#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
OR9G4	283189	broad.mit.edu	37	11	56511197	56511197	+	Missense_Mutation	SNP	C	C	T	rs367701319		TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr11:56511197C>T	ENST00000302957.3	-	1	90	c.91G>A	c.(91-93)Ggt>Agt	p.G31S		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G31S(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GCTGAGAAACCCAACAAGATG	0.428																																						ENST00000302957.3																			1	Substitution - Missense(1)	p.G31S(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(91-93)Ggt>Agt		olfactory receptor, family 9, subfamily G, member 4							84.0	77.0	79.0					11																	56511197		2201	4296	6497	SO:0001583	missense	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56511197C>T	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.91G>A	11.37:g.56511197C>T	ENSP00000307515:p.Gly31Ser						p.G31S	NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN			1	90	-			31					Q6IF62|Q96RA9	Missense_Mutation	SNP	ENST00000302957.3	37	c.91G>A	CCDS31537.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374988	0.82573	.	.	ENSG00000172457	ENST00000302957	T	0.00653	5.96	4.9	4.9	0.64082	.	0.000000	0.40385	N	0.001118	T	0.03178	0.0093	M	0.91612	3.225	0.46078	D	0.998859	P	0.52577	0.954	P	0.50352	0.638	T	0.15954	-1.0419	10	0.87932	D	0	-13.0418	16.802	0.85617	0.0:1.0:0.0:0.0	.	31	Q8NGQ1	OR9G4_HUMAN	S	31	ENSP00000307515:G31S	ENSP00000307515:G31S	G	-	1	0	OR9G4	56267773	0.985000	0.35326	0.984000	0.44739	0.716000	0.41182	3.940000	0.56599	2.546000	0.85860	0.549000	0.68633	GGT		0.428	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		4	107	0	0	0	0.150653	0	4	107				
PBX2	5089	broad.mit.edu	37	6	32157563	32157563	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr6:32157563C>A	ENST00000375050.4	-	1	400	c.130G>T	c.(130-132)Gtc>Ttc	p.V44F		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	44					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.V44F(2)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						CCTCCCGGGACCCCCCCGCTA	0.711																																						ENST00000375050.4																			2	Substitution - Missense(2)	p.V44F(2)	prostate(1)|lung(1)	endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						c.(130-132)Gtc>Ttc		pre-B-cell leukemia homeobox 2							29.0	31.0	30.0					6																	32157563		1509	2708	4217	SO:0001583	missense	5089						transcription factor binding	g.chr6:32157563C>A		CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"""Homeoboxes / TALE class"""	8633	protein-coding gene	gene with protein product		176311	"""pre-B-cell leukemia transcription factor 2"""			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.130G>T	6.37:g.32157563C>A	ENSP00000364190:p.Val44Phe						p.V44F	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN			1	400	-			44					A2BFJ2	Missense_Mutation	SNP	ENST00000375050.4	37	c.130G>T	CCDS4748.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564390	0.65651	.	.	ENSG00000204304	ENST00000375050	T	0.80653	-1.4	4.56	4.56	0.56223	.	0.219742	0.22684	N	0.056918	T	0.49098	0.1537	N	0.14661	0.345	0.37506	D	0.916978	B;B	0.30542	0.284;0.176	B;B	0.15052	0.012;0.012	T	0.58999	-0.7536	10	0.52906	T	0.07	-5.1027	10.8156	0.46573	0.0:0.8072:0.1928:0.0	.	44;44	Q7KZE5;P40425	.;PBX2_HUMAN	F	44	ENSP00000364190:V44F	ENSP00000364190:V44F	V	-	1	0	PBX2	32265541	0.974000	0.33945	1.000000	0.80357	0.971000	0.66376	1.692000	0.37731	2.062000	0.61559	0.542000	0.68232	GTC		0.711	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4			3	38	1	0	0.115264	0.115264	0.119614	3	38				
ASXL1	171023	broad.mit.edu	37	20	31021261	31021261	+	Silent	SNP	C	C	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr20:31021261C>T	ENST00000375687.4	+	12	1684	c.1260C>T	c.(1258-1260)gcC>gcT	p.A420A	ASXL1_ENST00000306058.5_Silent_p.A415A	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	420	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.A420A(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GAACCAGAGCCAGAAGGAATC	0.527			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		1	Substitution - coding silent(1)	p.A420A(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(1258-1260)gcC>gcT		additional sex combs like 1 (Drosophila)							87.0	88.0	88.0					20																	31021261		2203	4300	6503	SO:0001819	synonymous_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31021261C>T	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1260C>T	20.37:g.31021261C>T						ASXL1_ENST00000306058.5_Silent_p.A415A	p.A420A	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			12	1684	+			420					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	c.1260C>T	CCDS13201.1																																																																																				0.527	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		5	169	0	0	0	0.184627	0	5	169				
NCAPD3	23310	broad.mit.edu	37	11	134054637	134054637	+	Silent	SNP	C	C	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr11:134054637C>T	ENST00000534548.2	-	19	2410	c.2346G>A	c.(2344-2346)aaG>aaA	p.K782K	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	782					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.K782K(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TCAGCTTACACTTGACAGCAT	0.448																																						ENST00000534548.2																			1	Substitution - coding silent(1)	p.K782K(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2344-2346)aaG>aaA		non-SMC condensin II complex, subunit D3							76.0	73.0	74.0					11																	134054637		2201	4297	6498	SO:0001819	synonymous_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134054637C>T	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2346G>A	11.37:g.134054637C>T						RP11-700F16.3_ENST00000531710.1_RNA	p.K782K	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	19	2410	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	782					A6NFS2|Q4KMQ9	Silent	SNP	ENST00000534548.2	37	c.2346G>A	CCDS31723.1																																																																																				0.448	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		19	96	0	0	0	0.575678	0	19	96				
LCE1F	353137	broad.mit.edu	37	1	152748962	152748962	+	Missense_Mutation	SNP	C	C	G	rs116630978		TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr1:152748962C>G	ENST00000334371.2	+	1	115	c.115C>G	c.(115-117)Cct>Gct	p.P39A		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	39	Pro-rich.				keratinization (GO:0031424)			p.P39A(1)		kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			taagtgccctccTGTCTCTTC	0.677																																						ENST00000334371.2																			1	Substitution - Missense(1)	p.P39A(1)	prostate(1)	kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(115-117)Cct>Gct		late cornified envelope 1F							58.0	60.0	59.0					1																	152748962		2203	4300	6503	SO:0001583	missense	353137				keratinization			g.chr1:152748962C>G		CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"""Late cornified envelopes"""	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.115C>G	1.37:g.152748962C>G	ENSP00000334187:p.Pro39Ala						p.P39A	NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	115	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		39			Pro-rich.			Missense_Mutation	SNP	ENST00000334371.2	37	c.115C>G	CCDS1023.1	.	.	.	.	.	.	.	.	.	.	C	9.324	1.058869	0.19987	.	.	ENSG00000240386	ENST00000334371	T	0.03860	3.78	4.56	4.56	0.56223	.	.	.	.	.	T	0.03434	0.0099	L	0.58810	1.83	0.24184	N	0.995576	B	0.28760	0.221	B	0.31614	0.133	T	0.14671	-1.0464	9	0.87932	D	0	.	13.0238	0.58804	0.0:1.0:0.0:0.0	.	39	Q5T754	LCE1F_HUMAN	A	39	ENSP00000334187:P39A	ENSP00000334187:P39A	P	+	1	0	LCE1F	151015586	0.776000	0.28616	0.936000	0.37596	0.529000	0.34654	2.029000	0.41098	2.516000	0.84829	0.557000	0.71058	CCT		0.677	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2	NM_178354		14	84	0	0	0	0.479597	0	14	84				
ASPM	259266	broad.mit.edu	37	1	197073334	197073334	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr1:197073334T>C	ENST00000367409.4	-	18	5303	c.5047A>G	c.(5047-5049)Ata>Gta	p.I1683V	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1683	IQ 5. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.I1683V(1)|p.I1683fs*7(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGCAATTTTATTGTAGCATTT	0.303																																						ENST00000367409.4																			2	Substitution - Missense(1)|Deletion - Frameshift(1)	p.I1683V(1)|p.I1683fs*7(1)	prostate(1)|liver(1)	breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(5047-5049)Ata>Gta		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							53.0	54.0	54.0					1																	197073334		2201	4296	6497	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197073334T>C	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5047A>G	1.37:g.197073334T>C	ENSP00000356379:p.Ile1683Val					ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	p.I1683V	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	5303	-			1683			IQ 5.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.5047A>G	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	T	5.094	0.202998	0.09704	.	.	ENSG00000066279	ENST00000367409	T	0.71817	-0.6	5.52	-1.36	0.09085	.	0.438834	0.24967	N	0.034177	T	0.42063	0.1186	N	0.12502	0.225	0.46336	D	0.998992	B	0.11235	0.004	B	0.16722	0.016	T	0.12344	-1.0551	10	0.09338	T	0.73	.	6.207	0.20608	0.1161:0.3448:0.0:0.5391	.	1683	Q8IZT6	ASPM_HUMAN	V	1683	ENSP00000356379:I1683V	ENSP00000356379:I1683V	I	-	1	0	ASPM	195339957	0.039000	0.19947	0.220000	0.23810	0.913000	0.54294	0.164000	0.16542	-0.399000	0.07668	-0.361000	0.07541	ATA		0.303	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		4	125	0	0	0	0.150653	0	4	125				
