#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
PGLYRP2	114770	broad.mit.edu	37	19	15582727	15582727	+	Silent	SNP	C	C	T	rs147572500		TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr19:15582727C>T	ENST00000340880.4	-	3	1797	c.1317G>A	c.(1315-1317)acG>acA	p.T439T	PGLYRP2_ENST00000292609.4_Silent_p.T439T	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	439					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CCCAGCCTTGCGTGTCCTGGT	0.672																																						ENST00000292609.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						c.(1315-1317)acG>acA		peptidoglycan recognition protein 2		C		1,4405	2.1+/-5.4	0,1,2202	52.0	45.0	47.0		1317	-10.5	0.0	19	dbSNP_134	47	0,8600		0,0,4300	no	coding-synonymous	PGLYRP2	NM_052890.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		439/577	15582727	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15582727C>T	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.1317G>A	19.37:g.15582727C>T						PGLYRP2_ENST00000340880.4_Silent_p.T439T	p.T439T			Q96PD5	PGRP2_HUMAN			3	1446	-			439					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Silent	SNP	ENST00000340880.4	37	c.1317G>A	CCDS12330.2																																																																																				0.672	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		10	51	0	0	0	1	0	10	51				
ZNF91	7644	broad.mit.edu	37	19	23544385	23544385	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr19:23544385C>G	ENST00000300619.7	-	4	1601	c.1396G>C	c.(1396-1398)Gaa>Caa	p.E466Q	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000397082.2_Missense_Mutation_p.E434Q	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	466					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTGCCACATTCTTTACATTTG	0.378																																						ENST00000300619.7																			0											c.(1396-1398)Gaa>Caa		zinc finger protein 91							60.0	66.0	64.0					19																	23544385		2154	4275	6429	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544385C>G	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1396G>C	19.37:g.23544385C>G	ENSP00000300619:p.Glu466Gln					ZNF91_ENST00000397082.2_Missense_Mutation_p.E434Q|ZNF91_ENST00000599743.1_Intron	p.E466Q	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1601	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	466					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.1396G>C	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.417066	0.01136	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.07444	3.19;3.19	1.5	0.0474	0.14280	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05593	0.0147	N	0.21240	0.645	0.09310	N	1	B;B	0.13594	0.006;0.008	B;B	0.15870	0.005;0.014	T	0.40040	-0.9584	9	0.30854	T	0.27	.	8.0219	0.30415	0.0:0.5773:0.4226:0.0	.	434;466	Q05481-2;Q05481	.;ZNF91_HUMAN	Q	466;434	ENSP00000300619:E466Q;ENSP00000380272:E434Q	ENSP00000300619:E466Q	E	-	1	0	ZNF91	23336225	0.000000	0.05858	0.051000	0.19133	0.046000	0.14306	-1.739000	0.01840	0.787000	0.33731	0.185000	0.17295	GAA		0.378	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		8	66	0	0	0	1	0	8	66				
APEH	327	broad.mit.edu	37	3	49723545	49723545	+	IGR	SNP	G	G	A	rs4052562		TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr3:49723545G>A	ENST00000296456.5	+	0	3220				AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000383728.3_3'UTR|MST1_ENST00000449682.2_Missense_Mutation_p.A366V|MST1_ENST00000494828.2_5'Flank	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCAAAAGGCCGCGCGCATGCC	0.667																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1096-1098)gCg>gTg		macrophage stimulating 1 (hepatocyte growth factor-like)							13.0	16.0	15.0					3																	49723545		2196	4290	6486	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723545G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723545G>A						MST1_ENST00000383728.3_3'UTR	p.A366V	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1458	-			352					Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1097C>T	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	A	6.330	0.429012	0.11987	.	.	ENSG00000173531	ENST00000449682	T	0.61510	0.1	5.4	2.9	0.33743	.	0.872863	0.09498	N	0.793992	T	0.22322	0.0538	N	0.01048	-1.04	0.58432	D	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.34129	-0.9841	10	0.02654	T	1	.	6.4095	0.21682	0.7107:0.0:0.0698:0.2196	rs4052562	366	G3XAK1	.	V	366	ENSP00000414287:A366V	ENSP00000414287:A366V	A	-	2	0	MST1	49698549	1.000000	0.71417	0.233000	0.24025	0.897000	0.52465	4.372000	0.59530	0.016000	0.14998	-0.254000	0.11334	GCG		0.667	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			3	27	0	0	0	1	0	3	27				
TRAV8-6	28680	broad.mit.edu	37	14	22447081	22447081	+	RNA	SNP	A	A	C			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:22447081A>C	ENST00000390443.3	+	0	282									T cell receptor alpha variable 8-6																		ACCAGAGCCCAGTCTGTGACC	0.458											OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000390443.3																			0																				145.0	149.0	148.0					14																	22447081		1944	4130	6074			28680							g.chr14:22447081A>C	X02850		14q11.2	2012-02-07			ENSG00000211795	ENSG00000211795		"""T cell receptors / TRA locus"""	12151	other	T cell receptor gene						8206523, 2993909	Standard	NG_001332		Approved				OTTHUMG00000170641		14.37:g.22447081A>C			OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	756									0	282	+									RNA	SNP	ENST00000390443.3	37																																																																																						0.458	TRAV8-6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409889.1	NG_001332		22	194	0	0	0	1	0	22	194				
ZNF536	9745	broad.mit.edu	37	19	31025841	31025841	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr19:31025841G>A	ENST00000355537.3	+	3	2405	c.2258G>A	c.(2257-2259)tGc>tAc	p.C753Y		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	753					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ATGAAGGACTGCCCGTACTGT	0.597																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(2257-2259)tGc>tAc		zinc finger protein 536							110.0	108.0	109.0					19																	31025841		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31025841G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2258G>A	19.37:g.31025841G>A	ENSP00000347730:p.Cys753Tyr						p.C753Y	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			3	2405	+	Esophageal squamous(110;0.0834)		753					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2258G>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.292698	0.80914	.	.	ENSG00000198597	ENST00000355537	T	0.58358	0.34	5.81	5.81	0.92471	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.093579	0.85682	D	0.000000	T	0.62392	0.2424	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.66586	-0.5886	10	0.87932	D	0	-31.002	20.0912	0.97820	0.0:0.0:1.0:0.0	.	753;753	A7E228;O15090	.;ZN536_HUMAN	Y	753	ENSP00000347730:C753Y	ENSP00000347730:C753Y	C	+	2	0	ZNF536	35717681	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.860000	0.99555	2.746000	0.94184	0.591000	0.81541	TGC		0.597	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		31	143	0	0	0	1	0	31	143				
