#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
NETO1	81832	broad.mit.edu	37	18	70461400	70461400	+	Silent	SNP	G	G	A			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr18:70461400G>A	ENST00000327305.6	-	6	1248	c.591C>T	c.(589-591)agC>agT	p.S197S	NETO1_ENST00000583169.1_Silent_p.S197S|NETO1_ENST00000299430.2_Silent_p.S196S	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	197	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.S197S(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CAACAGCCTCGCTAGCAGTAG	0.463																																						ENST00000327305.6																			1	Substitution - coding silent(1)	p.S197S(1)	endometrium(1)	NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(589-591)agC>agT		neuropilin (NRP) and tolloid (TLL)-like 1							187.0	163.0	171.0					18																	70461400		2203	4300	6503	SO:0001819	synonymous_variant	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70461400G>A	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.591C>T	18.37:g.70461400G>A						NETO1_ENST00000299430.2_Silent_p.S196S|NETO1_ENST00000583169.1_Silent_p.S197S	p.S197S	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	6	1248	-		Esophageal squamous(42;0.129)	197			CUB 2.		Q86W85|Q8ND78|Q8TDF4	Silent	SNP	ENST00000327305.6	37	c.591C>T	CCDS12000.1																																																																																				0.463	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		4	64	0	0	0	1	0	4	64				
TMEM30A	55754	broad.mit.edu	37	6	75994253	75994253	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr6:75994253T>G	ENST00000230461.6	-	1	431	c.102A>C	c.(100-102)aaA>aaC	p.K34N	TMEM30A_ENST00000475111.2_Missense_Mutation_p.K34N|RP1-234P15.4_ENST00000607221.1_lincRNA	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	34					drug transmembrane transport (GO:0006855)|phospholipid translocation (GO:0045332)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endosome (GO:0036010)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCCGTTGCTGTTTGAAGGCCG	0.582																																						ENST00000230461.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(100-102)aaA>aaC		transmembrane protein 30A							81.0	76.0	78.0					6																	75994253		2203	4300	6503	SO:0001583	missense	55754					integral to membrane		g.chr6:75994253T>G	AK001718	CCDS4983.1, CCDS47453.1	6q14.1	2014-01-28	2004-06-17	2004-06-18	ENSG00000112697	ENSG00000112697			16667	protein-coding gene	gene with protein product		611028	"""chromosome 6 open reading frame 67"""	C6orf67		15375526	Standard	NM_001143958		Approved	FLJ10856, CDC50A	uc003phw.2	Q9NV96	OTTHUMG00000015050	ENST00000230461.6:c.102A>C	6.37:g.75994253T>G	ENSP00000230461:p.Lys34Asn					TMEM30A_ENST00000475111.2_Missense_Mutation_p.K34N	p.K34N	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN			1	431	-			34					A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Missense_Mutation	SNP	ENST00000230461.6	37	c.102A>C	CCDS4983.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.279289	0.80692	.	.	ENSG00000112697	ENST00000230461;ENST00000545449;ENST00000475111	.	.	.	5.24	1.57	0.23409	.	0.000000	0.85682	D	0.000000	T	0.52533	0.1740	L	0.53671	1.685	0.80722	D	1	D;D	0.63880	0.97;0.993	P;D	0.63703	0.889;0.917	T	0.55179	-0.8181	9	0.62326	D	0.03	-8.7779	6.7514	0.23489	0.0:0.4601:0.0:0.5399	.	34;34	Q9NV96-2;Q9NV96	.;CC50A_HUMAN	N	34;18;34	.	ENSP00000230461:K34N	K	-	3	2	TMEM30A	76050973	0.986000	0.35501	1.000000	0.80357	0.987000	0.75469	0.132000	0.15891	0.328000	0.23435	-0.250000	0.11733	AAA		0.582	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041248.2	NM_018247		14	66	0	0	0	1	0	14	66				
IGLL1	3543	broad.mit.edu	37	22	23917238	23917238	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr22:23917238G>C	ENST00000330377.2	-	2	355	c.238C>G	c.(238-240)Ccc>Gcc	p.P80A	IGLL1_ENST00000249053.3_Intron|AP000345.2_ENST00000458318.1_RNA|AP000345.2_ENST00000454863.1_RNA	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	80					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						CAGCACCTGGGGCCAGTCCAG	0.622																																						ENST00000330377.2																			0				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						c.(238-240)Ccc>Gcc		immunoglobulin lambda-like polypeptide 1							52.0	53.0	52.0					22																	23917238		2203	4300	6503	SO:0001583	missense	3543				immune response	extracellular region|membrane		g.chr22:23917238G>C	X52204	CCDS13809.1, CCDS13810.1	22q11.23	2014-09-17			ENSG00000128322	ENSG00000128322		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	5870	protein-coding gene	gene with protein product		146770		IGLL		3139558, 2511029	Standard	NM_020070		Approved	IGVPB, IGL5, 14.1, CD179B	uc002zxd.3	P15814	OTTHUMG00000150673	ENST00000330377.2:c.238C>G	22.37:g.23917238G>C	ENSP00000329312:p.Pro80Ala					IGLL1_ENST00000249053.3_Intron	p.P80A	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN			2	355	-			80					Q0P681	Missense_Mutation	SNP	ENST00000330377.2	37	c.238C>G	CCDS13809.1	.	.	.	.	.	.	.	.	.	.	-	10.27	1.304787	0.23736	.	.	ENSG00000128322	ENST00000330377;ENST00000438703	T;T	0.01025	6.72;5.43	1.74	0.286	0.15710	.	.	.	.	.	T	0.00875	0.0029	M	0.61703	1.905	0.22001	N	0.999423	P	0.43477	0.808	B	0.33254	0.16	T	0.40175	-0.9577	9	0.10111	T	0.7	.	4.3958	0.11362	0.0:0.0:0.6139:0.3861	.	80	P15814	IGLL1_HUMAN	A	80;81	ENSP00000329312:P80A;ENSP00000403391:P81A	ENSP00000329312:P80A	P	-	1	0	IGLL1	22247238	0.023000	0.18921	0.996000	0.52242	0.016000	0.09150	0.312000	0.19397	0.936000	0.37367	0.152000	0.16155	CCC		0.622	IGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319569.1	NM_020070		4	34	0	0	0	1	0	4	34				
NPC1	4864	broad.mit.edu	37	18	21112187	21112187	+	Silent	SNP	G	G	A	rs375797728		TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr18:21112187G>A	ENST00000269228.5	-	25	4370	c.3816C>T	c.(3814-3816)cgC>cgT	p.R1272R	NPC1_ENST00000412552.2_Silent_p.R954R	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1272					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GAAGCCGTTCGCGCTCTGTTC	0.498																																						ENST00000269228.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38						c.(3814-3816)cgC>cgT		Niemann-Pick disease, type C1							184.0	168.0	174.0					18																	21112187		2203	4300	6503	SO:0001819	synonymous_variant	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21112187G>A	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.3816C>T	18.37:g.21112187G>A						NPC1_ENST00000412552.2_Silent_p.R954R	p.R1272R	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN			25	4370	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		1272					B4DET3|Q9P130	Silent	SNP	ENST00000269228.5	37	c.3816C>T	CCDS11878.1																																																																																				0.498	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		5	97	0	0	0	1	0	5	97				
DGKE	8526	broad.mit.edu	37	17	54940143	54940143	+	Silent	SNP	G	G	A			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr17:54940143G>A	ENST00000284061.3	+	12	1875	c.1695G>A	c.(1693-1695)gcG>gcA	p.A565A		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	565					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					ATATAAAGGCGACTGAATAGA	0.363																																						ENST00000284061.3																			0				breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(1693-1695)gcG>gcA		diacylglycerol kinase, epsilon 64kDa							77.0	71.0	73.0					17																	54940143		2203	4300	6503	SO:0001819	synonymous_variant	8526				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	g.chr17:54940143G>A	U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"""diacylglycerol kinase, epsilon (64kD)"""			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.1695G>A	17.37:g.54940143G>A							p.A565A	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN			12	1875	+	Breast(9;3.59e-07)		565					Q8TBM4|Q9UKQ3	Silent	SNP	ENST00000284061.3	37	c.1695G>A	CCDS11590.1																																																																																				0.363	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647		4	37	0	0	0	1	0	4	37				