LPAR1	1902	broad.mit.edu	37	9	113703743	113703743	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr9:113703743C>T	ENST00000374431.3	-	4	1134	c.751G>A	c.(751-753)Gat>Aat	p.D251N	LPAR1_ENST00000538760.1_Missense_Mutation_p.D252N|LPAR1_ENST00000374430.2_Missense_Mutation_p.D251N|LPAR1_ENST00000358883.4_Missense_Mutation_p.D251N|LPAR1_ENST00000541779.1_Missense_Mutation_p.D252N	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	251					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)	p.D251N(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						ATCATGGTATCCCGATTCCGC	0.443																																					NSCLC(115;661 2323 9836 34256)	ENST00000374431.3																			1	Substitution - Missense(1)	p.D251N(1)	prostate(1)	breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						c.(751-753)Gat>Aat		lysophosphatidic acid receptor 1							82.0	84.0	83.0					9																	113703743		2203	4300	6503	SO:0001583	missense	1902				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		g.chr9:113703743C>T	U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3166	protein-coding gene	gene with protein product		602282	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"""	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.751G>A	9.37:g.113703743C>T	ENSP00000363553:p.Asp251Asn					LPAR1_ENST00000358883.4_Missense_Mutation_p.D251N|LPAR1_ENST00000541779.1_Missense_Mutation_p.D252N|LPAR1_ENST00000538760.1_Missense_Mutation_p.D252N|LPAR1_ENST00000374430.2_Missense_Mutation_p.D251N	p.D251N	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN			4	1134	-			251					B4DK36|O00656|O00722|P78351	Missense_Mutation	SNP	ENST00000374431.3	37	c.751G>A	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736071	0.89482	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760	T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6	5.19	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.63355	0.2504	N	0.04880	-0.145	0.80722	D	1	D;D;D	0.55385	0.971;0.971;0.971	P;P;P	0.56343	0.796;0.796;0.796	T	0.71300	-0.4634	10	0.87932	D	0	.	12.7949	0.57555	0.0:0.9209:0.0:0.0791	.	252;252;251	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	N	251;252;251;251;233;252	ENSP00000363553:D251N;ENSP00000445697:D252N;ENSP00000363552:D251N;ENSP00000351755:D251N;ENSP00000440201:D252N	ENSP00000351755:D251N	D	-	1	0	LPAR1	112743564	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	1.205000	0.43262	0.563000	0.77884	GAT		0.443	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159		24	98	0	0	0	0.667858	0	24	98				
UNC5B	219699	broad.mit.edu	37	10	73050857	73050857	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr10:73050857G>A	ENST00000335350.6	+	9	1701	c.1285G>A	c.(1285-1287)Gca>Aca	p.A429T	UNC5B_ENST00000373192.4_Missense_Mutation_p.A418T	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	429					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)		p.A429T(2)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CTTTAAGACGGCAAGGCCCAG	0.597																																						ENST00000335350.6																			2	Substitution - Missense(2)	p.A429T(2)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(1285-1287)Gca>Aca		unc-5 homolog B (C. elegans)							165.0	158.0	160.0					10																	73050857		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73050857G>A	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1285G>A	10.37:g.73050857G>A	ENSP00000334329:p.Ala429Thr					UNC5B_ENST00000373192.4_Missense_Mutation_p.A418T	p.A429T	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			9	1701	+			429					Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.1285G>A	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	G	4.088	0.014355	0.07959	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.51574	0.78;0.7	5.39	2.49	0.30216	.	0.365957	0.31495	N	0.007559	T	0.37758	0.1015	L	0.53249	1.67	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.10450	0.005;0.002	T	0.25152	-1.0140	10	0.31617	T	0.26	-3.4221	6.4845	0.22081	0.1408:0.0:0.4509:0.4083	.	418;429	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	T	429;418	ENSP00000334329:A429T;ENSP00000362288:A418T	ENSP00000334329:A429T	A	+	1	0	UNC5B	72720863	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	1.081000	0.30791	0.253000	0.21552	-0.136000	0.14681	GCA		0.597	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		7	330	0	0	0	0.278610	0	7	330				
MT-CYB	4519	broad.mit.edu	37	M	14872	14872	+	Silent	SNP	C	C	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chrM:14872C>T	ENST00000361789.2	+	1	126	c.126C>T	c.(124-126)atC>atT	p.I42I	MT-ND6_ENST00000361681.2_5'Flank|MT-TP_ENST00000387461.2_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA			P00156	CYB_HUMAN	mitochondrially encoded cytochrome b	42					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						GCCTGCCTGATCCTCCAAATC	0.488																																						ENST00000361789.2																			0				breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						c.(124-126)atC>atT		mitochondrially encoded cytochrome b																																				SO:0001819	synonymous_variant	4519							g.chrM:14872C>T			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198727	ENSG00000198727		"""Cytochrome b genes"", ""Mitochondrial respiratory chain complex / Complex III"""	7427	protein-coding gene	gene with protein product		516020	"""cytochrome b"""	MTCYB			Standard			Approved	COB, CYTB, UQCR3		P00156		ENST00000361789.2:c.126C>T	M.37:g.14872C>T							p.42_42insI							1	126	+								Q34786|Q8HBR6|Q8HNQ0|Q8HNQ1|Q8HNQ9|Q8HNR4|Q8HNR7|Q8W7V8|Q8WCV9|Q8WCY2|Q8WCY7|Q8WCY8|Q9B1A6|Q9B1B6|Q9B1B8|Q9B1D4|Q9B1X6|Q9B2V0|Q9B2V8|Q9B2W0|Q9B2W3|Q9B2W8|Q9B2X1|Q9B2X7|Q9B2X9|Q9B2Y3|Q9B2Z0|Q9B2Z4|Q9T6H6|Q9T9Y0|Q9TEH4	Missense_Mutation	SNP	ENST00000361789.2	37	c.126C>T																																																																																					0.488	MT-CYB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024038		3	13	0	0	0	0.115264	0	3	13				
RAPGEF2	9693	broad.mit.edu	37	4	160260299	160260299	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr4:160260299C>T	ENST00000264431.4	+	13	2263	c.1844C>T	c.(1843-1845)gCt>gTt	p.A615V		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	615	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.A615V(1)|p.A603V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GTTTTTAAGGCTGATCAGCAA	0.423																																						ENST00000264431.4																			2	Substitution - Missense(2)	p.A615V(1)|p.A603V(1)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70						c.(1843-1845)gCt>gTt		Rap guanine nucleotide exchange factor (GEF) 2							169.0	152.0	157.0					4																	160260299		1893	4108	6001	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160260299C>T	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.1844C>T	4.37:g.160260299C>T	ENSP00000264431:p.Ala615Val						p.A615V	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	13	2263	+	all_hematologic(180;0.24)		615			Ras-associating.		D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.1844C>T	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961132	0.92791	.	.	ENSG00000109756	ENST00000264431	T	0.16073	2.37	5.57	5.57	0.84162	Ras-association (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.31104	0.0786	M	0.68952	2.095	0.80722	D	1	P	0.36874	0.572	B	0.44278	0.445	T	0.01356	-1.1376	10	0.41790	T	0.15	.	19.5396	0.95268	0.0:1.0:0.0:0.0	.	615	Q9Y4G8	RPGF2_HUMAN	V	615	ENSP00000264431:A615V	ENSP00000264431:A615V	A	+	2	0	RAPGEF2	160479749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.707000	0.84623	2.611000	0.88343	0.591000	0.81541	GCT		0.423	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		6	355	0	0	0	0.217242	0	6	355				
VPS13C	54832	broad.mit.edu	37	15	62146723	62146723	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr15:62146723G>A	ENST00000261517.5	-	85	11268	c.11195C>T	c.(11194-11196)aCg>aTg	p.T3732M	RP11-16B9.1_ENST00000559251.1_RNA|VPS13C_ENST00000249837.3_Missense_Mutation_p.T3689M	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.T3732M(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTGCTGTCTCGTTGACTGTGC	0.408																																						ENST00000261517.5																			1	Substitution - Missense(1)	p.T3732M(1)	prostate(1)	NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(11194-11196)aCg>aTg		vacuolar protein sorting 13 homolog C (S. cerevisiae)							213.0	189.0	197.0					15																	62146723		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62146723G>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.11195C>T	15.37:g.62146723G>A	ENSP00000261517:p.Thr3732Met					VPS13C_ENST00000249837.3_Missense_Mutation_p.T3689M	p.T3732M	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			85	11268	-			3732						Missense_Mutation	SNP	ENST00000261517.5	37	c.11195C>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	9.324	1.058772	0.19987	.	.	ENSG00000129003	ENST00000249837;ENST00000261517	T;T	0.44881	0.91;0.91	5.36	-0.816	0.10839	.	0.812146	0.11498	N	0.558019	T	0.24122	0.0584	N	0.19112	0.55	0.09310	N	1	B;B	0.13145	0.004;0.007	B;B	0.10450	0.005;0.003	T	0.18650	-1.0330	10	0.59425	D	0.04	.	5.253	0.15532	0.325:0.3516:0.3234:0.0	.	3689;3732	Q709C8-3;Q709C8	.;VP13C_HUMAN	M	3689;3732	ENSP00000249837:T3689M;ENSP00000261517:T3732M	ENSP00000249837:T3689M	T	-	2	0	VPS13C	59934015	0.002000	0.14202	0.005000	0.12908	0.619000	0.37552	0.030000	0.13688	-0.287000	0.09064	0.650000	0.86243	ACG		0.408	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		10	453	0	0	0	0.387290	0	10	453				