ATP2B3	492	broad.mit.edu	37	X	152813367	152813367	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chrX:152813367C>T	ENST00000349466.2	+	8	1359	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	ATP2B3_ENST00000370181.2_Missense_Mutation_p.R331W|ATP2B3_ENST00000393842.1_Missense_Mutation_p.R331W|ATP2B3_ENST00000359149.3_Missense_Mutation_p.R345W|ATP2B3_ENST00000263519.4_Missense_Mutation_p.R345W|ATP2B3_ENST00000370186.1_Missense_Mutation_p.R331W			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	345					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GATGGAGGAGCGGGAGAAGAA	0.582																																						ENST00000370186.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(991-993)Cgg>Tgg		ATPase, Ca++ transporting, plasma membrane 3							167.0	126.0	140.0					X																	152813367		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152813367C>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.1033C>T	X.37:g.152813367C>T	ENSP00000343886:p.Arg345Trp					ATP2B3_ENST00000359149.3_Missense_Mutation_p.R345W|ATP2B3_ENST00000393842.1_Missense_Mutation_p.R331W|ATP2B3_ENST00000349466.2_Missense_Mutation_p.R345W|ATP2B3_ENST00000370181.2_Missense_Mutation_p.R331W|ATP2B3_ENST00000263519.4_Missense_Mutation_p.R345W	p.R331W			Q16720	AT2B3_HUMAN			7	1317	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		345					B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.991C>T	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044791	0.75732	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.94138	-3.34;-3.35;-3.34;-3.36;-3.35;-3.34	5.14	5.14	0.70334	ATPase, P-type, ATPase-associated domain (1);	0.212485	0.37761	N	0.001950	D	0.92603	0.7650	N	0.19112	0.55	0.39590	D	0.969574	D;D	0.65815	0.995;0.988	D;P	0.64410	0.925;0.663	D	0.93717	0.7029	10	0.87932	D	0	-6.2086	11.8457	0.52383	0.175:0.825:0.0:0.0	.	345;345	Q16720;Q16720-2	AT2B3_HUMAN;.	W	331;345;331;345;345;331	ENSP00000359205:R331W;ENSP00000343886:R345W;ENSP00000377425:R331W;ENSP00000352062:R345W;ENSP00000263519:R345W;ENSP00000359200:R331W	ENSP00000263519:R345W	R	+	1	2	ATP2B3	152466561	0.948000	0.32251	1.000000	0.80357	0.901000	0.52897	1.814000	0.38972	2.275000	0.75901	0.436000	0.28706	CGG		0.582	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		23	49	0	0	0	1	0	23	49				
TP53	7157	broad.mit.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr17:7577022G>A	ENST00000269305.4	-	8	1105	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R306*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	306	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		147	Substitution - Nonsense(133)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(1)	large_intestine(39)|breast(21)|upper_aerodigestive_tract(15)|ovary(11)|central_nervous_system(10)|oesophagus(10)|stomach(8)|lung(8)|endometrium(6)|bone(4)|pancreas(3)|haematopoietic_and_lymphoid_tissue(3)|biliary_tract(3)|kidney(2)|NS(2)|urinary_tract(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM971506	TP53	M	rs121913344	c.(916-918)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							120.0	106.0	110.0					17																	7577022		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577022G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.916C>T	17.37:g.7577022G>A	ENSP00000269305:p.Arg306*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron	p.R306*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1048	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	306		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.916C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782988	0.90282	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	3.21	0.36854	.	1.348720	0.05032	N	0.474808	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4785	0.44678	0.0:0.0:0.6334:0.3666	.	.	.	.	X	306;306;306;306;306;295;174	.	ENSP00000269305:R306X	R	-	1	2	TP53	7517747	1.000000	0.71417	0.970000	0.41538	0.345000	0.29048	2.280000	0.43443	0.735000	0.32537	0.561000	0.74099	CGA		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		30	66	0	0	0	1	0	30	66				
DRD5	1816	broad.mit.edu	37	4	9783962	9783962	+	Silent	SNP	G	G	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr4:9783962G>T	ENST00000304374.2	+	1	705	c.309G>T	c.(307-309)gtG>gtT	p.V103V		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	103					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.V103V(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TCGCCGAGGTGGCCGGTTACT	0.612																																						ENST00000304374.2																			1	Substitution - coding silent(1)	p.V103V(1)	kidney(1)	NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(307-309)gtG>gtT		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						51.0	49.0	49.0					4																	9783962		2203	4300	6503	SO:0001819	synonymous_variant	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9783962G>T	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.309G>T	4.37:g.9783962G>T							p.V103V	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	705	+			103					B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	c.309G>T	CCDS3405.1																																																																																				0.612	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			5	56	1	0	5.18039e-06	1	5.54077e-06	5	56				
ZFR	51663	broad.mit.edu	37	5	32407029	32407029	+	Silent	SNP	A	A	T	rs139769264		TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr5:32407029A>T	ENST00000265069.8	-	6	984	c.882T>A	c.(880-882)gcT>gcA	p.A294A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	294	Ala-rich.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A294A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		cagcagcagcagctgctgctg	0.483																																						ENST00000265069.8																			1	Substitution - coding silent(1)	p.A294A(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(880-882)gcT>gcA		zinc finger RNA binding protein		A		0,4406		0,0,2203	35.0	36.0	36.0		882	-7.9	1.0	5	dbSNP_134	36	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZFR	NM_016107.3		0,1,6502	TT,TA,AA		0.0116,0.0,0.0077		294/1075	32407029	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32407029A>T	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.882T>A	5.37:g.32407029A>T							p.A294A	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	6	984	-			294			Ala-rich.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Silent	SNP	ENST00000265069.8	37	c.882T>A	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.711849	0.30322	0.0	1.16E-4	ENSG00000056097	ENST00000416900	.	.	.	5.89	-7.9	0.01169	.	.	.	.	.	T	0.27731	0.0682	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33292	-0.9874	5	0.08179	T	0.78	.	8.2119	0.31488	0.2876:0.1859:0.0:0.5266	.	.	.	.	S	175	.	ENSP00000393243:C175S	C	-	1	0	ZFR	32442786	0.089000	0.21612	0.989000	0.46669	0.998000	0.95712	-1.076000	0.03420	-0.596000	0.05821	0.454000	0.30748	TGC		0.483	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			3	34	0	0	0	1	0	3	34				
