:2917857C>T	ENST00000306908.5	+	4	1386	c.1238C>T	c.(1237-1239)aCg>aTg	p.T413M	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.T381M	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		CATTTGAGGACGCACACTGGA	0.438													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22852	0.0		0.0	False		,,,				2504	0.0				NSCLC(150;910 1964 4303 10464 26498)	ENST00000306908.5																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1237-1239)aCg>aTg		zinc finger protein 57							100.0	90.0	93.0					19																	2917857		2203	4300	6503	SO:0001583	missense	126295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2917857C>T	M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"""Zinc fingers, C2H2-type"", ""-"""	13125	protein-coding gene	gene with protein product			"""zinc finger protein 424"""	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.1238C>T	19.37:g.2917857C>T	ENSP00000303696:p.Thr413Met					ZNF57_ENST00000523428.1_Missense_Mutation_p.T381M|AC006277.2_ENST00000520090.2_RNA	p.T413M	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1386	+			413					Q8N6R9	Missense_Mutation	SNP	ENST00000306908.5	37	c.1238C>T	CCDS12098.1	.	.	.	.	.	.	.	.	.	.	C	9.937	1.216517	0.22373	.	.	ENSG00000171970	ENST00000306908;ENST00000395204;ENST00000523428	T;T	0.13089	2.62;2.62	2.08	-2.04	0.07343	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17577	0.0422	L	0.50847	1.595	0.09310	N	1	D	0.57899	0.981	P	0.52343	0.696	T	0.15665	-1.0429	9	0.52906	T	0.07	.	6.5785	0.22581	0.0:0.5038:0.0:0.4962	.	413	Q68EA5	ZNF57_HUMAN	M	413;415;381	ENSP00000303696:T413M;ENSP00000430223:T381M	ENSP00000303696:T413M	T	+	2	0	ZNF57	2868857	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	-4.310000	0.00255	-0.255000	0.09486	-0.424000	0.05967	ACG		0.438	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378969.1	NM_173480		6	438	0	0	0	1	0	6	438				
OR1L4	254973	broad.mit.edu	37	9	125486817	125486817	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr9:125486817G>T	ENST00000259466.1	+	1	549	c.549G>T	c.(547-549)caG>caT	p.Q183H		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						GTGACACCCAGCCTGTGCTAA	0.512																																						ENST00000259466.1																			0				breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						c.(547-549)caG>caT		olfactory receptor, family 1, subfamily L, member 4							203.0	200.0	201.0					9																	125486817		2202	4281	6483	SO:0001583	missense	254973				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125486817G>T		CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"""GPCR / Class A : Olfactory receptors"""	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.549G>T	9.37:g.125486817G>T	ENSP00000259466:p.Gln183His						p.Q183H	NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN			1	549	+			183					Q6IFN0|Q96R81	Missense_Mutation	SNP	ENST00000259466.1	37	c.549G>T	CCDS35129.1	.	.	.	.	.	.	.	.	.	.	.	4.362	0.066629	0.08388	.	.	ENSG00000136939	ENST00000259466	T	0.00107	8.72	4.01	1.57	0.23409	GPCR, rhodopsin-like superfamily (1);	0.301605	0.24571	N	0.037392	T	0.00073	0.0002	N	0.02685	-0.53	0.29480	N	0.856427	B	0.16802	0.019	B	0.19666	0.026	T	0.03957	-1.0989	10	0.52906	T	0.07	-5.0755	6.7183	0.23316	0.4843:0.0:0.5157:0.0	.	183	Q8NGR5	OR1L4_HUMAN	H	183	ENSP00000259466:Q183H	ENSP00000259466:Q183H	Q	+	3	2	OR1L4	124526638	0.000000	0.05858	1.000000	0.80357	0.932000	0.56968	-2.347000	0.01095	0.279000	0.22186	0.298000	0.19748	CAG		0.512	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1			7	839	1	0	3.86212e-05	1	3.96052e-05	7	839				
CARM1	10498	broad.mit.edu	37	19	11022906	11022906	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:11022906C>T	ENST00000327064.4	+	5	795	c.605C>T	c.(604-606)gCc>gTc	p.A202V	CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	202	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.A202V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TCGTTTTTTGCCGCCCAAGCT	0.622																																						ENST00000327064.4																			2	Substitution - Missense(2)	p.A202V(2)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(604-606)gCc>gTc		coactivator-associated arginine methyltransferase 1							319.0	260.0	280.0					19																	11022906		2203	4300	6503	SO:0001583	missense	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11022906C>T	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.605C>T	19.37:g.11022906C>T	ENSP00000325690:p.Ala202Val					CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN			5	795	+			202					A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	c.605C>T	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	C	31	5.061915	0.93846	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.28666	1.6;1.6	5.67	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	H	0.96142	3.775	0.80722	D	1	D	0.57571	0.98	P	0.53809	0.735	T	0.76482	-0.2943	10	0.87932	D	0	-2.6238	14.9481	0.71047	0.1444:0.8556:0.0:0.0	.	202	Q86X55	CARM1_HUMAN	V	202	ENSP00000325690:A202V;ENSP00000340934:A202V	ENSP00000325690:A202V	A	+	2	0	CARM1	10883906	1.000000	0.71417	0.005000	0.12908	0.991000	0.79684	7.335000	0.79234	1.386000	0.46466	0.655000	0.94253	GCC		0.622	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		9	1310	0	0	0	1	0	9	1310				
PTPN14	5784	broad.mit.edu	37	1	214557727	214557727	+	Missense_Mutation	SNP	G	G	A	rs138557012	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:214557727G>A	ENST00000366956.5	-	13	1665	c.1471C>T	c.(1471-1473)Cgg>Tgg	p.R491W	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	491					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGCCTCTCCCGCATCTCCGGT	0.527													G|||	3	0.000599042	0.0	0.0014	5008	,	,		18704	0.0		0.002	False		,,,				2504	0.0				Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1471-1473)Cgg>Tgg		protein tyrosine phosphatase, non-receptor type 14		G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	145.0	153.0	151.0		1471	3.5	1.0	1	dbSNP_134	151	14,8586	9.8+/-36.6	0,14,4286	yes	missense	PTPN14	NM_005401.4	101	0,16,6487	AA,AG,GG		0.1628,0.0454,0.123	probably-damaging	491/1188	214557727	16,12990	2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557727G>A	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.1471C>T	1.37:g.214557727G>A	ENSP00000355923:p.Arg491Trp					PTPN14_ENST00000543945.1_3'UTR	p.R491W	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	1665	-			491					Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.1471C>T	CCDS1514.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	G	17.68	3.450452	0.63290	4.54E-4	0.001628	ENSG00000152104	ENST00000366956	T	0.71103	-0.54	5.49	3.53	0.40419	.	0.114078	0.64402	D	0.000018	T	0.80476	0.4630	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.65573	0.936	T	0.83306	-0.0025	10	0.87932	D	0	.	14.7421	0.69464	0.0:0.0:0.6283:0.3717	.	491	Q15678	PTN14_HUMAN	W	491	ENSP00000355923:R491W	ENSP00000355923:R491W	R	-	1	2	PTPN14	212624350	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.604000	0.36804	1.295000	0.44724	0.650000	0.86243	CGG		0.527	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		7	804	0	0	0	1	0	7	804				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		34	272	1	0	1.22674e-20	1	1.3345e-20	34	272				
POM121L12	285877	broad.mit.edu	37	7	53103442	53103442	+	Silent	SNP	C	C	T	rs374272329		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr7:53103442C>T	ENST00000408890.4	+	1	94	c.78C>T	c.(76-78)ccC>ccT	p.P26P		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	26										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGCAAGGCCCCGACGCCCTGG	0.706																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(76-78)ccC>ccT		POM121 transmembrane nucleoporin-like 12		C		2,4050		0,2,2024	17.0	22.0	20.0		78	-0.4	0.0	7		20	0,8324		0,0,4162	no	coding-synonymous	POM121L12	NM_182595.3		0,2,6186	TT,TC,CC		0.0,0.0494,0.0162		26/297	53103442	2,12374	2026	4162	6188	SO:0001819	synonymous_variant	285877							g.chr7:53103442C>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.78C>T	7.37:g.53103442C>T							p.P26P	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	94	+			26					Q8NDI9	Silent	SNP	ENST00000408890.4	37	c.78C>T	CCDS43584.1																																																																																				0.706	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		19	116	0	0	0	1	0	19	116				
KDM6A	7403	broad.mit.edu	37	X	44879977	44879977	+	Splice_Site	SNP	T	T	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chrX:44879977T>A	ENST00000377967.4	+	6	605		c.e6+2		KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0(12)|p.0?(6)|p.?(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGTTTAAAGGTAGGTTGTTGG	0.318			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		19	No detectable mRNA/protein(12)|Whole gene deletion(6)|Unknown(1)	p.0(12)|p.0?(6)|p.?(1)	haematopoietic_and_lymphoid_tissue(11)|oesophagus(4)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.e6+2		lysine (K)-specific demethylase 6A							141.0	131.0	134.0					X																	44879977		2203	4300	6503	SO:0001630	splice_region_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44879977T>A	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.564+2T>A	X.37:g.44879977T>A						KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site		NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			6	605	+								Q52LL9|Q5JVQ7	Splice_Site	SNP	ENST00000377967.4	37		CCDS14265.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.145474	0.77888	.	.	ENSG00000147050	ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000542299	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9212	0.70838	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM6A	44764921	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.392000	0.66272	1.973000	0.57446	0.486000	0.48141	.		0.318	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140	Intron	85	281	0	0	0	1	0	85	281				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	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_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q	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		9	174	0	0	0	1	0	9	174				
SIGLEC11	114132	broad.mit.edu	37	19	50462047	50462047	+	Missense_Mutation	SNP	A	A	C	rs201935510	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:50462047A>C	ENST00000447370.2	-	7	1306	c.1216T>G	c.(1216-1218)Tgg>Ggg	p.W406G	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.W406G|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	406	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GTCTGTCCCCACCGGGTCCAG	0.682																																						ENST00000447370.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(1216-1218)Tgg>Ggg		sialic acid binding Ig-like lectin 11							31.0	37.0	35.0					19																	50462047		2203	4299	6502	SO:0001583	missense	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50462047A>C	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1216T>G	19.37:g.50462047A>C	ENSP00000412361:p.Trp406Gly					SIGLEC11_ENST00000426971.2_Missense_Mutation_p.W406G	p.W406G	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	7	1306	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	406			Ig-like C2-type 3.			Missense_Mutation	SNP	ENST00000447370.2	37	c.1216T>G	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	A	0.410	-0.913951	0.02415	.	.	ENSG00000161640	ENST00000447370;ENST00000458019	T	0.06608	3.28	2.6	0.235	0.15431	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.580110	0.03342	N	0.194914	T	0.00754	0.0025	N	0.00002	-3.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.50750	-0.8791	9	.	.	.	.	3.7679	0.08630	0.2384:0.6144:0.0:0.1472	.	406;406	Q96RL6-2;Q96RL6	.;SIG11_HUMAN	G	406	ENSP00000412361:W406G	.	W	-	1	0	SIGLEC11	55153859	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.318000	0.08050	0.003000	0.14656	-1.045000	0.02358	TGG		0.682	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		5	327	0	0	0	1	0	5	327				
DIAPH1	1729	broad.mit.edu	37	5	140908065	140908065	+	Missense_Mutation	SNP	G	G	C			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr5:140908065G>C	ENST00000398557.4	-	23	3243	c.3103C>G	c.(3103-3105)Ctc>Gtc	p.L1035V	DIAPH1_ENST00000389054.3_Missense_Mutation_p.L1032V|DIAPH1_ENST00000518047.1_Missense_Mutation_p.L1023V|DIAPH1_ENST00000494967.1_5'Flank|DIAPH1_ENST00000520569.1_Missense_Mutation_p.L978V|DIAPH1_ENST00000398566.3_Missense_Mutation_p.L1027V|DIAPH1_ENST00000253811.6_Missense_Mutation_p.L1036V|DIAPH1_ENST00000398562.2_Missense_Mutation_p.L1011V|DIAPH1_ENST00000389057.5_Missense_Mutation_p.L1026V	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	1035	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAACTTGAGGACATCGGGA	0.502																																						ENST00000253811.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.(3106-3108)Ctc>Gtc		diaphanous-related formin 1							93.0	88.0	89.0					5																	140908065		1959	4157	6116	SO:0001583	missense	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140908065G>C	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.3103C>G	5.37:g.140908065G>C	ENSP00000381565:p.Leu1035Val					DIAPH1_ENST00000398557.4_Missense_Mutation_p.L1035V|DIAPH1_ENST00000398562.2_Missense_Mutation_p.L1011V|DIAPH1_ENST00000398566.3_Missense_Mutation_p.L1027V|DIAPH1_ENST00000389054.3_Missense_Mutation_p.L1032V|DIAPH1_ENST00000389057.5_Missense_Mutation_p.L1026V|DIAPH1_ENST00000520569.1_Missense_Mutation_p.L978V|DIAPH1_ENST00000518047.1_Missense_Mutation_p.L1023V	p.L1036V			O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		23	3246	-			1035			FH2.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	c.3106C>G	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855978	0.51376	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	T;T;T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	5.66	5.66	0.87406	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.072630	0.56097	D	0.000032	T	0.64821	0.2633	M	0.67625	2.065	0.47183	D	0.999347	P;P;P	0.48503	0.911;0.604;0.604	B;B;B	0.40677	0.337;0.239;0.239	T	0.70927	-0.4739	10	0.72032	D	0.01	.	12.6178	0.56586	0.0798:0.0:0.9202:0.0	.	978;1026;1035	E7ERW8;E9PEZ2;O60610	.;.;DIAP1_HUMAN	V	1032;978;1011;1026;1027;1035;1036;1023	ENSP00000373706:L1032V;ENSP00000429282:L978V;ENSP00000381570:L1011V;ENSP00000373709:L1026V;ENSP00000381572:L1027V;ENSP00000381565:L1035V;ENSP00000253811:L1036V;ENSP00000428268:L1023V	ENSP00000253811:L1036V	L	-	1	0	DIAPH1	140888249	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.449000	0.35123	2.672000	0.90937	0.467000	0.42956	CTC		0.502	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		36	216	0	0	0	1	0	36	216				
IKZF2	22807	broad.mit.edu	37	2	213872107	213872107	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr2:213872107G>A	ENST00000434687.1	-	9	1867	c.1558C>T	c.(1558-1560)Cga>Tga	p.R520*	AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000374319.4_Nonsense_Mutation_p.R494*|IKZF2_ENST00000451136.2_Nonsense_Mutation_p.R448*|IKZF2_ENST00000374327.4_Nonsense_Mutation_p.R375*|IKZF2_ENST00000421754.2_Nonsense_Mutation_p.R446*|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000457361.1_Nonsense_Mutation_p.R520*|IKZF2_ENST00000342002.2_Nonsense_Mutation_p.R526*			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	520					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TGCTCCCCTCGAACAATGTGT	0.483																																						ENST00000457361.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1558-1560)Cga>Tga		IKAROS family zinc finger 2 (Helios)							105.0	97.0	100.0					2																	213872107		2203	4300	6503	SO:0001587	stop_gained	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213872107G>A	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.1558C>T	2.37:g.213872107G>A	ENSP00000412869:p.Arg520*					IKZF2_ENST00000434687.1_Nonsense_Mutation_p.R520*|IKZF2_ENST00000451136.2_Nonsense_Mutation_p.R448*|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000342002.2_Nonsense_Mutation_p.R526*|IKZF2_ENST00000421754.2_Nonsense_Mutation_p.R446*|IKZF2_ENST00000374319.4_Nonsense_Mutation_p.R494*|IKZF2_ENST00000374327.4_Nonsense_Mutation_p.R375*	p.R520*	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	8	1726	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	520					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Nonsense_Mutation	SNP	ENST00000434687.1	37	c.1558C>T	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	G	36	5.623235	0.96660	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000421754;ENST00000374327;ENST00000542010	.	.	.	5.67	5.67	0.87782	.	0.000000	0.53938	D	0.000060	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.7304	19.7738	0.96383	0.0:0.0:1.0:0.0	.	.	.	.	X	520;526;520;494;448;446;375;224	.	ENSP00000342876:R526X	R	-	1	2	IKZF2	213580352	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.894000	0.87336	2.672000	0.90937	0.655000	0.94253	CGA		0.483	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		35	269	0	0	0	1	0	35	269				
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs111782215|rs561398509	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000332482.4_Silent_p.Q2705Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602													G|||	74	0.0147764	0.028	0.0086	5008	,	,		14914	0.0079		0.0119	False		,,,				2504	0.0112					ENST00000333577.4																			4	Substitution - coding silent(4)	p.Q2741Q(3)|p.Q2742Q(1)	prostate(2)|endometrium(1)|kidney(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8332-8334)caA>caG		E1A binding protein p400							48.0	40.0	43.0					12																	132547138		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547138A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8334A>G	12.37:g.132547138A>G						EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000332482.4_Silent_p.Q2705Q	p.Q2778Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8443	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2778			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8334A>G																																																																																					0.602	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		11	156	0	0	0	1	0	11	156				
CTRC	11330	broad.mit.edu	37	1	15769925	15769925	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:15769925C>T	ENST00000375949.4	+	5	394	c.368C>T	c.(367-369)gCc>gTc	p.A123V	CTRC_ENST00000375943.2_Missense_Mutation_p.P60S|CTRC_ENST00000483406.1_3'UTR	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	123	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AATGATATTGCCCTCATCAAG	0.592																																						ENST00000375943.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13						c.(178-180)Ccc>Tcc		chymotrypsin C (caldecrin)							227.0	217.0	221.0					1																	15769925		2203	4300	6503	SO:0001583	missense	11330				proteolysis		serine-type endopeptidase activity	g.chr1:15769925C>T	BC015118	CCDS156.1	1p36.21	2009-02-18			ENSG00000162438	ENSG00000162438	3.4.21.2		2523	protein-coding gene	gene with protein product	"""elastase 4"""	601405				8635596	Standard	NM_007272		Approved	CLCR, ELA4	uc001awi.1	Q99895	OTTHUMG00000002255	ENST00000375949.4:c.368C>T	1.37:g.15769925C>T	ENSP00000365116:p.Ala123Val					CTRC_ENST00000483406.1_3'UTR|CTRC_ENST00000375949.4_Missense_Mutation_p.A123V	p.P60S			Q99895	CTRC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	201	+		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)	0			Peptidase S1.		A8K082|O00765|Q9NUH5	Missense_Mutation	SNP	ENST00000375949.4	37	c.178C>T	CCDS156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	26.9|26.9	4.783551|4.783551	0.90282|0.90282	.|.	.|.	ENSG00000162438|ENSG00000162438	ENST00000375949|ENST00000375943	D|.	0.97941|.	-4.62|.	4.91|4.91	4.91|4.91	0.64330|0.64330	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85066|0.85066	0.5612|0.5612	M|M	0.91717|0.91717	3.235|3.235	0.42584|0.42584	D|D	0.993226|0.993226	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	D|D	0.88780|0.88780	0.3270|0.3270	10|6	0.87932|0.87932	D|D	0|0	-50.5833|-50.5833	16.8963|16.8963	0.86101|0.86101	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	123;123|.	A8MTQ9;Q99895|.	.;CTRC_HUMAN|.	V|S	123|60	ENSP00000365116:A123V|.	ENSP00000365116:A123V|ENSP00000365110:P60S	A|P	+|+	2|1	0|0	CTRC|CTRC	15642512|15642512	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.693000|0.693000	0.40251|0.40251	7.562000|7.562000	0.82300|0.82300	2.576000|2.576000	0.86940|0.86940	0.549000|0.549000	0.68633|0.68633	GCC|CCC		0.592	CTRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006435.1	NM_007272		7	1215	0	0	0	1	0	7	1215				
NBPF9	400818	broad.mit.edu	37	1	144825409	144825409	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:144825409G>A	ENST00000440491.2	+	11	1361	c.1361G>A	c.(1360-1362)gGt>gAt	p.G454D	NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Intron	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	712	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						GACTCACTGGGTAGATGGTAT	0.493																																						ENST00000440491.2																			0				NS(2)|prostate(1)	3						c.(1360-1362)gGt>gAt		neuroblastoma breakpoint family, member 9																																				SO:0001583	missense	400818							g.chr1:144825409G>A		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.1361G>A	1.37:g.144825409G>A	ENSP00000390934:p.Gly454Asp					NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000281815.8_Intron	p.G454D	NM_001037675.2	NP_001032764.1					11	1361	+									Missense_Mutation	SNP	ENST00000440491.2	37	c.1361G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0|0	-2.594425|-2.594425	0.00126|0.00126	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000440491|ENST00000375552	T|.	0.03124|.	4.04|.	1.03|1.03	-1.95|-1.95	0.07548|0.07548	.|.	.|.	.|.	.|.	.|.	T|T	0.11707|0.11707	0.0285|0.0285	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.32508|0.32508	-0.9904|-0.9904	6|4	0.02654|.	T|.	1|.	.|.	6.4945|6.4945	0.22133|0.22133	0.3592:0.0:0.6408:0.0|0.3592:0.0:0.6408:0.0	.|.	.|.	.|.	.|.	D|I	454|453	ENSP00000390934:G454D|.	ENSP00000390934:G454D|.	G|V	+|+	2|1	0|0	NBPF9|NBPF9	143536766|143536766	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	-0.176000|-0.176000	0.09811|0.09811	-1.412000|-1.412000	0.02030|0.02030	-1.220000|-1.220000	0.01600|0.01600	GGT|GTA		0.493	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675		7	878	0	0	0	1	0	7	878				
NCOR2	9612	broad.mit.edu	37	12	124816902	124816902	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr12:124816902C>A	ENST00000405201.1	-	43	6867	c.6867G>T	c.(6865-6867)aaG>aaT	p.K2289N	NCOR2_ENST00000356219.3_Missense_Mutation_p.K2296N|NCOR2_ENST00000404121.2_Missense_Mutation_p.K1850N|NCOR2_ENST00000404621.1_Missense_Mutation_p.K2279N|NCOR2_ENST00000397355.1_Missense_Mutation_p.K2280N|NCOR2_ENST00000429285.2_Missense_Mutation_p.K2279N			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2300					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TGTTCAGCTTCTTGTTGATCT	0.607											OREG0022237	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(6886-6888)aaG>aaT		nuclear receptor corepressor 2							164.0	164.0	164.0					12																	124816902		2056	4183	6239	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124816902C>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.6867G>T	12.37:g.124816902C>A	ENSP00000384018:p.Lys2289Asn		OREG0022237	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1537	NCOR2_ENST00000405201.1_Missense_Mutation_p.K2289N|NCOR2_ENST00000404621.1_Missense_Mutation_p.K2279N|NCOR2_ENST00000404121.2_Missense_Mutation_p.K1850N|NCOR2_ENST00000429285.2_Missense_Mutation_p.K2279N|NCOR2_ENST00000397355.1_Missense_Mutation_p.K2280N	p.K2296N	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	44	7043	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		2300					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.6888G>T	CCDS41858.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.73|14.73	2.623667|2.623667	0.46840|0.46840	.|.	.|.	ENSG00000196498|ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000447675;ENST00000429285|ENST00000443451;ENST00000440337	T;T;T;T;T;T|.	0.26810|.	1.71;1.99;1.72;1.99;1.73;1.98|.	4.4|4.4	4.4|4.4	0.53042|0.53042	.|.	0.056456|.	0.64402|.	D|.	0.000001|.	T|T	0.63792|0.63792	0.2541|0.2541	M|M	0.64997|0.64997	1.995|1.995	0.47584|0.47584	D|D	0.999463|0.999463	D;D;D|.	0.76494|.	0.999;0.995;0.991|.	D;D;D|.	0.80764|.	0.994;0.98;0.979|.	T|T	0.63292|0.63292	-0.6670|-0.6670	10|5	0.87932|.	D|.	0|.	-35.1737|-35.1737	10.6433|10.6433	0.45604|0.45604	0.0:0.9104:0.0:0.0896|0.0:0.9104:0.0:0.0896	.|.	2280;2289;2300|.	C9J239;C9JFD3;Q9Y618|.	.;.;NCOR2_HUMAN|.	N|I	2289;2279;2296;2280;2288;1850;381;2279|161;80	ENSP00000384018:K2289N;ENSP00000384202:K2279N;ENSP00000348551:K2296N;ENSP00000380513:K2280N;ENSP00000385618:K1850N;ENSP00000400281:K2279N|.	ENSP00000348551:K2296N|.	K|R	-|-	3|2	2|0	NCOR2|NCOR2	123382855|123382855	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	2.101000|2.101000	0.41787|0.41787	1.981000|1.981000	0.57761|0.57761	0.462000|0.462000	0.41574|0.41574	AAG|AGA		0.607	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		5	359	1	0	3.59834e-05	1	3.71367e-05	5	359				