HSF1	3297	broad.mit.edu	37	8	145534873	145534873	+	Silent	SNP	C	C	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr8:145534873C>T	ENST00000528838.1	+	5	662	c.502C>T	c.(502-504)Ctg>Ttg	p.L168L	HSF1_ENST00000400780.4_Silent_p.L103L	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	168	Hydrophobic repeat HR-A/B.				cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L168L(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			GAATGAGGCTCTGTGGCGGGA	0.667																																						ENST00000528838.1																			1	Substitution - coding silent(1)	p.L168L(1)	prostate(1)	endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11						c.(502-504)Ctg>Ttg		heat shock transcription factor 1							15.0	15.0	15.0					8																	145534873		2199	4291	6490	SO:0001819	synonymous_variant	3297					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:145534873C>T	M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.502C>T	8.37:g.145534873C>T						HSF1_ENST00000400780.4_Silent_p.L103L	p.L168L	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)		5	662	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		168			Hydrophobic repeat HR-A/B.		A8K4L0|A8MW26|Q53XT4	Silent	SNP	ENST00000528838.1	37	c.502C>T	CCDS6419.1																																																																																				0.667	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1	NM_005526		3	3	0	0	0	0.115264	0	3	3				
ZNF333	84449	broad.mit.edu	37	19	14829747	14829747	+	Silent	SNP	C	C	T	rs200988086	byFrequency	TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr19:14829747C>T	ENST00000292530.6	+	12	1699	c.1608C>T	c.(1606-1608)tgC>tgT	p.C536C	ZNF333_ENST00000536363.1_Silent_p.C427C|ZNF333_ENST00000540689.2_Intron	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	536					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C536C(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						TGTATGAGTGCGCGACTTGCG	0.527													C|||	2	0.000399361	0.0	0.0	5008	,	,		22237	0.0		0.002	False		,,,				2504	0.0				NSCLC(60;75 1281 16985 25154 29885)	ENST00000292530.6																			1	Substitution - coding silent(1)	p.C536C(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						c.(1606-1608)tgC>tgT		zinc finger protein 333							102.0	82.0	88.0					19																	14829747		2203	4300	6503	SO:0001819	synonymous_variant	84449				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:14829747C>T		CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"""Zinc fingers, C2H2-type"", ""-"""	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.1608C>T	19.37:g.14829747C>T						ZNF333_ENST00000540689.2_Intron|ZNF333_ENST00000536363.1_Silent_p.C427C	p.C536C	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN			12	1699	+			536					Q6P2E6|Q86WS6|Q8TDL0	Silent	SNP	ENST00000292530.6	37	c.1608C>T	CCDS12316.1																																																																																				0.527	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433		13	76	0	0	0	0.411799	0	13	76				
PRODH2	58510	broad.mit.edu	37	19	36297714	36297714	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr19:36297714C>T	ENST00000301175.3	-	7	942	c.925G>A	c.(925-927)Gtg>Atg	p.V309M		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	309					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)	p.V309M(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	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)			AGGAGCCGCACGTGCTGGGCC	0.682																																						ENST00000301175.3																			1	Substitution - Missense(1)	p.V309M(1)	prostate(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(925-927)Gtg>Atg		proline dehydrogenase (oxidase) 2							19.0	19.0	19.0					19																	36297714		2201	4295	6496	SO:0001583	missense	58510				glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	g.chr19:36297714C>T	U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.925G>A	19.37:g.36297714C>T	ENSP00000301175:p.Val309Met						p.V309M	NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	942	-	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		309						Missense_Mutation	SNP	ENST00000301175.3	37	c.925G>A	CCDS12478.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874410	0.91664	.	.	ENSG00000250799	ENST00000301175	T	0.39056	1.1	4.94	4.94	0.65067	Proline dehydrogenase (1);	.	.	.	.	T	0.68796	0.3040	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.74791	-0.3545	9	0.72032	D	0.01	.	15.7097	0.77615	0.0:1.0:0.0:0.0	.	309	Q9UF12	PROD2_HUMAN	M	309	ENSP00000301175:V309M	ENSP00000301175:V309M	V	-	1	0	PRODH2	40989554	1.000000	0.71417	0.201000	0.23476	0.440000	0.31957	5.499000	0.66937	2.574000	0.86865	0.591000	0.81541	GTG		0.682	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232		4	17	0	0	0	0.150653	0	4	17				
SPATA31A3	727830	broad.mit.edu	37	9	40702847	40702847	+	Silent	SNP	C	C	A			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr9:40702847C>A	ENST00000356699.5	+	4	533	c.504C>A	c.(502-504)acC>acA	p.T168T	SPATA31A3_ENST00000463536.1_3'UTR|RP11-395E19.5_ENST00000432614.1_lincRNA	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	168	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.T168T(2)									TGGCCTCCACCCCATCACCAG	0.597																																						ENST00000356699.5																			2	Substitution - coding silent(2)	p.T168T(2)	prostate(2)								c.(502-504)acC>acA		SPATA31 subfamily A, member 3							28.0	31.0	30.0					9																	40702847		1190	2947	4137	SO:0001819	synonymous_variant	727830							g.chr9:40702847C>A			9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A3"""	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.504C>A	9.37:g.40702847C>A						SPATA31A3_ENST00000463536.1_3'UTR	p.T168T	NM_001083124.1	NP_001076593.1					4	533	+									Silent	SNP	ENST00000356699.5	37	c.504C>A	CCDS47969.1																																																																																				0.597	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036919.1	NM_001083124		20	445	1	0	4.22769e-11	0.706142	4.84423e-11	20	445				
RSPH4A	345895	broad.mit.edu	37	6	116948990	116948990	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr6:116948990C>T	ENST00000229554.5	+	3	1257	c.1120C>T	c.(1120-1122)Cgt>Tgt	p.R374C	RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Missense_Mutation_p.R374C	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	374	Glu-rich.				axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)		p.R374C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGTGGAATTTCGTgaggggga	0.453									Kartagener syndrome																													ENST00000229554.5																			1	Substitution - Missense(1)	p.R374C(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1120-1122)Cgt>Tgt		radial spoke head 4 homolog A (Chlamydomonas)							75.0	76.0	76.0					6																	116948990		2203	4300	6503	SO:0001583	missense	345895	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		g.chr6:116948990C>T		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.1120C>T	6.37:g.116948990C>T	ENSP00000229554:p.Arg374Cys					RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Missense_Mutation_p.R374C	p.R374C	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN			3	1257	+			374			Glu-rich.		B4DSI1|Q3KP24|Q5TD95	Missense_Mutation	SNP	ENST00000229554.5	37	c.1120C>T	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143925	0.77888	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000447842	T;T	0.18810	2.19;2.19	5.48	5.48	0.80851	.	0.050582	0.85682	D	0.000000	T	0.44973	0.1319	M	0.84433	2.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.972;0.989	T	0.50923	-0.8770	10	0.72032	D	0.01	-11.3144	16.8276	0.85935	0.0:1.0:0.0:0.0	.	374;374	Q5TD94-3;Q5TD94	.;RSH4A_HUMAN	C	374;374;169	ENSP00000357570:R374C;ENSP00000229554:R374C	ENSP00000229554:R374C	R	+	1	0	RSPH4A	117055683	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.973000	0.56845	2.542000	0.85734	0.591000	0.81541	CGT		0.453	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892		18	100	0	0	0	0.520397	0	18	100				
KRBA1	84626	broad.mit.edu	37	7	149431015	149431015	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr7:149431015C>G	ENST00000485033.2	+	15	2789	c.2789C>G	c.(2788-2790)gCa>gGa	p.A930G	KRBA1_ENST00000255992.10_Missense_Mutation_p.A990G|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Missense_Mutation_p.A930G			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	991	Pro-rich.							p.A990G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCAGGAGTGGCACCAGACGGG	0.667																																						ENST00000255992.10																			1	Substitution - Missense(1)	p.A990G(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27						c.(2968-2970)gCa>gGa		KRAB-A domain containing 1							10.0	13.0	12.0					7																	149431015		1959	4161	6120	SO:0001583	missense	84626							g.chr7:149431015C>G	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.2789C>G	7.37:g.149431015C>G	ENSP00000420112:p.Ala930Gly					KRBA1_ENST00000319551.8_Missense_Mutation_p.A930G|KRBA1_ENST00000485033.2_Missense_Mutation_p.A930G|KRBA1_ENST00000479560.1_3'UTR	p.A990G	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		18	3368	+	Melanoma(164;0.165)|Ovarian(565;0.177)		991			Pro-rich.		A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	ENST00000485033.2	37	c.2969C>G		.	.	.	.	.	.	.	.	.	.	C	19.81	3.896013	0.72639	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.47528	0.88;0.84;0.84	5.05	-2.42	0.06542	.	0.499782	0.15043	N	0.283767	T	0.29882	0.0747	.	.	.	0.09310	N	1	B;B	0.24258	0.1;0.037	B;B	0.23018	0.043;0.025	T	0.22068	-1.0227	9	0.66056	D	0.02	-0.6479	5.5429	0.17047	0.0:0.2823:0.1576:0.56	.	930;991	E7ENE9;A5PL33	.;KRBA1_HUMAN	G	990;930;930	ENSP00000255992:A990G;ENSP00000317165:A930G;ENSP00000420112:A930G	ENSP00000255992:A990G	A	+	2	0	KRBA1	149061948	0.000000	0.05858	0.000000	0.03702	0.545000	0.35147	-0.210000	0.09345	-0.084000	0.12595	0.655000	0.94253	GCA		0.667	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534		2	10	0	0	0	0.115264	0	2	10				
RP11-423O2.5	0	broad.mit.edu	37	1	142803363	142803363	+	lincRNA	SNP	T	T	C	rs61814263	byFrequency	TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr1:142803363T>C	ENST00000423385.1	-	0	1602																											tagagtcttattatgtttccc	0.403																																						ENST00000423385.1																			0																																																			0							g.chr1:142803363T>C																													1.37:g.142803363T>C														0	1602	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.403	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			5	20	0	0	0	0.217242	0	5	20				