POLR2B	5431	broad.mit.edu	37	4	57876598	57876598	+	Silent	SNP	C	C	T			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr4:57876598C>T	ENST00000381227.1	+	12	1889	c.1476C>T	c.(1474-1476)gaC>gaT	p.D492D	POLR2B_ENST00000314595.5_Silent_p.D492D|POLR2B_ENST00000510355.1_3'UTR|POLR2B_ENST00000431623.2_Silent_p.D417D|POLR2B_ENST00000441246.2_Silent_p.D485D			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	492					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TTGGTAGAGACGGCAAGCTAG	0.428																																						ENST00000381227.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(1474-1476)gaC>gaT		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							126.0	130.0	129.0					4																	57876598		2203	4300	6503	SO:0001819	synonymous_variant	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57876598C>T		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1476C>T	4.37:g.57876598C>T						POLR2B_ENST00000431623.2_Silent_p.D417D|POLR2B_ENST00000314595.5_Silent_p.D492D|POLR2B_ENST00000441246.2_Silent_p.D485D|POLR2B_ENST00000510355.1_3'UTR	p.D492D			P30876	RPB2_HUMAN			12	1889	+	Glioma(25;0.08)|all_neural(26;0.181)		492					A8K1A8|Q8IZ61	Silent	SNP	ENST00000381227.1	37	c.1476C>T	CCDS3511.1																																																																																				0.428	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		4	90	0	0	0	1	0	4	90				
CEP41	95681	broad.mit.edu	37	7	130038878	130038878	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr7:130038878G>A	ENST00000223208.5	-	11	1246	c.976C>T	c.(976-978)Cga>Tga	p.R326*	CEP41_ENST00000343969.5_Nonsense_Mutation_p.R254*|CEP41_ENST00000541543.1_Nonsense_Mutation_p.R238*	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	326					cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)											TGGTTCAGTCGGCCTGAAGGG	0.547																																						ENST00000223208.4																			0											c.(976-978)Cga>Tga		centrosomal protein 41kDa							84.0	96.0	92.0					7																	130038878		2203	4300	6503	SO:0001587	stop_gained	95681				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr7:130038878G>A	AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"""testis specific, 14"""	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.976C>T	7.37:g.130038878G>A	ENSP00000223208:p.Arg326*					CEP41_ENST00000541543.1_Nonsense_Mutation_p.R238*|CEP41_ENST00000343969.5_Nonsense_Mutation_p.R254*	p.R326*	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN			11	1246	-			326					A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Nonsense_Mutation	SNP	ENST00000223208.5	37	c.976C>T	CCDS5821.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357803	0.61403	.	.	ENSG00000106477	ENST00000223208;ENST00000541543;ENST00000343969	.	.	.	5.63	4.75	0.60458	.	0.461395	0.22086	N	0.064823	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0418	11.1237	0.48306	0.086:0.0:0.914:0.0	.	.	.	.	X	326;238;254	.	ENSP00000223208:R326X	R	-	1	2	TSGA14	129826114	1.000000	0.71417	0.996000	0.52242	0.347000	0.29111	2.821000	0.48065	1.503000	0.48686	0.655000	0.94253	CGA		0.547	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349702.2	NM_018718		5	76	0	0	0	1	0	5	76				
NRP1	8829	broad.mit.edu	37	10	33474632	33474632	+	Silent	SNP	G	G	A	rs138261778	byFrequency	TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr10:33474632G>A	ENST00000265371.4	-	16	2880	c.2355C>T	c.(2353-2355)atC>atT	p.I785I	NRP1_ENST00000395995.1_Silent_p.I785I|NRP1_ENST00000374875.1_Silent_p.I597I|NRP1_ENST00000374867.2_Silent_p.I785I			O14786	NRP1_HUMAN	neuropilin 1	785	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TTCCTTTTCCGATTTCGCCCT	0.388																																					Melanoma(104;886 1489 44640 45944 51153)	ENST00000265371.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48						c.(2353-2355)atC>atT		neuropilin 1	Palifermin(DB00039)|Pegaptanib(DB04895)	G		0,4406		0,0,2203	114.0	101.0	105.0		2355	0.1	1.0	10	dbSNP_134	105	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous	NRP1	NM_003873.5		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		785/924	33474632	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33474632G>A	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.2355C>T	10.37:g.33474632G>A						NRP1_ENST00000374867.2_Silent_p.I785I|NRP1_ENST00000395995.1_Silent_p.I785I	p.I785I			O14786	NRP1_HUMAN			16	2880	-			785			MAM.		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Silent	SNP	ENST00000265371.4	37	c.2355C>T	CCDS7177.1																																																																																				0.388	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			3	45	0	0	0	1	0	3	45				
HIST1H2AA	221613	broad.mit.edu	37	6	25726459	25726459	+	Silent	SNP	G	G	A	rs367946056		TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr6:25726459G>A	ENST00000297012.3	-	1	331	c.297C>T	c.(295-297)ggC>ggT	p.G99G	HIST1H2BA_ENST00000274764.2_5'Flank	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	99						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TGGTCACGCCGCCCAAAAGCT	0.532													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18409	0.0		0.0	False		,,,				2504	0.0					ENST00000297012.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						c.(295-297)ggC>ggT		histone cluster 1, H2aa		G		1,4405	2.1+/-5.4	0,1,2202	298.0	252.0	268.0		297	-7.3	0.0	6		268	0,8600		0,0,4300	no	coding-synonymous	HIST1H2AA	NM_170745.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		99/132	25726459	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	221613				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:25726459G>A	AY131982	CCDS4562.1	6p22.2	2011-01-27	2006-10-11		ENSG00000164508	ENSG00000164508		"""Histones / Replication-dependent"""	18729	protein-coding gene	gene with protein product		613499	"""H2A histone family, member R"", ""histone 1, H2aa"""			12408966	Standard	NM_170745		Approved	bA317E16.2, H2AFR	uc003nfc.3	Q96QV6	OTTHUMG00000014407	ENST00000297012.3:c.297C>T	6.37:g.25726459G>A							p.G99G	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN			1	331	-			99						Silent	SNP	ENST00000297012.3	37	c.297C>T	CCDS4562.1																																																																																				0.532	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040065.1	NM_170745		4	131	0	0	0	1	0	4	131				
ABCC8	6833	broad.mit.edu	37	11	17415834	17415834	+	Silent	SNP	C	C	T	rs553746345		TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr11:17415834C>T	ENST00000389817.3	-	37	4592	c.4524G>A	c.(4522-4524)acG>acA	p.T1508T	ABCC8_ENST00000302539.4_Silent_p.T1509T			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1508	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CAATGGAAGCCGTGGCCTCGT	0.577													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17914	0.0		0.0	False		,,,				2504	0.0					ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(4525-4527)acG>acA		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						72.0	71.0	71.0					11																	17415834		2200	4293	6493	SO:0001819	synonymous_variant	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17415834C>T	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.4524G>A	11.37:g.17415834C>T						ABCC8_ENST00000389817.3_Silent_p.T1508T	p.T1509T	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	37	4652	-			1508			ABC transporter 2.		A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	37	c.4527G>A	CCDS31437.1																																																																																				0.577	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		4	63	0	0	0	1	0	4	63				