SLC6A1	6529	broad.mit.edu	37	3	11064024	11064024	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr3:11064024G>A	ENST00000287766.4	+	7	1005	c.584G>A	c.(583-585)cGc>cAc	p.R195H	SLC6A1_ENST00000536032.1_Missense_Mutation_p.R17H	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	195					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	TTGACCAGGCGCAACATGCAT	0.597																																						ENST00000287766.4																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26						c.(583-585)cGc>cAc		solute carrier family 6 (neurotransmitter transporter), member 1	Cocaine(DB00907)|Tiagabine(DB00906)						69.0	60.0	63.0					3																	11064024		2203	4300	6503	SO:0001583	missense	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11064024G>A		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.584G>A	3.37:g.11064024G>A	ENSP00000287766:p.Arg195His					SLC6A1_ENST00000536032.1_Missense_Mutation_p.R17H	p.R195H	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	7	1005	+		Ovarian(110;0.0392)	195					Q8N4K8	Missense_Mutation	SNP	ENST00000287766.4	37	c.584G>A	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.572459	0.65765	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	T;T	0.77489	-1.1;-1.1	5.02	4.15	0.48705	.	0.074293	0.56097	N	0.000023	T	0.74876	0.3774	M	0.73372	2.23	0.80722	D	1	P	0.39665	0.682	B	0.35859	0.212	T	0.76699	-0.2863	10	0.48119	T	0.1	.	13.6297	0.62188	0.0746:0.0:0.9254:0.0	.	195	P30531	SC6A1_HUMAN	H	195;17	ENSP00000287766:R195H;ENSP00000445171:R17H	ENSP00000287766:R195H	R	+	2	0	SLC6A1	11039024	1.000000	0.71417	0.997000	0.53966	0.888000	0.51559	5.479000	0.66813	1.340000	0.45581	0.561000	0.74099	CGC		0.597	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		4	118	0	0	0	1	0	4	118				
NBPF9	400818	broad.mit.edu	37	1	144825416	144825416	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:144825416G>T	ENST00000440491.2	+	11	1368	c.1368G>T	c.(1366-1368)tgG>tgT	p.W456C	NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Intron	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	714	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						TGGGTAGATGGTATTCGACTC	0.498																																						ENST00000440491.2																			0				NS(2)|prostate(1)	3						c.(1366-1368)tgG>tgT		neuroblastoma breakpoint family, member 9																																				SO:0001583	missense	400818							g.chr1:144825416G>T		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.1368G>T	1.37:g.144825416G>T	ENSP00000390934:p.Trp456Cys					NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000281815.8_Intron	p.W456C	NM_001037675.2	NP_001032764.1					11	1368	+									Missense_Mutation	SNP	ENST00000440491.2	37	c.1368G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.001|0.001	-3.854584|-3.854584	0.00004|0.00004	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000375552|ENST00000440491	.|T	.|0.04360	.|3.64	1.21|1.21	-2.43|-2.43	0.06522|0.06522	.|.	.|.	.|.	.|.	.|.	T|T	0.00328|0.00328	0.0010|0.0010	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.41645|0.41645	-0.9497|-0.9497	4|6	.|0.02654	.|T	.|1	.|.	2.085|2.085	0.03644|0.03644	0.1601:0.1508:0.4683:0.2208|0.1601:0.1508:0.4683:0.2208	.|.	.|.	.|.	.|.	V|C	455|456	.|ENSP00000390934:W456C	.|ENSP00000390934:W456C	G|W	+|+	2|3	0|0	NBPF9|NBPF9	143536773|143536773	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	-1.250000|-1.250000	0.02885|0.02885	-3.829000|-3.829000	0.00102|0.00102	-1.228000|-1.228000	0.01579|0.01579	GGT|TGG		0.498	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675		7	939	1	0	0.0215528	1	0.0218239	7	939				
SLITRK5	26050	broad.mit.edu	37	13	88329453	88329453	+	Missense_Mutation	SNP	C	C	T	rs371327441		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr13:88329453C>T	ENST00000325089.6	+	2	2029	c.1810C>T	c.(1810-1812)Cgc>Tgc	p.R604C	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R363C	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	604	LRRCT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.R604C(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GACCGACATGCGCTCCATTAA	0.567																																						ENST00000325089.6																			1	Substitution - Missense(1)	p.R604C(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(1810-1812)Cgc>Tgc		SLIT and NTRK-like family, member 5		C	CYS/ARG	0,4406		0,0,2203	165.0	150.0	155.0		1810	4.5	1.0	13		155	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLITRK5	NM_015567.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	604/959	88329453	1,13005	2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88329453C>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1810C>T	13.37:g.88329453C>T	ENSP00000366283:p.Arg604Cys					SLITRK5_ENST00000400028.3_Missense_Mutation_p.R363C	p.R604C	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	2029	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		604			LRRCT 2.		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.1810C>T	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.011439	0.54468	0.0	1.16E-4	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.61158	0.13;0.49	5.47	4.54	0.55810	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78033	0.4220	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.987;0.993	T	0.81450	-0.0927	9	.	.	.	-15.1954	14.535	0.67953	0.1566:0.8434:0.0:0.0	.	363;604	B4DSH5;O94991	.;SLIK5_HUMAN	C	604;363	ENSP00000366283:R604C;ENSP00000442244:R363C	.	R	+	1	0	SLITRK5	87127454	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.167000	0.50793	2.554000	0.86153	0.555000	0.69702	CGC		0.567	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			7	875	0	0	0	1	0	7	875				
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427|rs369312237	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	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.Q76Q(4)		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)		agcaacagcagcagcagcagc	0.572																																						ENST00000392092.2																			4	Substitution - coding silent(4)	p.Q76Q(4)	lung(3)|prostate(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(226-228)caG>caA		TATA box binding protein							14.0	19.0	17.0					6																	170871052		1952	3842	5794	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.chr6:170871052G>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.228G>A	6.37:g.170871052G>A						TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	p.Q76Q	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	507	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	76			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.228G>A	CCDS5315.1																																																																																				0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		4	126	0	0	0	1	0	4	126				
DNM1P47	100216544	broad.mit.edu	37	15	102292832	102292832	+	RNA	SNP	G	G	C			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr15:102292832G>C	ENST00000561463.1	+	0	878									DNM1 pseudogene 47																		GAAGACACTCGTGGAGGCGTC	0.597																																						ENST00000561463.1																			0																																																			0							g.chr15:102292832G>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292832G>C														0	878	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.597	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		5	92	0	0	0	1	0	5	92				
SLC13A1	6561	broad.mit.edu	37	7	122821122	122821122	+	Missense_Mutation	SNP	C	C	T	rs199650403	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr7:122821122C>T	ENST00000194130.2	-	2	172	c.133G>A	c.(133-135)Gcc>Acc	p.A45T	SLC13A1_ENST00000539873.1_5'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	45					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CAAAATGTGGCGACCACAAAG	0.428													C|||	7	0.00139776	0.0008	0.0014	5008	,	,		19709	0.0		0.0	False		,,,				2504	0.0051					ENST00000194130.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45						c.(133-135)Gcc>Acc		solute carrier family 13 (sodium/sulfate symporter), member 1	Succinic acid(DB00139)						121.0	102.0	108.0					7																	122821122		2203	4300	6503	SO:0001583	missense	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122821122C>T		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.133G>A	7.37:g.122821122C>T	ENSP00000194130:p.Ala45Thr					SLC13A1_ENST00000539873.1_5'UTR	p.A45T	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN			2	172	-			45					Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	c.133G>A	CCDS5786.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	C	21.0	4.089751	0.76756	.	.	ENSG00000081800	ENST00000194130	T	0.03212	4.01	6.16	6.16	0.99307	.	0.047300	0.85682	D	0.000000	T	0.25344	0.0616	M	0.92169	3.28	0.80722	D	1	D	0.76494	0.999	P	0.61658	0.892	T	0.02226	-1.1192	10	0.59425	D	0.04	.	19.848	0.96722	0.0:1.0:0.0:0.0	.	45	Q9BZW2	S13A1_HUMAN	T	45	ENSP00000194130:A45T	ENSP00000194130:A45T	A	-	1	0	SLC13A1	122608358	1.000000	0.71417	0.094000	0.20943	0.191000	0.23601	7.258000	0.78371	2.937000	0.99478	0.650000	0.86243	GCC		0.428	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		4	196	0	0	0	1	0	4	196				
FCGBP	8857	broad.mit.edu	37	19	40395919	40395919	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:40395919G>A	ENST00000221347.6	-	15	7485	c.7478C>T	c.(7477-7479)gCc>gTc	p.A2493V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2493	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.A2493V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCAGGACGGCAAACCGATG	0.627																																						ENST00000221347.6																			1	Substitution - Missense(1)	p.A2493V(1)	urinary_tract(1)	NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(7477-7479)gCc>gTc		Fc fragment of IgG binding protein							214.0	180.0	192.0					19																	40395919		2152	3957	6109	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40395919G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7478C>T	19.37:g.40395919G>A	ENSP00000221347:p.Ala2493Val						p.A2493V	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		15	7485	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2493			VWFD 6.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.7478C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698696	0.48307	.	.	ENSG00000090920	ENST00000221347	T	0.58210	0.35	2.91	2.91	0.33838	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.43055	0.1230	N	0.22421	0.69	0.09310	N	1	B	0.29188	0.236	B	0.37989	0.262	T	0.36212	-0.9757	9	0.23302	T	0.38	.	13.0539	0.58969	0.0:0.0:1.0:0.0	.	2493	Q9Y6R7	FCGBP_HUMAN	V	2493	ENSP00000221347:A2493V	ENSP00000221347:A2493V	A	-	2	0	FCGBP	45087759	0.000000	0.05858	0.012000	0.15200	0.130000	0.20726	0.716000	0.25836	1.649000	0.50652	0.298000	0.19748	GCC		0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		8	1212	0	0	0	1	0	8	1212				
MPPED1	758	broad.mit.edu	37	22	43870629	43870629	+	Silent	SNP	C	C	T	rs532827143	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr22:43870629C>T	ENST00000417669.2	+	4	864	c.420C>T	c.(418-420)taC>taT	p.Y140Y	MPPED1_ENST00000443721.1_Silent_p.Y140Y|MPPED1_ENST00000542779.1_Silent_p.Y140Y|MPPED1_ENST00000538182.1_Silent_p.Y173Y|MPPED1_ENST00000414469.2_Silent_p.Y34Y|MPPED1_ENST00000439548.1_5'UTR			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	140							hydrolase activity (GO:0016787)	p.Y140*(1)		endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GCCTGCCCTACGAGTACAAGA	0.582													C|||	5	0.000998403	0.0	0.0	5008	,	,		22219	0.001		0.0	False		,,,				2504	0.0041					ENST00000417669.1																			1	Substitution - Nonsense(1)	p.Y140*(1)	lung(1)	endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13						c.(418-420)taC>taT		metallophosphoesterase domain containing 1							98.0	100.0	100.0					22																	43870629		2116	4250	6366	SO:0001819	synonymous_variant	758						hydrolase activity	g.chr22:43870629C>T	U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"""chromosome 22 open reading frame 1"""	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.420C>T	22.37:g.43870629C>T						MPPED1_ENST00000538182.1_Silent_p.Y173Y|MPPED1_ENST00000443721.1_Silent_p.Y140Y|MPPED1_ENST00000414469.2_Silent_p.Y34Y|MPPED1_ENST00000542779.1_Silent_p.Y140Y|MPPED1_ENST00000439548.1_5'UTR	p.Y140Y			O15442	MPPD1_HUMAN			4	864	+		all_neural(38;0.0244)|Ovarian(80;0.0694)	140					A8K159|B7Z2S9|Q8N361	Silent	SNP	ENST00000417669.2	37	c.420C>T	CCDS46723.1																																																																																				0.582	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370		6	561	0	0	0	1	0	6	561				
TRIM48	79097	broad.mit.edu	37	11	55035844	55035844	+	Missense_Mutation	SNP	T	T	C	rs544106865	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr11:55035844T>C	ENST00000417545.2	+	4	660	c.574T>C	c.(574-576)Tac>Cac	p.Y192H		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	176						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Y192H(11)|p.Y176H(11)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGACATATTATACAGGTGAGT	0.338													t|||	59	0.0117812	0.0023	0.0043	5008	,	,		11619	0.0089		0.001	False		,,,				2504	0.044					ENST00000417545.2																			22	Substitution - Missense(22)	p.Y192H(11)|p.Y176H(11)	endometrium(22)	endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(574-576)Tac>Cac		tripartite motif containing 48							109.0	112.0	111.0					11																	55035844		2189	4259	6448	SO:0001583	missense	79097					intracellular	zinc ion binding	g.chr11:55035844T>C	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.574T>C	11.37:g.55035844T>C	ENSP00000402414:p.Tyr192His						p.Y192H	NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN			4	660	+			176					Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	c.574T>C	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	t	1.777	-0.482977	0.04383	.	.	ENSG00000150244	ENST00000417545	T	0.71934	-0.61	.	.	.	.	.	.	.	.	T	0.38108	0.1028	N	0.02142	-0.665	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23655	-1.0182	7	0.24483	T	0.36	.	.	.	.	.	176	Q8IWZ4	TRI48_HUMAN	H	192	ENSP00000402414:Y192H	ENSP00000402414:Y192H	Y	+	1	0	TRIM48	54792420	0.459000	0.25768	0.171000	0.22900	0.171000	0.22731	-0.564000	0.05936	0.103000	0.17682	0.102000	0.15555	TAC		0.338	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			5	294	0	0	0	1	0	5	294				
NOTCH1	4851	broad.mit.edu	37	9	139395053	139395053	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr9:139395053C>T	ENST00000277541.6	-	31	5960	c.5885G>A	c.(5884-5886)cGc>cAc	p.R1962H		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1962					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGCGGGGTGCGGCCCATGTT	0.677			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(5884-5886)cGc>cAc		notch 1							72.0	88.0	82.0					9																	139395053		2193	4296	6489	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139395053C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5885G>A	9.37:g.139395053C>T	ENSP00000277541:p.Arg1962His	HNSCC(8;0.001)					p.R1962H	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	31	5960	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1962					Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.5885G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737965	0.69304	.	.	ENSG00000148400	ENST00000277541	T	0.66460	-0.21	4.68	4.68	0.58851	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.57021	0.2025	L	0.52266	1.64	0.80722	D	1	P	0.41947	0.766	B	0.27500	0.08	T	0.67914	-0.5547	10	0.87932	D	0	.	16.9985	0.86375	0.0:1.0:0.0:0.0	.	1962	P46531	NOTC1_HUMAN	H	1962	ENSP00000277541:R1962H	ENSP00000277541:R1962H	R	-	2	0	NOTCH1	138514874	0.998000	0.40836	0.765000	0.31456	0.721000	0.41392	7.581000	0.82535	2.322000	0.78497	0.555000	0.69702	CGC		0.677	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		6	626	0	0	0	1	0	6	626				
TEX2	55852	broad.mit.edu	37	17	62290359	62290359	+	Missense_Mutation	SNP	A	A	C			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr17:62290359A>C	ENST00000583097.1	-	2	1391	c.1219T>G	c.(1219-1221)Ttg>Gtg	p.L407V	TEX2_ENST00000258991.3_Missense_Mutation_p.L407V|TEX2_ENST00000584379.1_Missense_Mutation_p.L407V			Q8IWB9	TEX2_HUMAN	testis expressed 2	407					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)		AAGGCAGACAAAGAACATTTC	0.448																																						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.(1219-1221)Ttg>Gtg		testis expressed 2							100.0	103.0	102.0					17																	62290359		2203	4300	6503	SO:0001583	missense	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62290359A>C	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.1219T>G	17.37:g.62290359A>C	ENSP00000462665:p.Leu407Val					TEX2_ENST00000584379.1_Missense_Mutation_p.L407V|TEX2_ENST00000583097.1_Missense_Mutation_p.L407V	p.L407V			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	2	1303	-			407					Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	37	c.1219T>G		.	.	.	.	.	.	.	.	.	.	A	6.515	0.463155	0.12402	.	.	ENSG00000136478	ENST00000258991	T	0.54866	0.55	6.11	-3.07	0.05363	.	0.241819	0.43260	D	0.000598	T	0.45577	0.1349	L	0.56769	1.78	0.25501	N	0.987551	P;P	0.42827	0.791;0.687	B;B	0.44133	0.442;0.257	T	0.47522	-0.9111	10	0.54805	T	0.06	-10.7897	8.1698	0.31247	0.4215:0.0:0.463:0.1155	.	407;407	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	V	407	ENSP00000258991:L407V	ENSP00000258991:L407V	L	-	1	2	TEX2	59644091	0.625000	0.27111	0.126000	0.21872	0.971000	0.66376	1.066000	0.30604	-0.522000	0.06417	-0.250000	0.11733	TTG		0.448	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		88	532	0	0	0	1	0	88	532				
RRAS	6237	broad.mit.edu	37	19	50139001	50139001	+	Missense_Mutation	SNP	G	G	A	rs538230538		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:50139001G>A	ENST00000246792.3	-	5	664	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W		NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	188					axon guidance (GO:0007411)|negative regulation of cell migration (GO:0030336)|positive regulation of angiogenesis (GO:0045766)|Ras protein signal transduction (GO:0007265)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		CGGACAGCCCGCACCAGCTGC	0.597																																						ENST00000246792.3																			0				endometrium(1)|kidney(1)|lung(2)|ovary(2)	6						c.(562-564)Cgg>Tgg		related RAS viral (r-ras) oncogene homolog							80.0	85.0	83.0					19																	50139001		2203	4300	6503	SO:0001583	missense	6237				axon guidance|Ras protein signal transduction|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding	g.chr19:50139001G>A		CCDS12774.1	19q13.33	2014-05-09				ENSG00000126458			10447	protein-coding gene	gene with protein product	"""Oncogene RRAS"""	165090				3098437	Standard	NM_006270		Approved		uc002pop.1	P10301		ENST00000246792.3:c.562C>T	19.37:g.50139001G>A	ENSP00000246792:p.Arg188Trp						p.R188W	NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)	5	664	-			188					Q6FH12	Missense_Mutation	SNP	ENST00000246792.3	37	c.562C>T	CCDS12774.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744428	0.69418	.	.	ENSG00000126458	ENST00000246792	T	0.79454	-1.27	4.85	4.85	0.62838	.	0.204104	0.34067	N	0.004286	D	0.90459	0.7012	H	0.96398	3.815	0.58432	D	0.999999	D	0.89917	1.0	D	0.71184	0.972	D	0.92164	0.5738	10	0.87932	D	0	.	10.503	0.44817	0.0:0.0:0.6965:0.3035	.	188	P10301	RRAS_HUMAN	W	188	ENSP00000246792:R188W	ENSP00000246792:R188W	R	-	1	2	RRAS	54830813	0.312000	0.24545	0.994000	0.49952	0.740000	0.42216	2.016000	0.40971	2.509000	0.84616	0.491000	0.48974	CGG		0.597	RRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465791.1	NM_006270		6	454	0	0	0	1	0	6	454				
IFITM3	10410	broad.mit.edu	37	11	320606	320606	+	Missense_Mutation	SNP	G	G	T	rs199749095	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr11:320606G>T	ENST00000399808.4	-	1	444	c.208C>A	c.(208-210)Ccc>Acc	p.P70T	RP11-326C3.11_ENST00000602429.1_RNA|IFITM3_ENST00000526811.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000508004.2_RNA|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000602735.1_Missense_Mutation_p.P49T|RP11-326C3.14_ENST00000602809.1_lincRNA|RP11-326C3.10_ENST00000534271.1_RNA	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	70	Interaction with SPP1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral transcription (GO:0032897)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.P70T(3)		central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGCAGCAGGGGTTCATGAAG	0.632																																						ENST00000399808.4																			3	Substitution - Missense(3)	p.P70T(3)	endometrium(2)|central_nervous_system(1)	central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18						c.(208-210)Ccc>Acc		interferon induced transmembrane protein 3							89.0	95.0	93.0					11																	320606		2101	4210	6311	SO:0001583	missense	10410				response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane		g.chr11:320606G>T	X57352	CCDS41585.1	11p15.5	2011-05-24	2011-05-24		ENSG00000142089	ENSG00000142089			5414	protein-coding gene	gene with protein product		605579	"""interferon induced transmembrane protein 3 (1-8U)"""			1906403, 16326387	Standard	NM_021034		Approved	1-8U	uc001lpa.2	Q01628		ENST00000399808.4:c.208C>A	11.37:g.320606G>T	ENSP00000382707:p.Pro70Thr					RP11-326C3.11_ENST00000602429.1_RNA|IFITM3_ENST00000602735.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000526811.1_Missense_Mutation_p.P49T	p.P70T	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	1	444	-		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	70			Interaction with SPP1.		Q53Y76|Q96HK8|Q96J15	Missense_Mutation	SNP	ENST00000399808.4	37	c.208C>A	CCDS41585.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|G	0.076|0.076	-1.193620|-1.193620	0.01594|0.01594	.|.	.|.	ENSG00000142089|ENSG00000142089	ENST00000270031|ENST00000399808;ENST00000526811	.|T;T	.|0.78595	.|-0.94;-1.19	4.65|4.65	-9.3|-9.3	0.00649|0.00649	.|.	.|.	.|.	.|.	.|.	.|T	.|0.54447	.|0.1859	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999999|0.999999	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	.|T	.|0.32375	.|-0.9909	.|9	.|0.22109	.|T	.|0.4	.|.	2.5632|2.5632	0.04777|0.04777	0.1587:0.0951:0.2785:0.4676|0.1587:0.0951:0.2785:0.4676	.|.	.|70	.|Q01628	.|IFM3_HUMAN	.|T	-1|70;49	.|ENSP00000382707:P70T;ENSP00000432108:P49T	.|ENSP00000382707:P70T	.|P	-|-	.|1	.|0	IFITM3|IFITM3	310606|310606	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.022000|0.022000	0.10575|0.10575	-1.460000|-1.460000	0.02368|0.02368	-3.272000|-3.272000	0.00199|0.00199	-2.532000|-2.532000	0.00182|0.00182	.|CCC		0.632	IFITM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384765.1	NM_021034		21	524	1	0	1.21669e-08	1	1.28031e-08	21	524				
CCDC8	83987	broad.mit.edu	37	19	46914987	46914987	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:46914987C>T	ENST00000307522.3	-	1	1854	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	361					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GCAGCCTCTTCCCTCTGGTTA	0.597																																						ENST00000307522.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1081-1083)Gaa>Aaa		coiled-coil domain containing 8							115.0	117.0	116.0					19																	46914987		2203	4300	6503	SO:0001583	missense	83987					plasma membrane		g.chr19:46914987C>T	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1081G>A	19.37:g.46914987C>T	ENSP00000303158:p.Glu361Lys						p.E361K	NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	1854	-			361					Q8TB26	Missense_Mutation	SNP	ENST00000307522.3	37	c.1081G>A	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	C	9.334	1.061247	0.19987	.	.	ENSG00000169515	ENST00000307522	T	0.11495	2.77	3.19	3.19	0.36642	.	0.455403	0.16199	N	0.225029	T	0.07007	0.0178	N	0.19112	0.55	0.21325	N	0.999721	B	0.25169	0.119	B	0.21546	0.035	T	0.31833	-0.9929	10	0.15066	T	0.55	0.0165	12.6394	0.56700	0.0:1.0:0.0:0.0	.	361	Q9H0W5	CCDC8_HUMAN	K	361	ENSP00000303158:E361K	ENSP00000303158:E361K	E	-	1	0	CCDC8	51606827	0.000000	0.05858	0.029000	0.17559	0.042000	0.13812	-0.412000	0.07132	2.093000	0.63338	0.297000	0.19635	GAA		0.597	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		101	613	0	0	0	1	0	101	613				