LMO7	4008	broad.mit.edu	37	13	76374992	76374992	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr13:76374992A>G	ENST00000341547.4	+	8	2051	c.791A>G	c.(790-792)gAt>gGt	p.D264G	RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000357063.3_Missense_Mutation_p.D264G|LMO7_ENST00000377534.3_Missense_Mutation_p.D264G|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000526202.1_Missense_Mutation_p.D173G	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	264					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D264G(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TGCTCCTCTGATATCACGTTG	0.458																																						ENST00000357063.3																			2	Substitution - Missense(2)	p.D264G(2)	prostate(2)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(790-792)gAt>gGt		LIM domain 7							169.0	177.0	174.0					13																	76374992		2203	4300	6503	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76374992A>G	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.791A>G	13.37:g.76374992A>G	ENSP00000342112:p.Asp264Gly					LMO7_ENST00000377534.3_Missense_Mutation_p.D264G|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000341547.4_Missense_Mutation_p.D264G|LMO7_ENST00000526202.1_Missense_Mutation_p.D173G|RP11-29G8.3_ENST00000563635.1_RNA	p.D264G			Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	8	2051	+		Breast(118;0.0992)	264					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000341547.4	37	c.791A>G	CCDS9454.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.786222	0.90282	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000526202	T;T;T;T;T	0.60672	0.82;0.55;0.55;0.32;0.17	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.72399	0.3455	M	0.77820	2.39	0.58432	D	0.999999	P;P;B	0.43607	0.772;0.812;0.119	B;P;B	0.53722	0.443;0.733;0.036	T	0.76318	-0.3003	10	0.87932	D	0	-21.8743	15.7842	0.78289	1.0:0.0:0.0:0.0	.	173;264;212	E9PMS6;Q8WWI1-3;F8J2B5	.;.;.	G	264;264;264;212;173	ENSP00000342112:D264G;ENSP00000349571:D264G;ENSP00000366757:D264G;ENSP00000366719:D212G;ENSP00000431129:D173G	ENSP00000342112:D264G	D	+	2	0	LMO7	75272993	1.000000	0.71417	0.794000	0.32065	0.878000	0.50629	5.681000	0.68175	2.130000	0.65690	0.482000	0.46254	GAT		0.458	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045297.1	NM_005358		14	328	0	0	0	0.520397	0	14	328				
RIPK2	8767	broad.mit.edu	37	8	90801576	90801576	+	Missense_Mutation	SNP	A	A	G	rs200241122		TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr8:90801576A>G	ENST00000220751.4	+	10	1465	c.1151A>G	c.(1150-1152)aAg>aGg	p.K384R	RIPK2_ENST00000540020.1_Missense_Mutation_p.K247R	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	384					activation of MAPK activity (GO:0000187)|adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immature T cell proliferation (GO:0033091)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|response to exogenous dsRNA (GO:0043330)|response to interleukin-1 (GO:0070555)|response to interleukin-12 (GO:0070671)|response to interleukin-18 (GO:0070673)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|LIM domain binding (GO:0030274)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.K384R(2)		kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TATTTTATGAAGCTGCATCAC	0.398																																						ENST00000220751.4																			2	Substitution - Missense(2)	p.K384R(2)	prostate(2)	kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10						c.(1150-1152)aAg>aGg		receptor-interacting serine-threonine kinase 2							140.0	132.0	134.0					8																	90801576		2203	4300	6503	SO:0001583	missense	8767				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity	g.chr8:90801576A>G	AC004003	CCDS6247.1	8q21	2008-05-02			ENSG00000104312	ENSG00000104312			10020	protein-coding gene	gene with protein product		603455				9575181, 9705938	Standard	XM_005251092		Approved	RICK, RIP2, CARDIAK, CARD3	uc003yee.3	O43353	OTTHUMG00000163809	ENST00000220751.4:c.1151A>G	8.37:g.90801576A>G	ENSP00000220751:p.Lys384Arg					RIPK2_ENST00000540020.1_Missense_Mutation_p.K247R	p.K384R	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0474)		10	1465	+			384					B7Z748|Q6UWF0	Missense_Mutation	SNP	ENST00000220751.4	37	c.1151A>G	CCDS6247.1	.	.	.	.	.	.	.	.	.	.	A	6.338	0.430463	0.12045	.	.	ENSG00000104312	ENST00000220751;ENST00000540020	T;T	0.80909	-1.21;-1.43	5.89	-6.02	0.02192	.	2.123510	0.02477	N	0.088139	T	0.58991	0.2161	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.15052	0.012	T	0.50065	-0.8871	10	0.15952	T	0.53	4.052	2.7618	0.05308	0.2272:0.4171:0.1527:0.203	.	384	O43353	RIPK2_HUMAN	R	384;247	ENSP00000220751:K384R;ENSP00000441623:K247R	ENSP00000220751:K384R	K	+	2	0	RIPK2	90870717	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.412000	0.07132	-1.462000	0.01907	-2.465000	0.00204	AAG		0.398	RIPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375686.1			6	259	0	0	0	0.248553	0	6	259				
CCDC142	84865	broad.mit.edu	37	2	74708964	74708964	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr2:74708964A>T	ENST00000393965.3	-	1	1397	c.1001T>A	c.(1000-1002)cTg>cAg	p.L334Q	TTC31_ENST00000233623.5_5'Flank|TTC31_ENST00000442235.2_5'Flank|CCDC142_ENST00000290418.4_Missense_Mutation_p.L334Q|TTC31_ENST00000410003.1_5'Flank|CCDC142_ENST00000471713.1_5'UTR	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	334								p.L334Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						TGCCTGACTCAGCTGTTGCGC	0.612																																						ENST00000393965.3																			1	Substitution - Missense(1)	p.L334Q(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						c.(1000-1002)cTg>cAg		coiled-coil domain containing 142							84.0	74.0	77.0					2																	74708964		2203	4300	6503	SO:0001583	missense	84865							g.chr2:74708964A>T	AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.1001T>A	2.37:g.74708964A>T	ENSP00000377537:p.Leu334Gln					CCDC142_ENST00000290418.4_Missense_Mutation_p.L334Q|CCDC142_ENST00000471713.1_5'UTR	p.L334Q	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN			1	1397	-			334					B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Missense_Mutation	SNP	ENST00000393965.3	37	c.1001T>A		.	.	.	.	.	.	.	.	.	.	A	18.04	3.534691	0.64972	.	.	ENSG00000135637	ENST00000393965;ENST00000290418	T;T	0.61742	0.08;0.08	5.01	3.86	0.44501	.	0.000000	0.39146	N	0.001444	T	0.69540	0.3122	M	0.73598	2.24	0.38945	D	0.958225	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.63877	0.919;0.919;0.919	T	0.72424	-0.4298	10	0.87932	D	0	-10.1471	7.3479	0.26674	0.9023:0.0:0.0977:0.0	.	334;334;334	Q17RM4;Q17RM4-2;Q17RM4-3	CC142_HUMAN;.;.	Q	334	ENSP00000377537:L334Q;ENSP00000290418:L334Q	ENSP00000290418:L334Q	L	-	2	0	CCDC142	74562472	1.000000	0.71417	0.987000	0.45799	0.987000	0.75469	4.544000	0.60691	0.939000	0.37446	0.533000	0.62120	CTG		0.612	CCDC142-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328391.1	NM_032779		8	111	0	0	0	0.278610	0	8	111				
PCDHA2	56146	broad.mit.edu	37	5	140176553	140176553	+	Silent	SNP	G	G	A	rs369554786		TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr5:140176553G>A	ENST00000526136.1	+	1	2004	c.2004G>A	c.(2002-2004)tcG>tcA	p.S668S	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.S668S|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.S668S	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	668	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S668S(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTAGTGTCGTTGGTGGAAA	0.652																																						ENST00000526136.1																			2	Substitution - coding silent(2)	p.S668S(2)	prostate(2)	NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(2002-2004)tcG>tcA				G	,,,	1,4405	2.1+/-5.4	0,1,2202	75.0	75.0	75.0		,2004,,2004	-1.7	1.0	5		75	0,8600		0,0,4300	no	intron,coding-synonymous,intron,coding-synonymous	PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_031411.1,NM_031495.1	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	,668/949,,668/825	140176553	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140176553G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2004G>A	5.37:g.140176553G>A						PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.S668S|PCDHA2_ENST00000520672.2_Silent_p.S668S	p.S668S	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2004	+								O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.2004G>A	CCDS54914.1																																																																																				0.652	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		11	126	0	0	0	0.387290	0	11	126				