AHNAK2	113146	broad.mit.edu	37	14	105414628	105414628	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:105414628G>T	ENST00000333244.5	-	7	7279	c.7160C>A	c.(7159-7161)cCa>cAa	p.P2387Q	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2387						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.K2385fs*18(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGGCCCTCTGGGAGTTTCAC	0.637																																						ENST00000333244.5																			1	Deletion - Frameshift(1)	p.K2385fs*18(1)	ovary(1)	cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(7159-7161)cCa>cAa		AHNAK nucleoprotein 2							103.0	116.0	112.0					14																	105414628		1887	4106	5993	SO:0001583	missense	113146					nucleus		g.chr14:105414628G>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7160C>A	14.37:g.105414628G>T	ENSP00000353114:p.Pro2387Gln					AHNAK2_ENST00000557457.1_Intron	p.P2387Q	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	7279	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2387					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.7160C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	14.39	2.522624	0.44866	.	.	ENSG00000185567	ENST00000333244	T	0.03301	3.98	4.0	2.11	0.27256	.	.	.	.	.	T	0.19765	0.0475	M	0.90870	3.155	0.09310	N	1	D	0.58268	0.982	D	0.64506	0.926	T	0.03008	-1.1083	9	0.51188	T	0.08	.	10.5329	0.44988	0.17:0.0:0.83:0.0	.	2387	Q8IVF2	AHNK2_HUMAN	Q	2387	ENSP00000353114:P2387Q	ENSP00000353114:P2387Q	P	-	2	0	AHNAK2	104485673	0.216000	0.23585	0.003000	0.11579	0.001000	0.01503	1.992000	0.40737	0.641000	0.30601	-0.663000	0.03849	CCA		0.637	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		36	292	1	0	8.73648e-17	1	1.00429e-16	36	292				
GRIN3B	116444	broad.mit.edu	37	19	1005239	1005239	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr19:1005239G>C	ENST00000234389.3	+	3	1758	c.1739G>C	c.(1738-1740)gGc>gCc	p.G580A	AC004528.4_ENST00000588380.1_RNA|GRIN3B_ENST00000588335.1_3'UTR	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	580					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACGTGGCTGGGCGTCTTTGCG	0.677																																						ENST00000234389.3																			0				breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(1738-1740)gGc>gCc		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						58.0	54.0	56.0					19																	1005239		2203	4300	6503	SO:0001583	missense	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1005239G>C		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1739G>C	19.37:g.1005239G>C	ENSP00000234389:p.Gly580Ala					GRIN3B_ENST00000588335.1_3'UTR	p.G580A	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1758	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	580					Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	37	c.1739G>C	CCDS32861.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.624798	0.46840	.	.	ENSG00000116032	ENST00000234389	T	0.39997	1.05	4.53	4.53	0.55603	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.57257	0.2041	L	0.46885	1.475	0.53688	D	0.999979	D	0.89917	1.0	D	0.97110	1.0	T	0.56347	-0.7994	10	0.40728	T	0.16	.	15.8728	0.79136	0.0:0.0:1.0:0.0	.	580	O60391	NMD3B_HUMAN	A	580	ENSP00000234389:G580A	ENSP00000234389:G580A	G	+	2	0	GRIN3B	956239	1.000000	0.71417	0.993000	0.49108	0.402000	0.30811	9.675000	0.98638	2.100000	0.63781	0.485000	0.47835	GGC		0.677	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			5	47	0	0	0	1	0	5	47				
ADAMTS3	9508	broad.mit.edu	37	4	73414354	73414354	+	Silent	SNP	C	C	G			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr4:73414354C>G	ENST00000286657.4	-	3	381	c.345G>C	c.(343-345)ctG>ctC	p.L115L	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	115					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCCCAGGCACCAGAGATGTCT	0.463																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(343-345)ctG>ctC		ADAM metallopeptidase with thrombospondin type 1 motif, 3							171.0	168.0	169.0					4																	73414354		2203	4300	6503	SO:0001819	synonymous_variant	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73414354C>G	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.345G>C	4.37:g.73414354C>G						ADAMTS3_ENST00000505193.1_5'UTR	p.L115L	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		3	381	-			115					A1L3U9|Q9BXZ8	Silent	SNP	ENST00000286657.4	37	c.345G>C	CCDS3553.1																																																																																				0.463	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			13	91	0	0	0	1	0	13	91				
SLC18A3	6572	broad.mit.edu	37	10	50819604	50819604	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr10:50819604G>A	ENST00000374115.3	+	1	1258	c.818G>A	c.(817-819)cGg>cAg	p.R273Q	CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000395562.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	273					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCACGGGCTCGGGCCAACCTG	0.662																																						ENST00000374115.3																			0				endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						c.(817-819)cGg>cAg		solute carrier family 18 (vesicular acetylcholine transporter), member 3							33.0	32.0	32.0					10																	50819604		2203	4300	6503	SO:0001583	missense	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50819604G>A	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.818G>A	10.37:g.50819604G>A	ENSP00000363229:p.Arg273Gln					CHAT_ENST00000339797.1_Intron	p.R273Q	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN			1	1258	+			273					B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	c.818G>A	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.674997	0.67928	.	.	ENSG00000187714	ENST00000374115	T	0.57436	0.4	5.42	5.42	0.78866	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.30419	U	0.009678	T	0.46014	0.1371	L	0.43152	1.355	0.52501	D	0.999953	P	0.48407	0.91	B	0.39503	0.301	T	0.37842	-0.9688	10	0.20046	T	0.44	0.1675	19.2158	0.93778	0.0:0.0:1.0:0.0	.	273	Q16572	VACHT_HUMAN	Q	273	ENSP00000363229:R273Q	ENSP00000363229:R273Q	R	+	2	0	SLC18A3	50489610	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.765000	0.98953	2.552000	0.86080	0.561000	0.74099	CGG		0.662	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		14	59	0	0	0	1	0	14	59				
C2orf73	129852	broad.mit.edu	37	2	54558137	54558137	+	Splice_Site	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:54558137C>T	ENST00000398634.2	+	1	67	c.25C>T	c.(25-27)Caa>Taa	p.Q9*	C2orf73_ENST00000491538.1_3'UTR|C2orf73_ENST00000405749.1_Splice_Site_p.Q9*	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	9										breast(2)	2						AGATAAGCATCAGTAAGTGCT	0.567																																						ENST00000398634.2																			0				breast(2)	2						c.e1+1		chromosome 2 open reading frame 73							167.0	188.0	181.0					2																	54558137		1938	4129	6067	SO:0001630	splice_region_variant	129852							g.chr2:54558137C>T	BC031669, AK097617	CCDS46285.1	2p16.2	2008-07-07			ENSG00000177994	ENSG00000177994			26861	protein-coding gene	gene with protein product						14702039	Standard	NM_001100396		Approved	FLJ40298	uc002rxt.1	Q8N5S3	OTTHUMG00000151826	ENST00000398634.2:c.26+1C>T	2.37:g.54558137C>T						C2orf73_ENST00000405749.1_Splice_Site_p.Q9_splice|C2orf73_ENST00000491538.1_3'UTR	p.Q9_splice	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN			1	67	+			9					A0AV79|A0AV81|Q8N7V4	Splice_Site	SNP	ENST00000398634.2	37	c.26_splice	CCDS46285.1	.	.	.	.	.	.	.	.	.	.	C	31	5.080878	0.94050	.	.	ENSG00000177994	ENST00000405749;ENST00000398634;ENST00000447328	.	.	.	3.85	3.85	0.44370	.	0.501817	0.15252	N	0.272284	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.0841	11.5904	0.50943	0.0:1.0:0.0:0.0	.	.	.	.	X	9	.	ENSP00000325555:Q9X	Q	+	1	0	C2orf73	54411641	1.000000	0.71417	0.999000	0.59377	0.417000	0.31264	2.719000	0.47244	2.450000	0.82876	0.655000	0.94253	CAA		0.567	C2orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324075.2	NM_001100396	Nonsense_Mutation	17	43	0	0	0	1	0	17	43				