MED12L	116931	broad.mit.edu	37	3	150908624	150908624	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr3:150908624G>A	ENST00000474524.1	+	13	1912	c.1874G>A	c.(1873-1875)gGa>gAa	p.G625E	MED12L_ENST00000273432.4_Missense_Mutation_p.G485E|MED12L_ENST00000309237.4_Missense_Mutation_p.G625E|RNA5SP145_ENST00000363124.1_RNA|MED12L_ENST00000422248.2_Missense_Mutation_p.G625E	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	625						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATATCTCGAGGAGATTTGTCA	0.488																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(1873-1875)gGa>gAa		mediator complex subunit 12-like							134.0	112.0	119.0					3																	150908624		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150908624G>A	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.1874G>A	3.37:g.150908624G>A	ENSP00000417235:p.Gly625Glu					MED12L_ENST00000422248.2_Missense_Mutation_p.G625E|MED12L_ENST00000273432.4_Missense_Mutation_p.G485E|MED12L_ENST00000309237.4_Missense_Mutation_p.G625E	p.G625E	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		13	1912	+			625					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.1874G>A	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	31	5.068595	0.93950	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	5.57	5.57	0.84162	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.000000	0.85682	D	0.000000	D	0.83408	0.5248	M	0.88775	2.98	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;0.999;0.999	D	0.85845	0.1400	10	0.87932	D	0	-16.4504	19.5175	0.95170	0.0:0.0:1.0:0.0	.	485;625;625;625	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	E	625;625;625;485	ENSP00000403308:G625E;ENSP00000310760:G625E;ENSP00000417235:G625E;ENSP00000273432:G485E	ENSP00000273432:G485E	G	+	2	0	MED12L	152391314	1.000000	0.71417	0.793000	0.32043	0.899000	0.52679	8.888000	0.92464	2.780000	0.95670	0.655000	0.94253	GGA		0.488	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		29	221	0	0	0	1	0	29	221				
IL34	146433	broad.mit.edu	37	16	70693984	70693984	+	Missense_Mutation	SNP	C	C	T	rs201277640		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr16:70693984C>T	ENST00000288098.2	+	6	1006	c.623C>T	c.(622-624)gCg>gTg	p.A208V	IL34_ENST00000429149.2_Missense_Mutation_p.A208V|IL34_ENST00000566361.1_Missense_Mutation_p.A183V|FLJ00418_ENST00000597002.1_5'Flank	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	208					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)	p.A208V(1)		breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						TTGCAGTATGCGGCCACCCAG	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		14065	0.0		0.001	False		,,,				2504	0.0					ENST00000429149.2																			1	Substitution - Missense(1)	p.A208V(1)	urinary_tract(1)	breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						c.(622-624)gCg>gTg		interleukin 34		C	VAL/ALA,VAL/ALA,VAL/ALA	1,4395	2.1+/-5.4	0,1,2197	96.0	105.0	102.0		620,623,623	-3.1	0.0	16		102	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	IL34	NM_001172771.1,NM_001172772.1,NM_152456.2	64,64,64	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign	207/242,208/243,208/243	70693984	2,12994	2198	4300	6498	SO:0001583	missense	146433				positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding	g.chr16:70693984C>T	BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"""Interleukins and interleukin receptors"""	28529	protein-coding gene	gene with protein product		612081	"""chromosome 16 open reading frame 77"""	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.623C>T	16.37:g.70693984C>T	ENSP00000288098:p.Ala208Val					IL34_ENST00000566361.1_Missense_Mutation_p.A183V|IL34_ENST00000288098.2_Missense_Mutation_p.A208V	p.A208V	NM_001172771.1|NM_152456.2	NP_001166242.1|NP_689669.2	Q6ZMJ4	IL34_HUMAN			7	1178	+			208					B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Missense_Mutation	SNP	ENST00000288098.2	37	c.623C>T	CCDS10895.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	1.250	-0.618797	0.03663	2.27E-4	1.16E-4	ENSG00000157368	ENST00000429149;ENST00000288098	T;T	0.34667	1.35;1.35	4.69	-3.08	0.05347	.	2.218580	0.03059	N	0.155676	T	0.10294	0.0252	N	0.01352	-0.895	0.09310	N	1	B;B	0.17465	0.022;0.022	B;B	0.08055	0.003;0.003	T	0.24261	-1.0165	10	0.05436	T	0.98	-0.0424	4.1458	0.10215	0.4149:0.3737:0.0:0.2114	.	207;208	Q6ZMJ4-2;Q6ZMJ4	.;IL34_HUMAN	V	208	ENSP00000397863:A208V;ENSP00000288098:A208V	ENSP00000288098:A208V	A	+	2	0	IL34	69251485	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.807000	0.01734	-0.832000	0.04251	-1.552000	0.00895	GCG		0.647	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268971.3	NM_152456		8	722	0	0	0	1	0	8	722				
MUC7	4589	broad.mit.edu	37	4	71347185	71347185	+	Missense_Mutation	SNP	T	T	C	rs79807294	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr4:71347185T>C	ENST00000304887.5	+	3	914	c.724T>C	c.(724-726)Tct>Cct	p.S242P	MUC7_ENST00000413702.1_Missense_Mutation_p.S242P|MUC7_ENST00000456088.1_Missense_Mutation_p.S242P	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	242	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.592																																						ENST00000413702.1																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(724-726)Tct>Cct		mucin 7, secreted							422.0	341.0	368.0					4																	71347185		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71347185T>C	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.724T>C	4.37:g.71347185T>C	ENSP00000302021:p.Ser242Pro					MUC7_ENST00000456088.1_Missense_Mutation_p.S242P|MUC7_ENST00000304887.5_Missense_Mutation_p.S242P	p.S242P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	1012	+			242			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.724T>C	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	T	9.595	1.127046	0.20959	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.52754	0.65;0.65;0.65	1.88	-3.76	0.04359	.	.	.	.	.	T	0.26048	0.0635	N	0.24115	0.695	0.09310	N	1	B	0.24823	0.112	B	0.17722	0.019	T	0.17837	-1.0356	8	.	.	.	0.6471	6.6904	0.23167	0.7198:0.0:0.0:0.2802	.	242	Q8TAX7	MUC7_HUMAN	P	242	ENSP00000407422:S242P;ENSP00000400585:S242P;ENSP00000302021:S242P	.	S	+	1	0	MUC7	71381774	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.151000	0.01289	-0.798000	0.04444	-0.438000	0.05819	TCT		0.592	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		7	337	0	0	0	1	0	7	337				
CNGA4	1262	broad.mit.edu	37	11	6261751	6261751	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr11:6261751G>A	ENST00000379936.2	+	4	842	c.727G>A	c.(727-729)Gag>Aag	p.E243K	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	243					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)	p.E243K(1)		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)		CAGGGAAGAAGAGTACCTCTT	0.552																																						ENST00000379936.2																			1	Substitution - Missense(1)	p.E243K(1)	large_intestine(1)	endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40						c.(727-729)Gag>Aag		cyclic nucleotide gated channel alpha 4							77.0	72.0	74.0					11																	6261751		2201	4296	6497	SO:0001583	missense	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6261751G>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.727G>A	11.37:g.6261751G>A	ENSP00000369268:p.Glu243Lys					CNGA4_ENST00000533426.1_Intron	p.E243K	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	842	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	243						Missense_Mutation	SNP	ENST00000379936.2	37	c.727G>A	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133543	0.77662	.	.	ENSG00000132259	ENST00000379936	D	0.97731	-4.51	5.3	5.3	0.74995	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99281	0.9749	H	0.98005	4.125	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.982	D	0.98722	1.0709	10	0.87932	D	0	.	17.8807	0.88840	0.0:0.0:1.0:0.0	.	243;203	Q8IV77;Q8IV77-2	CNGA4_HUMAN;.	K	243	ENSP00000369268:E243K	ENSP00000369268:E243K	E	+	1	0	CNGA4	6218327	1.000000	0.71417	1.000000	0.80357	0.186000	0.23388	9.420000	0.97426	2.640000	0.89533	0.561000	0.74099	GAG		0.552	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		54	342	0	0	0	1	0	54	342				
WDR88	126248	broad.mit.edu	37	19	33623225	33623225	+	Silent	SNP	G	G	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:33623225G>A	ENST00000355868.3	+	1	226	c.150G>A	c.(148-150)ccG>ccA	p.P50P	WDR88_ENST00000592765.1_Silent_p.P50P|WDR88_ENST00000361680.2_Silent_p.P50P	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	50										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					TGTCGATCCCGCACACGCACC	0.652																																						ENST00000361680.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(148-150)ccG>ccA		WD repeat domain 88							81.0	78.0	79.0					19																	33623225		2203	4300	6503	SO:0001819	synonymous_variant	126248							g.chr19:33623225G>A	BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"""WD repeat domain containing"""	26999	protein-coding gene	gene with protein product			"""PQQ repeat and WD repeat domain containing"""	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.150G>A	19.37:g.33623225G>A						WDR88_ENST00000355868.3_Silent_p.P50P|WDR88_ENST00000592765.1_Silent_p.P50P	p.P50P			Q6ZMY6	WDR88_HUMAN			1	228	+	Esophageal squamous(110;0.137)		50					Q8NEF8	Silent	SNP	ENST00000355868.3	37	c.150G>A	CCDS12429.1																																																																																				0.652	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479		5	505	0	0	0	1	0	5	505				
VAMP3	9341	broad.mit.edu	37	1	7838212	7838214	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:7838212_7838214delTCA	ENST00000054666.6	+	4	381_383	c.266_268delTCA	c.(265-270)ttcatc>ttc	p.I94del	RP3-467L1.6_ENST00000602406.1_RNA|VAMP3_ENST00000470357.1_In_Frame_Del_p.I66del	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN	vesicle-associated membrane protein 3	94					calcium ion-dependent exocytosis (GO:0017156)|exocytosis (GO:0006887)|Golgi to plasma membrane protein transport (GO:0043001)|membrane fusion (GO:0061025)|positive regulation of receptor recycling (GO:0001921)|protein complex assembly (GO:0006461)|retrograde transport, endosome to Golgi (GO:0042147)|SNARE complex assembly (GO:0035493)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synapse (GO:0045202)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGTTATCTTCATCATCATCAT	0.365																																						ENST00000054666.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6						c.(265-270)ttc>t		vesicle-associated membrane protein 3																																				SO:0001651	inframe_deletion	9341				cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding	g.chr1:7838212_7838214delTCA	BC003570	CCDS88.1	1p36.23	2013-02-13	2012-10-17		ENSG00000049245	ENSG00000049245		"""Vesicle-associated membrane proteins"""	12644	protein-coding gene	gene with protein product	"""cellubrevin"""	603657				9885218	Standard	NM_004781		Approved	CEB	uc001aol.3	Q15836	OTTHUMG00000001225	ENST00000054666.6:c.266_268delTCA	1.37:g.7838221_7838223delTCA	ENSP00000054666:p.Ile94del					VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del	p.FI89del	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	4	381_383	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	89					Q9BRV4	In_Frame_Del	DEL	ENST00000054666.6	37	c.266_268delTCA	CCDS88.1																																																																																				0.365	VAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003625.1	NM_004781		7	597						7	597	---	---	---	---
KIF1B	23095	broad.mit.edu	37	1	10425476	10425477	+	Frame_Shift_Ins	INS	-	-	C	rs377576958|rs78662124		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:10425476_10425477insC	ENST00000377086.1	+	43	4724_4725	c.4522_4523insC	c.(4522-4524)accfs	p.T1508fs	KIF1B_ENST00000263934.6_Frame_Shift_Ins_p.T1462fs|KIF1B_ENST00000377081.1_Frame_Shift_Ins_p.T1508fs			O60333	KIF1B_HUMAN	kinesin family member 1B	1508					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GGTGGAAAAAACCCGCCACTTT	0.505																																						ENST00000377086.1																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(4522-4524)ccgfs		kinesin family member 1B																																				SO:0001589	frameshift_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10425476_10425477insC	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4525dupC	1.37:g.10425479_10425479dupC	ENSP00000366290:p.Thr1508fs					KIF1B_ENST00000377081.1_Frame_Shift_Ins_p.P1508fs|KIF1B_ENST00000263934.6_Frame_Shift_Ins_p.P1462fs	p.P1508fs			O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	43	4724_4725	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1508					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Frame_Shift_Ins	INS	ENST00000377086.1	37	c.4522_4523insC																																																																																					0.505	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			8	242						8	242	---	---	---	---
CROCCP2	84809	broad.mit.edu	37	1	16953827	16953828	+	lincRNA	INS	-	-	C	rs57007114|rs397767732		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:16953827_16953828insC	ENST00000412962.1	-	0	477							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TCACTTTCCTGCCCGAACCTCC	0.609																																						ENST00000412962.1																			0																																																			0							g.chr1:16953827_16953828insC	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16953830_16953830dupC														0	477	-								Q8NF65|Q96FR5|Q9BRE8	RNA	INS	ENST00000412962.1	37																																																																																						0.609	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		9	109						9	109	---	---	---	---
KCND3	3752	broad.mit.edu	37	1	112524444	112524445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:112524444_112524445insG	ENST00000315987.2	-	2	1383_1384	c.904_905insC	c.(904-906)cgcfs	p.R302fs	KCND3_ENST00000302127.4_Frame_Shift_Ins_p.R302fs|KCND3_ENST00000369697.1_Frame_Shift_Ins_p.R302fs	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	302					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CTGGGAGTGGCGGGAAAACTTG	0.579																																						ENST00000369697.1																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49						c.(904-906)ccafs		potassium voltage-gated channel, Shal-related subfamily, member 3																																				SO:0001589	frameshift_variant	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112524444_112524445insG	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.905dupC	1.37:g.112524447_112524447dupG	ENSP00000319591:p.Arg302fs					KCND3_ENST00000315987.2_Frame_Shift_Ins_p.P302fs|KCND3_ENST00000302127.4_Frame_Shift_Ins_p.P302fs	p.P302fs			Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	1	973_974	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	302					O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Frame_Shift_Ins	INS	ENST00000315987.2	37	c.904_905insC	CCDS843.1																																																																																				0.579	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		10	331						10	331	---	---	---	---
TRIM33	51592	broad.mit.edu	37	1	114968116	114968118	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:114968116_114968118delTGT	ENST00000358465.2	-	9	1731_1733	c.1648_1650delACA	c.(1648-1650)acadel	p.T550del	TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del|TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	550	Poly-Thr.				gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATGCTGTTGTGTTGTTGTTGTT	0.429			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(1648-1650)del		tripartite motif containing 33																																				SO:0001651	inframe_deletion	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114968116_114968118delTGT	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1648_1650delACA	1.37:g.114968125_114968127delTGT	ENSP00000351250:p.Thr550del					TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del|TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del	p.T550del	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1731_1733	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	550			Poly-Thr.		O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	In_Frame_Del	DEL	ENST00000358465.2	37	c.1648_1650delACA	CCDS872.1																																																																																				0.429	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		9	938						9	938	---	---	---	---
SYCP1	6847	broad.mit.edu	37	1	115469133	115469134	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:115469133_115469134insA	ENST00000369522.3	+	23	2115_2116	c.1875_1876insA	c.(1876-1878)aaafs	p.K626fs	SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.K626fs	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	626					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATAAGGCCTTGAAAAAAAAAGG	0.267																																						ENST00000369522.3																		RGS22/SYCP1(2)	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1873-1878)ttaaaafs		synaptonemal complex protein 1																																				SO:0001589	frameshift_variant	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115469133_115469134insA	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.1884dupA	1.37:g.115469142_115469142dupA	ENSP00000358535:p.Lys626fs					SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.LK625fs	p.LK625fs	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	23	2115_2116	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	625					O14963|Q5VXJ6	Frame_Shift_Ins	INS	ENST00000369522.3	37	c.1875_1876insA	CCDS879.1																																																																																				0.267	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		7	172						7	172	---	---	---	---
LOC101927209	101927209	broad.mit.edu	37	1	142713977	142713977	+	lincRNA	DEL	T	T	-	rs140223576		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:142713977delT	ENST00000610091.1	-	0	1681																											ATCCATATACTAAAAAGGTTA	0.294																																						ENST00000369381.2																			0																																																			0							g.chr1:142713977delT																													1.37:g.142713977delT														0	628	-									RNA	DEL	ENST00000610091.1	37																																																																																						0.294	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			9	42						9	42	---	---	---	---
LINGO4	339398	broad.mit.edu	37	1	151773603	151773603	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:151773603delA	ENST00000368820.3	-	2	2515	c.1578delT	c.(1576-1578)tttfs	p.F526fs	RP11-98D18.17_ENST00000601909.1_lincRNA	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	526						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGCTATCCAGAAAAAAAGGCC	0.582																																						ENST00000368820.3																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1576-1578)ttfs		leucine rich repeat and Ig domain containing 4							131.0	137.0	135.0					1																	151773603		2203	4300	6503	SO:0001589	frameshift_variant	339398					integral to membrane		g.chr1:151773603delA		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.1578delT	1.37:g.151773603delA	ENSP00000357810:p.Phe526fs						p.F526fs	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	2515	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		526						Frame_Shift_Del	DEL	ENST00000368820.3	37	c.1578delT	CCDS30855.1																																																																																				0.582	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		9	996						9	996	---	---	---	---
TCHH	7062	broad.mit.edu	37	1	152082957	152082959	+	In_Frame_Del	DEL	CTC	CTC	-	rs143222885	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:152082957_152082959delCTC	ENST00000368804.1	-	2	2733_2735	c.2734_2736delGAG	c.(2734-2736)gagdel	p.E912del		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	912	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTCTGTAGCTCCTCCTCCTCC	0.586																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(2734-2736)del		trichohyalin																																				SO:0001651	inframe_deletion	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082957_152082959delCTC	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2734_2736delGAG	1.37:g.152082966_152082968delCTC	ENSP00000357794:p.Glu912del						p.E912del	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2733_2735	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		912			10 X 30 AA tandem repeats.		Q5VUI3	In_Frame_Del	DEL	ENST00000368804.1	37	c.2734_2736delGAG	CCDS41396.1																																																																																				0.586	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		9	1019						9	1019	---	---	---	---
APOA1BP	128240	broad.mit.edu	37	1	156562376	156562376	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:156562376delA	ENST00000368235.3	+	4	473	c.430delA	c.(430-432)aaafs	p.K144fs	APOA1BP_ENST00000368234.3_Frame_Shift_Del_p.K144fs|APOA1BP_ENST00000368233.3_Frame_Shift_Del_p.K144fs|APOA1BP_ENST00000467374.1_3'UTR	NM_144772.2	NP_658985.2			apolipoprotein A-I binding protein											central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTATTACCCCAAAAGGCCTAA	0.567																																						ENST00000368235.3																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9						c.(430-432)aafs		apolipoprotein A-I binding protein							171.0	172.0	172.0					1																	156562376		2203	4300	6503	SO:0001589	frameshift_variant	128240					extracellular region	protein binding	g.chr1:156562376delA	AJ315849	CCDS1145.1	1q21	2008-08-14			ENSG00000163382	ENSG00000163382			18453	protein-coding gene	gene with protein product	"""apoA-I binding protein"""	608862				11991719, 17533573	Standard	NM_144772		Approved	AIBP, MGC119143, MGC119144, MGC119145, YJEFN1	uc001fph.3	Q8NCW5	OTTHUMG00000033206	ENST00000368235.3:c.430delA	1.37:g.156562376delA	ENSP00000357218:p.Lys144fs					APOA1BP_ENST00000368233.3_Frame_Shift_Del_p.K144fs|APOA1BP_ENST00000467374.1_3'UTR|APOA1BP_ENST00000368234.3_Frame_Shift_Del_p.K144fs	p.K144fs	NM_144772.2	NP_658985.2	Q8NCW5	AIBP_HUMAN			4	473	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		144			YjeF N-terminal.			Frame_Shift_Del	DEL	ENST00000368235.3	37	c.430delA	CCDS1145.1																																																																																				0.567	APOA1BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081044.1	NM_144772		7	1194						7	1194	---	---	---	---
NR1I3	9970	broad.mit.edu	37	1	161202999	161203000	+	Frame_Shift_Ins	INS	-	-	G	rs139473535	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:161202999_161203000insG	ENST00000367982.4	-	4	522_523	c.367_368insC	c.(367-369)cgcfs	p.R123fs	NR1I3_ENST00000442691.2_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000506209.1_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000367981.3_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000515452.1_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000437437.2_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000511676.1_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000367983.4_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000508740.1_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000367985.3_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000515621.1_Frame_Shift_Ins_p.R48fs|NR1I3_ENST00000367979.2_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000412844.2_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000512372.1_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000367980.2_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000504010.1_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000367984.4_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000428574.2_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000479324.1_5'Flank|NR1I3_ENST00000505005.1_Frame_Shift_Ins_p.R123fs			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	123					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCCCATGTGGCGGGTGTGGGCC	0.564																																						ENST00000367983.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15						c.(367-369)ccafs		nuclear receptor subfamily 1, group I, member 3																																				SO:0001589	frameshift_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr1:161202999_161203000insG	Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"""Nuclear hormone receptors"""	7969	protein-coding gene	gene with protein product	"""constitutive androstane receptor"""	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.368dupC	1.37:g.161203002_161203002dupG	ENSP00000356961:p.Arg123fs					NR1I3_ENST00000367985.3_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000506209.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000442691.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000437437.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000367984.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367981.3_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000511676.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000412844.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367980.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000508740.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000428574.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000505005.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000504010.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367982.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000512372.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000515621.1_Frame_Shift_Ins_p.P48fs|NR1I3_ENST00000515452.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367979.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000511944.1_Intron	p.P123fs			Q14994	NR1I3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	661_662	-	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		123					E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Frame_Shift_Ins	INS	ENST00000367982.4	37	c.367_368insC	CCDS41430.1																																																																																				0.564	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083048.2			8	1220						8	1220	---	---	---	---