ALDOC	230	broad.mit.edu	37	17	26901519	26901519	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr17:26901519G>T	ENST00000226253.4	-	6	1092	c.617C>A	c.(616-618)aCa>aAa	p.T206K	ALDOC_ENST00000395319.3_Intron|PIGS_ENST00000395346.2_5'Flank|PIGS_ENST00000543734.1_5'Flank|RP11-192H23.5_ENST00000585189.1_RNA|PIGS_ENST00000308360.7_5'Flank|ALDOC_ENST00000395321.2_Missense_Mutation_p.T206K	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	206					aging (GO:0007568)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|organ regeneration (GO:0031100)|protein heterotetramerization (GO:0051290)|protein homotetramerization (GO:0051289)|response to hypoxia (GO:0001666)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	cytoskeletal protein binding (GO:0008092)|fructose-bisphosphate aldolase activity (GO:0004332)	p.T206K(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					CACCTTCTCTGTAACATACTG	0.517																																						ENST00000226253.4																			1	Substitution - Missense(1)	p.T206K(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(616-618)aCa>aAa		aldolase C, fructose-bisphosphate							216.0	193.0	200.0					17																	26901519		2203	4300	6503	SO:0001583	missense	230				fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity	g.chr17:26901519G>T	AF054987	CCDS11236.1	17q11.2	2013-09-20			ENSG00000109107	ENSG00000109107	4.1.2.13		418	protein-coding gene	gene with protein product		103870					Standard	XM_005257947		Approved		uc002hbp.3	P09972	OTTHUMG00000132605	ENST00000226253.4:c.617C>A	17.37:g.26901519G>T	ENSP00000226253:p.Thr206Lys					ALDOC_ENST00000395319.3_Intron|ALDOC_ENST00000395321.2_Missense_Mutation_p.T206K	p.T206K	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN			6	1092	-	Lung NSC(42;0.00431)		206					B2R5R3|Q3SYL3|Q6FH94|Q6P0L5	Missense_Mutation	SNP	ENST00000226253.4	37	c.617C>A	CCDS11236.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766264	0.90020	.	.	ENSG00000109107	ENST00000226253;ENST00000395321	D;D	0.86956	-2.19;-2.19	5.9	5.9	0.94986	Aldolase-type TIM barrel (1);	0.045796	0.85682	D	0.000000	D	0.96175	0.8753	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.96917	0.9671	10	0.87932	D	0	-2.5834	19.8718	0.96853	0.0:0.0:1.0:0.0	.	206	P09972	ALDOC_HUMAN	K	206	ENSP00000226253:T206K;ENSP00000378731:T206K	ENSP00000226253:T206K	T	-	2	0	ALDOC	23925646	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.746000	0.74866	2.808000	0.96608	0.650000	0.86243	ACA		0.517	ALDOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255839.4			12	314	1	0	2.27111e-07	0.411799	2.49822e-07	12	314				
CPNE6	9362	broad.mit.edu	37	14	24543288	24543288	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr14:24543288C>T	ENST00000397016.2	+	5	688	c.377C>T	c.(376-378)cCa>cTa	p.P126L	CPNE6_ENST00000537691.1_Missense_Mutation_p.P181L|CPNE6_ENST00000560092.1_3'UTR|CPNE6_ENST00000216775.2_Missense_Mutation_p.P126L	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	126					lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GTCACTAAGCCATTATTGCTG	0.532																																						ENST00000397016.2																			0				endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22						c.(376-378)cCa>cTa		copine VI (neuronal)							141.0	114.0	123.0					14																	24543288		2203	4300	6503	SO:0001583	missense	9362				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity	g.chr14:24543288C>T	AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.377C>T	14.37:g.24543288C>T	ENSP00000380211:p.Pro126Leu					CPNE6_ENST00000560092.1_3'UTR|CPNE6_ENST00000216775.2_Missense_Mutation_p.P126L|CPNE6_ENST00000537691.1_Missense_Mutation_p.P181L	p.P126L			O95741	CPNE6_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	5	688	+			126					B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Missense_Mutation	SNP	ENST00000397016.2	37	c.377C>T	CCDS9607.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511982	0.64522	.	.	ENSG00000100884	ENST00000537691;ENST00000397016;ENST00000216775	T;T;T	0.46451	0.87;0.87;0.87	4.59	4.59	0.56863	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.48286	D	0.000182	T	0.49372	0.1553	M	0.72479	2.2	0.46749	D	0.999182	P;P	0.47762	0.9;0.745	P;B	0.48400	0.576;0.215	T	0.55328	-0.8158	10	0.87932	D	0	-34.7001	10.7406	0.46152	0.0:0.807:0.193:0.0	.	181;126	F5GXN1;O95741	.;CPNE6_HUMAN	L	181;126;126	ENSP00000440077:P181L;ENSP00000380211:P126L;ENSP00000216775:P126L	ENSP00000216775:P126L	P	+	2	0	CPNE6	23613128	1.000000	0.71417	0.968000	0.41197	0.778000	0.44026	4.673000	0.61604	2.394000	0.81467	0.467000	0.42956	CCA		0.532	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071869.5			18	90	0	0	0	0.557998	0	18	90				
CPS1	1373	broad.mit.edu	37	2	211454904	211454904	+	Silent	SNP	G	G	A			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr2:211454904G>A	ENST00000233072.5	+	8	982	c.786G>A	c.(784-786)gcG>gcA	p.A262A	CPS1_ENST00000430249.2_Silent_p.A268A	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	262	Glutamine amidotransferase type-1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.A262A(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TTTTGATCGCGGGAGGACCGG	0.483																																						ENST00000233072.5																			1	Substitution - coding silent(1)	p.A262A(1)	prostate(1)	breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(784-786)gcG>gcA		carbamoyl-phosphate synthase 1, mitochondrial							222.0	231.0	228.0					2																	211454904		2203	4300	6503	SO:0001819	synonymous_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211454904G>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.786G>A	2.37:g.211454904G>A						CPS1_ENST00000430249.2_Silent_p.A268A	p.A262A	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	8	982	+			262			Glutamine amidotransferase type-1.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	c.786G>A	CCDS2393.1																																																																																				0.483	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			24	534	0	0	0	0.639603	0	24	534				
EYA2	2139	broad.mit.edu	37	20	45797830	45797830	+	Missense_Mutation	SNP	A	A	C	rs143610627		TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr20:45797830A>C	ENST00000327619.5	+	11	1396	c.1022A>C	c.(1021-1023)aAt>aCt	p.N341T	EYA2_ENST00000317304.6_Missense_Mutation_p.N311T|EYA2_ENST00000357410.3_Missense_Mutation_p.N341T|MIR3616_ENST00000584070.1_RNA	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	341					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)	p.N341T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TCAGATGACAATGGCCAAGAT	0.428																																					Pancreas(120;56 1725 18501 25218 43520)	ENST00000327619.5																			1	Substitution - Missense(1)	p.N341T(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(1021-1023)aAt>aCt		eyes absent homolog 2 (Drosophila)							166.0	157.0	160.0					20																	45797830		2203	4300	6503	SO:0001583	missense	2139				DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	g.chr20:45797830A>C		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.1022A>C	20.37:g.45797830A>C	ENSP00000333640:p.Asn341Thr					EYA2_ENST00000317304.6_Missense_Mutation_p.N311T|EYA2_ENST00000357410.3_Missense_Mutation_p.N341T	p.N341T	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN			11	1396	+		Myeloproliferative disorder(115;0.0241)	341					Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	ENST00000327619.5	37	c.1022A>C	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.236929	0.79800	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304	D;D;D	0.91996	-1.62;-1.62;-2.95	5.29	5.29	0.74685	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.95335	0.8486	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.76494	0.993;0.999;0.997;0.993	D;D;D;D	0.85130	0.957;0.997;0.985;0.979	D	0.95837	0.8863	10	0.87932	D	0	-7.9949	15.2302	0.73381	1.0:0.0:0.0:0.0	.	341;311;341;341	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	T	341;341;311;311	ENSP00000333640:N341T;ENSP00000349986:N341T;ENSP00000321590:N311T	ENSP00000321590:N311T	N	+	2	0	EYA2	45231237	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.335000	0.96500	1.982000	0.57802	0.528000	0.53228	AAT		0.428	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		43	196	0	0	0	0.870114	0	43	196				
SIPA1L1	26037	broad.mit.edu	37	14	72054698	72054698	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr14:72054698C>T	ENST00000555818.1	+	2	457	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R37W|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R37W	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	37					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.R37W(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTTCTACATGCGGCGCTTCCG	0.547																																						ENST00000555818.1																			1	Substitution - Missense(1)	p.R37W(1)	prostate(1)	NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(109-111)Cgg>Tgg		signal-induced proliferation-associated 1 like 1							87.0	90.0	89.0					14																	72054698		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72054698C>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.109C>T	14.37:g.72054698C>T	ENSP00000450832:p.Arg37Trp					SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R37W|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R37W	p.R37W	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	2	457	+			37					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.109C>T	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365974	0.61513	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.79141	-1.24;-1.23;-1.24	5.48	3.49	0.39957	.	0.000000	0.85682	D	0.000000	D	0.83746	0.5321	L	0.55990	1.75	0.80722	D	1	D;D;D	0.89917	1.0;0.978;1.0	D;P;D	0.77557	0.99;0.566;0.99	D	0.84354	0.0534	10	0.54805	T	0.06	-17.4715	12.4248	0.55540	0.5159:0.4841:0.0:0.0	.	37;37;37	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	W	37	ENSP00000370630:R37W;ENSP00000450832:R37W;ENSP00000351352:R37W	ENSP00000351352:R37W	R	+	1	2	SIPA1L1	71124451	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	2.803000	0.47924	1.387000	0.46486	0.655000	0.94253	CGG		0.547	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		7	190	0	0	0	0.278610	0	7	190				
BAHCC1	57597	broad.mit.edu	37	17	79409621	79409621	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr17:79409621G>A	ENST00000307745.7	+	9	1246	c.1246G>A	c.(1246-1248)Gtg>Atg	p.V416M															p.V416M(1)									GGCCTGTGCCGTGGCAGGGGA	0.701																																						ENST00000307745.7																			1	Substitution - Missense(1)	p.V416M(1)	prostate(1)								c.(1246-1248)Gtg>Atg									14.0	18.0	17.0					17																	79409621		1968	4101	6069	SO:0001583	missense	0							g.chr17:79409621G>A																												ENST00000307745.7:c.1246G>A	17.37:g.79409621G>A	ENSP00000303486:p.Val416Met						p.V416M							9	1246	+									Missense_Mutation	SNP	ENST00000307745.7	37	c.1246G>A		.	.	.	.	.	.	.	.	.	.	g	4.900	0.167259	0.09339	.	.	ENSG00000171282	ENST00000307745	T	0.15256	2.44	3.15	-0.0726	0.13739	.	.	.	.	.	T	0.11196	0.0273	L	0.27053	0.805	0.20975	N	0.999811	B	0.16802	0.019	B	0.11329	0.006	T	0.29274	-1.0017	9	0.49607	T	0.09	.	7.4244	0.27090	0.3269:0.0:0.6731:0.0	.	416	Q9P281	BAHC1_HUMAN	M	416	ENSP00000303486:V416M	ENSP00000303486:V416M	V	+	1	0	AC110285.1	77024216	0.000000	0.05858	0.571000	0.28486	0.006000	0.05464	0.035000	0.13797	0.051000	0.15978	-0.760000	0.03462	GTG		0.701	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				6	11	0	0	0	0.335167	0	6	11				