THRA	7067	broad.mit.edu	37	17	38245543	38245543	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr17:38245543G>A	ENST00000264637.4	+	9	1647	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	THRA_ENST00000546243.1_Missense_Mutation_p.R356H|THRA_ENST00000584985.1_Missense_Mutation_p.R356H|THRA_ENST00000450525.2_Missense_Mutation_p.R356H|THRA_ENST00000394121.4_Missense_Mutation_p.R356H	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	356	Ligand-binding.				cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GTCAACCACCGCAAACACAAC	0.597																																						ENST00000450525.2																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(1066-1068)cGc>cAc		thyroid hormone receptor, alpha	Levothyroxine(DB00451)|Liothyronine(DB00279)						257.0	196.0	217.0					17																	38245543		2203	4300	6503	SO:0001583	missense	7067				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38245543G>A	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.1067G>A	17.37:g.38245543G>A	ENSP00000264637:p.Arg356His					THRA_ENST00000546243.1_Missense_Mutation_p.R356H|THRA_ENST00000264637.4_Missense_Mutation_p.R356H|THRA_ENST00000584985.1_Missense_Mutation_p.R356H|THRA_ENST00000394121.4_Missense_Mutation_p.R356H	p.R356H	NM_199334.3	NP_955366.1	P10827	THA_HUMAN			9	1558	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	356			Ligand-binding.		A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	c.1067G>A	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	g	25.5	4.648442	0.87958	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14	4.5	4.5	0.54988	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.96855	0.8973	L	0.56396	1.775	0.80722	D	1	D;D;D	0.65815	0.991;0.971;0.995	P;P;P	0.58620	0.806;0.842;0.659	D	0.96930	0.9680	10	0.52906	T	0.07	.	16.1444	0.81555	0.0:0.0:1.0:0.0	.	356;356;356	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	H	356	ENSP00000377679:R356H;ENSP00000264637:R356H;ENSP00000395641:R356H;ENSP00000443972:R356H	ENSP00000264637:R356H	R	+	2	0	THRA	35499069	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.520000	0.81821	2.319000	0.78375	0.424000	0.28305	CGC		0.597	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			6	162	0	0	0	1	0	6	162				
HSPA12A	259217	broad.mit.edu	37	10	118464682	118464682	+	Silent	SNP	C	C	T	rs199810572		TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr10:118464682C>T	ENST00000369209.3	-	3	338	c.234G>A	c.(232-234)ccG>ccA	p.P78P		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	78						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GGATGCATTCCGGCTCCTTGG	0.582																																						ENST00000369209.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(232-234)ccG>ccA		heat shock 70kDa protein 12A		C		1,4305		0,1,2152	104.0	113.0	110.0		234	-1.4	1.0	10		110	0,8530		0,0,4265	no	coding-synonymous	HSPA12A	NM_025015.2		0,1,6417	TT,TC,CC		0.0,0.0232,0.0078		78/676	118464682	1,12835	2153	4265	6418	SO:0001819	synonymous_variant	259217						ATP binding	g.chr10:118464682C>T	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.234G>A	10.37:g.118464682C>T							p.P78P	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN		all cancers(201;0.0158)	3	338	-			78						Silent	SNP	ENST00000369209.3	37	c.234G>A	CCDS41569.1																																																																																				0.582	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		3	32	0	0	0	1	0	3	32				
GUSBP1	728411	broad.mit.edu	37	5	21491446	21491446	+	RNA	SNP	G	G	T	rs371964320		TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr5:21491446G>T	ENST00000607545.1	+	0	179					NR_027026.1		Q15486	GUSP1_HUMAN	glucuronidase, beta pseudogene 1						carbohydrate metabolic process (GO:0005975)|nervous system development (GO:0007399)|skeletal system development (GO:0001501)		hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)										TGAATTACCAGATCTCCGTCA	0.532																																						ENST00000607545.1																			0																																																			0							g.chr5:21491446G>T	BC064850, X75940		5p14.3	2012-10-04			ENSG00000183666	ENSG00000183666			13670	pseudogene	pseudogene						8565635	Standard	NR_027026		Approved		uc010iub.3	Q15486	OTTHUMG00000162474		5.37:g.21491446G>T								NR_027026.1						0	179	+								A6NLY8|A8K1B7|Q969T8|Q9BUH2	RNA	SNP	ENST00000607545.1	37																																																																																						0.532	GUSBP1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470546.1	NG_008324		3	25	1	0	2.0095e-06	1	2.09687e-06	3	25				
UBA6	55236	broad.mit.edu	37	4	68500187	68500187	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr4:68500187G>A	ENST00000322244.5	-	21	1951	c.1892C>T	c.(1891-1893)cCa>cTa	p.P631L		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	631					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AATAGCAGCTGGAAAGGATTT	0.343																																						ENST00000322244.4																			0				central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						c.(1891-1893)cCa>cTa		ubiquitin-like modifier activating enzyme 6							68.0	76.0	73.0					4																	68500187		2202	4298	6500	SO:0001583	missense	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68500187G>A	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.1892C>T	4.37:g.68500187G>A	ENSP00000313454:p.Pro631Leu						p.P631L	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN			21	1951	-			631					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	c.1892C>T	CCDS3516.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.397570|4.397570	0.83120|0.83120	.|.	.|.	ENSG00000033178|ENSG00000033178	ENST00000322244|ENST00000505673	T|.	0.78246|.	-1.16|.	5.79|5.79	4.93|4.93	0.64822|0.64822	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-activating enzyme (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.86810|.	0.6022|.	H|H	0.94542|0.94542	3.55|3.55	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|.	0.90931|.	0.4790|.	10|.	0.72032|.	D|.	0.01|.	-18.0656|-18.0656	16.7832|16.7832	0.85567|0.85567	0.0:0.1291:0.8709:0.0|0.0:0.1291:0.8709:0.0	.|.	631|.	A0AVT1|.	UBA6_HUMAN|.	L|X	631|165	ENSP00000313454:P631L|.	ENSP00000313454:P631L|.	P|Q	-|-	2|1	0|0	UBA6|UBA6	68182782|68182782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.887000|0.887000	0.51463|0.51463	9.476000|9.476000	0.97823|0.97823	1.431000|1.431000	0.47355|0.47355	0.591000|0.591000	0.81541|0.81541	CCA|CAG		0.343	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		7	62	0	0	0	1	0	7	62				
MITF	4286	broad.mit.edu	37	3	69987117	69987117	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr3:69987117C>T	ENST00000448226.2	+	3	626	c.499C>T	c.(499-501)Cat>Tat	p.H167Y	MITF_ENST00000352241.4_Missense_Mutation_p.H167Y|MITF_ENST00000314589.5_Missense_Mutation_p.H151Y|MITF_ENST00000328528.6_Missense_Mutation_p.H166Y|MITF_ENST00000314557.6_Missense_Mutation_p.H60Y|MITF_ENST00000472437.1_Missense_Mutation_p.H115Y|MITF_ENST00000394348.1_3'UTR|MITF_ENST00000531774.1_Intron|MITF_ENST00000394355.2_Missense_Mutation_p.H142Y|MITF_ENST00000394351.3_Missense_Mutation_p.H60Y			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	167					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		GCCTGGCGATCATGTCATGCC	0.522			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""																														Melanoma(29;269 969 31479 41502 42961)	ENST00000352241.4				Dom	yes		3	3p14.1	4286	A	microphthalmia-associated transcription factor	yes	"""Waardenburg syndrome type 2, Tietz syndrome"""	E			melanoma		0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30						c.(499-501)Cat>Tat		microphthalmia-associated transcription factor							96.0	83.0	87.0					3																	69987117		2203	4300	6503	SO:0001583	missense	4286				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr3:69987117C>T		CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"""Basic helix-loop-helix proteins"""	7105	protein-coding gene	gene with protein product	"""homolog of mouse microphthalmia"""	156845	"""Waardenburg syndrome, type 2A"""	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.499C>T	3.37:g.69987117C>T	ENSP00000391803:p.His167Tyr					MITF_ENST00000314589.5_Missense_Mutation_p.H151Y|MITF_ENST00000314557.6_Missense_Mutation_p.H60Y|MITF_ENST00000531774.1_Intron|MITF_ENST00000448226.2_Missense_Mutation_p.H167Y|MITF_ENST00000472437.1_Missense_Mutation_p.H115Y|MITF_ENST00000394348.1_3'UTR|MITF_ENST00000394351.3_Missense_Mutation_p.H60Y|MITF_ENST00000328528.6_Missense_Mutation_p.H166Y|MITF_ENST00000394355.2_Missense_Mutation_p.H142Y	p.H167Y	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)	3	662	+		Lung NSC(201;0.0384)|Prostate(884;0.0526)	167					B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Missense_Mutation	SNP	ENST00000448226.2	37	c.499C>T		.	.	.	.	.	.	.	.	.	.	C	16.03	3.007721	0.54361	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000472437;ENST00000328528;ENST00000451708;ENST00000314589;ENST00000394355;ENST00000314557;ENST00000394351	T;T;T;T;T;T;T;T;T	0.25749	2.6;2.12;2.37;2.58;1.78;2.58;2.58;2.38;1.8	5.69	5.69	0.88448	.	0.091631	0.85682	D	0.000000	T	0.50820	0.1638	M	0.72118	2.19	0.58432	D	0.999991	D;D;D;D;D;D;D	0.65815	0.979;0.995;0.995;0.995;0.988;0.975;0.995	P;D;D;D;P;P;D	0.63488	0.579;0.915;0.915;0.915;0.759;0.877;0.915	T	0.41680	-0.9495	9	.	.	.	.	19.8068	0.96534	0.0:1.0:0.0:0.0	.	115;60;60;142;151;166;167	E9PFN0;O75030-9;O75030-10;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.;.;.	Y	167;167;115;166;151;151;142;60;60	ENSP00000295600:H167Y;ENSP00000391803:H167Y;ENSP00000418845:H115Y;ENSP00000327867:H166Y;ENSP00000398639:H151Y;ENSP00000324443:H151Y;ENSP00000377884:H142Y;ENSP00000324246:H60Y;ENSP00000377880:H60Y	.	H	+	1	0	MITF	70069807	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.696000	0.84270	2.658000	0.90341	0.655000	0.94253	CAT		0.522	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159		6	25	0	0	0	1	0	6	25				