INTS7	25896	broad.mit.edu	37	1	212115191	212115193	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:212115191_212115193delTGC	ENST00000366994.3	-	20	2966_2968	c.2862_2864delGCA	c.(2860-2865)cagcaa>caa	p.954_955QQ>Q	INTS7_ENST00000440600.2_In_Frame_Del_p.905_906QQ>Q|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_In_Frame_Del_p.934_935QQ>Q|INTS7_ENST00000366993.3_In_Frame_Del_p.940_941QQ>Q	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	954	Gln-rich.				cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GGCATTGCGTTGCTGCTGCTGCT	0.443																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(2860-2865)caa>ca		integrator complex subunit 7																																				SO:0001651	inframe_deletion	25896				snRNA processing	integrator complex	protein binding	g.chr1:212115191_212115193delTGC	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.2862_2864delGCA	1.37:g.212115200_212115202delTGC	ENSP00000355961:p.Gln955del					INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del|INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del|INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del|INTS7_ENST00000469606.1_5'UTR	p.QQ954del	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	20	2966_2968	-			954			Gln-rich.		B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	In_Frame_Del	DEL	ENST00000366994.3	37	c.2862_2864delGCA	CCDS1501.1																																																																																				0.443	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		7	777						7	777	---	---	---	---
AGT	183	broad.mit.edu	37	1	230839055	230839055	+	Frame_Shift_Del	DEL	A	A	-	rs387906578		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	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		10	355						10	355	---	---	---	---
TEKT4	150483	broad.mit.edu	37	2	95539829	95539830	+	Frame_Shift_Ins	INS	-	-	G	rs149873671		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr2:95539829_95539830insG	ENST00000295201.4	+	3	826_827	c.689_690insG	c.(688-693)ccgtacfs	p.Y231fs	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	231					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.P230P(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CAGGCTCATCCGTACTCCACCA	0.663																																						ENST00000295201.4																			1	Substitution - coding silent(1)	p.P230P(1)	lung(1)	NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(688-690)ctafs		tektin 4																																				SO:0001589	frameshift_variant	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95539829_95539830insG	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.690dupG	2.37:g.95539830_95539830dupG	ENSP00000295201:p.Tyr231fs					AC097374.2_ENST00000568768.1_RNA	p.L230fs	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN			3	826_827	+			230						Frame_Shift_Ins	INS	ENST00000295201.4	37	c.689_690insG	CCDS2005.1																																																																																				0.663	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		7	478						7	478	---	---	---	---
TMEM127	55654	broad.mit.edu	37	2	96919781	96919783	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr2:96919781_96919783delTGC	ENST00000258439.3	-	4	736_738	c.480_482delGCA	c.(478-483)cagcat>cat	p.Q160del	TMEM127_ENST00000432959.1_In_Frame_Del_p.Q160del|TMEM127_ENST00000435268.1_In_Frame_Del_p.Q76del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	160					negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GTACTTCTTATGCTGCTGCTGCT	0.557																																						ENST00000258439.2																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						c.(478-483)cat>ca		transmembrane protein 127																																				SO:0001651	inframe_deletion	55654				negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane		g.chr2:96919781_96919783delTGC	AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454	ENST00000258439.3:c.480_482delGCA	2.37:g.96919790_96919792delTGC	ENSP00000258439:p.Gln160del					TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del|TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del	p.QH160del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN			4	736_738	-			160					D3DXH0	In_Frame_Del	DEL	ENST00000258439.3	37	c.480_482delGCA	CCDS2018.1																																																																																				0.557	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252845.3	NM_017849		10	418						10	418	---	---	---	---
LIPT1	51601	broad.mit.edu	37	2	99778781	99778781	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr2:99778781delA	ENST00000393473.2	+	3	585	c.361delA	c.(361-363)aaafs	p.K123fs	LIPT1_ENST00000340066.1_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000393471.2_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000393474.3_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000393477.3_Frame_Shift_Del_p.K123fs|MRPL30_ENST00000410042.1_Intron	NM_001204830.1|NM_015929.3	NP_001191759.1|NP_057013.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	123	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				cellular protein modification process (GO:0006464)|lipid metabolic process (GO:0006629)|protein lipoylation (GO:0009249)	mitochondrion (GO:0005739)	transferase activity, transferring acyl groups (GO:0016746)			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	CTTTACAACCAAAAAAAAGTA	0.388																																					GBM(84;665 1268 21657 25485 30647)	ENST00000393477.3																			0				large_intestine(6)|lung(1)	7						c.(361-363)aafs		lipoyltransferase 1	Lipoic Acid(DB00166)						47.0	46.0	46.0					2																	99778781		2203	4300	6503	SO:0001589	frameshift_variant	51601				lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity	g.chr2:99778781delA	AB017566	CCDS2039.1	2q11.2	2010-11-25			ENSG00000144182	ENSG00000144182	2.3.1.181		29569	protein-coding gene	gene with protein product		610284				10103005	Standard	NM_145197		Approved	MGC12290, MGC13378	uc002szq.4	Q9Y234	OTTHUMG00000130640	ENST00000393473.2:c.361delA	2.37:g.99778781delA	ENSP00000377115:p.Lys123fs					MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000393474.3_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000393471.2_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000393473.2_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000340066.1_Frame_Shift_Del_p.K123fs	p.K123fs	NM_145197.2	NP_660198.1	Q9Y234	LIPT_HUMAN			4	713	+			123					Q4ZFZ1	Frame_Shift_Del	DEL	ENST00000393473.2	37	c.361delA	CCDS2039.1																																																																																				0.388	LIPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253128.1	NM_015929		7	319						7	319	---	---	---	---
PLEKHA3	65977	broad.mit.edu	37	2	179343217	179343217	+	5'Flank	DEL	T	T	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr2:179343217delT	ENST00000234453.5	+	0	0				FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000434643.2_Frame_Shift_Del_p.T4fs|FKBP7_ENST00000424785.2_Frame_Shift_Del_p.T4fs	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3							Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			AAATGCATGGTTTTTGGCATC	0.522																																						ENST00000424785.2																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(10-12)ccfs		FK506 binding protein 7							113.0	133.0	127.0					2																	179343217		2202	4300	6502	SO:0001631	upstream_gene_variant	51661				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:179343217delT	AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"""Pleckstrin homology (PH) domain containing"""	14338	protein-coding gene	gene with protein product	"""four-phosphate-adaptor protein 1"""	607774	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"""			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446		2.37:g.179343217delT	Exception_encountered					FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000434643.2_Frame_Shift_Del_p.T4fs	p.T4fs	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		1	68	-			4					Q4ZG69|Q86TQ1|Q9NXT3	Frame_Shift_Del	DEL	ENST00000234453.5	37	c.10delA	CCDS33336.1																																																																																				0.522	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2	NM_019091		7	1010						7	1010	---	---	---	---
AAMP	14	broad.mit.edu	37	2	219134766	219134766	+	Frame_Shift_Del	DEL	G	G	-	rs368777489		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr2:219134766delG	ENST00000248450.4	-	1	214	c.44delC	c.(43-45)ccafs	p.P15fs	AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs|AAMP_ENST00000420660.1_5'Flank|PNKD_ENST00000248451.3_5'Flank|PNKD_ENST00000273077.4_5'Flank			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	15					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|positive regulation of endothelial cell migration (GO:0010595)|smooth muscle cell migration (GO:0014909)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)	p.L16fs*9(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCTCCAGTGGGGGGGTGTC	0.617																																						ENST00000248450.4																			1	Insertion - Frameshift(1)	p.L16fs*9(1)	ovary(1)	haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11						c.(43-45)cafs		angio-associated, migratory cell protein							151.0	171.0	164.0					2																	219134766		2203	4300	6503	SO:0001589	frameshift_variant	14				angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding	g.chr2:219134766delG	AB209790	CCDS33378.1	2q	2013-01-10			ENSG00000127837	ENSG00000127837		"""WD repeat domain containing"""	18	protein-coding gene	gene with protein product		603488				7743515	Standard	XM_005246325		Approved		uc002vhk.3	Q13685	OTTHUMG00000155202	ENST00000248450.4:c.44delC	2.37:g.219134766delG	ENSP00000248450:p.Pro15fs					AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs	p.P15fs			Q13685	AAMP_HUMAN		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	214	-		Renal(207;0.0474)	15					Q8WUJ9|Q96H92	Frame_Shift_Del	DEL	ENST00000248450.4	37	c.44delC	CCDS33378.1																																																																																				0.617	AAMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338756.1	NM_001087		10	1959						10	1959	---	---	---	---
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	TCC	-	rs199680376		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr2:242738494_242738496delTCC	ENST00000192314.6	+	2	175_177	c.44_46delTCC	c.(43-48)atcctc>atc	p.L20del	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	20					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)	p.L16I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		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)		TTCCGGGTCATCCTCCTCCTCCT	0.631																																						ENST00000192314.6																			1	Substitution - Missense(1)	p.L16I(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14						c.(43-48)atc>a		galactose-3-O-sulfotransferase 2																																				SO:0001651	inframe_deletion	64090				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	g.chr2:242738494_242738496delTCC	AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"""Sulfotransferases, membrane-bound"""	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.44_46delTCC	2.37:g.242738503_242738505delTCC	ENSP00000192314:p.Leu20del						p.IL15del	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_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)	2	175_177	+		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)	15					Q17RK0|Q57Z52	In_Frame_Del	DEL	ENST00000192314.6	37	c.44_46delTCC	CCDS33427.1																																																																																				0.631	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322792.1	NM_022134		9	277						9	277	---	---	---	---
THRB	7068	broad.mit.edu	37	3	24206519	24206519	+	Intron	DEL	T	T	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr3:24206519delT	ENST00000356447.4	-	5	568				THRB_ENST00000416420.1_Intron|THRB_ENST00000396671.2_Intron|THRB_ENST00000280696.5_Splice_Site_p.K109fs	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta						female courtship behavior (GO:0008050)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of female receptivity (GO:0007621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|sensory perception of sound (GO:0007605)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GGTCCCTACCTTTTTTTTGAG	0.353																																					Melanoma(21;896 1043 15021 37958)	ENST00000280696.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19						c.e1+1		thyroid hormone receptor, beta	Levothyroxine(DB00451)|Liothyronine(DB00279)						54.0	54.0	54.0					3																	24206519		876	1991	2867	SO:0001627	intron_variant	7068				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr3:24206519delT		CCDS2641.1	3p24.2	2013-01-16	2011-05-19		ENSG00000151090	ENSG00000151090		"""Nuclear hormone receptors"""	11799	protein-coding gene	gene with protein product	"""avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2"", ""oncogene ERBA2"", ""generalized resistance to thyroid hormone"", ""thyroid hormone receptor beta 1"""	190160	"""thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2)"", ""pituitary resistance to thyroid hormone"", ""thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)"""	ERBA2, PRTH		1973914, 8040303	Standard	NM_000461		Approved	THRB1, THRB2, NR1A2, THR1, ERBA-BETA, GRTH	uc003ccy.4	P10828	OTTHUMG00000130478	ENST00000356447.4:c.284-12538A>-	3.37:g.24206519delT						THRB_ENST00000356447.4_Intron|THRB_ENST00000396671.2_Intron|THRB_ENST00000416420.1_Intron	p.K109_splice			P10828	THB_HUMAN			1	567	-			94					B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41	Splice_Site	DEL	ENST00000356447.4	37	c.328_splice	CCDS2641.1																																																																																				0.353	THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252877.3	NM_000461		8	192						8	192	---	---	---	---
QRICH1	54870	broad.mit.edu	37	3	49094314	49094316	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr3:49094314_49094316delTGC	ENST00000395443.2	-	3	1789_1791	c.1317_1319delGCA	c.(1315-1320)cagcaa>caa	p.439_440QQ>Q	QRICH1_ENST00000424300.1_In_Frame_Del_p.439_440QQ>Q|QRICH1_ENST00000357496.2_In_Frame_Del_p.439_440QQ>Q|QRICH1_ENST00000479449.1_5'UTR	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	439	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AACTTGGAgttgctgctgctgct	0.562																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1315-1320)caa>ca		glutamine-rich 1																																				SO:0001651	inframe_deletion	54870							g.chr3:49094314_49094316delTGC		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1317_1319delGCA	3.37:g.49094323_49094325delTGC	ENSP00000378830:p.Gln440del					QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del|QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del|QRICH1_ENST00000479449.1_5'UTR	p.QQ439del	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1789_1791	-			439			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	In_Frame_Del	DEL	ENST00000395443.2	37	c.1317_1319delGCA	CCDS2787.1																																																																																				0.562	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		9	292						9	292	---	---	---	---
IL17RB	55540	broad.mit.edu	37	3	53889347	53889347	+	Frame_Shift_Del	DEL	A	A	-	rs527321039		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr3:53889347delA	ENST00000288167.3	+	6	517	c.508delA	c.(508-510)aaafs	p.K172fs		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	172					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		AATGAAATATAAAAAAAAGTG	0.383																																						ENST00000288167.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13						c.(508-510)aafs		interleukin 17 receptor B							42.0	43.0	42.0					3																	53889347		2203	4300	6503	SO:0001589	frameshift_variant	55540				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr3:53889347delA	AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"""Interleukins and interleukin receptors"""	18015	protein-coding gene	gene with protein product		605458	"""interleukin 17B receptor"""	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.508delA	3.37:g.53889347delA	ENSP00000288167:p.Lys172fs						p.K172fs	NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	6	517	+			172					Q9BPZ0|Q9NRL4|Q9NRM5	Frame_Shift_Del	DEL	ENST00000288167.3	37	c.508delA	CCDS2874.1																																																																																				0.383	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350563.1	NM_172234		7	751						7	751	---	---	---	---
VGLL3	389136	broad.mit.edu	37	3	87027857	87027859	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr3:87027857_87027859delCTC	ENST00000398399.2	-	2	583_585	c.220_222delGAG	c.(220-222)gagdel	p.E74del	VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCTGGtctttctcctcctcctcc	0.502																																						ENST00000398399.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(220-222)del		vestigial like 3 (Drosophila)				1,38,3879		0,0,1,6,26,1926						5.1	1.0			64	3,85,7944		0,0,3,22,41,3950	no	codingComplex	VGLL3	NM_016206.2		0,0,4,28,67,5876	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0956,0.9954,1.0628				4,123,11823				SO:0001651	inframe_deletion	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87027857_87027859delCTC	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.220_222delGAG	3.37:g.87027866_87027868delCTC	ENSP00000381436:p.Glu74del					VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del	p.E74del	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	2	583_585	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	74						In_Frame_Del	DEL	ENST00000398399.2	37	c.220_222delGAG	CCDS43110.1																																																																																				0.502	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		7	188						7	188	---	---	---	---
TMCC1	23023	broad.mit.edu	37	3	129546680	129546682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr3:129546680_129546682delGCA	ENST00000393238.3	-	3	880_882	c.540_542delTGC	c.(538-543)gctgca>gca	p.180_181AA>A	TMCC1_ENST00000426664.2_In_Frame_Del_p.66_67AA>A	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	180						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TGGTAGACATgcagcagcagcag	0.483																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(538-543)gca>gc		transmembrane and coiled-coil domain family 1																																				SO:0001651	inframe_deletion	23023					integral to membrane		g.chr3:129546680_129546682delGCA	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.540_542delTGC	3.37:g.129546689_129546691delGCA	ENSP00000376930:p.Ala181del					TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del	p.AA180del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			3	880_882	-			180					A8K5Y3|B4DE04|Q68E06|Q8IXM8	In_Frame_Del	DEL	ENST00000393238.3	37	c.540_542delTGC	CCDS33855.1																																																																																				0.483	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		8	380						8	380	---	---	---	---
DHX36	170506	broad.mit.edu	37	3	154032977	154032978	+	Frame_Shift_Ins	INS	-	-	T	rs373108427		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr3:154032977_154032978insT	ENST00000496811.1	-	3	540_541	c.460_461insA	c.(460-462)atgfs	p.M154fs	DHX36_ENST00000329463.5_Frame_Shift_Ins_p.M154fs|DHX36_ENST00000544526.1_Frame_Shift_Ins_p.M154fs|DHX36_ENST00000308361.6_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_ENST00000329463.5_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000308361.6_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000544526.1_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	235						8	235	---	---	---	---
EIF4G1	1981	broad.mit.edu	37	3	184039744	184039746	+	In_Frame_Del	DEL	GAA	GAA	-	rs530167757	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr3:184039744_184039746delGAA	ENST00000346169.2	+	10	1643_1645	c.1372_1374delGAA	c.(1372-1374)gaadel	p.E465del	EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000342981.4_In_Frame_Del_p.E465del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	465	Poly-Glu.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAGGAAATGgaagaagaagaag	0.562																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(1372-1374)del		eukaryotic translation initiation factor 4 gamma, 1																																				SO:0001651	inframe_deletion	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184039744_184039746delGAA	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1372_1374delGAA	3.37:g.184039753_184039755delGAA	ENSP00000316879:p.Glu465del					EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000346169.2_In_Frame_Del_p.E465del	p.E465del	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		9	1786_1788	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		465			Poly-Glu.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	In_Frame_Del	DEL	ENST00000346169.2	37	c.1372_1374delGAA	CCDS3259.1																																																																																				0.562	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		11	326						11	326	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195395356	195395357	+	lincRNA	DEL	TG	TG	-	rs113879828		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr3:195395356_195395357delTG	ENST00000445430.1	+	0	796									long intergenic non-protein coding RNA 969																		CGTGGGCCACTGTGTGCAGTCA	0.604																																						ENST00000445430.1																			0																																																			0							g.chr3:195395356_195395357delTG	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195395360_195395361delTG														0	796	+									RNA	DEL	ENST00000445430.1	37																																																																																						0.604	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			12	137						12	137	---	---	---	---
N4BP2	55728	broad.mit.edu	37	4	40144449	40144449	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr4:40144449delA	ENST00000261435.6	+	15	5358	c.4942delA	c.(4942-4944)aaafs	p.K1649fs		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1649					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TCGGATAGGGAAAAAAAATGT	0.398																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(4942-4944)aafs		NEDD4 binding protein 2							88.0	88.0	88.0					4																	40144449		2203	4300	6503	SO:0001589	frameshift_variant	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40144449delA	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.4942delA	4.37:g.40144449delA	ENSP00000261435:p.Lys1649fs						p.K1649fs	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			15	5358	+			1649					A0AVR3|Q9NVK2|Q9P2D4	Frame_Shift_Del	DEL	ENST00000261435.6	37	c.4942delA	CCDS3457.1																																																																																				0.398	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		7	352						7	352	---	---	---	---
C4orf26	152816	broad.mit.edu	37	4	76489680	76489680	+	3'UTR	DEL	A	A	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr4:76489680delA	ENST00000311623.4	+	0	459				C4orf26_ENST00000435974.2_Frame_Shift_Del_p.A156fs	NM_001257072.1|NM_178497.3	NP_001244001.1|NP_848592.2	Q17RF5	CD026_HUMAN	chromosome 4 open reading frame 26							extracellular region (GO:0005576)				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ATACTGAAGCAAAAAAAAGCC	0.363																																						ENST00000435974.2																			0				kidney(1)|large_intestine(4)|stomach(1)	6						c.(466-468)gcfs		chromosome 4 open reading frame 26							57.0	63.0	61.0					4																	76489680		2197	4293	6490	SO:0001624	3_prime_UTR_variant	152816					extracellular region		g.chr4:76489680delA	AK074237	CCDS3569.1, CCDS56334.1, CCDS75142.1	4q21.1	2012-10-31			ENSG00000174792	ENSG00000174792			26300	protein-coding gene	gene with protein product		614829				22901946	Standard	NM_001206981		Approved	FLJ23657	uc011cbo.2	Q17RF5	OTTHUMG00000130104	ENST00000311623.4:c.*31A>-	4.37:g.76489680delA						C4orf26_ENST00000311623.4_3'UTR	p.A156fs	NM_001206981.1	NP_001193910.1	Q17RF5	CD026_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		3	486	+			0					B4DTI3|E7ETQ0|Q8TEC3	Frame_Shift_Del	DEL	ENST00000311623.4	37	c.468delA	CCDS3569.1																																																																																				0.363	C4orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252410.1	NM_178497		8	357						8	357	---	---	---	---