DHX16	8449	broad.mit.edu	37	6	30638712	30638712	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr6:30638712G>A	ENST00000376442.3	-	3	659	c.464C>T	c.(463-465)aCa>aTa	p.T155I		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	155					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						TGGCTTCTCTGTCTGCTGTTT	0.567																																						ENST00000376442.3																			0				kidney(2)|ovary(2)	4						c.(463-465)aCa>aTa		DEAH (Asp-Glu-Ala-His) box polypeptide 16							176.0	129.0	146.0					6																	30638712		1511	2709	4220	SO:0001583	missense	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30638712G>A	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.464C>T	6.37:g.30638712G>A	ENSP00000365625:p.Thr155Ile						p.T155I	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN			3	659	-			155					O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	c.464C>T	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	G	8.178	0.793236	0.16327	.	.	ENSG00000204560	ENST00000376442;ENST00000415603	T;T	0.65178	-0.14;1.97	4.58	1.6	0.23607	.	1.172100	0.06074	N	0.660655	T	0.18923	0.0454	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.11235	0.004;0.0	B;B	0.04013	0.001;0.001	T	0.14309	-1.0477	10	0.39692	T	0.17	.	1.3026	0.02082	0.2008:0.185:0.4468:0.1674	.	95;155	B4DZ28;O60231	.;DHX16_HUMAN	I	155;95	ENSP00000365625:T155I;ENSP00000399101:T95I	ENSP00000365625:T155I	T	-	2	0	DHX16	30746691	0.000000	0.05858	0.053000	0.19242	0.677000	0.39632	-0.059000	0.11731	0.547000	0.28938	-0.552000	0.04208	ACA		0.567	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		19	83	0	0	0	1	0	19	83				
USP30	84749	broad.mit.edu	37	12	109520485	109520485	+	Silent	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr12:109520485G>A	ENST00000257548.5	+	10	978	c.885G>A	c.(883-885)acG>acA	p.T295T	USP30_ENST00000392784.2_Silent_p.T264T	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	295	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.T286T(1)		endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CCAAGGGAACGTTGAACGGGG	0.453																																						ENST00000257548.5																			1	Substitution - coding silent(1)	p.T286T(1)	endometrium(1)	endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						c.(883-885)acG>acA		ubiquitin specific peptidase 30							81.0	74.0	76.0					12																	109520485		2203	4300	6503	SO:0001819	synonymous_variant	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109520485G>A	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.885G>A	12.37:g.109520485G>A						USP30_ENST00000392784.2_Silent_p.T264T	p.T295T	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN			10	978	+			295					Q8WTU7|Q96JX4|Q9BSS3	Silent	SNP	ENST00000257548.5	37	c.885G>A	CCDS9123.2																																																																																				0.453	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663		17	39	0	0	0	1	0	17	39				
AHNAK2	113146	broad.mit.edu	37	14	105413483	105413483	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:105413483C>A	ENST00000333244.5	-	7	8424	c.8305G>T	c.(8305-8307)Gcc>Tcc	p.A2769S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2769						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACATCGGGGGCTGTCACTTCC	0.617																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(8305-8307)Gcc>Tcc		AHNAK nucleoprotein 2							122.0	136.0	131.0					14																	105413483		1863	4083	5946	SO:0001583	missense	113146					nucleus		g.chr14:105413483C>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8305G>T	14.37:g.105413483C>A	ENSP00000353114:p.Ala2769Ser					AHNAK2_ENST00000557457.1_Intron	p.A2769S	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	8424	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2769					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.8305G>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	0.787	-0.760143	0.03019	.	.	ENSG00000185567	ENST00000333244	T	0.00892	5.57	3.54	-0.547	0.11836	.	.	.	.	.	T	0.01156	0.0038	M	0.66939	2.045	0.09310	N	1	B	0.23650	0.089	B	0.16289	0.015	T	0.47548	-0.9109	9	0.11182	T	0.66	.	7.4966	0.27492	0.0:0.5678:0.0:0.4322	.	2769	Q8IVF2	AHNK2_HUMAN	S	2769	ENSP00000353114:A2769S	ENSP00000353114:A2769S	A	-	1	0	AHNAK2	104484528	.	.	0.000000	0.03702	0.007000	0.05969	.	.	0.048000	0.15891	0.306000	0.20318	GCC		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		33	256	1	0	1.67305e-13	1	1.90542e-13	33	256				
LGSN	51557	broad.mit.edu	37	6	63995530	63995530	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr6:63995530C>T	ENST00000370657.4	-	3	325	c.292G>A	c.(292-294)Gtg>Atg	p.V98M	LGSN_ENST00000370658.5_Missense_Mutation_p.V98M			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	98					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GACCTGGACACGCCGTGGAGG	0.428																																						ENST00000370658.5																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(292-294)Gtg>Atg		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)						104.0	88.0	94.0					6																	63995530		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63995530C>T	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.292G>A	6.37:g.63995530C>T	ENSP00000359691:p.Val98Met					LGSN_ENST00000370657.4_Missense_Mutation_p.V98M	p.V98M	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN			3	325	-			98					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.292G>A	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199873	0.79015	.	.	ENSG00000146166	ENST00000370658;ENST00000370657	T;T	0.42513	0.97;0.97	5.78	5.78	0.91487	Glutamine synthetase, beta-Grasp (3);	0.056984	0.64402	D	0.000001	T	0.45438	0.1342	L	0.37561	1.115	0.53005	D	0.999962	D;D	0.89917	1.0;0.958	D;P	0.74348	0.983;0.593	T	0.33904	-0.9850	10	0.51188	T	0.08	-27.6554	14.2234	0.65843	0.1491:0.8509:0.0:0.0	.	98;98	Q5TDP6-2;Q5TDP6	.;LGSN_HUMAN	M	98	ENSP00000359692:V98M;ENSP00000359691:V98M	ENSP00000359691:V98M	V	-	1	0	LGSN	64053489	0.995000	0.38212	0.996000	0.52242	0.928000	0.56348	3.261000	0.51530	2.894000	0.99253	0.655000	0.94253	GTG		0.428	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		4	25	0	0	0	1	0	4	25				
TSTD2	158427	broad.mit.edu	37	9	100388079	100388079	+	Silent	SNP	T	T	G			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr9:100388079T>G	ENST00000341170.4	-	3	748	c.366A>C	c.(364-366)tcA>tcC	p.S122S	TSTD2_ENST00000354801.2_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	122										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						AAAGACTCTTTGAGGTGCTCA	0.433																																						ENST00000341170.4																			0				large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(364-366)tcA>tcC		thiosulfate sulfurtransferase (rhodanese)-like domain containing 2							161.0	158.0	159.0					9																	100388079		2203	4300	6503	SO:0001819	synonymous_variant	158427							g.chr9:100388079T>G	AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 97"""	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.366A>C	9.37:g.100388079T>G						TSTD2_ENST00000354801.2_5'UTR|TSTD2_ENST00000375172.2_5'UTR|TSTD2_ENST00000375165.1_5'UTR	p.S122S	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN			3	748	-			122					A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Silent	SNP	ENST00000341170.4	37	c.366A>C	CCDS6727.2																																																																																				0.433	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053325.4	NM_139246		18	94	0	0	0	1	0	18	94				