CPSF4	10898	broad.mit.edu	37	7	99051618	99051618	+	Silent	SNP	G	G	A	rs186458191		TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr7:99051618G>A	ENST00000292476.5	+	7	610	c.600G>A	c.(598-600)tcG>tcA	p.S200S	CPSF4_ENST00000451876.1_Intron|ATP5J2_ENST00000466753.1_Intron|ATP5J2-PTCD1_ENST00000437572.1_Intron|CPSF4_ENST00000471455.1_3'UTR|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000436336.2_Intron|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000441580.1_Intron			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	200					modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S200S(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TACAAAGGTCGTCCTCCTTGA	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		20816	0.0		0.001	False		,,,				2504	0.0					ENST00000292476.5																			1	Substitution - coding silent(1)	p.S200S(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14						c.(598-600)tcG>tcA		cleavage and polyadenylation specific factor 4, 30kDa							230.0	240.0	237.0					7																	99051618		2203	4300	6503	SO:0001819	synonymous_variant	10898				modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding	g.chr7:99051618G>A		CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"""cleavage and polyadenylation specific factor 4, 30kD subunit"""			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	ENST00000292476.5:c.600G>A	7.37:g.99051618G>A						CPSF4_ENST00000436336.2_Intron|CPSF4_ENST00000451876.1_Intron|CPSF4_ENST00000471455.1_3'UTR|PTCD1_ENST00000555673.1_Intron|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000441580.1_Intron|ATP5J2_ENST00000466753.1_Intron	p.S200S			O95639	CPSF4_HUMAN			7	610	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		200					D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Silent	SNP	ENST00000292476.5	37	c.600G>A	CCDS5664.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	8.599	0.886498	0.17540	.	.	ENSG00000160917	ENST00000440514	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	T	0.57562	0.2062	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56523	-0.7965	4	.	.	.	-7.1225	6.9773	0.24683	0.14:0.0:0.7129:0.1471	.	.	.	.	I	82	.	.	V	+	1	0	CPSF4	98889554	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.218000	0.32467	2.686000	0.91538	0.655000	0.94253	GTC		0.512	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336254.1			8	213	0	0	0	1	0	8	213				
TRPV6	55503	broad.mit.edu	37	7	142569697	142569697	+	Silent	SNP	G	G	A	rs368789088		TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr7:142569697G>A	ENST00000359396.3	-	15	2186	c.1941C>T	c.(1939-1941)taC>taT	p.Y647Y		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	647					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AGGCCTGTGCGTAGCGTTGGA	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		17996	0.0		0.0	False		,,,				2504	0.001					ENST00000359396.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(1939-1941)taC>taT		transient receptor potential cation channel, subfamily V, member 6		G		0,4406		0,0,2203	121.0	114.0	116.0		1941	-6.8	0.4	7		116	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRPV6	NM_018646.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		647/726	142569697	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142569697G>A	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1941C>T	7.37:g.142569697G>A							p.Y647Y	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN			15	2186	-	Melanoma(164;0.059)		647					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Silent	SNP	ENST00000359396.3	37	c.1941C>T	CCDS5874.1																																																																																				0.567	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		4	71	0	0	0	1	0	4	71				
COL5A1	1289	broad.mit.edu	37	9	137688229	137688229	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr9:137688229G>A	ENST00000371817.3	+	35	3223	c.2809G>A	c.(2809-2811)Gga>Aga	p.G937R		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	937	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGGCAACTCCGGAGGTGACGG	0.567																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(2809-2811)Gga>Aga		collagen, type V, alpha 1							84.0	88.0	87.0					9																	137688229		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137688229G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2809G>A	9.37:g.137688229G>A	ENSP00000360882:p.Gly937Arg						p.G937R	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	35	3223	+		Myeloproliferative disorder(178;0.0341)	937			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.2809G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135780	0.56828	.	.	ENSG00000130635	ENST00000371817	T	0.56103	0.48	4.51	4.51	0.55191	.	0.000000	0.85682	U	0.000000	D	0.82967	0.5152	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90327	0.4349	10	0.87932	D	0	.	17.1987	0.86900	0.0:0.0:1.0:0.0	.	937	P20908	CO5A1_HUMAN	R	937	ENSP00000360882:G937R	ENSP00000360882:G937R	G	+	1	0	COL5A1	136828050	1.000000	0.71417	0.948000	0.38648	0.088000	0.18126	8.503000	0.90509	2.048000	0.60808	0.297000	0.19635	GGA		0.567	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		4	74	0	0	0	1	0	4	74				
SYNRG	11276	broad.mit.edu	37	17	35902595	35902595	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr17:35902595T>C	ENST00000339208.6	-	15	2821	c.2681A>G	c.(2680-2682)tAt>tGt	p.Y894C	SYNRG_ENST00000346661.4_Missense_Mutation_p.Y894C|SYNRG_ENST00000345615.4_Missense_Mutation_p.Y816C|SYNRG_ENST00000585472.1_Missense_Mutation_p.Y815C|SYNRG_ENST00000394378.2_Missense_Mutation_p.Y816C|SYNRG_ENST00000502449.2_Intron|SYNRG_ENST00000591288.1_Intron	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	894					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGACCAGTCATAGCTTGTAAG	0.443																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2680-2682)tAt>tGt		synergin, gamma							73.0	75.0	75.0					17																	35902595		2203	4300	6503	SO:0001583	missense	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35902595T>C	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.2681A>G	17.37:g.35902595T>C	ENSP00000343610:p.Tyr894Cys					SYNRG_ENST00000345615.4_Missense_Mutation_p.Y816C|SYNRG_ENST00000591288.1_Intron|SYNRG_ENST00000394378.2_Missense_Mutation_p.Y816C|SYNRG_ENST00000585472.1_Missense_Mutation_p.Y815C|SYNRG_ENST00000502449.2_Intron|SYNRG_ENST00000346661.4_Missense_Mutation_p.Y894C	p.Y894C	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			15	2821	-			894					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	c.2681A>G	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	T	9.910	1.209375	0.22289	.	.	ENSG00000006114	ENST00000346661;ENST00000345615;ENST00000502449;ENST00000394378	T;T	0.47177	1.42;0.85	5.95	-10.5	0.00291	.	0.700990	0.14713	N	0.302819	T	0.13072	0.0317	N	0.01874	-0.695	0.23361	N	0.997839	B;B;B;B;B	0.13145	0.007;0.007;0.007;0.001;0.001	B;B;B;B;B	0.11329	0.006;0.006;0.006;0.002;0.002	T	0.11494	-1.0585	10	0.38643	T	0.18	3.4872	5.2044	0.15283	0.0682:0.335:0.2662:0.3306	.	816;816;816;894;894	Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;SYNRG_HUMAN	C	894;894;816;816	ENSP00000005279:Y894C;ENSP00000377903:Y816C	ENSP00000315722:Y894C	Y	-	2	0	SYNRG	32976708	0.882000	0.30256	0.416000	0.26546	0.982000	0.71751	0.077000	0.14738	-2.198000	0.00749	-1.139000	0.01908	TAT		0.443	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		6	57	0	0	0	1	0	6	57				