CDKL2	8999	broad.mit.edu	37	4	76539579	76539580	+	Frame_Shift_Ins	INS	-	-	T	rs533914363		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr4:76539579_76539580insT	ENST00000429927.2	-	3	925_926	c.222_223insA	c.(220-225)aaacgafs	p.R75fs	CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.R75fs	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	75	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGGTACCATCGTTTTTTTTTCT	0.322																																						ENST00000429927.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22						c.(220-225)aagatgfs		cyclin-dependent kinase-like 2 (CDC2-related kinase)																																				SO:0001589	frameshift_variant	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76539579_76539580insT	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.223dupA	4.37:g.76539588_76539588dupT	ENSP00000412365:p.Arg75fs					CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.M75fs	p.M75fs	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		3	925_926	-			75			Protein kinase.		B2R695	Frame_Shift_Ins	INS	ENST00000429927.2	37	c.222_223insA	CCDS3570.1																																																																																				0.322	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		15	275						15	275	---	---	---	---
ADH1C	126	broad.mit.edu	37	4	100261040	100261041	+	RNA	INS	-	-	A	rs3216150|rs373899105	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr4:100261040_100261041insA	ENST00000515683.1	-	0	1316					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	AGTGCTTTCACAAAAAAAATCA	0.327													|||unknown(NO_COVERAGE)	1065	0.21266	0.0946	0.2709	5008	,	,		17244	0.0764		0.4026	False		,,,				2504	0.2761					ENST00000515683.1																			0													alcohol dehydrogenase 1C (class I), gamma polypeptide	Fomepizole(DB01213)|NADH(DB00157)																																					126				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr4:100261040_100261041insA	M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100261048_100261048dupA								NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	0	1316	-								Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	RNA	INS	ENST00000515683.1	37																																																																																						0.327	ADH1C-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000364877.2	NM_000669		7	20						7	20	---	---	---	---
QRFPR	84109	broad.mit.edu	37	4	122250740	122250740	+	Frame_Shift_Del	DEL	T	T	-	rs545337361	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr4:122250740delT	ENST00000394427.2	-	6	1436	c.1025delA	c.(1024-1026)aatfs	p.N342fs	QRFPR_ENST00000334383.5_3'UTR|Y_RNA_ENST00000384419.1_RNA	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	342					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						AGACAAAACATTTTTTTTGAA	0.333													TTTTTTTT|TTTTTTTT|TTTTTTT|deletion	10	0.00199681	0.0076	0.0	5008	,	,		19485	0.0		0.0	False		,,,				2504	0.0					ENST00000394427.2																			0				endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						c.(1024-1026)atfs		pyroglutamylated RFamide peptide receptor				1,41,4220		0,0,1,6,29,2095	70.0	70.0	70.0			-2.3	0.5	4		71	2,29,8221		0,0,2,14,1,4109	no	codingComplex	QRFPR	NM_198179.2		0,0,3,20,30,6204	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3757,0.9855,0.5833			122250740	3,70,12441	2202	4299	6501	SO:0001589	frameshift_variant	84109					plasma membrane	neuropeptide Y receptor activity	g.chr4:122250740delT	AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.1025delA	4.37:g.122250740delT	ENSP00000377948:p.Asn342fs					QRFPR_ENST00000334383.5_3'UTR	p.N342fs	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN			6	1436	-			342						Frame_Shift_Del	DEL	ENST00000394427.2	37	c.1025delA	CCDS3719.1																																																																																				0.333	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179		7	381						7	381	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183609359	183609359	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr4:183609359delG	ENST00000511685.1	+	12	2199	c.2076delG	c.(2074-2076)atgfs	p.M692fs	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Frame_Shift_Del_p.M692fs			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	692	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GCGTTTGCATGGGGGGGACGT	0.592																																						ENST00000511685.1																			0											c.(2074-2076)atfs		teneurin transmembrane protein 3							109.0	116.0	113.0					4																	183609359		1969	4158	6127	SO:0001589	frameshift_variant	55714							g.chr4:183609359delG	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.2076delG	4.37:g.183609359delG	ENSP00000424226:p.Met692fs					TENM3_ENST00000406950.2_Frame_Shift_Del_p.M692fs|TENM3_ENST00000502950.1_3'UTR	p.M692fs							12	2199	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Frame_Shift_Del	DEL	ENST00000511685.1	37	c.2076delG	CCDS47165.1																																																																																				0.592	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			12	929						12	929	---	---	---	---
SORBS2	8470	broad.mit.edu	37	4	186544620	186544622	+	In_Frame_Del	DEL	GGT	GGT	-	rs562339021		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr4:186544620_186544622delGGT	ENST00000284776.7	-	13	2458_2460	c.1949_1951delACC	c.(1948-1953)caccgc>cgc	p.H650del	SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000431808.1_In_Frame_Del_p.H650del|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_In_Frame_Del_p.H554del|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.H750del|SORBS2_ENST00000449407.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	650	His-rich.				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)			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)		ATGAggtggcggtggtggtggtg	0.522																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				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.(1948-1953)cgc>c		sorbin and SH3 domain containing 2																																				SO:0001651	inframe_deletion	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.chr4:186544620_186544622delGGT		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.1949_1951delACC	4.37:g.186544629_186544631delGGT	ENSP00000284776:p.His650del					SORBS2_ENST00000284776.7_In_Frame_Del_p.HR650del|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del|SORBS2_ENST00000418609.1_In_Frame_Del_p.HR554del|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron	p.HR650del			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	2512_2514	-		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)	650			His-rich.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	In_Frame_Del	DEL	ENST00000284776.7	37	c.1949_1951delACC	CCDS3845.1																																																																																				0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		7	304						7	304	---	---	---	---
FRG1	2483	broad.mit.edu	37	4	190873437	190873439	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr4:190873437_190873439delAAG	ENST00000226798.4	+	3	476_478	c.254_256delAAG	c.(253-258)aaagaa>aaa	p.E86del	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	86					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)		GCTCCACACAAAGAAGGTTTGTG	0.414																																						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.(253-258)aaa>a		FSHD region gene 1				24,4216		0,24,2096						3.5	1.0		dbSNP_134	78	47,8181		0,47,4067	no	coding	FRG1	NM_004477.2		0,71,6163	A1A1,A1R,RR		0.5712,0.566,0.5695				71,12397				SO:0001651	inframe_deletion	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190873437_190873439delAAG	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.254_256delAAG	4.37:g.190873440_190873442delAAG	ENSP00000226798:p.Glu86del					FRG1_ENST00000514482.1_3'UTR	p.KE85del	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)	3	476_478	+		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)	85					A8K775	In_Frame_Del	DEL	ENST00000226798.4	37	c.254_256delAAG	CCDS34121.1																																																																																				0.414	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		7	661						7	661	---	---	---	---
MARVELD2	153562	broad.mit.edu	37	5	68737374	68737375	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr5:68737374_68737375insA	ENST00000325631.5	+	7	1644_1645	c.1570_1571insA	c.(1570-1572)gaafs	p.E524fs	MARVELD2_ENST00000413223.2_Frame_Shift_Ins_p.E408fs	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	524					cell-cell junction organization (GO:0045216)|establishment of endothelial barrier (GO:0061028)|sensory perception of sound (GO:0007605)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		TACATTTCTGGAAAAAAAAGAA	0.322																																						ENST00000325631.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15						c.(1570-1572)aaafs		MARVEL domain containing 2																																				SO:0001589	frameshift_variant	153562				sensory perception of sound	integral to membrane|tight junction		g.chr5:68737374_68737375insA	AK055094	CCDS34175.1, CCDS58956.1	5q13.1	2007-05-01	2004-07-12	2004-07-14	ENSG00000152939	ENSG00000152939			26401	protein-coding gene	gene with protein product	"""tricellulin"""	610572	"""MARVEL (membrane-associating) domain containing 2"", ""deafness, autosomal recessive 49"""	MRVLDC2, DFNB49		17186462	Standard	NM_001038603		Approved	FLJ30532, TRIC	uc003jwq.3	Q8N4S9	OTTHUMG00000162512	ENST00000325631.5:c.1578dupA	5.37:g.68737382_68737382dupA	ENSP00000323264:p.Glu524fs					MARVELD2_ENST00000413223.2_Frame_Shift_Ins_p.K408fs	p.K524fs	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)	7	1644_1645	+		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)	524					A1BQX0|A1BQX1|A8KA97|Q96NM9	Frame_Shift_Ins	INS	ENST00000325631.5	37	c.1570_1571insA	CCDS34175.1																																																																																				0.322	MARVELD2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369583.1	NM_144724		7	284						7	284	---	---	---	---
GTF2H2B	653238	broad.mit.edu	37	5	69730714	69730715	+	RNA	INS	-	-	T			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr5:69730714_69730715insT	ENST00000513202.1	+	0	753					NR_033417.1				general transcription factor IIH, polypeptide 2B (pseudogene)																		CTATGAAGGTGTTTTTTTTTCC	0.322																																						ENST00000513202.1																			0																	31,3641		1,29,1806						1.3	0.0			103	24,7012		0,24,3494	no	intergenic				1,53,5300	A1A1,A1R,RR		0.3411,0.8442,0.5136				55,10653						0							g.chr5:69730714_69730715insT			5q13.2	2011-09-01	2011-09-01		ENSG00000226259	ENSG00000226259		"""General transcription factors"""	31393	pseudogene	pseudogene			"""general transcription factor IIH, polypeptide 2B"""				Standard	NR_033417		Approved	DKFZP686M0199	uc021yab.1		OTTHUMG00000162394		5.37:g.69730723_69730723dupT								NR_033417.1						0	753	+									RNA	INS	ENST00000513202.1	37																																																																																						0.322	GTF2H2B-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396209.1	NM_001098729		9	215						9	215	---	---	---	---
CTC-338M12.9	0	broad.mit.edu	37	5	180708776	180708777	+	lincRNA	INS	-	-	G	rs140221514|rs61118356		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr5:180708776_180708777insG	ENST00000412295.2	+	0	238																											gggcggtaggagggggctggag	0.728																																						ENST00000412295.2																			0																																																			0							g.chr5:180708776_180708777insG																													5.37:g.180708781_180708781dupG														0	238	+									RNA	INS	ENST00000412295.2	37																																																																																						0.728	CTC-338M12.9-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000372940.1			9	28						9	28	---	---	---	---
BMP6	654	broad.mit.edu	37	6	7727523	7727525	+	In_Frame_Del	DEL	AGC	AGC	-	rs372792689|rs7745236	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr6:7727523_7727525delAGC	ENST00000283147.6	+	1	494_496	c.335_337delAGC	c.(334-339)gagcag>gag	p.Q118del		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	118					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)	p.Q118delQ(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					cagcaggaggagcagcagcagca	0.709																																						ENST00000283147.6																			1	Deletion - In frame(1)	p.Q118delQ(1)	kidney(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23						c.(334-339)gag>g		bone morphogenetic protein 6				104,182,3092		24,2,54,16,148,1445						-1.3	0.9			7	66,400,6460		8,0,50,31,338,3036	no	codingComplex	BMP6	NM_001718.4		32,2,104,47,486,4481	A1A1,A1A2,A1R,A2A2,A2R,RR		6.7283,8.4665,7.2981				170,582,9552				SO:0001651	inframe_deletion	654				BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr6:7727523_7727525delAGC	AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.335_337delAGC	6.37:g.7727532_7727534delAGC	ENSP00000283147:p.Gln118del						p.EQ112del	NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN			1	494_496	+	Ovarian(93;0.0721)		112					Q5TCP3	In_Frame_Del	DEL	ENST00000283147.6	37	c.335_337delAGC	CCDS4503.1																																																																																				0.709	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718		8	89						8	89	---	---	---	---
BTN2A3P	54718	broad.mit.edu	37	6	26422388	26422390	+	RNA	DEL	CCT	CCT	-	rs113134648	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr6:26422388_26422390delCCT	ENST00000466808.2	+	0	42_44							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											GGCCAGCCTCCCTCCTCCTCCTC	0.586																																						ENST00000466808.2																			0																	383,304,2,3575		10,8,0,355,12,0,272,0,2,1473						0.4	0.0		dbSNP_134	150	684,576,1,6991		22,7,0,633,28,0,513,0,1,2922	no	intergenic				32,15,0,988,40,0,785,0,3,4395	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		15.2811,16.1585,15.5801				1067,880,3,10566						0							g.chr6:26422388_26422390delCCT	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.26422397_26422399delCCT														0	42_44	+								A6NEF4	RNA	DEL	ENST00000466808.2	37																																																																																						0.586	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		7	450						7	450	---	---	---	---
MAS1L	116511	broad.mit.edu	37	6	29455156	29455157	+	Frame_Shift_Del	DEL	AC	AC	-	rs200721788|rs146992654|rs372287572|rs577687250	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr6:29455156_29455157delAC	ENST00000377127.3	-	1	581_582	c.523_524delGT	c.(523-525)gtcfs	p.V175fs		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	175					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GGGGAAGAGGACACACACACAC	0.495														7	0.00139776	0.0045	0.0	5008	,	,		21251	0.0		0.0	False		,,,				2504	0.001				NSCLC(153;755 1987 3859 11251 32945)	ENST00000377127.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						c.(523-525)cfs		MAS1 oncogene-like				52,4210		1,50,2080						-4.7	0.0		dbSNP_134	66	110,8144		1,108,4018	yes	frameshift	MAS1L	NM_052967.1		2,158,6098	A1A1,A1R,RR		1.3327,1.2201,1.2943				162,12354				SO:0001589	frameshift_variant	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29455156_29455157delAC	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.523_524delGT	6.37:g.29455166_29455167delAC	ENSP00000366331:p.Val175fs						p.V175fs	NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN			1	581_582	-			175					Q5SUN5	Frame_Shift_Del	DEL	ENST00000377127.3	37	c.523_524delGT	CCDS4661.1																																																																																				0.495	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		9	325						9	325	---	---	---	---
HLA-F	3134	broad.mit.edu	37	6	29694802	29694803	+	IGR	INS	-	-	T	rs17875385		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr6:29694802_29694803insT	ENST00000376861.1	+	0	1544				HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000440587.2_Intron|HLA-F_ENST00000259951.7_Frame_Shift_Ins_p.F394fs			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F						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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGTGGATCTTGTTTTTTTTGTG	0.535																																						ENST00000259951.7																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(1177-1182)ttttttfs		major histocompatibility complex, class I, F				16,3332		2,12,1660						-0.3	0.3		dbSNP_124	229	17,6555		4,9,3273	no	frameshift	HLA-F	NM_001098479.1		6,21,4933	A1A1,A1R,RR		0.2587,0.4779,0.3327				33,9887				SO:0001628	intergenic_variant	3134				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29694802_29694803insT	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156		6.37:g.29694810_29694810dupT						HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000440587.2_Intron	p.FF393fs	NM_001098479.1	NP_001091949.1	P30511	HLAF_HUMAN			7	1235_1236	+			0					Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Frame_Shift_Ins	INS	ENST00000376861.1	37	c.1179_1180insT	CCDS43438.1																																																																																				0.535	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950		15	915						15	915	---	---	---	---
WISP3	8838	broad.mit.edu	37	6	112389434	112389434	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr6:112389434delA	ENST00000368666.2	+	4	902	c.616delA	c.(616-618)aaafs	p.K208fs	WISP3_ENST00000604763.1_Frame_Shift_Del_p.K208fs|WISP3_ENST00000409166.1_5'UTR|WISP3_ENST00000368663.3_Frame_Shift_Del_p.K185fs|WISP3_ENST00000361714.1_Frame_Shift_Del_p.K226fs|WISP3_ENST00000230529.5_Frame_Shift_Del_p.K208fs	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	208	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		ACTTATTTGGAAAAAAAAATG	0.333																																						ENST00000361714.1																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(670-672)aafs		WNT1 inducible signaling pathway protein 3			,	45,4219		4,37,2091	45.0	45.0	45.0		,	5.8	1.0	6		46	70,8180		10,50,4065	no	frameshift,frameshift	WISP3	NM_198239.1,NM_003880.3	,	14,87,6156	A1A1,A1R,RR		0.8485,1.0553,0.919	,	,	112389434	115,12399	2203	4298	6501	SO:0001589	frameshift_variant	8838				cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding	g.chr6:112389434delA	AF100781	CCDS5097.1, CCDS5098.1	6q21	2014-05-06			ENSG00000112761	ENSG00000112761			12771	protein-coding gene	gene with protein product		603400				9843955	Standard	NM_003880		Approved	CCN6	uc003pvo.3	O95389	OTTHUMG00000185101	ENST00000368666.2:c.616delA	6.37:g.112389434delA	ENSP00000357655:p.Lys208fs					WISP3_ENST00000368666.2_Frame_Shift_Del_p.K208fs|WISP3_ENST00000604763.1_Frame_Shift_Del_p.K208fs|WISP3_ENST00000368663.3_Frame_Shift_Del_p.K185fs|WISP3_ENST00000409166.1_5'UTR|WISP3_ENST00000230529.5_Frame_Shift_Del_p.K208fs	p.K226fs			O95389	WISP3_HUMAN		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	4	715	+		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	208			TSP type-1.		Q3KR29|Q5H8W4|Q6UXH6	Frame_Shift_Del	DEL	ENST00000368666.2	37	c.670delA	CCDS5098.1																																																																																				0.333	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041873.2	NM_003880		7	221						7	221	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146755219	146755221	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr6:146755219_146755221delGAG	ENST00000282753.1	+	8	3107_3109	c.2872_2874delGAG	c.(2872-2874)gagdel	p.E961del	GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000361719.2_In_Frame_Del_p.E961del|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	961					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TTACAACGTAGAGGAGGAGGAGG	0.586																																						ENST00000361719.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(2872-2874)del		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)		,	5,4255		2,1,2127					,	0.6	0.8			106	4,8246		2,0,4123	no	utr-3,coding	GRM1	NM_001114329.1,NM_000838.3	,	4,1,6250	A1A1,A1R,RR		0.0485,0.1174,0.0719	,	,		9,12501				SO:0001651	inframe_deletion	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755219_146755221delGAG	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2872_2874delGAG	6.37:g.146755228_146755230delGAG	ENSP00000282753:p.Glu961del					GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.E961del	p.E961del	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3342_3344	+		Ovarian(120;0.0387)	961					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	In_Frame_Del	DEL	ENST00000282753.1	37	c.2872_2874delGAG	CCDS5209.1																																																																																				0.586	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		7	851						7	851	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146755630	146755632	+	In_Frame_Del	DEL	GAC	GAC	-	rs568155311		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr6:146755630_146755632delGAC	ENST00000282753.1	+	8	3518_3520	c.3283_3285delGAC	c.(3283-3285)gacdel	p.D1099del	GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000361719.2_In_Frame_Del_p.D1099del|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1099	Asp/Glu-rich (acidic).				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CCCGCCCGCGGACGACGACGACG	0.65																																						ENST00000361719.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(3283-3285)del		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)																																			SO:0001651	inframe_deletion	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755630_146755632delGAC	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3283_3285delGAC	6.37:g.146755639_146755641delGAC	ENSP00000282753:p.Asp1099del					GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.D1099del	p.D1099del	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3753_3755	+		Ovarian(120;0.0387)	1099			Asp/Glu-rich (acidic).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	In_Frame_Del	DEL	ENST00000282753.1	37	c.3283_3285delGAC	CCDS5209.1																																																																																				0.650	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		12	724						12	724	---	---	---	---
OGDH	4967	broad.mit.edu	37	7	44684936	44684936	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr7:44684936delT	ENST00000222673.5	+	3	275	c.233delT	c.(232-234)attfs	p.I78fs	OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	78					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.R81fs*19(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	TCATGGGACATTTTTTTTCGC	0.577																																						ENST00000222673.5																			1	Deletion - Frameshift(1)	p.R81fs*19(1)	breast(1)	breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(232-234)atfs		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)						127.0	121.0	123.0					7																	44684936		2203	4300	6503	SO:0001589	frameshift_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44684936delT	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.233delT	7.37:g.44684936delT	ENSP00000222673:p.Ile78fs					OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs|OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs	p.I78fs	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			3	275	+			78					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Frame_Shift_Del	DEL	ENST00000222673.5	37	c.233delT	CCDS34627.1																																																																																				0.577	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			9	576						9	576	---	---	---	---
TMEM60	85025	broad.mit.edu	37	7	77423460	77423460	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr7:77423460delT	ENST00000257663.3	-	2	607	c.231delA	c.(229-231)aaafs	p.K77fs		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	77						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)	4						GGTACCAGGCTTTTTTTTTAA	0.408																																						ENST00000257663.3																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(229-231)aafs		transmembrane protein 60							142.0	141.0	141.0					7																	77423460		2203	4300	6503	SO:0001589	frameshift_variant	85025					integral to membrane		g.chr7:77423460delT	AF260336	CCDS5593.1	7q11.23	2005-07-25	2005-07-25	2005-07-25	ENSG00000135211	ENSG00000135211			21754	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 35"""	C7orf35			Standard	NM_032936		Approved	DC32	uc003ugn.3	Q9H2L4	OTTHUMG00000130689	ENST00000257663.3:c.231delA	7.37:g.77423460delT	ENSP00000257663:p.Lys77fs						p.K77fs	NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN			2	607	-			77					A4D1C3|Q86UM0	Frame_Shift_Del	DEL	ENST00000257663.3	37	c.231delA	CCDS5593.1																																																																																				0.408	TMEM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253185.2	NM_032936		9	425						9	425	---	---	---	---