OR6C68	403284	broad.mit.edu	37	12	55887079	55887079	+	Silent	SNP	T	T	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr12:55887079T>A	ENST00000548615.1	+	1	918	c.918T>A	c.(916-918)atT>atA	p.I306I	OR6C68_ENST00000379662.1_Silent_p.I311I|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005519.2	NP_001005519.2	A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						TCAAAAAAATTGCATTTCGTT	0.289																																						ENST00000379662.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(931-933)atT>atA		olfactory receptor, family 6, subfamily C, member 68							22.0	27.0	25.0					12																	55887079		2183	4279	6462	SO:0001819	synonymous_variant	403284				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55887079T>A		CCDS31826.1, CCDS31826.2	12q13.2	2013-09-23			ENSG00000205327	ENSG00000205327		"""GPCR / Class A : Olfactory receptors"""	31297	protein-coding gene	gene with protein product							Standard	NM_001005519		Approved		uc031qhq.1	A6NDL8	OTTHUMG00000169958	ENST00000548615.1:c.918T>A	12.37:g.55887079T>A						RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|OR6C68_ENST00000548615.1_Silent_p.I306I	p.I311I			A6NDL8	O6C68_HUMAN			1	933	+			306						Silent	SNP	ENST00000548615.1	37	c.933T>A	CCDS31826.2																																																																																				0.289	OR6C68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406677.1			8	16	0	0	0	1	0	8	16				
IGHA2	3494	broad.mit.edu	37	14	106054703	106054703	+	RNA	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:106054703C>T	ENST00000390539.2	-	0	29				AL928742.1_ENST00000581377.1_RNA|AL928742.2_ENST00000578042.1_RNA			P01877	IGHA2_HUMAN	immunoglobulin heavy constant alpha 2 (A2m marker)						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										CGAGGCTCAGCGGGAAGACCT	0.637																																						ENST00000390539.2																			0																				57.0	65.0	62.0					14																	106054703		2093	4215	6308			3494							g.chr14:106054703C>T	J00221		14q32.33	2012-10-02			ENSG00000211890	ENSG00000211890		"""Immunoglobulins / IGH locus"""	5479	other	immunoglobulin gene		147000					Standard	NG_001019		Approved			P01877	OTTHUMG00000152472		14.37:g.106054703C>T														0	29	-									RNA	SNP	ENST00000390539.2	37																																																																																						0.637	IGHA2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326338.1	NG_001019		25	139	0	0	0	1	0	25	139				
KLHL9	55958	broad.mit.edu	37	9	21334148	21334148	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr9:21334148C>T	ENST00000359039.4	-	1	1231	c.711G>A	c.(709-711)atG>atA	p.M237I	KLHL9_ENST00000537938.1_Missense_Mutation_p.M169I			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	237	BACK.				cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		GAATATTCTTCATTAACTTTG	0.423																																						ENST00000359039.4																			0				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32						c.(709-711)atG>atA		kelch-like family member 9							115.0	109.0	111.0					9																	21334148		2203	4300	6503	SO:0001583	missense	55958				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody		g.chr9:21334148C>T	AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"""Kelch-like"", ""BTB/POZ domain containing"""	18732	protein-coding gene	gene with protein product		611201	"""kelch-like 9 (Drosophila)"""				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.711G>A	9.37:g.21334148C>T	ENSP00000351933:p.Met237Ile					KLHL9_ENST00000537938.1_Missense_Mutation_p.M169I	p.M237I			Q9P2J3	KLHL9_HUMAN		Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)	1	1231	-			237			BACK.		Q8TCQ2	Missense_Mutation	SNP	ENST00000359039.4	37	c.711G>A	CCDS6503.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121125	0.56613	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	T;T	0.68903	-0.36;-0.36	5.37	5.37	0.77165	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.70605	0.3243	L	0.51422	1.61	0.80722	D	1	P	0.36110	0.537	P	0.45406	0.479	T	0.72893	-0.4154	10	0.72032	D	0.01	.	16.9779	0.86319	0.0:1.0:0.0:0.0	.	237	Q9P2J3	KLHL9_HUMAN	I	237;169	ENSP00000351933:M237I;ENSP00000437733:M169I	ENSP00000351933:M237I	M	-	3	0	KLHL9	21324148	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.408000	0.80041	2.688000	0.91661	0.650000	0.86243	ATG		0.423	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847		4	61	0	0	0	1	0	4	61				
ABCG8	64241	broad.mit.edu	37	2	44079860	44079860	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:44079860C>G	ENST00000272286.2	+	6	907	c.817C>G	c.(817-819)Cgc>Ggc	p.R273G		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	273	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CCACCAGCCTCGCTCTGACAT	0.592																																						ENST00000272286.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(817-819)Cgc>Ggc		ATP-binding cassette, sub-family G (WHITE), member 8							81.0	72.0	75.0					2																	44079860		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44079860C>G	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.817C>G	2.37:g.44079860C>G	ENSP00000272286:p.Arg273Gly						p.R273G	NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN			6	907	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	273			ABC transporter.		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.817C>G	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077738	0.55753	.	.	ENSG00000143921	ENST00000272286	T	0.42131	0.98	5.2	4.32	0.51571	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	T	0.50000	0.1590	N	0.20881	0.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.53330	-0.8454	10	0.56958	D	0.05	.	14.115	0.65146	0.0:0.9271:0.0:0.0729	.	273;273	Q9H221-2;Q9H221	.;ABCG8_HUMAN	G	273	ENSP00000272286:R273G	ENSP00000272286:R273G	R	+	1	0	ABCG8	43933364	0.969000	0.33509	0.053000	0.19242	0.557000	0.35523	2.351000	0.44071	1.180000	0.42898	0.561000	0.74099	CGC		0.592	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		4	72	0	0	0	1	0	4	72				
ARIH2	10425	broad.mit.edu	37	3	49008082	49008082	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr3:49008082G>A	ENST00000356401.4	+	8	1054	c.715G>A	c.(715-717)Gta>Ata	p.V239I	ARIH2_ENST00000449376.1_Missense_Mutation_p.V239I|ARIH2_ENST00000490095.1_3'UTR	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	239					developmental cell growth (GO:0048588)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organismal development (GO:0007275)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		GGTTATTCGGGTACAGGAGCC	0.547																																						ENST00000356401.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13						c.(715-717)Gta>Ata		ariadne RBR E3 ubiquitin protein ligase 2							118.0	110.0	113.0					3																	49008082		2203	4300	6503	SO:0001583	missense	10425				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:49008082G>A	AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"""all-trans retinoic acid inducible RING finger"""	605615	"""ariadne (Drosophila) homolog 2"", ""ariadne homolog 2 (Drosophila)"""			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.715G>A	3.37:g.49008082G>A	ENSP00000348769:p.Val239Ile					ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_Missense_Mutation_p.V239I	p.V239I	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)	8	1054	+			239					Q9HBZ6|Q9UEM9	Missense_Mutation	SNP	ENST00000356401.4	37	c.715G>A	CCDS2780.1	.	.	.	.	.	.	.	.	.	.	G	36	5.868238	0.97043	.	.	ENSG00000177479	ENST00000356401;ENST00000449376;ENST00000444790;ENST00000395481	T;T	0.63417	-0.04;-0.04	5.42	5.42	0.78866	Zinc finger, C6HC-type (2);	0.000000	0.85682	D	0.000000	T	0.74291	0.3697	L	0.49455	1.56	0.80722	D	1	P;P;D	0.55172	0.951;0.92;0.97	P;D;P	0.65443	0.675;0.935;0.817	T	0.71076	-0.4697	10	0.34782	T	0.22	.	19.206	0.93730	0.0:0.0:1.0:0.0	.	246;239;239	B3KMG5;Q53ET9;O95376	.;.;ARI2_HUMAN	I	239;239;238;63	ENSP00000348769:V239I;ENSP00000403222:V239I	ENSP00000348769:V239I	V	+	1	0	ARIH2	48983086	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.425000	0.97467	2.534000	0.85438	0.561000	0.74099	GTA		0.547	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257525.1	NM_006321		4	86	0	0	0	1	0	4	86				