LCE1F	353137	broad.mit.edu	37	1	152748963	152748963	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr1:152748963C>T	ENST00000334371.2	+	1	116	c.116C>T	c.(115-117)cCt>cTt	p.P39L		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	39	Pro-rich.				keratinization (GO:0031424)			p.P39L(1)		kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			aagtgccctccTGTCTCTTCC	0.672																																						ENST00000334371.2																			1	Substitution - Missense(1)	p.P39L(1)	prostate(1)	kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(115-117)cCt>cTt		late cornified envelope 1F							57.0	59.0	58.0					1																	152748963		2203	4300	6503	SO:0001583	missense	353137				keratinization			g.chr1:152748963C>T		CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"""Late cornified envelopes"""	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.116C>T	1.37:g.152748963C>T	ENSP00000334187:p.Pro39Leu						p.P39L	NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	116	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		39			Pro-rich.			Missense_Mutation	SNP	ENST00000334371.2	37	c.116C>T	CCDS1023.1	.	.	.	.	.	.	.	.	.	.	C	7.363	0.625284	0.14257	.	.	ENSG00000240386	ENST00000334371	T	0.04083	3.71	4.56	2.59	0.31030	.	.	.	.	.	T	0.03739	0.0106	M	0.81112	2.525	0.33952	D	0.644595	P	0.39250	0.665	B	0.37943	0.261	T	0.13656	-1.0501	9	0.87932	D	0	.	9.5885	0.39532	0.382:0.618:0.0:0.0	.	39	Q5T754	LCE1F_HUMAN	L	39	ENSP00000334187:P39L	ENSP00000334187:P39L	P	+	2	0	LCE1F	151015587	0.816000	0.29132	0.873000	0.34254	0.495000	0.33615	2.133000	0.42093	0.597000	0.29811	-0.321000	0.08615	CCT		0.672	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2	NM_178354		13	84	0	0	0	0.457914	0	13	84				
PSD2	84249	broad.mit.edu	37	5	139201586	139201586	+	Silent	SNP	G	G	A			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr5:139201586G>A	ENST00000274710.3	+	6	1411	c.1206G>A	c.(1204-1206)tcG>tcA	p.S402S		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	402	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.S402S(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGCACTTCGGAAGGTATGG	0.637																																						ENST00000274710.3																			1	Substitution - coding silent(1)	p.S402S(1)	prostate(1)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38						c.(1204-1206)tcG>tcA		pleckstrin and Sec7 domain containing 2							155.0	111.0	126.0					5																	139201586		2203	4300	6503	SO:0001819	synonymous_variant	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139201586G>A	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1206G>A	5.37:g.139201586G>A							p.S402S	NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	1411	+			402			SEC7.		D3DQD3|Q8N3J8	Silent	SNP	ENST00000274710.3	37	c.1206G>A	CCDS4216.1																																																																																				0.637	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		9	82	0	0	0	0.307466	0	9	82				
ZNF181	339318	broad.mit.edu	37	19	35232875	35232875	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr19:35232875C>G	ENST00000492450.1	+	4	1678	c.1589C>G	c.(1588-1590)tCa>tGa	p.S530*	ZNF181_ENST00000392232.3_Nonsense_Mutation_p.S574*|ZNF181_ENST00000459757.2_Nonsense_Mutation_p.S529*			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	530					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S466*(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AGCAAAGGCTCAAATCTTACT	0.388																																						ENST00000392232.3																			1	Substitution - Nonsense(1)	p.S466*(1)	prostate(1)	endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22						c.(1720-1722)tCa>tGa		zinc finger protein 181							62.0	71.0	68.0					19																	35232875		2202	4299	6501	SO:0001587	stop_gained	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35232875C>G	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"""Zinc fingers, C2H2-type"", ""-"""	12971	protein-coding gene	gene with protein product		606741	"""zinc finger protein 181 (HHZ181)"""				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.1589C>G	19.37:g.35232875C>G	ENSP00000420727:p.Ser530*					ZNF181_ENST00000492450.1_Nonsense_Mutation_p.S530*|ZNF181_ENST00000459757.1_Nonsense_Mutation_p.S529*	p.S574*			Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		6	1889	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		530					B7ZKX3|Q49A75	Nonsense_Mutation	SNP	ENST00000492450.1	37	c.1721C>G	CCDS32990.2	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654444	0.88056	.	.	ENSG00000197841	ENST00000392232;ENST00000492450;ENST00000459757	.	.	.	2.4	2.4	0.29515	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	7.2033	0.25893	0.0:0.7204:0.2796:0.0	.	.	.	.	X	574;530;529	.	ENSP00000376065:S574X	S	+	2	0	ZNF181	39924715	0.000000	0.05858	0.998000	0.56505	0.954000	0.61252	-0.110000	0.10824	1.659000	0.50751	0.655000	0.94253	TCA		0.388	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		5	201	0	0	0	0.217242	0	5	201				
CERS3	204219	broad.mit.edu	37	15	101013167	101013167	+	Missense_Mutation	SNP	C	C	A	rs373080717		TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr15:101013167C>A	ENST00000394113.1	-	11	1390	c.700G>T	c.(700-702)Gtg>Ttg	p.V234L	CERS3_ENST00000284382.4_Missense_Mutation_p.V234L|CERS3_ENST00000538112.2_Missense_Mutation_p.V234L|CERS3_ENST00000560944.1_Intron			Q8IU89	CERS3_HUMAN	ceramide synthase 3	234	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.V234L(1)									ACAATCATCACGAGGGTCCCA	0.438																																						ENST00000284382.4																			1	Substitution - Missense(1)	p.V234L(1)	prostate(1)								c.(700-702)Gtg>Ttg		ceramide synthase 3							117.0	101.0	106.0					15																	101013167		2203	4300	6503	SO:0001583	missense	204219					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr15:101013167C>A		CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.700G>T	15.37:g.101013167C>A	ENSP00000377672:p.Val234Leu					CERS3_ENST00000560944.1_Intron|CERS3_ENST00000538112.2_Missense_Mutation_p.V234L|CERS3_ENST00000394113.1_Missense_Mutation_p.V234L	p.V234L	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN			10	1123	-			234			TLC.		Q8NE64|Q8NEN6	Missense_Mutation	SNP	ENST00000394113.1	37	c.700G>T	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313568	0.81358	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	D;D	0.85258	-1.96;-1.96	5.92	5.0	0.66597	TRAM/LAG1/CLN8 homology domain (3);	0.240063	0.42294	D	0.000730	D	0.90800	0.7111	M	0.92507	3.315	0.48511	D	0.999667	P	0.47034	0.889	P	0.47251	0.542	D	0.92636	0.6120	10	0.72032	D	0.01	-9.3785	15.4105	0.74914	0.1406:0.8594:0.0:0.0	.	234	Q8IU89	CERS3_HUMAN	L	234;245;234	ENSP00000284382:V234L;ENSP00000437640:V234L	ENSP00000284382:V234L	V	-	1	0	CERS3	98830690	0.990000	0.36364	0.991000	0.47740	0.928000	0.56348	2.780000	0.47742	1.489000	0.48450	0.655000	0.94253	GTG		0.438	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842		18	149	1	0	1.01871e-10	0.575678	1.14345e-10	18	149				
PHF20	51230	broad.mit.edu	37	20	34458923	34458923	+	Silent	SNP	A	A	G			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr20:34458923A>G	ENST00000374012.3	+	8	1098	c.969A>G	c.(967-969)ttA>ttG	p.L323L	PHF20_ENST00000439301.1_3'UTR|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	323					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L323L(1)		breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					ACAAAGACTTATCGAGGAGAC	0.423																																						ENST00000374012.3																			1	Substitution - coding silent(1)	p.L323L(1)	prostate(1)	breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(967-969)ttA>ttG		PHD finger protein 20							123.0	113.0	116.0					20																	34458923		2203	4300	6503	SO:0001819	synonymous_variant	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34458923A>G	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.969A>G	20.37:g.34458923A>G						PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_3'UTR	p.L323L			Q9BVI0	PHF20_HUMAN			8	1098	+	Breast(12;0.00631)|all_lung(11;0.0145)		323					A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Silent	SNP	ENST00000374012.3	37	c.969A>G	CCDS13268.1																																																																																				0.423	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		7	149	0	0	0	0.248553	0	7	149				
MT-ND5	4540	broad.mit.edu	37	M	13680	13680	+	Silent	SNP	C	C	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chrM:13680C>T	ENST00000361567.2	+	1	1344	c.1344C>T	c.(1342-1344)ccC>ccT	p.P448P	MT-TP_ENST00000387461.2_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	448					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						GAAAATAACCCCACCCTACTA	0.488																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(1342-1344)ccC>ccT		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001819	synonymous_variant	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:13680C>T			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1344C>T	M.37:g.13680C>T							p.P448P			P03915	NU5M_HUMAN			1	1344	+			448					Q34773|Q8WCY3	Silent	SNP	ENST00000361567.2	37	c.1344C>T																																																																																					0.488	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		5	6	0	0	0	0.184627	0	5	6				