MAGI2	9863	broad.mit.edu	37	7	79082533	79082533	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr7:79082533delC	ENST00000354212.4	-	1	357	c.104delG	c.(103-105)ggcfs	p.G35fs	MAGI2-AS3_ENST00000424477.1_RNA|MAGI2-AS3_ENST00000448195.1_RNA|MAGI2_ENST00000522391.1_Frame_Shift_Del_p.G35fs|MAGI2-AS3_ENST00000422093.1_RNA|MAGI2-AS3_ENST00000446159.1_RNA|MAGI2-AS3_ENST00000429408.1_RNA|MAGI2-AS3_ENST00000414797.1_RNA|MAGI2_ENST00000419488.1_Frame_Shift_Del_p.G35fs|MAGI2-AS3_ENST00000426835.1_RNA|MAGI2-AS3_ENST00000451809.1_RNA	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	35	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ATTCTCGGCGCCCCCCTTCAG	0.577																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(103-105)gcfs		membrane associated guanylate kinase, WW and PDZ domain containing 2							75.0	86.0	82.0					7																	79082533		2203	4300	6503	SO:0001589	frameshift_variant	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:79082533delC	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.104delG	7.37:g.79082533delC	ENSP00000346151:p.Gly35fs					MAGI2-AS3_ENST00000429408.1_RNA|MAGI2_ENST00000419488.1_Frame_Shift_Del_p.G35fs|MAGI2-AS3_ENST00000426835.1_RNA|MAGI2_ENST00000522391.1_Frame_Shift_Del_p.G35fs|MAGI2-AS3_ENST00000446159.1_RNA	p.G35fs	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			1	357	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	35			PDZ 1.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Frame_Shift_Del	DEL	ENST00000354212.4	37	c.104delG	CCDS5594.1																																																																																				0.577	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		7	758						7	758	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91671392	91671393	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr7:91671392_91671393delAG	ENST00000359028.2	+	20	5211_5212	c.4986_4987delAG	c.(4984-4989)tcagagfs	p.E1663fs	AKAP9_ENST00000356239.3_Frame_Shift_Del_p.E1651fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.E1663fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1663					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACCTGGTTTCAGAGAGAGAGAG	0.411			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(4984-4989)tcagfs		A kinase (PRKA) anchor protein 9																																				SO:0001589	frameshift_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91671392_91671393delAG	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.4986_4987delAG	7.37:g.91671402_91671403delAG	ENSP00000351922:p.Glu1663fs					AKAP9_ENST00000356239.3_Frame_Shift_Del_p.SE1650fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.SE1662fs	p.SE1662fs			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		20	5211_5212	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1662					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Del	DEL	ENST00000359028.2	37	c.4986_4987delAG																																																																																					0.411	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		11	368						11	368	---	---	---	---
GPC2	221914	broad.mit.edu	37	7	99771554	99771554	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr7:99771554delC	ENST00000292377.2	-	5	963	c.796delG	c.(796-798)gtcfs	p.V266fs	GPC2_ENST00000471050.1_5'UTR	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	266					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuron differentiation (GO:0030182)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	anchored component of membrane (GO:0031225)|endoplasmic reticulum (GO:0005783)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGTGAGGGGACCCCCCGGCAC	0.642																																						ENST00000292377.2																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18						c.(796-798)tcfs		glypican 2							84.0	94.0	90.0					7																	99771554		2203	4300	6503	SO:0001589	frameshift_variant	221914					anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr7:99771554delC	BX375153	CCDS5689.1	7q22.1	2007-02-16	2007-02-15		ENSG00000213420	ENSG00000213420		"""Proteoglycans / Cell Surface : Glypicans"""	4450	protein-coding gene	gene with protein product	"""glypican proteoglycan 2, cerebroglycan proteoglycan"""		"""glypican 2 (cerebroglycan)"""			8294498	Standard	NM_152742		Approved	cerebroglycan, FLJ38962, DKFZp547M109	uc003utv.3	Q8N158	OTTHUMG00000154894	ENST00000292377.2:c.796delG	7.37:g.99771554delC	ENSP00000292377:p.Val266fs					GPC2_ENST00000471050.1_5'UTR	p.V266fs	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN			5	963	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		266					A4D2A7	Frame_Shift_Del	DEL	ENST00000292377.2	37	c.796delG	CCDS5689.1																																																																																				0.642	GPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337556.1	NM_152742		9	965						9	965	---	---	---	---
XRCC2	7516	broad.mit.edu	37	7	152346220	152346220	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr7:152346220delA	ENST00000359321.1	-	3	435	c.350delT	c.(349-351)ttgfs	p.L117fs	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	117					centrosome organization (GO:0051297)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of neurogenesis (GO:0050769)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|strand invasion (GO:0042148)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)	p.V118fs*5(1)		NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		GCAGTACACCAAAAAAAATCT	0.393								Homologous recombination																														ENST00000359321.1																			1	Insertion - Frameshift(1)	p.V118fs*5(1)	NS(1)	NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11						c.(349-351)tgfs	Homologous recombination	X-ray repair complementing defective repair in Chinese hamster cells 2							79.0	80.0	80.0					7																	152346220		2203	4300	6503	SO:0001589	frameshift_variant	7516				meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr7:152346220delA	Y08837	CCDS5933.1	7q36	2006-05-04			ENSG00000196584	ENSG00000196584			12829	protein-coding gene	gene with protein product	"""RAD51-like"""	600375				7607692, 10422536	Standard	NM_005431		Approved		uc003wld.3	O43543	OTTHUMG00000151470	ENST00000359321.1:c.350delT	7.37:g.152346220delA	ENSP00000352271:p.Leu117fs					XRCC2_ENST00000495707.1_5'UTR	p.L117fs	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)	3	435	-		all_hematologic(28;0.0592)|Prostate(32;0.081)	117					B2R925	Frame_Shift_Del	DEL	ENST00000359321.1	37	c.350delT	CCDS5933.1																																																																																				0.393	XRCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322783.1	NM_005431		9	347						9	347	---	---	---	---
RAB11FIP1	80223	broad.mit.edu	37	8	37728933	37728933	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr8:37728933delT	ENST00000330843.4	-	4	3399	c.3387delA	c.(3385-3387)aaafs	p.K1129fs	RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1129					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTGCTGTGGCTTTTTTTTGAG	0.542											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330843.4																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(3385-3387)aafs		RAB11 family interacting protein 1 (class I)							134.0	143.0	140.0					8																	37728933		2203	4300	6503	SO:0001589	frameshift_variant	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37728933delT	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.3387delA	8.37:g.37728933delT	ENSP00000331342:p.Lys1129fs		OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	872	RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000524118.1_Intron	p.K1129fs	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	3399	-		Lung NSC(58;0.118)|all_lung(54;0.195)	1129					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Frame_Shift_Del	DEL	ENST00000330843.4	37	c.3387delA	CCDS34882.1																																																																																				0.542	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		12	824						12	824	---	---	---	---
SULF1	23213	broad.mit.edu	37	8	70514026	70514026	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr8:70514026delT	ENST00000260128.4	+	10	1740	c.1023delT	c.(1021-1023)cctfs	p.P341fs	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs|SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs|SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	341					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTCGTGTGCCTTTTTTTATTC	0.408																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1021-1023)ccfs		sulfatase 1							396.0	343.0	361.0					8																	70514026		2203	4300	6503	SO:0001589	frameshift_variant	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70514026delT	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1023delT	8.37:g.70514026delT	ENSP00000260128:p.Pro341fs					SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs|SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs|SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs	p.P341fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		10	1740	+	Breast(64;0.0654)		341					Q86YV8|Q8NCA2|Q9UPS5	Frame_Shift_Del	DEL	ENST00000260128.4	37	c.1023delT	CCDS6204.1																																																																																				0.408	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		8	1127						8	1127	---	---	---	---
PSIP1	11168	broad.mit.edu	37	9	15465556	15465557	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr9:15465556_15465557delTC	ENST00000380733.4	-	16	1897_1898	c.1554_1555delGA	c.(1552-1557)gagactfs	p.ET518fs	PSIP1_ENST00000380738.4_Frame_Shift_Del_p.ET518fs			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	518					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		GATATTTCAGTCTCTCTCTCTT	0.366																																						ENST00000380733.4																			0				breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9						c.(1552-1557)gactfs		PC4 and SFRS1 interacting protein 1																																				SO:0001589	frameshift_variant	11168				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	g.chr9:15465556_15465557delTC	AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.1554_1555delGA	9.37:g.15465564_15465565delTC	ENSP00000370109:p.Glu518fs					PSIP1_ENST00000380738.4_Frame_Shift_Del_p.ET518fs	p.ET518fs			O75475	PSIP1_HUMAN		GBM - Glioblastoma multiforme(50;2.38e-06)	16	1897_1898	-			518					D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Frame_Shift_Del	DEL	ENST00000380733.4	37	c.1554_1555delGA	CCDS6479.1																																																																																				0.366	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1	NM_033222		7	388						7	388	---	---	---	---
RP11-180I4.2	0	broad.mit.edu	37	9	98468147	98468148	+	lincRNA	INS	-	-	CAC	rs561681898|rs199576323|rs371929980|rs370440321|rs367832466		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr9:98468147_98468148insCAC	ENST00000580326.1	+	0	189																											acaatcaccatcaccaccacca	0.574																																						ENST00000580326.1																			0																																																			0							g.chr9:98468147_98468148insCAC																													9.37:g.98468154_98468156dupCAC														0	189	+									RNA	INS	ENST00000580326.1	37																																																																																						0.574	RP11-180I4.2-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000444750.1			5	8						5	8	---	---	---	---
NR4A3	8013	broad.mit.edu	37	9	102590616	102590618	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr9:102590616_102590618delCAC	ENST00000395097.2	+	3	1021_1023	c.292_294delCAC	c.(292-294)cacdel	p.H108del	NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del|NR4A3_ENST00000330847.1_In_Frame_Del_p.H119del	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	108	Poly-His.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				ccatcaccatcaccaccaccacc	0.616			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	ENST00000330847.1				Dom	yes		9	9q22	8013	T	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""			M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0											c.(325-327)del		nuclear receptor subfamily 4, group A, member 3																																				SO:0001651	inframe_deletion	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102590616_102590618delCAC	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.292_294delCAC	9.37:g.102590625_102590627delCAC	ENSP00000378531:p.His108del					NR4A3_ENST00000395097.2_In_Frame_Del_p.H108del|NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del	p.H119del			Q92570	NR4A3_HUMAN			2	369_371	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	108					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	In_Frame_Del	DEL	ENST00000395097.2	37	c.325_327delCAC	CCDS6743.1																																																																																				0.616	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			10	160						10	160	---	---	---	---
TUBBP5	643224	broad.mit.edu	37	9	141070119	141070120	+	RNA	INS	-	-	GG			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr9:141070119_141070120insGG	ENST00000503395.1	+	0	1199_1200									tubulin, beta pseudogene 5									p.S78S(1)									TCTGTGCGCTCGGGGCCCTTCG	0.678																																						ENST00000503395.1																			1	Substitution - coding silent(1)	p.S78S(1)	urinary_tract(1)																																																0							g.chr9:141070119_141070120insGG	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070122_141070123dupGG														0	1199_1200	+									RNA	INS	ENST00000503395.1	37																																																																																						0.678	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		8	401						8	401	---	---	---	---
RUFY2	55680	broad.mit.edu	37	10	70156583	70156583	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr10:70156583delT	ENST00000602465.1	-	4	452	c.352delA	c.(352-354)atgfs	p.M118fs	RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000388768.2_Frame_Shift_Del_p.M153fs|RUFY2_ENST00000342616.4_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000454950.2_Frame_Shift_Del_p.M60fs			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	167	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TAATCGGCCATTTTTTTTTGC	0.398																																						ENST00000388768.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						c.(457-459)tgfs		RUN and FYVE domain containing 2							81.0	80.0	81.0					10																	70156583		1832	4087	5919	SO:0001589	frameshift_variant	55680					nucleus	metal ion binding	g.chr10:70156583delT	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.352delA	10.37:g.70156583delT	ENSP00000473462:p.Met118fs					RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000602465.1_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000454950.2_Frame_Shift_Del_p.M60fs|RUFY2_ENST00000342616.4_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000472394.2_5'UTR	p.M153fs	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN			4	783	-			167			RUN.		B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Frame_Shift_Del	DEL	ENST00000602465.1	37	c.457delA																																																																																					0.398	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987		11	360						11	360	---	---	---	---
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr10:98336475delT	ENST00000371142.4	-	2	430	c.214delA	c.(214-216)agtfs	p.S72fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	72						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGACTGATACTTTTTTTTGAC	0.363																																						ENST00000371142.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15						c.(214-216)gtfs		transmembrane 9 superfamily member 3							146.0	145.0	145.0					10																	98336475		2203	4300	6503	SO:0001589	frameshift_variant	56889					integral to membrane	binding	g.chr10:98336475delT	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.214delA	10.37:g.98336475delT	ENSP00000360184:p.Ser72fs						p.S72fs	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)	2	430	-		Colorectal(252;0.158)	72					Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Frame_Shift_Del	DEL	ENST00000371142.4	37	c.214delA	CCDS7450.1																																																																																				0.363	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123		7	451						7	451	---	---	---	---
NLRP6	171389	broad.mit.edu	37	11	281553	281555	+	In_Frame_Del	DEL	GAG	GAG	-	rs377505007		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr11:281553_281555delGAG	ENST00000312165.5	+	4	1819_1821	c.1819_1821delGAG	c.(1819-1821)gagdel	p.E611del	NLRP6_ENST00000534750.1_In_Frame_Del_p.E611del	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGAAGAGCCAGAGGAGGAGGAGG	0.67																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1819-1821)del		NLR family, pyrin domain containing 6																																				SO:0001651	inframe_deletion	171389					cytoplasm	ATP binding	g.chr11:281553_281555delGAG	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1819_1821delGAG	11.37:g.281562_281564delGAG	ENSP00000309767:p.Glu611del					NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del	p.E611del	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	2024_2026	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	611			Poly-Glu.		A8K9F3|E9PJZ8	In_Frame_Del	DEL	ENST00000312165.5	37	c.1819_1821delGAG	CCDS7693.1																																																																																				0.670	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		13	614						13	614	---	---	---	---
TSPAN4	7106	broad.mit.edu	37	11	864443	864445	+	In_Frame_Del	DEL	CTG	CTG	-	rs61867552	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr11:864443_864445delCTG	ENST00000397404.1	+	5	521_523	c.262_264delCTG	c.(262-264)ctgdel	p.L92del	TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	92					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAGTTCTTCCTGCTGCTGCTGC	0.65																																						ENST00000397404.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3						c.(262-264)del		tetraspanin 4																																				SO:0001651	inframe_deletion	0				protein complex assembly	integral to plasma membrane		g.chr11:864443_864445delCTG	AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"""Tetraspanins"""	11859	protein-coding gene	gene with protein product		602644	"""transmembrane 4 superfamily member 7"""	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.262_264delCTG	11.37:g.864452_864454delCTG	ENSP00000380553:p.Leu92del					TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del	p.L92del	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	521_523	+		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	92					Q6IAP6	In_Frame_Del	DEL	ENST00000397404.1	37	c.262_264delCTG	CCDS7721.1																																																																																				0.650	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257102.2			12	569						12	569	---	---	---	---
PAK1	5058	broad.mit.edu	37	11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gatgct>gct	p.D183del	PAK1_ENST00000278568.4_In_Frame_Del_p.D183del|PAK1_ENST00000530617.1_In_Frame_Del_p.D183del|PAK1_ENST00000528203.1_In_Frame_Del_p.D85del|PAK1_ENST00000525542.1_5'UTR	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478																																						ENST00000356341.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29						c.(547-552)gct>g		p21 protein (Cdc42/Rac)-activated kinase 1			,	392,0,3872		189,0,14,0,0,1929					,	3.9	1.0		dbSNP_134	110	824,25,7405		391,0,42,0,25,3669	no	codingComplex,codingComplex	PAK1	NM_002576.4,NM_001128620.1	,	580,0,56,0,25,5598	A1A1,A1A2,A1R,A2A2,A2R,RR		10.2859,9.1932,9.9137	,	,		1216,25,11277				SO:0001651	inframe_deletion	5058				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	g.chr11:77069990_77069992delCAT	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"""STE20 homolog, yeast"""	602590	"""p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)"", ""p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"""			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.548_550delATG	11.37:g.77069999_77070001delCAT	ENSP00000348696:p.Asp183del					PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del	p.DA183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN			6	1079_1081	-	all_cancers(14;1.75e-18)		183			Interaction with CRIPAK.		O75561|Q13567|Q32M53|Q32M54|Q86W79	In_Frame_Del	DEL	ENST00000356341.3	37	c.548_550delATG	CCDS8250.1																																																																																				0.478	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		12	478						12	478	---	---	---	---
C11orf57	55216	broad.mit.edu	37	11	111953288	111953289	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr11:111953288_111953289insA	ENST00000280352.9	+	6	1107_1108	c.471_472insA	c.(472-474)aaafs	p.K158fs	TIMM8B_ENST00000507614.1_5'Flank|C11orf57_ENST00000532163.1_Frame_Shift_Ins_p.K130fs|C11orf57_ENST00000420986.2_Frame_Shift_Ins_p.K158fs|C11orf57_ENST00000393047.3_Frame_Shift_Ins_p.K159fs	NM_001082970.1|NM_018195.3	NP_001076439.1|NP_060665.3	Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	158	Lys-rich.									autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		AGAAATCCCACAAAAAAAAGCA	0.396																																						ENST00000532163.1																			0				autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12						c.(385-390)caaaaafs		chromosome 11 open reading frame 57																																				SO:0001589	frameshift_variant	55216							g.chr11:111953288_111953289insA	BX538107	CCDS8356.2, CCDS41715.1, CCDS73383.1	11q23.1	2006-03-09			ENSG00000150776	ENSG00000150776			25569	protein-coding gene	gene with protein product						12477932	Standard	NM_001082970		Approved	FLJ10726	uc001pmw.4	Q6ZUT1	OTTHUMG00000150213	ENST00000280352.9:c.479dupA	11.37:g.111953296_111953296dupA	ENSP00000339076:p.Lys158fs					C11orf57_ENST00000420986.2_Frame_Shift_Ins_p.QK157fs|C11orf57_ENST00000393047.3_Frame_Shift_Ins_p.QK158fs|C11orf57_ENST00000280352.9_Frame_Shift_Ins_p.QK157fs	p.QK129fs			Q6ZUT1	CK057_HUMAN		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)	6	1153_1154	+		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	157					Q5RL41|Q6IN53|Q7Z357|Q8N2T3	Frame_Shift_Ins	INS	ENST00000280352.9	37	c.387_388insA	CCDS41715.1																																																																																				0.396	C11orf57-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316852.1	NM_018195		7	264						7	264	---	---	---	---
IFT46	56912	broad.mit.edu	37	11	118427645	118427647	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr11:118427645_118427647delTCA	ENST00000264021.3	-	4	577_579	c.159_161delTGA	c.(157-162)gatgaa>gaa	p.D53del	IFT46_ENST00000530872.1_In_Frame_Del_p.D104del|IFT46_ENST00000264020.2_In_Frame_Del_p.D104del	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	53	Asp/Glu-rich (highly acidic).				cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TCCATGCTCTTCATCATCATCAT	0.473																																						ENST00000264020.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(310-315)gaa>ga		intraflagellar transport 46 homolog (Chlamydomonas)																																				SO:0001651	inframe_deletion	56912				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	g.chr11:118427645_118427647delTCA	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"""Intraflagellar transport homologs"""	26146	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 32"""		"""chromosome 11 open reading frame 60"", ""intraflagellar transport 46 homolog (Chlamydomonas)"""	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.159_161delTGA	11.37:g.118427654_118427656delTCA	ENSP00000264021:p.Asp53del					IFT46_ENST00000530872.1_In_Frame_Del_p.DE104del|IFT46_ENST00000264021.3_In_Frame_Del_p.DE53del	p.DE104del	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN			5	689_691	-			53					A8K0F6|Q9H6V5	In_Frame_Del	DEL	ENST00000264021.3	37	c.312_314delTGA	CCDS53718.1																																																																																				0.473	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	NM_020153		10	1027						10	1027	---	---	---	---