ZNF292	23036	broad.mit.edu	37	6	87968276	87968276	+	Silent	SNP	T	T	G			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr6:87968276T>G	ENST00000369577.3	+	8	4972	c.4929T>G	c.(4927-4929)gcT>gcG	p.A1643A	ZNF292_ENST00000339907.4_Silent_p.A1638A	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1643						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CACCTAACGCTTCCCAAAACT	0.383																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(4927-4929)gcT>gcG		zinc finger protein 292							46.0	46.0	46.0					6																	87968276		1942	4135	6077	SO:0001819	synonymous_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87968276T>G	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.4929T>G	6.37:g.87968276T>G						ZNF292_ENST00000339907.4_Silent_p.A1638A	p.A1643A	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	4972	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1643					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	ENST00000369577.3	37	c.4929T>G	CCDS47457.1																																																																																				0.383	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		7	31	0	0	0	1	0	7	31				
TRAPPC11	60684	broad.mit.edu	37	4	184606264	184606264	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr4:184606264C>G	ENST00000334690.6	+	16	1797	c.1595C>G	c.(1594-1596)tCt>tGt	p.S532C	TRAPPC11_ENST00000357207.4_Missense_Mutation_p.S532C|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.S138C	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	532					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											GACCAGAAGTCTCGGATAGAA	0.299																																						ENST00000334690.6																			0											c.(1594-1596)tCt>tGt		trafficking protein particle complex 11							75.0	83.0	81.0					4																	184606264		2201	4298	6499	SO:0001583	missense	60684							g.chr4:184606264C>G		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.1595C>G	4.37:g.184606264C>G	ENSP00000335371:p.Ser532Cys					TRAPPC11_ENST00000357207.4_Missense_Mutation_p.S532C|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.S138C	p.S532C	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN			16	1797	+			532					A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Missense_Mutation	SNP	ENST00000334690.6	37	c.1595C>G	CCDS34112.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086821	0.76642	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109;ENST00000512476	.	.	.	5.89	5.89	0.94794	.	0.048501	0.85682	D	0.000000	T	0.75968	0.3922	M	0.67953	2.075	0.80722	D	1	D;D;D	0.76494	0.999;0.993;0.996	P;P;P	0.59703	0.862;0.72;0.855	T	0.72450	-0.4290	9	0.36615	T	0.2	.	20.2562	0.98421	0.0:1.0:0.0:0.0	.	138;532;532	D6RHE5;Q7Z392;Q7Z392-3	.;TPC11_HUMAN;.	C	532;532;532;138	.	ENSP00000335371:S532C	S	+	2	0	C4orf41	184843258	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	5.814000	0.69208	2.797000	0.96272	0.563000	0.77884	TCT		0.299	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942		5	20	0	0	0	1	0	5	20				
GRM3	2913	broad.mit.edu	37	7	86493653	86493653	+	Silent	SNP	C	C	A	rs144561011	byFrequency	TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr7:86493653C>A	ENST00000361669.2	+	6	3721	c.2622C>A	c.(2620-2622)tcC>tcA	p.S874S	GRM3_ENST00000394720.2_Missense_Mutation_p.H517N|GRM3_ENST00000536043.1_Silent_p.S746S|GRM3_ENST00000439827.1_Missense_Mutation_p.H519N|GRM3_ENST00000546348.1_Silent_p.S466S	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	874					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TCCTCGACTCCACCACCTCAT	0.473																																					GBM(52;969 1098 3139 52280)	ENST00000439827.1																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(1555-1557)Cac>Aac		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						282.0	229.0	247.0					7																	86493653		2203	4300	6503	SO:0001819	synonymous_variant	2913				synaptic transmission	integral to plasma membrane		g.chr7:86493653C>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2622C>A	7.37:g.86493653C>A						GRM3_ENST00000361669.2_Silent_p.S874S|GRM3_ENST00000546348.1_Silent_p.S466S|GRM3_ENST00000394720.2_Missense_Mutation_p.H517N|GRM3_ENST00000536043.1_Silent_p.S746S	p.H519N			Q14832	GRM3_HUMAN			5	1726	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		0					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.1555C>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003853	0.54254	.	.	ENSG00000198822	ENST00000439827;ENST00000394720	D;D	0.87966	-2.32;-2.32	5.99	3.1	0.35709	.	.	.	.	.	T	0.79557	0.4466	.	.	.	0.22280	N	0.999237	B	0.33238	0.403	B	0.25405	0.06	T	0.70726	-0.4793	8	0.87932	D	0	.	8.2948	0.31980	0.0:0.7309:0.1291:0.1401	.	519	G5E9K2	.	N	519;517	ENSP00000398767:H519N;ENSP00000378209:H517N	ENSP00000378209:H517N	H	+	1	0	GRM3	86331589	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.518000	0.35877	0.879000	0.35944	-0.140000	0.14226	CAC		0.473	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			12	135	1	0	0.00185496	1	0.00188562	12	135				
DUSP6	1848	broad.mit.edu	37	12	89745800	89745800	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr12:89745800C>A	ENST00000279488.7	-	1	1248	c.17G>T	c.(16-18)aGa>aTa	p.R6I	DUSP6_ENST00000308385.6_Missense_Mutation_p.R6I|DUSP6_ENST00000547291.1_5'Flank|DUSP6_ENST00000547140.1_5'Flank	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	6					cell differentiation (GO:0030154)|dorsal/ventral pattern formation (GO:0009953)|inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|regulation of endodermal cell fate specification (GO:0042663)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of heart growth (GO:0060420)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						GGGCACGGGTCTGAGCGTATC	0.677																																					Colon(132;3456 5224)	ENST00000279488.7																			0				large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						c.(16-18)aGa>aTa		dual specificity phosphatase 6							44.0	49.0	47.0					12																	89745800		2203	4300	6503	SO:0001583	missense	1848				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:89745800C>A	BC037236	CCDS9033.1, CCDS9034.1	12q22-q23	2011-06-09				ENSG00000139318		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3072	protein-coding gene	gene with protein product		602748				8626780, 9205128	Standard	NM_001946		Approved	MKP-3, PYST1	uc001tay.3	Q16828		ENST00000279488.7:c.17G>T	12.37:g.89745800C>A	ENSP00000279488:p.Arg6Ile					DUSP6_ENST00000308385.6_Missense_Mutation_p.R6I	p.R6I	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN			1	1248	-			6					O75109|Q53Y75|Q9BSH6	Missense_Mutation	SNP	ENST00000279488.7	37	c.17G>T	CCDS9033.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.122075	0.56613	.	.	ENSG00000139318	ENST00000279488;ENST00000308385;ENST00000548755	T;T;T	0.41065	1.01;1.01;1.01	5.99	5.99	0.97316	Rhodanese-like (1);	0.089646	0.85682	D	0.000000	T	0.43033	0.1229	L	0.40543	1.245	0.80722	D	1	P;B	0.41214	0.742;0.029	B;B	0.40677	0.337;0.009	T	0.37753	-0.9692	10	0.87932	D	0	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	6;6	Q16828-2;Q16828	.;DUS6_HUMAN	I	6	ENSP00000279488:R6I;ENSP00000307835:R6I;ENSP00000446858:R6I	ENSP00000279488:R6I	R	-	2	0	DUSP6	88269931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.423000	0.44705	2.840000	0.97914	0.655000	0.94253	AGA		0.677	DUSP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406534.2	NM_001946, NM_022652		5	136	1	0	1.23904e-05	1	1.30258e-05	5	136				