AFF3	3899	broad.mit.edu	37	2	100199303	100199303	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr2:100199303G>C	ENST00000409236.2	-	15	2862	c.2750C>G	c.(2749-2751)cCt>cGt	p.P917R	AFF3_ENST00000317233.4_Missense_Mutation_p.P917R|AFF3_ENST00000409579.1_Missense_Mutation_p.P942R|AFF3_ENST00000356421.2_Missense_Mutation_p.P942R			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	917					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.P942R(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GTCGGCCTTAGGCTTTTTGCT	0.478																																						ENST00000317233.4																			1	Substitution - Missense(1)	p.P942R(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(2749-2751)cCt>cGt		AF4/FMR2 family, member 3							143.0	130.0	135.0					2																	100199303		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100199303G>C	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2750C>G	2.37:g.100199303G>C	ENSP00000387207:p.Pro917Arg					AFF3_ENST00000409579.1_Missense_Mutation_p.P942R|AFF3_ENST00000356421.2_Missense_Mutation_p.P942R|AFF3_ENST00000409236.1_Missense_Mutation_p.P917R	p.P917R	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			16	2985	-			917					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.2750C>G	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	8.400	0.841763	0.16963	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.93	-0.526	0.11913	.	0.854108	0.10212	N	0.702044	T	0.34483	0.0899	N	0.05306	-0.075	0.33780	D	0.624137	B;B	0.06786	0.0;0.001	B;B	0.09377	0.004;0.001	T	0.34551	-0.9824	10	0.20046	T	0.44	.	6.9318	0.24445	0.0949:0.0731:0.5962:0.2358	.	917;942	P51826;P51826-2	AFF3_HUMAN;.	R	917;942;942;917	ENSP00000317421:P917R;ENSP00000348793:P942R;ENSP00000386834:P942R;ENSP00000387207:P917R	ENSP00000317421:P917R	P	-	2	0	AFF3	99565735	0.465000	0.25815	0.783000	0.31826	0.613000	0.37349	0.447000	0.21710	-0.031000	0.13781	-0.262000	0.10625	CCT		0.478	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		8	158	0	0	0	0.278610	0	8	158				
SYNE1	23345	broad.mit.edu	37	6	152639275	152639275	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr6:152639275T>C	ENST00000367255.5	-	86	17114	c.16513A>G	c.(16513-16515)Act>Gct	p.T5505A	SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Missense_Mutation_p.T5505A|SYNE1_ENST00000423061.1_Missense_Mutation_p.T5434A|SYNE1_ENST00000448038.1_Missense_Mutation_p.T5434A|SYNE1_ENST00000356820.4_Missense_Mutation_p.T29A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5505					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.T5505A(3)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGAAGTTCAGTCAGTTTTCCT	0.448										HNSCC(10;0.0054)																												ENST00000367255.5																			3	Substitution - Missense(3)	p.T5505A(3)	prostate(3)	NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(16513-16515)Act>Gct		spectrin repeat containing, nuclear envelope 1							265.0	232.0	243.0					6																	152639275		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152639275T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.16513A>G	6.37:g.152639275T>C	ENSP00000356224:p.Thr5505Ala	HNSCC(10;0.0054)				SYNE1_ENST00000356820.4_Missense_Mutation_p.T29A|SYNE1_ENST00000423061.1_Missense_Mutation_p.T5434A|SYNE1_ENST00000448038.1_Missense_Mutation_p.T5434A|SYNE1_ENST00000265368.4_Missense_Mutation_p.T5505A|SYNE1_ENST00000341594.5_Intron	p.T5505A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	86	17114	-		Ovarian(120;0.0955)	5505					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.16513A>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	5.105	0.204982	0.09704	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000356820	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	5.66	3.2	0.36748	.	0.404547	0.23718	N	0.045247	T	0.15912	0.0383	M	0.63843	1.955	0.32364	N	0.556774	B;B;B;B	0.15473	0.013;0.002;0.002;0.003	B;B;B;B	0.19391	0.025;0.004;0.004;0.015	T	0.07693	-1.0759	10	0.32370	T	0.25	.	7.865	0.29533	0.1233:0.0674:0.0:0.8093	.	5505;5505;5505;5434	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	A	5505;5434;5505;5434;29	ENSP00000356224:T5505A;ENSP00000396024:T5434A;ENSP00000265368:T5505A;ENSP00000390975:T5434A;ENSP00000349276:T29A	ENSP00000265368:T5505A	T	-	1	0	SYNE1	152680968	0.942000	0.31987	0.706000	0.30403	0.164000	0.22412	0.642000	0.24735	0.397000	0.25310	0.533000	0.62120	ACT		0.448	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		9	188	0	0	0	0.307466	0	9	188				
MT-ND5	4540	broad.mit.edu	37	M	13326	13326	+	Silent	SNP	T	T	C			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chrM:13326T>C	ENST00000361567.2	+	1	990	c.990T>C	c.(988-990)tgT>tgC	p.C330C	MT-TP_ENST00000387461.2_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	330					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						CTGCACATCTGTACCCACGCC	0.423																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(988-990)tgT>tgC		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001819	synonymous_variant	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:13326T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.990T>C	M.37:g.13326T>C							p.C330C			P03915	NU5M_HUMAN			1	990	+			330					Q34773|Q8WCY3	Silent	SNP	ENST00000361567.2	37	c.990T>C																																																																																					0.423	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		2	8	0	0	0	0.115264	0	2	8				
SRRM1	10250	broad.mit.edu	37	1	24998071	24998071	+	Silent	SNP	G	G	A	rs369107445		TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr1:24998071G>A	ENST00000323848.9	+	16	2910	c.2595G>A	c.(2593-2595)gcG>gcA	p.A865A	SRRM1_ENST00000447431.2_Silent_p.A877A|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Silent_p.A874A	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	865	Ala-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.A865A(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CAGTGGCAGCGCCAGAGCCGA	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		16547	0.001		0.0	False		,,,				2504	0.0				Ovarian(68;897 1494 3282 17478)	ENST00000323848.9																			1	Substitution - coding silent(1)	p.A865A(1)	prostate(1)	breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36						c.(2593-2595)gcG>gcA		serine/arginine repetitive matrix 1		G		2,4404	2.1+/-5.4	0,2,2201	50.0	51.0	51.0		2595	1.4	0.4	1		51	0,8600		0,0,4300	no	coding-synonymous	SRRM1	NM_005839.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		865/905	24998071	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24998071G>A	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.2595G>A	1.37:g.24998071G>A						SRRM1_ENST00000447431.2_Silent_p.A877A|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Silent_p.A874A	p.A865A	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	16	2910	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	865			Ala-rich.		O60585|Q5VVN4	Silent	SNP	ENST00000323848.9	37	c.2595G>A	CCDS255.1																																																																																				0.483	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		7	60	0	0	0	0.361761	0	7	60				
FASTKD2	22868	broad.mit.edu	37	2	207636634	207636634	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr2:207636634delA	ENST00000236980.6	+	5	1355	c.1007delA	c.(1006-1008)gaafs	p.E336fs	FASTKD2_ENST00000403094.3_Frame_Shift_Del_p.E336fs|FASTKD2_ENST00000402774.3_Frame_Shift_Del_p.E336fs	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	336					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		GCCTTGAGGGAATTAGACAGA	0.318																																						ENST00000236980.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21						c.(1006-1008)gafs		FAST kinase domains 2							80.0	83.0	82.0					2																	207636634		2203	4300	6503	SO:0001589	frameshift_variant	22868				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:207636634delA	BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"""KIAA0971"""	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.1007delA	2.37:g.207636634delA	ENSP00000236980:p.Glu336fs					FASTKD2_ENST00000402774.3_Frame_Shift_Del_p.E336fs|FASTKD2_ENST00000403094.3_Frame_Shift_Del_p.E336fs	p.E336fs	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)	5	1355	+			336					Q9NVX6|Q9Y2H7	Frame_Shift_Del	DEL	ENST00000236980.6	37	c.1007delA	CCDS2371.1																																																																																				0.318	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929		38	164						38	164	---	---	---	---
FRG1	2483	broad.mit.edu	37	4	190873437	190873439	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	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	236						7	236	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113275870	113275870	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr8:113275870delA	ENST00000297405.5	-	61	10104	c.9860delT	c.(9859-9861)ttafs	p.L3287fs	CSMD3_ENST00000352409.3_Frame_Shift_Del_p.L3217fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.L3247fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.L3118fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3287	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATACTTACGTAAGCACTGCGG	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(9859-9861)tafs		CUB and Sushi multiple domains 3							78.0	66.0	70.0					8																	113275870		2203	4300	6503	SO:0001589	frameshift_variant	114788					integral to membrane|plasma membrane		g.chr8:113275870delA	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9860delT	8.37:g.113275870delA	ENSP00000297405:p.Leu3287fs	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Frame_Shift_Del_p.L3118fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.L3217fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.L3247fs	p.L3287fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			61	10104	-			3287			Sushi 25.		Q96PZ3	Frame_Shift_Del	DEL	ENST00000297405.5	37	c.9860delT	CCDS6315.1																																																																																				0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		20	58						20	58	---	---	---	---