OR8D4	338662	broad.mit.edu	37	11	123777441	123777442	+	Frame_Shift_Ins	INS	-	-	T	rs79561639|rs74740497|rs201238608	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr11:123777441_123777442insT	ENST00000321355.2	+	1	333_334	c.303_304insT	c.(304-306)tttfs	p.F102fs		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGATTCAGCTGTTTTTTTTCTG	0.436													TTTTTTTT|TTTTTTTT|TTTTTTTTT|insertion	116	0.0231629	0.084	0.0058	5008	,	,		21496	0.0		0.001	False		,,,				2504	0.0					ENST00000321355.2																			0				large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(301-306)ctttttfs		olfactory receptor, family 8, subfamily D, member 4				222,0,4042		5,0,212,0,0,1915						-6.5	0.6		dbSNP_131	230	2,2,8250		0,0,2,0,2,4123	no	codingComplex	OR8D4	NM_001005197.1		5,0,214,0,2,6038	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0485,5.2064,1.8054				224,2,12292				SO:0001589	frameshift_variant	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777441_123777442insT	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.311dupT	11.37:g.123777449_123777449dupT	ENSP00000325381:p.Phe102fs						p.LF101fs	NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	333_334	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	101					Q6IFE9	Frame_Shift_Ins	INS	ENST00000321355.2	37	c.303_304insT	CCDS31698.1																																																																																				0.436	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		8	892						8	892	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6711546	6711546	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr12:6711546delT	ENST00000357008.2	-	3	381	c.218delA	c.(217-219)aagfs	p.K73fs	CHD4_ENST00000309577.6_Frame_Shift_Del_p.K73fs|CHD4_ENST00000544040.1_Frame_Shift_Del_p.K73fs|CHD4_ENST00000544484.1_Frame_Shift_Del_p.K70fs	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	73					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)			central_nervous_system(2)	2						ACTCACCTCCTTTTTTTGGCG	0.468																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(217-219)agfs		chromodomain helicase DNA binding protein 4							229.0	232.0	231.0					12																	6711546		2203	4300	6503	SO:0001589	frameshift_variant	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.chr12:6711546delT	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.218delA	12.37:g.6711546delT	ENSP00000349508:p.Lys73fs					CHD4_ENST00000544040.1_Frame_Shift_Del_p.K73fs|CHD4_ENST00000544484.1_Frame_Shift_Del_p.K70fs|CHD4_ENST00000357008.2_Frame_Shift_Del_p.K73fs	p.K73fs			Q14839	CHD4_HUMAN			3	381	-			73					Q8IXZ5	Frame_Shift_Del	DEL	ENST00000357008.2	37	c.218delA	CCDS8552.1																																																																																				0.468	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		7	1153						7	1153	---	---	---	---
OR6C75	390323	broad.mit.edu	37	12	55759192	55759192	+	Frame_Shift_Del	DEL	T	T	-	rs398102300|rs75456529	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr12:55759192delT	ENST00000343399.3	+	1	298	c.298delT	c.(298-300)tttfs	p.F102fs		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						GGCTCAGCTATTTTTTTTCAT	0.438													|||unknown(NO_COVERAGE)	81	0.0161741	0.0	0.0	5008	,	,		20060	0.0724		0.002	False		,,,				2504	0.0061					ENST00000343399.3																			0				endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						c.(298-300)ttfs		olfactory receptor, family 6, subfamily C, member 75				2,4262		0,2,2130	132.0	126.0	128.0			-5.1	0.0	12	dbSNP_131	128	4,8250		0,4,4123	no	frameshift	OR6C75	NM_001005497.1		0,6,6253	A1A1,A1R,RR		0.0485,0.0469,0.0479			55759192	6,12512	2203	4300	6503	SO:0001589	frameshift_variant	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55759192delT		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.298delT	12.37:g.55759192delT	ENSP00000368987:p.Phe102fs						p.F102fs	NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN			1	298	+			102						Frame_Shift_Del	DEL	ENST00000343399.3	37	c.298delT	CCDS31820.1																																																																																				0.438	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			14	909						14	909	---	---	---	---
ZFC3H1	196441	broad.mit.edu	37	12	72057256	72057258	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr12:72057256_72057258delGCT	ENST00000378743.3	-	1	491_493	c.133_135delAGC	c.(133-135)agcdel	p.S45del	THAP2_ENST00000547843.1_5'Flank|ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del|ZFC3H1_ENST00000549407.1_5'Flank	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	45	Ser-rich.				RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCCCGCCGCCGCTGCTGCTGCTG	0.631											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(133-135)del		zinc finger, C3H1-type containing				2,34,3866		0,0,2,4,26,1919						4.0	1.0			58	1,83,7932		0,0,1,9,65,3933	no	codingComplex	ZFC3H1	NM_144982.4		0,0,3,13,91,5852	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0479,0.9226,1.0069				3,117,11798				SO:0001651	inframe_deletion	196441				RNA processing	intracellular	metal ion binding	g.chr12:72057256_72057258delGCT	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.133_135delAGC	12.37:g.72057265_72057267delGCT	ENSP00000368017:p.Ser45del		OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1134	THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del|ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del	p.S45del	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			1	491_493	-			45			Ser-rich.		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	In_Frame_Del	DEL	ENST00000378743.3	37	c.133_135delAGC	CCDS41813.1																																																																																				0.631	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		7	507						7	507	---	---	---	---
TMTC3	160418	broad.mit.edu	37	12	88566417	88566417	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr12:88566417delT	ENST00000266712.6	+	8	1314	c.1094delT	c.(1093-1095)cttfs	p.L365fs		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	365					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						GCATCGAACCTTTTTTTTCCA	0.313																																						ENST00000266712.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						c.(1093-1095)ctfs		transmembrane and tetratricopeptide repeat containing 3				18,4246		6,6,2120	135.0	127.0	130.0			5.5	1.0	12		131	19,8235		6,7,4114	no	frameshift	TMTC3	NM_181783.3		12,13,6234	A1A1,A1R,RR		0.2302,0.4221,0.2956			88566417	37,12481	2203	4299	6502	SO:0001589	frameshift_variant	160418					integral to membrane	binding	g.chr12:88566417delT		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1094delT	12.37:g.88566417delT	ENSP00000266712:p.Leu365fs						p.L365fs	NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN			8	1314	+			365					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Frame_Shift_Del	DEL	ENST00000266712.6	37	c.1094delT	CCDS9032.1																																																																																				0.313	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		7	533						7	533	---	---	---	---
CCDC63	160762	broad.mit.edu	37	12	111311658	111311659	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr12:111311658_111311659insA	ENST00000308208.5	+	5	624_625	c.382_383insA	c.(382-384)gaafs	p.E128fs	CCDC63_ENST00000545036.1_Frame_Shift_Ins_p.E88fs|CCDC63_ENST00000552694.1_Frame_Shift_Ins_p.E49fs|CCDC63_ENST00000550317.1_3'UTR	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	128										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TCTTCAGATGGAAAAAAAAATC	0.416																																						ENST00000308208.5																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						c.(382-384)aaafs		coiled-coil domain containing 63																																				SO:0001589	frameshift_variant	160762							g.chr12:111311658_111311659insA	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.391dupA	12.37:g.111311667_111311667dupA	ENSP00000312399:p.Glu128fs					CCDC63_ENST00000552694.1_Frame_Shift_Ins_p.K49fs|CCDC63_ENST00000550317.1_3'UTR|CCDC63_ENST00000545036.1_Frame_Shift_Ins_p.K88fs	p.K128fs	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN			5	624_625	+			128					B4DY03|Q0P603|Q6P2E1	Frame_Shift_Ins	INS	ENST00000308208.5	37	c.382_383insA	CCDS9151.1																																																																																				0.416	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	NM_152591		9	367						9	367	---	---	---	---
PABPC3	5042	broad.mit.edu	37	13	25671273	25671273	+	Frame_Shift_Del	DEL	G	G	-	rs376589131		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr13:25671273delG	ENST00000281589.3	+	1	974	c.937delG	c.(937-939)gcgfs	p.A313fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	313	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCTCCGGAAAGCGTTTTCTCC	0.408																																						ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(937-939)cgfs		poly(A) binding protein, cytoplasmic 3							213.0	213.0	213.0					13																	25671273		2203	4300	6503	SO:0001589	frameshift_variant	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671273delG	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.937delG	13.37:g.25671273delG	ENSP00000281589:p.Ala313fs						p.A313fs	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	974	+		Lung SC(185;0.0225)|Breast(139;0.0602)	313			RRM 4.		Q8NHV0|Q9H086	Frame_Shift_Del	DEL	ENST00000281589.3	37	c.937delG	CCDS9311.1																																																																																				0.408	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		16	1479						16	1479	---	---	---	---
TSC22D1	8848	broad.mit.edu	37	13	45148706	45148708	+	In_Frame_Del	DEL	TGC	TGC	-	rs112613609		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr13:45148706_45148708delTGC	ENST00000458659.2	-	1	1993_1995	c.1503_1505delGCA	c.(1501-1506)cagcaa>caa	p.501_502QQ>Q	TSC22D1_ENST00000501704.2_In_Frame_Del_p.501_502QQ>Q|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	501	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)		ttgttgttgttgctgctgctgct	0.507																																						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.(1501-1506)caa>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.chr13:45148706_45148708delTGC	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.1503_1505delGCA	13.37:g.45148715_45148717delTGC	ENSP00000397435:p.Gln509del					TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ507del	p.QQ507del	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	1993_1995	-		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)	507			Gln-rich.		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	In_Frame_Del	DEL	ENST00000458659.2	37	c.1503_1505delGCA	CCDS31966.1																																																																																				0.507	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		16	441						16	441	---	---	---	---
UCHL3	7347	broad.mit.edu	37	13	76123902	76123916	+	5'Flank	DEL	GGCGGCGGCGGCGAA	GGCGGCGGCGGCGAA	-	rs149695719|rs8192737		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr13:76123902_76123916delGGCGGCGGCGGCGAA	ENST00000377595.3	+	0	0				COMMD6_ENST00000460675.1_5'Flank|RP11-29G8.3_ENST00000563635.1_RNA	NM_001270952.1|NM_006002.4	NP_001257881.1|NP_005993.1	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)						protein catabolic process (GO:0030163)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		GggcggaagcggcggcggcggcgaaggcggcggcT	0.716											OREG0022446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000563635.1																			0																	1023,1059		430,163,448						2.7	1.0		dbSNP_130	3	614,4334		166,282,2026	no	near-gene-5				596,445,2474	A1A1,A1R,RR		12.4091,49.1354,23.2859				1637,5393				SO:0001631	upstream_gene_variant	0							g.chr13:76123902_76123916delGGCGGCGGCGGCGAA	M30496	CCDS9453.1, CCDS73586.1	13q21.33	2008-02-05			ENSG00000118939	ENSG00000118939	3.2.1.15		12515	protein-coding gene	gene with protein product		603090				2530630	Standard	NM_001270952		Approved		uc001vjq.4	P15374	OTTHUMG00000017090		13.37:g.76123902_76123916delGGCGGCGGCGGCGAA	Exception_encountered		OREG0022446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1165									0	0_8	+								B2R970|Q5TBK8|Q6IBE9	RNA	DEL	ENST00000377595.3	37		CCDS9453.1																																																																																				0.716	UCHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045292.2	NM_006002		23	44						23	44	---	---	---	---
ZIC2	7546	broad.mit.edu	37	13	100635008	100635010	+	In_Frame_Del	DEL	CCA	CCA	-	rs375069774		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr13:100635008_100635010delCCA	ENST00000376335.3	+	1	983_985	c.690_692delCCA	c.(688-693)gcccac>gcc	p.H239del		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	239	Necessary for interaction with MDFIC and transcriptional activation or repression. {ECO:0000250}.|Poly-His.		H -> HH. {ECO:0000269|PubMed:15221788}.|Missing. {ECO:0000269|PubMed:15221788}.		brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCCGCGGCccaccaccaccac	0.621																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3																			0				large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(688-693)gcc>gc		Zic family member 2																																				SO:0001651	inframe_deletion	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100635008_100635010delCCA	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.690_692delCCA	13.37:g.100635017_100635019delCCA	ENSP00000365514:p.His239del						p.AH230del	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN			1	983_985	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		230			Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).|Poly-Ala.		Q5VYA9|Q9H309	In_Frame_Del	DEL	ENST00000376335.3	37	c.690_692delCCA	CCDS9495.1																																																																																				0.621	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		16	256						16	256	---	---	---	---
RALGAPA1	253959	broad.mit.edu	37	14	36194270	36194270	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr14:36194270delT	ENST00000389698.3	-	14	2216	c.1826delA	c.(1825-1827)aatfs	p.N609fs	RALGAPA1_ENST00000258840.6_Frame_Shift_Del_p.N609fs|RALGAPA1_ENST00000382366.3_Frame_Shift_Del_p.N609fs|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000307138.6_Frame_Shift_Del_p.N609fs	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	609					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAAGGTCATATTTTTTTTCCC	0.378																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1825-1827)atfs		Ral GTPase activating protein, alpha subunit 1 (catalytic)							56.0	58.0	58.0					14																	36194270		2203	4300	6503	SO:0001589	frameshift_variant	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36194270delT	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.1826delA	14.37:g.36194270delT	ENSP00000374348:p.Asn609fs					RALGAPA1_ENST00000389698.3_Frame_Shift_Del_p.N609fs|RALGAPA1_ENST00000382366.3_Frame_Shift_Del_p.N609fs|RALGAPA1_ENST00000307138.6_Frame_Shift_Del_p.N609fs|RALGAPA1_ENST00000554704.1_5'UTR	p.N609fs			Q6GYQ0	RGPA1_HUMAN			14	2216	-			609					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Frame_Shift_Del	DEL	ENST00000389698.3	37	c.1826delA	CCDS32065.1																																																																																				0.378	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		8	551						8	551	---	---	---	---
ELMSAN1	91748	broad.mit.edu	37	14	74205926	74205928	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr14:74205926_74205928delCTG	ENST00000286523.5	-	2	1566_1568	c.784_786delCAG	c.(784-786)cagdel	p.Q262del	ELMSAN1_ENST00000486739.1_5'Flank|ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	262	Gln-rich.|Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GTAGGgctgcctgctgctgctgc	0.65																																						ENST00000286523.5																			0											c.(784-786)del		ELM2 and Myb/SANT-like domain containing 1																																				SO:0001651	inframe_deletion	91748							g.chr14:74205926_74205928delCTG	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.784_786delCAG	14.37:g.74205935_74205937delCTG	ENSP00000286523:p.Gln262del					ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del	p.Q262del	NM_194278.3	NP_919254.2					2	1566_1568	-								Q6PK13|Q6PK59|Q6ZS23	In_Frame_Del	DEL	ENST00000286523.5	37	c.784_786delCAG	CCDS9819.1																																																																																				0.650	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		11	134						11	134	---	---	---	---
BTBD7	55727	broad.mit.edu	37	14	93712186	93712188	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr14:93712186_93712188delTGC	ENST00000334746.5	-	10	2873_2875	c.2566_2568delGCA	c.(2566-2568)gcadel	p.A856del	BTBD7_ENST00000554565.1_In_Frame_Del_p.A505del|BTBD7_ENST00000393170.2_In_Frame_Del_p.A430del	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	856	Poly-Ala.				multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GCTTCTCAGAtgctgctgctgct	0.537																																						ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(2566-2568)del		BTB (POZ) domain containing 7																																				SO:0001651	inframe_deletion	55727							g.chr14:93712186_93712188delTGC	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.2566_2568delGCA	14.37:g.93712195_93712197delTGC	ENSP00000335615:p.Ala856del					BTBD7_ENST00000554565.1_In_Frame_Del_p.A505del|BTBD7_ENST00000393170.2_In_Frame_Del_p.A430del	p.A856del	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	10	2873_2875	-		all_cancers(154;0.08)	856			Poly-Ala.		A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	In_Frame_Del	DEL	ENST00000334746.5	37	c.2566_2568delGCA	CCDS32146.1																																																																																				0.537	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		8	367						8	367	---	---	---	---
BTBD7	55727	broad.mit.edu	37	14	93761193	93761193	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr14:93761193delT	ENST00000334746.5	-	3	480	c.173delA	c.(172-174)aagfs	p.K58fs	BTBD7_ENST00000555525.1_Frame_Shift_Del_p.K58fs|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000393170.2_5'Flank|BTBD7_ENST00000298896.3_Frame_Shift_Del_p.K58fs	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	58					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)		p.K58fs*44(2)|p.R59fs*14(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AGAGGTTCTCTTTTTTTTGTC	0.438																																						ENST00000334746.5																			4	Deletion - Frameshift(2)|Insertion - Frameshift(2)	p.K58fs*44(2)|p.R59fs*14(2)	large_intestine(4)	breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(172-174)agfs		BTB (POZ) domain containing 7							102.0	109.0	107.0					14																	93761193		2203	4300	6503	SO:0001589	frameshift_variant	55727							g.chr14:93761193delT	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.173delA	14.37:g.93761193delT	ENSP00000335615:p.Lys58fs					BTBD7_ENST00000298896.3_Frame_Shift_Del_p.K58fs|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000555525.1_Frame_Shift_Del_p.K58fs	p.K58fs	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	3	480	-		all_cancers(154;0.08)	58					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Frame_Shift_Del	DEL	ENST00000334746.5	37	c.173delA	CCDS32146.1																																																																																				0.438	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		9	874						9	874	---	---	---	---
IGHV3-48	28424	broad.mit.edu	37	14	106993939	106993941	+	RNA	DEL	TAC	TAC	-	rs199815306|rs144292224	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr14:106993939_106993941delTAC	ENST00000390624.2	-	0	302_304									immunoglobulin heavy variable 3-48																		TAGTATATGGTACTACTACTACT	0.502																																						ENST00000390624.2																			0																	307,3283		14,279,1502						-5.2	0.0		dbSNP_134	157	272,7558		29,214,3672	no	intergenic				43,493,5174	A1A1,A1R,RR		3.4738,8.5515,5.0701				579,10841						0							g.chr14:106993939_106993941delTAC	M99675		14q32.33	2012-02-08			ENSG00000211964	ENSG00000211964		"""Immunoglobulins / IGH locus"""	5606	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151959		14.37:g.106993948_106993950delTAC														0	302_304	-									RNA	DEL	ENST00000390624.2	37																																																																																						0.502	IGHV3-48-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324605.1	NG_001019		9	1098						9	1098	---	---	---	---
IGHV4-61	28391	broad.mit.edu	37	14	107095573	107095573	+	RNA	DEL	G	G	-	rs552690124	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr14:107095573delG	ENST00000390630.2	-	0	89				RNA5SP389_ENST00000362610.1_RNA					immunoglobulin heavy variable 4-61																		TTCTTGCACAGGAGGTCCAGG	0.507													|||unknown(NO_COVERAGE)	16	0.00319489	0.0	0.0	5008	,	,		10932	0.0		0.003	False		,,,				2504	0.0133					ENST00000390630.2																			0																	59,3195		2,55,1570	21.0	39.0	33.0			0.1	0.0	14		34	93,7345		6,81,3632	no	intergenic				8,136,5202	A1A1,A1R,RR		1.2503,1.8132,1.4216			107095573	152,10540	1711	3937	5648			0							g.chr14:107095573delG	M29811		14q32.33	2012-02-08			ENSG00000211970	ENSG00000211970		"""Immunoglobulins / IGH locus"""	5655	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151976		14.37:g.107095573delG														0	89	-									RNA	DEL	ENST00000390630.2	37																																																																																						0.507	IGHV4-61-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324623.1	NG_001019		7	154						7	154	---	---	---	---
FAM63B	54629	broad.mit.edu	37	15	59144132	59144134	+	In_Frame_Del	DEL	GCT	GCT	-	rs369163190		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr15:59144132_59144134delGCT	ENST00000559228.1	+	8	1787_1789	c.1705_1707delGCT	c.(1705-1707)gctdel	p.A574del	FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	574	Gln-rich.									central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						ACAAGCAGCAGCTGCTGCTGCTG	0.468																																						ENST00000559228.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1705-1707)del		family with sequence similarity 63, member B																																				SO:0001651	inframe_deletion	54629							g.chr15:59144132_59144134delGCT	AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.1705_1707delGCT	15.37:g.59144141_59144143delGCT	ENSP00000452885:p.Ala574del					FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del	p.A574del			Q8NBR6	FA63B_HUMAN			8	1787_1789	+			574			Gln-rich.		B2RTT8|Q9ULQ6	In_Frame_Del	DEL	ENST00000559228.1	37	c.1705_1707delGCT	CCDS42046.1																																																																																				0.468	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		8	414						8	414	---	---	---	---
RP11-67H24.2	0	broad.mit.edu	37	16	32823636	32823637	+	lincRNA	INS	-	-	C	rs112857933		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr16:32823636_32823637insC	ENST00000569859.1	+	0	373																											TTGCTGGAGTGGATGTGACAGG	0.495																																						ENST00000569859.1																			0																																																			0							g.chr16:32823636_32823637insC																													16.37:g.32823636_32823637insC														0	373	+									RNA	INS	ENST00000569859.1	37																																																																																						0.495	RP11-67H24.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000432377.1			12	179						12	179	---	---	---	---
DRC7	84229	broad.mit.edu	37	16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-	rs143282103		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr16:57731885_57731887delGGA	ENST00000360716.3	+	3	245_247	c.24_26delGGA	c.(22-27)gtggag>gtg	p.E13del	CCDC135_ENST00000394337.4_In_Frame_Del_p.E13del|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_In_Frame_Del_p.E13del			Q8IY82	CC135_HUMAN		13					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(22-27)gtg>gt		coiled-coil domain containing 135				27,4237		4,19,2109						4.4	1.0		dbSNP_134	66	47,8207		1,45,4081	no	coding	CCDC135	NM_032269.5		5,64,6190	A1A1,A1R,RR		0.5694,0.6332,0.5911				74,12444				SO:0001651	inframe_deletion	84229					cytoplasm		g.chr16:57731885_57731887delGGA																												ENST00000360716.3:c.24_26delGGA	16.37:g.57731894_57731896delGGA	ENSP00000353942:p.Glu13del					RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del|CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del	p.VE8del			Q8IY82	CC135_HUMAN			3	245_247	+			8					A8K943|Q8NAA0|Q9H080	In_Frame_Del	DEL	ENST00000360716.3	37	c.24_26delGGA	CCDS10787.1																																																																																				0.591	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			12	382						12	382	---	---	---	---