APBB1	322	broad.mit.edu	37	11	6422634	6422634	+	Missense_Mutation	SNP	C	C	T	rs144723218		TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr11:6422634C>T	ENST00000609360.1	-	11	1628	c.1529G>A	c.(1528-1530)cGc>cAc	p.R510H	APBB1_ENST00000608655.1_Missense_Mutation_p.R290H|APBB1_ENST00000389906.2_Missense_Mutation_p.R510H|APBB1_ENST00000608704.1_Missense_Mutation_p.R251H|APBB1_ENST00000529519.1_Missense_Mutation_p.R35H|APBB1_ENST00000609331.1_Missense_Mutation_p.R275H|APBB1_ENST00000608645.1_Missense_Mutation_p.R251H|APBB1_ENST00000530885.1_Missense_Mutation_p.R288H|APBB1_ENST00000608394.1_Missense_Mutation_p.R251H|APBB1_ENST00000299402.6_Missense_Mutation_p.R508H|APBB1_ENST00000311051.3_Missense_Mutation_p.R508H	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	510					apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TACCAAGCAGCGGGCATTACG	0.562																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(1528-1530)cGc>cAc		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)		C	HIS/ARG,HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	69.0	63.0	65.0		1529,1523	4.9	1.0	11	dbSNP_134	65	0,8592		0,0,4296	no	missense,missense	APBB1	NM_001164.2,NM_145689.1	29,29	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	510/711,508/709	6422634	1,12993	2201	4296	6497	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6422634C>T	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1529G>A	11.37:g.6422634C>T	ENSP00000477213:p.Arg510His					APBB1_ENST00000530885.1_Missense_Mutation_p.R288H|APBB1_ENST00000533407.1_3'UTR|APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000311051.3_Missense_Mutation_p.R508H|APBB1_ENST00000299402.6_Missense_Mutation_p.R508H	p.R510H	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	10	1628	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	510					A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.1529G>A		.	.	.	.	.	.	.	.	.	.	C	20.2	3.949378	0.73787	2.27E-4	0.0	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885	T;T;T;T	0.19105	2.42;2.42;2.4;2.17	4.94	4.94	0.65067	Phosphotyrosine interaction domain (1);	0.235413	0.32671	N	0.005799	T	0.36524	0.0970	L	0.36672	1.1	0.40491	D	0.980545	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;P;P;D	0.79108	0.992;0.848;0.848;0.975	T	0.11251	-1.0595	10	0.49607	T	0.09	-16.9968	15.6382	0.76973	0.0:1.0:0.0:0.0	.	113;510;288;508	B7Z4M4;O00213;B7Z2Y0;O00213-2	.;APBB1_HUMAN;.;.	H	508;508;510;359;251;275;288	ENSP00000299402:R508H;ENSP00000311912:R508H;ENSP00000374556:R510H;ENSP00000433338:R288H	ENSP00000299402:R508H	R	-	2	0	APBB1	6379210	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.115000	0.50391	2.269000	0.75478	0.655000	0.94253	CGC		0.562	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		13	37	0	0	0	1	0	13	37				
AHNAK2	113146	broad.mit.edu	37	14	105415385	105415385	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:105415385G>T	ENST00000333244.5	-	7	6522	c.6403C>A	c.(6403-6405)Ctg>Atg	p.L2135M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2135						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCCCCTGCAGATGCGCACTA	0.582																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(6403-6405)Ctg>Atg		AHNAK nucleoprotein 2							184.0	133.0	153.0					14																	105415385		1991	2989	4980	SO:0001583	missense	113146					nucleus		g.chr14:105415385G>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6403C>A	14.37:g.105415385G>T	ENSP00000353114:p.Leu2135Met					AHNAK2_ENST00000557457.1_Intron	p.L2135M	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	6522	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2135					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.6403C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	10.16	1.273041	0.23221	.	.	ENSG00000185567	ENST00000333244	T	0.02158	4.42	1.9	-0.915	0.10494	.	.	.	.	.	T	0.05547	0.0146	L	0.53671	1.685	0.09310	N	1	D	0.56521	0.976	D	0.67103	0.949	T	0.35251	-0.9796	9	0.44086	T	0.13	.	1.0465	0.01571	0.1618:0.215:0.4061:0.2171	.	2135	Q8IVF2	AHNK2_HUMAN	M	2135	ENSP00000353114:L2135M	ENSP00000353114:L2135M	L	-	1	2	AHNAK2	104486430	0.224000	0.23674	0.004000	0.12327	0.003000	0.03518	0.306000	0.19279	-0.296000	0.08947	-0.667000	0.03836	CTG		0.582	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		57	160	1	0	2.80097e-13	1	3.16072e-13	57	160				
CCNE1	898	broad.mit.edu	37	19	30308111	30308111	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr19:30308111A>G	ENST00000262643.3	+	5	527	c.248A>G	c.(247-249)gAt>gGt	p.D83G	CCNE1_ENST00000444983.2_Missense_Mutation_p.D68G|CCNE1_ENST00000357943.5_Missense_Mutation_p.D83G	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	83					androgen receptor signaling pathway (GO:0030521)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|Wnt signaling pathway (GO:0016055)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			AAAGAAGATGATGACCGGGTT	0.522			A		serous ovarian																																	ENST00000262643.3				Dom	yes		19	19q12	898	A	cyclin E1			E			serous ovarian		0				endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20						c.(247-249)gAt>gGt		cyclin E1							98.0	89.0	92.0					19																	30308111		2203	4300	6503	SO:0001583	missense	898				androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity	g.chr19:30308111A>G	M73812	CCDS12419.1	19q12	2014-07-03			ENSG00000105173	ENSG00000105173			1589	protein-coding gene	gene with protein product	"""cyclin Es"", ""cyclin Et"""	123837		CCNE		1833066	Standard	NM_001238		Approved		uc002nsn.3	P24864	OTTHUMG00000177626	ENST00000262643.3:c.248A>G	19.37:g.30308111A>G	ENSP00000262643:p.Asp83Gly					CCNE1_ENST00000357943.5_Missense_Mutation_p.D83G|CCNE1_ENST00000444983.2_Missense_Mutation_p.D68G	p.D83G	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)		5	527	+	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		83					A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	Missense_Mutation	SNP	ENST00000262643.3	37	c.248A>G	CCDS12419.1	.	.	.	.	.	.	.	.	.	.	A	14.11	2.439040	0.43326	.	.	ENSG00000105173	ENST00000262643;ENST00000357943;ENST00000444983	T;T;T	0.48836	1.85;0.8;1.86	6.06	3.96	0.45880	.	0.353044	0.34906	N	0.003598	T	0.37598	0.1009	L	0.47716	1.5	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.23762	-1.0179	10	0.30078	T	0.28	.	8.4846	0.33063	0.8348:0.0:0.1652:0.0	.	83	P24864	CCNE1_HUMAN	G	83;83;68	ENSP00000262643:D83G;ENSP00000350625:D83G;ENSP00000410179:D68G	ENSP00000262643:D83G	D	+	2	0	CCNE1	34999951	0.977000	0.34250	0.018000	0.16275	0.088000	0.18126	1.074000	0.30703	0.544000	0.28883	0.533000	0.62120	GAT		0.522	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438138.1	NM_001238		9	80	0	0	0	1	0	9	80				