MED17	9440	broad.mit.edu	37	11	93529637	93529637	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr11:93529637delT	ENST00000251871.3	+	7	1361	c.1074delT	c.(1072-1074)gctfs	p.A358fs	snoU13_ENST00000459243.1_RNA|MED17_ENST00000533367.1_3'UTR	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	358					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|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)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAAAATTTGCTACTGAGAAGC	0.358																																						ENST00000251871.3																			0				large_intestine(2)|lung(11)|ovary(1)	14						c.(1072-1074)gcfs		mediator complex subunit 17							154.0	152.0	153.0					11																	93529637		2201	4298	6499	SO:0001589	frameshift_variant	9440				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr11:93529637delT	AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"""cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)"", ""cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"""	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.1074delT	11.37:g.93529637delT	ENSP00000251871:p.Ala358fs					MED17_ENST00000533367.1_3'UTR	p.A358fs	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN			7	1361	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	358					B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Frame_Shift_Del	DEL	ENST00000251871.3	37	c.1074delT	CCDS8295.1																																																																																				0.358	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	NM_004268		45	214						45	214	---	---	---	---
CUL5	8065	broad.mit.edu	37	11	107965657	107965658	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr11:107965657_107965658insA	ENST00000393094.2	+	15	2302_2303	c.1686_1687insA	c.(1687-1689)aaafs	p.K563fs		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	563					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		AAGAATTCTACAAAAAAAATCA	0.371																																						ENST00000393094.2																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(1684-1689)taaaaafs		cullin 5																																				SO:0001589	frameshift_variant	8065				cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding	g.chr11:107965657_107965658insA	X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.1694dupA	11.37:g.107965665_107965665dupA	ENSP00000376808:p.Lys563fs						p.*K562fs	NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)	15	2302_2303	+		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	562					A8K960|O14766|Q9BZC6	Frame_Shift_Ins	INS	ENST00000393094.2	37	c.1686_1687insA	CCDS31668.1																																																																																				0.371	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1			9	133						9	133	---	---	---	---
UBE2Q2P2	100134869	broad.mit.edu	37	15	82664400	82664400	+	RNA	DEL	T	T	-	rs200314743	byFrequency	TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr15:82664400delT	ENST00000420908.3	+	0	233					NR_004847.2				ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 2																		AACAAAAATCTTTTTTTTTTT	0.308													|||unknown(NO_COVERAGE)	2821	0.563299	0.4244	0.6081	5008	,	,		9793	0.497		0.6869	False		,,,				2504	0.6605					ENST00000420908.3																			0																																																			0							g.chr15:82664400delT	BC066934		15q25.2	2014-04-10	2009-12-17	2009-12-17	ENSG00000225273	ENSG00000259429			37440	pseudogene	pseudogene			"""ubiquitin-conjugating enzyme E2Q family pseudogene 2"", ""ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 3"""	UBE2QP2, UBE2Q2P3			Standard	NR_004847		Approved		uc002bgz.3		OTTHUMG00000172604		15.37:g.82664400delT								NR_004847.2						0	233	+									RNA	DEL	ENST00000420908.3	37																																																																																						0.308	UBE2Q2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000419405.1	NR_004847		5	5						5	5	---	---	---	---
KRT16P2	400578	broad.mit.edu	37	17	16735760	16735761	+	RNA	INS	-	-	A			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr17:16735760_16735761insA	ENST00000579062.1	-	0	225									keratin 16 pseudogene 2																		agccaccacccaagccagcacc	0.634																																						ENST00000579062.1																			0																																																			0							g.chr17:16735760_16735761insA			17p11.2	2010-02-25			ENSG00000227300	ENSG00000227300			37807	pseudogene	pseudogene							Standard	NR_029392		Approved		uc010vwr.1		OTTHUMG00000059177		17.37:g.16735762_16735762dupA														0	225	-									RNA	INS	ENST00000579062.1	37																																																																																						0.634	KRT16P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444288.2	NR_029392		7	69						7	69	---	---	---	---
NEDD4L	23327	broad.mit.edu	37	18	55992284	55992286	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr18:55992284_55992286delTCC	ENST00000400345.3	+	9	853_855	c.570_572delTCC	c.(568-573)cttcct>ctt	p.P194del	NEDD4L_ENST00000435432.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000382850.4_In_Frame_Del_p.P194del|NEDD4L_ENST00000456986.1_In_Frame_Del_p.P73del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.P186del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.P194del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.P186del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.P194del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.P73del	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	194	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAGAGGAACTTCCTCCTCCTCCT	0.498																																						ENST00000456986.1																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						c.(205-210)ctt>ct		neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	0				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	g.chr18:55992284_55992286delTCC	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.570_572delTCC	18.37:g.55992293_55992295delTCC	ENSP00000383199:p.Pro194del					NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del	p.LP69del	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN			9	807_809	+			190			C2.		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	In_Frame_Del	DEL	ENST00000400345.3	37	c.207_209delTCC	CCDS45872.1																																																																																				0.498	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			8	327						8	327	---	---	---	---
NINL	22981	broad.mit.edu	37	20	25436392	25436392	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr20:25436392delC	ENST00000278886.6	-	23	3947	c.3874delG	c.(3874-3876)gaafs	p.E1293fs	NINL_ENST00000464285.1_5'UTR|NINL_ENST00000422516.1_Frame_Shift_Del_p.E944fs	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1293					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						ACCCGCTCTTCTGTGGCTTTC	0.527																																						ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(3874-3876)aafs		ninein-like							222.0	231.0	228.0					20																	25436392		2203	4300	6503	SO:0001589	frameshift_variant	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25436392delC		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3874delG	20.37:g.25436392delC	ENSP00000278886:p.Glu1293fs					NINL_ENST00000422516.1_Frame_Shift_Del_p.E944fs|NINL_ENST00000464285.1_5'UTR	p.E1293fs	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			23	3947	-			1293					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Frame_Shift_Del	DEL	ENST00000278886.6	37	c.3874delG	CCDS33452.1																																																																																				0.527	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		11	428						11	428	---	---	---	---
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	lincRNA	DEL	A	A	-	rs375245697		TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363																																						ENST00000416563.1																			0																																																			0							g.chr20:26113543delA																													20.37:g.26113543delA														0	250	-									RNA	DEL	ENST00000416563.1	37																																																																																						0.363	RP13-329D4.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000078482.1			2	4						2	4	---	---	---	---
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT	rs372553636		TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1	Q9UEU5	GGE2D_HUMAN	G antigen 2D	9					cellular defense response (GO:0006968)												GAAGATCGACCTATCGGCCTAG	0.465														477	0.126358	0.031	0.098	3775	,	,		26951	0.0972		0.1441	False		,,,				2504	0.1278					ENST00000404720.2																			0											c.(22-27)acatcg>acTATatcg		G antigen 2D				10,505,1500		1,1,3,4,46,330,82,490,187						-1.1	0.0			8	27,1244,2482		1,3,16,6,128,539,446,675,577	no	codingComplex	GAGE2D	NM_001098407.1		2,4,19,10,174,869,528,1165,764	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.8662,25.5583,30.9639				37,1749,3982				SO:0001652	inframe_insertion	729408							g.chrX:49208295_49208296insTAT			Xp11.23	2012-10-02			ENSG00000240257				31959	protein-coding gene	gene with protein product		300735					Standard	NM_001098407		Approved	GAGE8		Q9UEU5	OTTHUMG00000067393	ENST00000404720.2:c.25_27dupTAT	X.37:g.49208296_49208298dupTAT	ENSP00000386110:p.Tyr9dup						p.8_9TS>TIS	NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1					2	96_97	+								A6NG46|A6NNR8|B7ZL76|Q4V325	In_Frame_Ins	INS	ENST00000404720.2	37	c.24_25insTAT	CCDS43941.1																																																																																				0.465	GAGE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144212.1	NM_001098407		8	30						8	30	---	---	---	---