EDC4	23644	broad.mit.edu	37	16	67913767	67913769	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr16:67913767_67913769delCAG	ENST00000358933.5	+	16	2075_2077	c.1836_1838delCAG	c.(1834-1839)cccagc>ccc	p.S617del	AC040162.1_ENST00000408599.1_RNA|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	617	Ser-rich.				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)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCTCTCCcagcagcagcagc	0.611																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1834-1839)ccc>cc		enhancer of mRNA decapping 4																																				SO:0001651	inframe_deletion	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913767_67913769delCAG	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1836_1838delCAG	16.37:g.67913776_67913778delCAG	ENSP00000351811:p.Ser617del						p.PS612del	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2075_2077	+		Ovarian(137;0.0563)	612			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	In_Frame_Del	DEL	ENST00000358933.5	37	c.1836_1838delCAG	CCDS10849.1																																																																																				0.611	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		8	290						8	290	---	---	---	---
ANKRD11	29123	broad.mit.edu	37	16	89349640	89349641	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr16:89349640_89349641insT	ENST00000301030.4	-	9	3769_3770	c.3309_3310insA	c.(3307-3312)aaagatfs	p.D1104fs	ANKRD11_ENST00000378330.2_Frame_Shift_Ins_p.D1104fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1104	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCTTGTCATCTTTTTTTTCAG	0.465																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(3307-3312)aaatgafs		ankyrin repeat domain 11																																				SO:0001589	frameshift_variant	29123					nucleus		g.chr16:89349640_89349641insT	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.3310dupA	16.37:g.89349648_89349648dupT	ENSP00000301030:p.Asp1104fs					ANKRD11_ENST00000378330.2_Frame_Shift_Ins_p.*1104fs	p.*1104fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	3769_3770	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1104			Lys-rich.		Q6NTG1|Q6QMF8	Frame_Shift_Ins	INS	ENST00000301030.4	37	c.3309_3310insA	CCDS32513.1																																																																																				0.465	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		12	833						12	833	---	---	---	---
SPG7	6687	broad.mit.edu	37	16	89613072	89613073	+	Frame_Shift_Ins	INS	-	-	G	rs111475461	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr16:89613072_89613073insG	ENST00000268704.2	+	11	1471_1472	c.1456_1457insG	c.(1456-1458)cggfs	p.R486fs		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	486			R -> Q (in dbSNP:rs111475461).		anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GCAGGAGAGGCGGGAGATTTTT	0.594																																						ENST00000268704.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20						c.(1456-1458)ggafs		spastic paraplegia 7 (pure and complicated autosomal recessive)																																				SO:0001589	frameshift_variant	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89613072_89613073insG	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1459dupG	16.37:g.89613075_89613075dupG	ENSP00000268704:p.Arg486fs						p.G486fs	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	11	1471_1472	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	486		R -> Q.			O75756|Q2TB70|Q58F00|Q96IB0	Frame_Shift_Ins	INS	ENST00000268704.2	37	c.1456_1457insG	CCDS10977.1																																																																																				0.594	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		7	705						7	705	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27027202	27027204	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr17:27027202_27027204delAGC	ENST00000314616.6	+	34	4856_4858	c.4573_4575delAGC	c.(4573-4575)agcdel	p.S1528del	SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1528	Poly-Ser.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CATCACCCCTAGCAGCAGCAGCA	0.537																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4573-4575)del		suppressor of Ty 6 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27027202_27027204delAGC	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4573_4575delAGC	17.37:g.27027211_27027213delAGC	ENSP00000319104:p.Ser1528del					SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del	p.S1528del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			34	4856_4858	+	Lung NSC(42;0.00431)		1528			Poly-Ser.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	In_Frame_Del	DEL	ENST00000314616.6	37	c.4573_4575delAGC	CCDS32596.1																																																																																				0.537	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		7	1108						7	1108	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27957908	27957908	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr17:27957908delT	ENST00000269033.3	-	15	4374	c.4223delA	c.(4222-4224)aagfs	p.K1408fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Del_p.K1435fs	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1408					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCATTTGCCTTTTTCAGTCT	0.507																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(4222-4224)agfs		slingshot protein phosphatase 2							217.0	198.0	204.0					17																	27957908		2203	4300	6503	SO:0001589	frameshift_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27957908delT	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.4223delA	17.37:g.27957908delT	ENSP00000269033:p.Lys1408fs					RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Del_p.K1435fs	p.K1408fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			15	4374	-			1408					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Frame_Shift_Del	DEL	ENST00000269033.3	37	c.4223delA	CCDS11253.1																																																																																				0.507	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		7	1108						7	1108	---	---	---	---
SERPINB10	5273	broad.mit.edu	37	18	61584739	61584739	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr18:61584739delA	ENST00000238508.3	+	3	277	c.218delA	c.(217-219)gaafs	p.E73fs		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	73					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R76fs*7(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				CCTGAAAGTGAAAAAAAAAGG	0.284																																						ENST00000238508.3																			1	Deletion - Frameshift(1)	p.R76fs*7(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24						c.(217-219)gafs		serpin peptidase inhibitor, clade B (ovalbumin), member 10				39,129,4010		1,0,37,2,125,1924	26.0	26.0	26.0			5.3	1.0	18		27	67,232,7845		0,0,67,0,232,3773	no	codingComplex	SERPINB10	NM_005024.1		1,0,104,2,357,5697	A1A1,A1A2,A1R,A2A2,A2R,RR		3.6714,4.0211,3.79			61584739	106,361,11855	2173	4255	6428	SO:0001589	frameshift_variant	5273							g.chr18:61584739delA	U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.218delA	18.37:g.61584739delA	ENSP00000238508:p.Glu73fs						p.E73fs	NM_005024.1	NP_005015.1					3	277	+		Esophageal squamous(42;0.131)						Q4VAX4|Q4VAX7	Frame_Shift_Del	DEL	ENST00000238508.3	37	c.218delA	CCDS11990.1																																																																																				0.284	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024		8	139						8	139	---	---	---	---
YIPF2	78992	broad.mit.edu	37	19	11038362	11038364	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:11038362_11038364delGCT	ENST00000586748.1	-	4	393_395	c.221_223delAGC	c.(220-225)cagccg>ccg	p.Q74del	YIPF2_ENST00000253031.2_In_Frame_Del_p.Q74del|C19orf52_ENST00000270502.6_5'Flank|YIPF2_ENST00000590329.1_In_Frame_Del_p.Q74del			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	74						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CAGAATCCCGgctgctgctgctg	0.621																																						ENST00000586748.1																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						c.(220-225)ccg>c		Yip1 domain family, member 2																																				SO:0001651	inframe_deletion	78992					integral to membrane|transport vesicle		g.chr19:11038362_11038364delGCT	BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"""Yip1 domain family"""	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.221_223delAGC	19.37:g.11038371_11038373delGCT	ENSP00000466055:p.Gln74del					YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del|YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del	p.QP74del			Q9BWQ6	YIPF2_HUMAN			4	393_395	-			74						In_Frame_Del	DEL	ENST00000586748.1	37	c.221_223delAGC	CCDS12251.1																																																																																				0.621	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453045.1	NM_024029		8	244						8	244	---	---	---	---
HAMP	57817	broad.mit.edu	37	19	35773520	35773522	+	In_Frame_Del	DEL	CTC	CTC	-	rs373178250		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:35773520_35773522delCTC	ENST00000598398.1	+	2	336_338	c.40_42delCTC	c.(40-42)ctcdel	p.L18del	HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide	18					cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|immune response (GO:0006955)|killing of cells of other organism (GO:0031640)	apical cortex (GO:0045179)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGCCTCCTGCTCCTCCTCCTCC	0.64																																						ENST00000598398.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4						c.(40-42)del		hepcidin antimicrobial peptide																																				SO:0001651	inframe_deletion	57817				defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity	g.chr19:35773520_35773522delCTC	AF309489	CCDS12454.1	19q13.1	2014-09-17				ENSG00000105697			15598	protein-coding gene	gene with protein product		606464				11034317, 11113132	Standard	NM_021175		Approved	LEAP-1, HEPC, HFE2B, LEAP1	uc002nyw.3	P81172		ENST00000598398.1:c.40_42delCTC	19.37:g.35773529_35773531delCTC	ENSP00000471894:p.Leu18del					HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		2	336_338	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		18					Q1HE14|Q9BY68	In_Frame_Del	DEL	ENST00000598398.1	37	c.40_42delCTC	CCDS12454.1																																																																																				0.640	HAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466067.1	NM_021175		9	759						9	759	---	---	---	---
PROSER3	148137	broad.mit.edu	37	19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-	rs370252048		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atctcc>atc	p.S218del	C19orf55_ENST00000396908.4_In_Frame_Del_p.S218del			Q2NL68	PRSR3_HUMAN		218	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGCCTCCATCTCCTCCTCCTCC	0.631																																						ENST00000544099.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(637-642)atc>at		chromosome 19 open reading frame 55				30,4128		11,8,2060						2.0	0.3			153	66,8064		29,8,4028	no	coding	C19orf55	NM_001039887.2		40,16,6088	A1A1,A1R,RR		0.8118,0.7215,0.7812				96,12192				SO:0001651	inframe_deletion	148137							g.chr19:36255947_36255949delCTC																												ENST00000544099.1:c.639_641delCTC	19.37:g.36255956_36255958delCTC	ENSP00000467267:p.Ser218del					C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del	p.IS213del			Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	702_704	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		213			Ser-rich.		Q8NDI3|Q8WWC8|Q96NL4	In_Frame_Del	DEL	ENST00000544099.1	37	c.639_641delCTC																																																																																					0.631	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			8	1145						8	1145	---	---	---	---
ZNF337	26152	broad.mit.edu	37	20	25657231	25657232	+	Frame_Shift_Del	DEL	TG	TG	-	rs200386201		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr20:25657231_25657232delTG	ENST00000376436.1	-	4	1231_1232	c.692_693delCA	c.(691-693)acafs	p.T231fs	ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000481610.1_5'Flank|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTTCTCTCCTGTGTGTGTGTT	0.51																																						ENST00000376436.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(691-693)afs		zinc finger protein 337																																				SO:0001589	frameshift_variant	26152							g.chr20:25657231_25657232delTG		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.692_693delCA	20.37:g.25657239_25657240delTG	ENSP00000365619:p.Thr231fs					ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs	p.T231fs							4	1231_1232	-								B4DSM2|Q9Y3Y5	Frame_Shift_Del	DEL	ENST00000376436.1	37	c.692_693delCA	CCDS13174.1																																																																																				0.510	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			9	437						9	437	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29625899	29625900	+	Frame_Shift_Ins	INS	-	-	AT	rs201509828		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr20:29625899_29625900insAT	ENST00000278882.3	+	5	523_524	c.143_144insAT	c.(142-147)aaatatfs	p.KY48fs	FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.KY48fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.KY53fs			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	48										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTATGGAAAATATCTTGGTA	0.342																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(142-144)atafs																																						SO:0001589	frameshift_variant	0							g.chr20:29625899_29625900insAT			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.146_147dupAT	20.37:g.29625902_29625903dupAT	ENSP00000278882:p.Lys48fs					FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I53fs|FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.I48fs	p.I48fs							5	523_524	+								C4AME5	Frame_Shift_Ins	INS	ENST00000278882.3	37	c.143_144insAT																																																																																					0.342	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		14	592						14	592	---	---	---	---
NCOA6	23054	broad.mit.edu	37	20	33330968	33330970	+	In_Frame_Del	DEL	TGC	TGC	-	rs140426729	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr20:33330968_33330970delTGC	ENST00000374796.2	-	12	5660_5662	c.3090_3092delGCA	c.(3088-3093)cagcaa>caa	p.1030_1031QQ>Q	NCOA6_ENST00000359003.2_In_Frame_Del_p.1030_1031QQ>Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1030	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CATCATTtgttgctgctgctgct	0.576																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(3088-3093)caa>ca		nuclear receptor coactivator 6																																				SO:0001651	inframe_deletion	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33330968_33330970delTGC	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.3090_3092delGCA	20.37:g.33330977_33330979delTGC	ENSP00000363929:p.Gln1032del					NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ1030del	p.QQ1030del			Q14686	NCOA6_HUMAN			12	5660_5662	-			1030			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	In_Frame_Del	DEL	ENST00000374796.2	37	c.3090_3092delGCA	CCDS13241.1																																																																																				0.576	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		7	401						7	401	---	---	---	---
SYCP2	10388	broad.mit.edu	37	20	58452518	58452519	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr20:58452518_58452519insT	ENST00000357552.3	-	33	3296_3297	c.3071_3072insA	c.(3070-3072)aacfs	p.N1024fs	SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.N1024fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1024					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GATCTTTATAGTTTTTTTTTGT	0.327																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(3070-3072)atafs		synaptonemal complex protein 2				10,4248		0,10,2119						5.8	1.0			60	10,8234		0,10,4112	no	frameshift	SYCP2	NM_014258.2		0,20,6231	A1A1,A1R,RR		0.1213,0.2349,0.16				20,12482				SO:0001589	frameshift_variant	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58452518_58452519insT	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3072dupA	20.37:g.58452527_58452527dupT	ENSP00000350162:p.Asn1024fs					SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.I1024fs	p.I1024fs			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		33	3296_3297	-	all_lung(29;0.00344)		1024					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Frame_Shift_Ins	INS	ENST00000357552.3	37	c.3071_3072insA	CCDS13482.1																																																																																				0.327	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		10	339						10	339	---	---	---	---
RBBP8NL	140893	broad.mit.edu	37	20	60990678	60990678	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr20:60990678delT	ENST00000252998.1	-	8	739	c.583delA	c.(583-585)atcfs	p.I195fs		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	195						extracellular space (GO:0005615)											CCTGGGGAGATTTTGGCCACT	0.677																																						ENST00000252998.1																			0											c.(583-585)tcfs		RBBP8 N-terminal like							60.0	68.0	65.0					20																	60990678		2203	4299	6502	SO:0001589	frameshift_variant	140893							g.chr20:60990678delT	AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"""hypothetical protein LOC140893"""		"""chromosome 20 open reading frame 151"""	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.583delA	20.37:g.60990678delT	ENSP00000252998:p.Ile195fs						p.I195fs	NM_080833.2	NP_543023.2					8	739	-								B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Frame_Shift_Del	DEL	ENST00000252998.1	37	c.583delA	CCDS13498.1																																																																																				0.677	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080029.1	NM_080833		9	533						9	533	---	---	---	---
YTHDF1	54915	broad.mit.edu	37	20	61833650	61833652	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr20:61833650_61833652delCCT	ENST00000370339.3	-	4	1981_1983	c.1640_1642delAGG	c.(1639-1644)gaggtg>gtg	p.E547del	YTHDF1_ENST00000370333.4_In_Frame_Del_p.E497del|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	547							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTGCGCACCACCTCCTCCTCCTC	0.557																																						ENST00000370339.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						c.(1639-1644)gtg>g		YTH domain family, member 1																																				SO:0001651	inframe_deletion	54915							g.chr20:61833650_61833652delCCT	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1640_1642delAGG	20.37:g.61833659_61833661delCCT	ENSP00000359364:p.Glu547del					YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del|YTHDF1_ENST00000370334.4_Intron	p.EV547del	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN			4	1981_1983	-			547					Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	In_Frame_Del	DEL	ENST00000370339.3	37	c.1640_1642delAGG	CCDS13511.1																																																																																				0.557	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		7	726						7	726	---	---	---	---
ZNRF3	84133	broad.mit.edu	37	22	29445819	29445821	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr22:29445819_29445821delCAG	ENST00000544604.2	+	8	1825_1827	c.1650_1652delCAG	c.(1648-1653)gacagc>gac	p.S557del	ZNRF3_ENST00000402174.1_In_Frame_Del_p.S457del|ZNRF3_ENST00000332811.4_In_Frame_Del_p.S457del|ZNRF3_ENST00000406323.3_In_Frame_Del_p.S457del	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	557					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						CAGgcagcgacagcagcagcagc	0.66																																						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.(1648-1653)gac>ga		zinc and ring finger 3			,	78,3554		2,74,1740					,	5.4	1.0			16	199,7043		14,171,3436	no	coding,coding	ZNRF3	NM_032173.3,NM_001206998.1	,	16,245,5176	A1A1,A1R,RR		2.7479,2.1476,2.5474	,	,		277,10597				SO:0001651	inframe_deletion	84133					integral to membrane	zinc ion binding	g.chr22:29445819_29445821delCAG	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.1650_1652delCAG	22.37:g.29445828_29445830delCAG	ENSP00000443824:p.Ser557del					ZNRF3_ENST00000402174.1_In_Frame_Del_p.DS450del|ZNRF3_ENST00000332811.4_In_Frame_Del_p.DS450del|ZNRF3_ENST00000406323.3_In_Frame_Del_p.DS450del	p.DS550del	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN			8	1825_1827	+			550					B3KU18|Q6ICH1|Q6NTF8|Q8WU18	In_Frame_Del	DEL	ENST00000544604.2	37	c.1650_1652delCAG	CCDS56225.1																																																																																				0.660	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		7	177						7	177	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610776	42610778	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr22:42610776_42610778delTGC	ENST00000359486.3	-	1	670_672	c.534_536delGCA	c.(532-537)cagcaa>caa	p.178_179QQ>Q	TCF20_ENST00000335626.4_In_Frame_Del_p.178_179QQ>Q	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	178	Poly-Gln.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGCTGGACTTGCTGCTGCTGCT	0.571																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(532-537)caa>ca		transcription factor 20 (AR1)																																				SO:0001651	inframe_deletion	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610776_42610778delTGC	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.534_536delGCA	22.37:g.42610785_42610787delTGC	ENSP00000352463:p.Gln179del					TCF20_ENST00000335626.4_In_Frame_Del_p.QQ178del	p.QQ178del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	670_672	-			178			Poly-Gln.		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	In_Frame_Del	DEL	ENST00000359486.3	37	c.534_536delGCA	CCDS14033.1																																																																																				0.571	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		8	325						8	325	---	---	---	---
PHF8	23133	broad.mit.edu	37	X	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chrX:54011405_54011407delCTC	ENST00000357988.5	-	18	2849_2851	c.2491_2493delGAG	c.(2491-2493)gagdel	p.E831del	PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000338154.6_In_Frame_Del_p.E795del	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GACTGGCGTTCTCCTCCTCCTCC	0.591																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(2383-2385)del		PHD finger protein 8																																				SO:0001651	inframe_deletion	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54011405_54011407delCTC	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2491_2493delGAG	X.37:g.54011414_54011416delCTC	ENSP00000350676:p.Glu831del					PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del	p.E795del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN			18	2887_2889	-			831			Ser-rich.		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	In_Frame_Del	DEL	ENST00000357988.5	37	c.2383_2385delGAG	CCDS55420.1																																																																																				0.591	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		10	270						10	270	---	---	---	---
IRS4	8471	broad.mit.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(1771-1773)gaafs		insulin receptor substrate 4				32,3681		0,19,13,1569,524						4.0	0.4			181	25,6453		0,7,18,2347,1752	no	frameshift	IRS4	NM_003604.2		0,26,31,3916,2276	A1A1,A1R,A1,RR,R		0.3859,0.8618,0.5593				57,10134				SO:0001589	frameshift_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977802_107977803insC	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1773dupG	X.37:g.107977810_107977810dupC	ENSP00000361202:p.Gly591fs						p.E591fs	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	1848_1849	-			591						Frame_Shift_Ins	INS	ENST00000372129.2	37	c.1772_1773insG	CCDS14544.1																																																																																				0.545	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		7	813						7	813	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140996449	140996449	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chrX:140996449delT	ENST00000285879.4	+	4	3545	c.3259delT	c.(3259-3261)tttfs	p.F1087fs	MAGEC1_ENST00000406005.2_Frame_Shift_Del_p.F154fs	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1087	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGTAGTAGAGTTTTTGGCCAT	0.468										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(3259-3261)ttfs		melanoma antigen family C, 1							150.0	139.0	143.0					X																	140996449		2203	4300	6503	SO:0001589	frameshift_variant	9947						protein binding	g.chrX:140996449delT	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.3259delT	X.37:g.140996449delT	ENSP00000285879:p.Phe1087fs	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Frame_Shift_Del_p.F154fs	p.F1087fs	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	3545	+	Acute lymphoblastic leukemia(192;6.56e-05)		1087			MAGE.		A0PK03|O75451|Q8TCV4	Frame_Shift_Del	DEL	ENST00000285879.4	37	c.3259delT	CCDS35417.1																																																																																				0.468	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		8	634						8	634	---	---	---	---