FILIP1L	11259	broad.mit.edu	37	3	99569630	99569630	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr3:99569630G>A	ENST00000354552.3	-	5	1360	c.890C>T	c.(889-891)aCg>aTg	p.T297M	FILIP1L_ENST00000471562.1_Missense_Mutation_p.T57M|FILIP1L_ENST00000383694.2_Missense_Mutation_p.T57M|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000331335.5_Missense_Mutation_p.T297M	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	297						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TGTGGTCTGCGTTTGCAGTTC	0.478																																						ENST00000331335.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(889-891)aCg>aTg		filamin A interacting protein 1-like							294.0	285.0	288.0					3																	99569630		1980	4154	6134	SO:0001583	missense	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99569630G>A		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.890C>T	3.37:g.99569630G>A	ENSP00000346560:p.Thr297Met					FILIP1L_ENST00000487087.1_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.T57M|FILIP1L_ENST00000354552.3_Missense_Mutation_p.T297M|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.T57M	p.T297M	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN			5	1360	-			297					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	c.890C>T	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833531	0.32421	.	.	ENSG00000168386	ENST00000354552;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T	0.23348	2.22;1.91;2.22;1.91;1.91	5.96	2.98	0.34508	.	0.251539	0.27725	N	0.018115	T	0.22936	0.0554	L	0.36672	1.1	0.09310	N	1	D;D	0.56746	0.977;0.961	P;B	0.47206	0.541;0.339	T	0.06789	-1.0807	10	0.66056	D	0.02	-4.681	8.2445	0.31680	0.0635:0.2423:0.5915:0.1027	.	297;297	Q4L180-2;Q4L180	.;FIL1L_HUMAN	M	297;57;297;57;57;57	ENSP00000346560:T297M;ENSP00000419642:T57M;ENSP00000327880:T297M;ENSP00000373192:T57M;ENSP00000419874:T57M	ENSP00000327880:T297M	T	-	2	0	FILIP1L	101052320	0.233000	0.23772	0.953000	0.39169	0.982000	0.71751	2.639000	0.46570	1.419000	0.47118	0.655000	0.94253	ACG		0.478	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		8	169	0	0	0	1	0	8	169				
PLB1	151056	broad.mit.edu	37	2	28752222	28752222	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr2:28752222C>A	ENST00000327757.5	+	7	408	c.364C>A	c.(364-366)Cca>Aca	p.P122T	PLB1_ENST00000422425.2_Missense_Mutation_p.P122T	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	122	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TCCTTCTGTTCCAATGCCTGT	0.488																																						ENST00000422425.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69						c.(364-366)Cca>Aca		phospholipase B1							216.0	190.0	199.0					2																	28752222		2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28752222C>A		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.364C>A	2.37:g.28752222C>A	ENSP00000330442:p.Pro122Thr					PLB1_ENST00000327757.5_Missense_Mutation_p.P122T	p.P122T	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN			7	408	+	Acute lymphoblastic leukemia(172;0.155)		122			4 X 308-326 AA approximate repeats.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.364C>A	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.833|6.833	0.522837|0.522837	0.13066|0.13066	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000404858|ENST00000416713;ENST00000327757;ENST00000422425	.|T;T;T	.|0.19938	.|2.11;2.83;2.82	5.8|5.8	2.59|2.59	0.31030|0.31030	.|.	.|0.313524	.|0.26612	.|N	.|0.023416	T|T	0.07728|0.07728	0.0194|0.0194	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	0.999992|0.999992	.|B;B	.|0.18461	.|0.028;0.02	.|B;B	.|0.21360	.|0.034;0.009	T|T	0.35051|0.35051	-0.9804|-0.9804	5|10	.|0.19147	.|T	.|0.46	-4.2781|-4.2781	6.4898|6.4898	0.22109|0.22109	0.0:0.6635:0.1545:0.1821|0.0:0.6635:0.1545:0.1821	.|.	.|122;122	.|Q6P1J6-3;Q6P1J6	.|.;PLB1_HUMAN	L|T	120|66;122;122	.|ENSP00000407076:P66T;ENSP00000330442:P122T;ENSP00000416440:P122T	.|ENSP00000330442:P122T	F|P	+|+	3|1	2|0	PLB1|PLB1	28605726|28605726	0.360000|0.360000	0.24964|0.24964	0.073000|0.073000	0.20177|0.20177	0.004000|0.004000	0.04260|0.04260	0.752000|0.752000	0.26362|0.26362	0.797000|0.797000	0.33971|0.33971	-0.137000|-0.137000	0.14449|0.14449	TTC|CCA		0.488	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			5	38	1	0	0.0293803	1	0.0293803	5	38				
RNF138	51444	broad.mit.edu	37	18	29706716	29706716	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr18:29706716G>A	ENST00000261593.3	+	7	1080	c.622G>A	c.(622-624)Gtt>Att	p.V208I	RNF138_ENST00000257190.5_Missense_Mutation_p.V114I|RP11-53I6.4_ENST00000583138.1_RNA	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN	ring finger protein 138, E3 ubiquitin protein ligase	208					protein ubiquitination (GO:0016567)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	ligase activity (GO:0016874)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						CAGAAATTTCGTTAGTCATCT	0.289																																						ENST00000261593.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						c.(622-624)Gtt>Att		ring finger protein 138, E3 ubiquitin protein ligase							74.0	74.0	74.0					18																	29706716		2203	4296	6499	SO:0001583	missense	51444				Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding	g.chr18:29706716G>A	AF162680	CCDS11903.1, CCDS11904.1	18q12.1	2013-01-28	2012-02-23		ENSG00000134758	ENSG00000134758		"""RING-type (C3HC4) zinc fingers"""	17765	protein-coding gene	gene with protein product	"""nemo-like kinase associated ring finger protein"""		"""ring finger protein 138"""			22155992, 16714285	Standard	NM_016271		Approved	STRIN, NARF	uc021uip.2	Q8WVD3	OTTHUMG00000132265	ENST00000261593.3:c.622G>A	18.37:g.29706716G>A	ENSP00000261593:p.Val208Ile					RNF138_ENST00000257190.5_Missense_Mutation_p.V114I	p.V208I	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN			7	1080	+			208					B2RE17|Q9H8K2|Q9UF87|Q9UKI6	Missense_Mutation	SNP	ENST00000261593.3	37	c.622G>A	CCDS11903.1	.	.	.	.	.	.	.	.	.	.	G	5.224	0.226783	0.09916	.	.	ENSG00000134758	ENST00000261593;ENST00000257190	D	0.87334	-2.24	4.98	4.98	0.66077	.	0.084455	0.50627	D	0.000119	T	0.70842	0.3270	N	0.19112	0.55	0.80722	D	1	P;P	0.45428	0.858;0.778	B;B	0.33846	0.171;0.074	T	0.74203	-0.3741	10	0.05833	T	0.94	-0.1167	12.0644	0.53580	0.0789:0.0:0.921:0.0	.	114;208	Q8WVD3-2;Q8WVD3	.;RN138_HUMAN	I	208;114	ENSP00000261593:V208I	ENSP00000257190:V114I	V	+	1	0	RNF138	27960714	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	3.588000	0.53964	2.473000	0.83533	0.561000	0.74099	GTT		0.289	RNF138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255352.2	NM_016271		6	97	0	0	0	1	0	6	97				
EMD	2010	broad.mit.edu	37	X	153609503	153609503	+	Silent	SNP	C	C	T			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chrX:153609503C>T	ENST00000369842.4	+	6	999	c.711C>T	c.(709-711)atC>atT	p.I237I	EMD_ENST00000369835.3_Silent_p.I202I|EMD_ENST00000492448.1_3'UTR	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	237					cellular response to growth factor stimulus (GO:0071363)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fibroblast proliferation (GO:0048147)|positive regulation of protein export from nucleus (GO:0046827)|regulation of canonical Wnt signaling pathway (GO:0060828)|skeletal muscle cell differentiation (GO:0035914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	actin binding (GO:0003779)|beta-tubulin binding (GO:0048487)			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCTTTGTGATCGTCCTCTTCT	0.592																																						ENST00000369842.4																			0				lung(5)	5						c.(709-711)atC>atT		emerin							62.0	55.0	57.0					X																	153609503		2202	4300	6502	SO:0001819	synonymous_variant	2010				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding	g.chrX:153609503C>T	X82434	CCDS14745.1	Xq27.3-q28	2014-09-17	2008-07-29		ENSG00000102119	ENSG00000102119			3331	protein-coding gene	gene with protein product	"""LEM domain containing 5"""	300384	"""Emery-Dreifuss muscular dystrophy"""				Standard	NM_000117		Approved	STA, LEMD5	uc004fkl.3	P50402	OTTHUMG00000033186	ENST00000369842.4:c.711C>T	X.37:g.153609503C>T						EMD_ENST00000492448.1_3'UTR|EMD_ENST00000369835.3_Silent_p.I202I	p.I237I	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN			6	999	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		237					Q6FI02	Silent	SNP	ENST00000369842.4	37	c.711C>T	CCDS14745.1																																																																																				0.592	EMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080921.1			5	12	0	0	0	1	0	5	12				
TTN	7273	broad.mit.edu	37	2	179568878	179568878	+	Silent	SNP	G	G	A	rs369709449		TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr2:179568878G>A	ENST00000591111.1	-	104	29492	c.29268C>T	c.(29266-29268)atC>atT	p.I9756I	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.I10073I|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.I8829I|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13834					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACGCACCTTCGATTCTGAGTT	0.468																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(30217-30219)atC>atT		titin							230.0	216.0	220.0					2																	179568878		1961	4151	6112	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179568878G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.29268C>T	2.37:g.179568878G>A						TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.I8829I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.I9756I|TTN-AS1_ENST00000431752.1_RNA	p.I10073I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		106	30443	-			9756			Glu-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.30219C>T																																																																																					0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	122	0	0	0	1	0	4	122				
CA2	760	broad.mit.edu	37	8	86389399	86389399	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr8:86389399A>T	ENST00000285379.5	+	6	788	c.558A>T	c.(556-558)gaA>gaT	p.E186D		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	186					angiotensin-activated signaling pathway (GO:0038166)|bicarbonate transport (GO:0015701)|kidney development (GO:0001822)|morphogenesis of an epithelium (GO:0002009)|odontogenesis of dentin-containing tooth (GO:0042475)|one-carbon metabolic process (GO:0006730)|positive regulation of bone resorption (GO:0045780)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of dipeptide transmembrane transport (GO:2001150)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of anion transport (GO:0044070)|regulation of chloride transport (GO:2001225)|regulation of intracellular pH (GO:0051453)|response to estrogen (GO:0043627)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Furosemide(DB00695)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	TCCTTCCTGAATCCTTGGATT	0.517																																						ENST00000285379.5																			0				central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11						c.(556-558)gaA>gaT		carbonic anhydrase II	Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)						280.0	253.0	262.0					8																	86389399		2203	4300	6503	SO:0001583	missense	760				one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding	g.chr8:86389399A>T	J03037	CCDS6239.1	8q21.2	2012-10-02			ENSG00000104267	ENSG00000104267	4.2.1.1	"""Carbonic anhydrases"""	1373	protein-coding gene	gene with protein product		611492				3107918	Standard	NM_000067		Approved	Car2, CA-II, CAII	uc003ydk.2	P00918	OTTHUMG00000164944	ENST00000285379.5:c.558A>T	8.37:g.86389399A>T	ENSP00000285379:p.Glu186Asp						p.E186D	NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN			6	788	+			186					B2R7G8|Q6FI12|Q96ET9	Missense_Mutation	SNP	ENST00000285379.5	37	c.558A>T	CCDS6239.1	.	.	.	.	.	.	.	.	.	.	A	13.24	2.177221	0.38413	.	.	ENSG00000104267	ENST00000285379	D	0.83914	-1.78	5.54	-5.94	0.02247	Carbonic anhydrase, alpha-class, catalytic domain (4);	1.187640	0.05514	N	0.560855	T	0.60753	0.2293	N	0.16166	0.38	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49082	-0.8976	10	0.12430	T	0.62	-9.4	3.2829	0.06921	0.2618:0.396:0.2438:0.0985	.	186	P00918	CAH2_HUMAN	D	186	ENSP00000285379:E186D	ENSP00000285379:E186D	E	+	3	2	CA2	86576651	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-1.238000	0.02919	-0.279000	0.09167	0.454000	0.30748	GAA		0.517	CA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381097.2	NM_000067		6	127	0	0	0	1	0	6	127				
ZNF407	55628	broad.mit.edu	37	18	72589312	72589312	+	Silent	SNP	G	G	A			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr18:72589312G>A	ENST00000299687.5	+	4	5037	c.5037G>A	c.(5035-5037)acG>acA	p.T1679T	ZNF407_ENST00000577538.1_Silent_p.T1679T|ZNF407_ENST00000584235.1_3'UTR	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1679					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ACTACAGGACGCACACAGGTG	0.537																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(5035-5037)acG>acA		zinc finger protein 407							85.0	87.0	86.0					18																	72589312		1952	4145	6097	SO:0001819	synonymous_variant	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72589312G>A	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5037G>A	18.37:g.72589312G>A						ZNF407_ENST00000584235.1_3'UTR|ZNF407_ENST00000577538.1_Silent_p.T1679T	p.T1679T	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	4	5037	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1679					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	c.5037G>A	CCDS45885.1																																																																																				0.537	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		4	46	0	0	0	1	0	4	46				
KAT5	10524	broad.mit.edu	37	11	65482370	65482370	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr11:65482370C>T	ENST00000377046.3	+	9	1191	c.919C>T	c.(919-921)Cgt>Tgt	p.R307C	KAT5_ENST00000530446.1_Missense_Mutation_p.R288C|KAT5_ENST00000534650.1_Missense_Mutation_p.R96C|KAT5_ENST00000341318.4_Missense_Mutation_p.R340C|KAT5_ENST00000352980.4_Missense_Mutation_p.R255C	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	307	MYST-type HAT.				androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						GATTGATGGACGTAAGAACAA	0.507																																						ENST00000341318.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						c.(1018-1020)Cgt>Tgt		K(lysine) acetyltransferase 5							111.0	89.0	96.0					11																	65482370		2201	4297	6498	SO:0001583	missense	10524				androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity	g.chr11:65482370C>T	U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	5275	protein-coding gene	gene with protein product	"""Tat interacting protein, 60kDa"", ""K-acetyltransferase 5"""	601409	"""HIV-1 Tat interactive protein, 60kDa"""	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.919C>T	11.37:g.65482370C>T	ENSP00000366245:p.Arg307Cys					KAT5_ENST00000534650.1_Missense_Mutation_p.R96C|KAT5_ENST00000377046.3_Missense_Mutation_p.R307C|KAT5_ENST00000352980.4_Missense_Mutation_p.R255C|KAT5_ENST00000530446.1_Missense_Mutation_p.R288C	p.R340C	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN			8	1252	+			307					B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Missense_Mutation	SNP	ENST00000377046.3	37	c.1018C>T	CCDS31610.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076045	0.76415	.	.	ENSG00000172977	ENST00000377046;ENST00000352980;ENST00000341318;ENST00000530446;ENST00000534650	T;T;T;T	0.50001	0.78;0.78;0.76;0.77	5.0	5.0	0.66597	Acyl-CoA N-acyltransferase (2);MOZ/SAS-like protein (1);	0.000000	0.85682	D	0.000000	T	0.77184	0.4093	H	0.95004	3.61	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.83910	0.0295	10	0.87932	D	0	-12.9844	15.8333	0.78778	0.0:1.0:0.0:0.0	.	288;340;255;307	B4E3C7;Q92993-3;Q92993-2;Q92993	.;.;.;KAT5_HUMAN	C	307;255;340;288;96	ENSP00000366245:R307C;ENSP00000344955:R255C;ENSP00000340330:R340C;ENSP00000434765:R288C	ENSP00000340330:R340C	R	+	1	0	KAT5	65238946	0.988000	0.35896	0.925000	0.36789	0.907000	0.53573	2.874000	0.48483	2.579000	0.87056	0.561000	0.74099	CGT		0.507	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390866.2	NM_006388		4	37	0	0	0	1	0	4	37				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																0							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			3	42	0	0	0	1	0	3	42				
ATP13A1	57130	broad.mit.edu	37	19	19766138	19766138	+	Silent	SNP	G	G	A	rs530016450		TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr19:19766138G>A	ENST00000357324.6	-	11	1547	c.1521C>T	c.(1519-1521)gcC>gcT	p.A507A	ATP13A1_ENST00000496082.1_5'UTR|ATP13A1_ENST00000291503.5_Silent_p.A389A	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	507						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GCTTGGCCAGGGCGATGAGGG	0.627																																					Esophageal Squamous(142;920 1789 9047 14684 24777)	ENST00000357324.6																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1519-1521)gcC>gcT		ATPase type 13A1							90.0	78.0	82.0					19																	19766138		2203	4300	6503	SO:0001819	synonymous_variant	57130				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr19:19766138G>A	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"""ATPases / P-type"""	24215	protein-coding gene	gene with protein product	"""cation transporting ATPase"""		"""ATPase type 13A"""	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.1521C>T	19.37:g.19766138G>A						ATP13A1_ENST00000291503.5_Silent_p.A389A|ATP13A1_ENST00000496082.1_5'UTR	p.A507A	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN			11	1547	-			507					B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Silent	SNP	ENST00000357324.6	37	c.1521C>T	CCDS32970.2																																																																																				0.627	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410		3	24	0	0	0	1	0	3	24				
LTN1	26046	broad.mit.edu	37	21	30354640	30354640	+	Silent	SNP	C	C	T	rs529154128		TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr21:30354640C>T	ENST00000361371.5	-	5	706	c.627G>A	c.(625-627)ccG>ccA	p.P209P	LTN1_ENST00000389194.2_Silent_p.P255P|LTN1_ENST00000389195.2_Silent_p.P255P			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	209					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CAACTTACTGCGGGTCACTGA	0.348													C|||	1	0.000199681	0.0	0.0	5008	,	,		18468	0.0		0.0	False		,,,				2504	0.001					ENST00000361371.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(625-627)ccG>ccA		listerin E3 ubiquitin protein ligase 1							86.0	85.0	85.0					21																	30354640		2203	4300	6503	SO:0001819	synonymous_variant	26046						ligase activity|zinc ion binding	g.chr21:30354640C>T	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.627G>A	21.37:g.30354640C>T						LTN1_ENST00000389194.2_Silent_p.P255P|LTN1_ENST00000389195.2_Silent_p.P255P	p.P209P	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN			5	777	-			209					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Silent	SNP	ENST00000361371.5	37	c.627G>A																																																																																					0.348	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		4	38	0	0	0	1	0	4	38				
CUBN	8029	broad.mit.edu	37	10	16870875	16870875	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr10:16870875C>T	ENST00000377833.4	-	66	10758	c.10693G>A	c.(10693-10695)Gtc>Atc	p.V3565I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3565	CUB 27. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TAGTTCTGGACACAGTCTCCT	0.498											OREG0020047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(10693-10695)Gtc>Atc		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						166.0	143.0	151.0					10																	16870875		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16870875C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10693G>A	10.37:g.16870875C>T	ENSP00000367064:p.Val3565Ile		OREG0020047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	713		p.V3565I	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			66	10758	-			3565			CUB 27.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.10693G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	6.488	0.458208	0.12342	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.28255	1.62	5.94	0.284	0.15701	CUB (5);	1.005790	0.08011	N	0.990393	T	0.16811	0.0404	N	0.16130	0.375	0.09310	N	1	B	0.15473	0.013	B	0.17433	0.018	T	0.29671	-1.0004	10	0.36615	T	0.2	.	5.2467	0.15500	0.0:0.4291:0.1479:0.423	.	3565	O60494	CUBN_HUMAN	I	3565;406	ENSP00000367064:V3565I	ENSP00000367064:V3565I	V	-	1	0	CUBN	16910881	0.311000	0.24536	0.011000	0.14972	0.005000	0.04900	1.117000	0.31234	0.126000	0.18424	-0.291000	0.09656	GTC		0.498	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		4	49	0	0	0	1	0	4	49				
PCSK1	5122	broad.mit.edu	37	5	95746638	95746638	+	Missense_Mutation	SNP	C	C	T	rs138879299		TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr5:95746638C>T	ENST00000311106.3	-	8	1172	c.935G>A	c.(934-936)cGt>cAt	p.R312H	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_Intron|PCSK1_ENST00000508626.1_Missense_Mutation_p.R265H	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	312	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ATCTCCCTGACGCCCCCCGTT	0.532																																						ENST00000311106.3																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(934-936)cGt>cAt		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	C	HIS/ARG,HIS/ARG,	1,4405	2.1+/-5.4	0,1,2202	189.0	173.0	179.0		935,794,	5.6	0.6	5	dbSNP_134	179	0,8600		0,0,4300	no	missense,missense,intron	PCSK1	NM_000439.4,NM_001177875.1,NM_001177876.1	29,29,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,	312/754,265/707,	95746638	1,13005	2203	4300	6503	SO:0001583	missense	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95746638C>T		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.935G>A	5.37:g.95746638C>T	ENSP00000308024:p.Arg312His					PCSK1_ENST00000508626.1_Missense_Mutation_p.R265H|PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA	p.R312H	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	8	1172	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	312			Catalytic.		B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	c.935G>A	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020706	0.75275	2.27E-4	0.0	ENSG00000175426	ENST00000311106;ENST00000508626	D;D	0.87809	-2.3;-2.3	5.62	5.62	0.85841	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	T	0.79941	0.4533	L	0.34521	1.04	0.80722	D	1	P	0.41546	0.754	B	0.26969	0.075	T	0.82997	-0.0179	10	0.66056	D	0.02	-12.4163	19.2542	0.93940	0.0:1.0:0.0:0.0	.	312	P29120	NEC1_HUMAN	H	312;265	ENSP00000308024:R312H;ENSP00000421600:R265H	ENSP00000308024:R312H	R	-	2	0	PCSK1	95772394	1.000000	0.71417	0.629000	0.29254	0.905000	0.53344	5.999000	0.70665	2.631000	0.89168	0.650000	0.86243	CGT		0.532	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		4	143	0	0	0	1	0	4	143				
NEB	4703	broad.mit.edu	37	2	152474877	152474877	+	Missense_Mutation	SNP	C	C	T	rs550715282		TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr2:152474877C>T	ENST00000172853.10	-	70	10406	c.10259G>A	c.(10258-10260)cGt>cAt	p.R3420H	NEB_ENST00000427231.2_Missense_Mutation_p.R3663H|NEB_ENST00000603639.1_Missense_Mutation_p.R3663H|NEB_ENST00000409198.1_Missense_Mutation_p.R3420H|NEB_ENST00000397345.3_Missense_Mutation_p.R3663H|NEB_ENST00000604864.1_Missense_Mutation_p.R3663H			P20929	NEBU_HUMAN	nebulin	3420					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGACGCTGACGGTAGATAGT	0.443																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(10987-10989)cGt>cAt		nebulin							171.0	166.0	167.0					2																	152474877		1945	4141	6086	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152474877C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.10259G>A	2.37:g.152474877C>T	ENSP00000172853:p.Arg3420His					NEB_ENST00000172853.10_Missense_Mutation_p.R3420H|NEB_ENST00000409198.1_Missense_Mutation_p.R3420H|NEB_ENST00000603639.1_Missense_Mutation_p.R3663H|NEB_ENST00000427231.2_Missense_Mutation_p.R3663H|NEB_ENST00000604864.1_Missense_Mutation_p.R3663H	p.R3663H	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	74	11190	-			3663					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.10988G>A		.	.	.	.	.	.	.	.	.	.	C	18.59	3.656838	0.67586	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.10763	2.88;2.91;2.84;2.88	5.68	5.68	0.88126	.	0.211738	0.40554	N	0.001066	T	0.35711	0.0941	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.09862	-1.0655	10	0.87932	D	0	.	13.3796	0.60761	0.0:0.9281:0.0:0.0719	.	3420	P20929	NEBU_HUMAN	H	3420;3663;3663;3420	ENSP00000386259:R3420H;ENSP00000380505:R3663H;ENSP00000416578:R3663H;ENSP00000172853:R3420H	ENSP00000172853:R3420H	R	-	2	0	NEB	152183123	1.000000	0.71417	1.000000	0.80357	0.079000	0.17450	5.961000	0.70356	2.835000	0.97688	0.650000	0.86243	CGT		0.443	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		5	112	0	0	0	1	0	5	112				
RPL32P3	132241	broad.mit.edu	37	3	129116038	129116038	+	RNA	SNP	C	C	T			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr3:129116038C>T	ENST00000514355.1	-	0	412				SNORA7B_ENST00000384360.1_RNA					ribosomal protein L32 pseudogene 3											lung(1)	1						GAGGCTTTCCCGCCCAGGGAC	0.567																																						ENST00000514355.1																			0				lung(1)	1															146.0	143.0	144.0					3																	129116038		876	1991	2867			0							g.chr3:129116038C>T	AK096589, AL117606		3q21.3	2014-03-20			ENSG00000251474	ENSG00000251474			27024	pseudogene	pseudogene						12477932	Standard	NR_003111		Approved		uc003ema.4		OTTHUMG00000159465		3.37:g.129116038C>T														0	412	-									RNA	SNP	ENST00000514355.1	37																																																																																						0.567	RPL32P3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000355880.1			4	78	0	0	0	1	0	4	78				
PCDHB6	56130	broad.mit.edu	37	5	140531962	140531962	+	Silent	SNP	G	G	A	rs375622168		TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr5:140531962G>A	ENST00000231136.1	+	1	2124	c.2124G>A	c.(2122-2124)gcG>gcA	p.A708A	PCDHB6_ENST00000543635.1_Silent_p.A572A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	708					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A708A(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTCGTGGCGGTGCGGCTGT	0.682																																						ENST00000231136.1																			1	Substitution - coding silent(1)	p.A708A(1)	lung(1)	cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(2122-2124)gcG>gcA				G		2,4392		0,2,2195	78.0	91.0	87.0		2124	-1.4	0.6	5		87	0,8548		0,0,4274	no	coding-synonymous	PCDHB6	NM_018939.2		0,2,6469	AA,AG,GG		0.0,0.0455,0.0155		708/795	140531962	2,12940	2197	4274	6471	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531962G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.2124G>A	5.37:g.140531962G>A						PCDHB6_ENST00000543635.1_Silent_p.A572A	p.A708A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2124	+			708					B2R8R9	Silent	SNP	ENST00000231136.1	37	c.2124G>A	CCDS4248.1																																																																																				0.682	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		10	153	0	0	0	1	0	10	153				
PKD1L1	168507	broad.mit.edu	37	7	47920349	47920349	+	Missense_Mutation	SNP	G	G	A	rs566918758		TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr7:47920349G>A	ENST00000289672.2	-	21	3547	c.3497C>T	c.(3496-3498)aCg>aTg	p.T1166M		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1166	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CAGGACGTACGTCTCTCCACT	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		19140	0.0		0.0	False		,,,				2504	0.001					ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(3496-3498)aCg>aTg		polycystic kidney disease 1 like 1							215.0	165.0	182.0					7																	47920349		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47920349G>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.3497C>T	7.37:g.47920349G>A	ENSP00000289672:p.Thr1166Met						p.T1166M	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			21	3547	-			1166			REJ.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.3497C>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908560	0.33721	.	.	ENSG00000158683	ENST00000289672	T	0.70516	-0.49	4.43	2.54	0.30619	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.305707	0.23902	N	0.043434	T	0.58552	0.2130	L	0.39633	1.23	0.22591	N	0.998955	P	0.48834	0.916	B	0.43360	0.417	T	0.50800	-0.8785	10	0.39692	T	0.17	-13.9199	6.6628	0.23024	0.2212:0.0:0.7788:0.0	.	1166	Q8TDX9	PK1L1_HUMAN	M	1166	ENSP00000289672:T1166M	ENSP00000289672:T1166M	T	-	2	0	PKD1L1	47886874	0.781000	0.28676	0.520000	0.27837	0.891000	0.51852	0.961000	0.29267	0.982000	0.38575	0.650000	0.86243	ACG		0.468	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		4	34	0	0	0	1	0	4	34				
RALGAPA2	57186	broad.mit.edu	37	20	20592031	20592031	+	Silent	SNP	A	A	G			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr20:20592031A>G	ENST00000202677.7	-	14	1735	c.1728T>C	c.(1726-1728)gcT>gcC	p.A576A		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	576					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TCTGCATGACAGCTTCTGTTA	0.378																																						ENST00000202677.6																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(1726-1728)gcT>gcC		Ral GTPase activating protein, alpha subunit 2 (catalytic)							247.0	235.0	238.0					20																	20592031		1855	4100	5955	SO:0001819	synonymous_variant	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20592031A>G	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.1728T>C	20.37:g.20592031A>G							p.A576A	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN			14	1870	-			576					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Silent	SNP	ENST00000202677.7	37	c.1728T>C	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.275695	0.23307	.	.	ENSG00000188559	ENST00000430436	.	.	.	4.96	2.46	0.29980	.	.	.	.	.	T	0.43500	0.1250	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29912	-0.9996	4	.	.	.	.	1.7933	0.03056	0.5748:0.1386:0.1529:0.1337	.	.	.	.	P	393	.	.	L	-	2	0	RALGAPA2	20540031	0.989000	0.36119	1.000000	0.80357	0.997000	0.91878	0.361000	0.20267	0.681000	0.31386	0.383000	0.25322	CTG		0.378	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		4	140	0	0	0	1	0	4	140				
NTSR2	23620	broad.mit.edu	37	2	11810004	11810006	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr2:11810004_11810006delCAG	ENST00000306928.5	-	1	284_286	c.250_252delCTG	c.(250-252)ctgdel	p.L84del		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	84					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	GCACGCCGACCAGCAGCAGCAGC	0.719																																						ENST00000306928.5																			0				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17						c.(250-252)del		neurotensin receptor 2	Levocabastine(DB01106)			77,3647		3,71,1788						0.2	0.8			7	168,7346		5,158,3594	no	coding	NTSR2	NM_012344.3		8,229,5382	A1A1,A1R,RR		2.2358,2.0677,2.1801				245,10993				SO:0001651	inframe_deletion	23620				sensory perception	integral to plasma membrane		g.chr2:11810004_11810006delCAG	Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"""GPCR / Class A : Neurotensin receptors"""	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.250_252delCTG	2.37:g.11810013_11810015delCAG	ENSP00000303686:p.Leu84del						p.L84del	NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN		Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	1	284_286	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		84					Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	In_Frame_Del	DEL	ENST00000306928.5	37	c.250_252delCTG	CCDS1681.1																																																																																				0.719	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1			4	5						4	5	---	---	---	---
FAM101A	144347	broad.mit.edu	37	12	124762409	124762411	+	IGR	DEL	TCC	TCC	-			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr12:124762409_124762411delTCC								FAM101A (42261 upstream) : FAM101A (11298 downstream)																							cttttcctcttcctcctcctcct	0.586																																						ENST00000540762.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr12:124762409_124762411delTCC																													12.37:g.124762418_124762420delTCC														0	444	+									RNA	DEL		37																																																																																					0	0.586									2	4						2	4	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539|rs62026972	byFrequency	TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.576																																						ENST00000561463.1																			0																																																			0							g.chr15:102293062_102293064delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293062_102293064delCTC														0	1108_1110	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.576	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	5						3	5	---	---	---	---
LOC101927755	101927755	broad.mit.edu	37	17	58066608	58066608	+	lincRNA	DEL	T	T	-	rs200816848		TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr17:58066608delT	ENST00000586209.1	+	0	158																											TTGATTGTGATTTTTTTTTTT	0.313																																						ENST00000586209.1																			0																																																			0							g.chr17:58066608delT																													17.37:g.58066608delT														0	158	+									RNA	DEL	ENST00000586209.1	37																																																																																						0.313	RP11-178C3.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449162.1			4	3						4	3	---	---	---	---