TP53	7157	broad.mit.edu	37	17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr17:7577574T>C	ENST00000269305.4	-	7	896	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000420246.2_Missense_Mutation_p.Y236C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	236	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTTACACATGTAGTTGTAGTG	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		94	Substitution - Missense(69)|Deletion - In frame(9)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	p.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(1)	breast(13)|ovary(13)|lung(9)|haematopoietic_and_lymphoid_tissue(7)|biliary_tract(6)|stomach(6)|oesophagus(6)|upper_aerodigestive_tract(5)|central_nervous_system(5)|urinary_tract(5)|pancreas(5)|prostate(4)|bone(4)|liver(2)|large_intestine(2)|soft_tissue(1)|endometrium(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004907	TP53	M		c.(706-708)tAc>tGc	Other conserved DNA damage response genes	tumor protein p53							126.0	100.0	109.0					17																	7577574		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577574T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.707A>G	17.37:g.7577574T>C	ENSP00000269305:p.Tyr236Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.Y236C|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C	p.Y236C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	839	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	236		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.707A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.173261	0.57584	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99801	-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81	4.09	0.528	0.17089	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.335105	0.32884	N	0.005532	D	0.99582	0.9849	M	0.74258	2.255	0.44570	D	0.997534	D;D;D;D;D;D	0.89917	0.998;0.982;1.0;0.998;0.999;1.0	D;P;D;D;D;D	0.81914	0.974;0.898;0.99;0.985;0.992;0.995	D	0.99253	1.0888	10	0.87932	D	0	-12.7522	10.2884	0.43581	0.222:0.0:0.0:0.778	.	236;236;143;236;236;236	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	236;236;236;236;236;236;225;143;104;143	ENSP00000410739:Y236C;ENSP00000352610:Y236C;ENSP00000269305:Y236C;ENSP00000398846:Y236C;ENSP00000391127:Y236C;ENSP00000391478:Y236C;ENSP00000425104:Y104C;ENSP00000423862:Y143C	ENSP00000269305:Y236C	Y	-	2	0	TP53	7518299	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	1.502000	0.35704	0.034000	0.15491	0.379000	0.24179	TAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		11	67	0	0	0	1	0	11	67				
NCOA1	8648	broad.mit.edu	37	2	24985573	24985573	+	Silent	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:24985573G>A	ENST00000406961.1	+	22	4735	c.4083G>A	c.(4081-4083)ctG>ctA	p.L1361L	NCOA1_ENST00000405141.1_Silent_p.L1361L|NCOA1_ENST00000288599.5_Silent_p.L1361L|NCOA1_ENST00000407230.1_Silent_p.L1210L|NCOA1_ENST00000395856.3_Silent_p.L1361L|NCOA1_ENST00000538539.1_Silent_p.L1361L|NCOA1_ENST00000348332.3_Silent_p.L1361L			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1361					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCCCGCACTGAGACACACAG	0.398			T	PAX3	alveolar rhadomyosarcoma																																	ENST00000405141.1				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53						c.(4081-4083)ctG>ctA		nuclear receptor coactivator 1							155.0	167.0	163.0					2																	24985573		2203	4300	6503	SO:0001819	synonymous_variant	8648							g.chr2:24985573G>A	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.4083G>A	2.37:g.24985573G>A						NCOA1_ENST00000538539.1_Silent_p.L1361L|NCOA1_ENST00000348332.3_Silent_p.L1361L|NCOA1_ENST00000288599.5_Silent_p.L1361L|NCOA1_ENST00000407230.1_Silent_p.L1210L|NCOA1_ENST00000406961.1_Silent_p.L1361L|NCOA1_ENST00000395856.3_Silent_p.L1361L	p.L1361L			Q15788	NCOA1_HUMAN			23	4794	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1361					O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP	ENST00000406961.1	37	c.4083G>A	CCDS1712.1																																																																																				0.398	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		30	244	0	0	0	1	0	30	244				
PAX1	5075	broad.mit.edu	37	20	21689276	21689276	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr20:21689276G>A	ENST00000398485.2	+	3	1051	c.997G>A	c.(997-999)Gcc>Acc	p.A333T	PAX1_ENST00000444366.2_Missense_Mutation_p.A309T|PAX1_ENST00000460221.1_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	333					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GGCCTTCCCCGCCACCCCCGC	0.612																																						ENST00000398485.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						c.(997-999)Gcc>Acc		paired box 1							38.0	44.0	42.0					20																	21689276		2203	4300	6503	SO:0001583	missense	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21689276G>A		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.997G>A	20.37:g.21689276G>A	ENSP00000381499:p.Ala333Thr					PAX1_ENST00000444366.2_Missense_Mutation_p.A309T|PAX1_ENST00000460221.1_3'UTR	p.A333T	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN			3	1051	+			333					B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	ENST00000398485.2	37	c.997G>A	CCDS13146.2	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438416	0.25900	.	.	ENSG00000125813	ENST00000398485;ENST00000444366	D;D	0.98567	-4.57;-5.0	5.41	2.38	0.29361	.	0.415553	0.25500	N	0.030259	D	0.95156	0.8430	L	0.43152	1.355	0.09310	N	1	B;B;B	0.22211	0.009;0.001;0.066	B;B;B	0.20767	0.031;0.001;0.009	D	0.86637	0.1889	10	0.20519	T	0.43	.	9.6597	0.39947	0.2322:0.0:0.7678:0.0	.	309;239;333	P15863-2;C9J775;P15863	.;.;PAX1_HUMAN	T	333;309	ENSP00000381499:A333T;ENSP00000410355:A309T	ENSP00000381499:A333T	A	+	1	0	PAX1	21637276	0.044000	0.20184	0.014000	0.15608	0.197000	0.23852	0.545000	0.23268	0.248000	0.21435	0.455000	0.32223	GCC		0.612	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			13	75	0	0	0	1	0	13	75				
SLC38A10	124565	broad.mit.edu	37	17	79226454	79226454	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr17:79226454G>A	ENST00000374759.3	-	13	1869	c.1486C>T	c.(1486-1488)Cgc>Tgc	p.R496C	SLC38A10_ENST00000288439.5_Missense_Mutation_p.R496C	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	496					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GGCTCGTGGCGGTGGGCCTCG	0.627																																						ENST00000374759.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1486-1488)Cgc>Tgc		solute carrier family 38, member 10							56.0	47.0	50.0					17																	79226454		2201	4295	6496	SO:0001583	missense	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79226454G>A	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.1486C>T	17.37:g.79226454G>A	ENSP00000363891:p.Arg496Cys					SLC38A10_ENST00000288439.5_Missense_Mutation_p.R496C	p.R496C	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		13	1869	-	all_neural(118;0.0804)|Melanoma(429;0.242)		496					Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP	ENST00000374759.3	37	c.1486C>T	CCDS42397.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460493	0.63401	.	.	ENSG00000157637	ENST00000374759;ENST00000288439	T;T	0.32272	1.61;1.46	4.26	3.28	0.37604	.	0.584021	0.18610	N	0.136196	T	0.49321	0.1550	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.47661	-0.9100	10	0.87932	D	0	-24.5239	9.4602	0.38781	0.0:0.1564:0.6815:0.1621	.	496;496	Q9HBR0-2;Q9HBR0	.;S38AA_HUMAN	C	496	ENSP00000363891:R496C;ENSP00000288439:R496C	ENSP00000288439:R496C	R	-	1	0	SLC38A10	76841049	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	7.110000	0.77069	0.986000	0.38683	-0.323000	0.08544	CGC		0.627	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		12	52	0	0	0	1	0	12	52				
SIGLEC10	89790	broad.mit.edu	37	19	51918188	51918188	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr19:51918188C>T	ENST00000339313.5	-	8	1621	c.1505G>A	c.(1504-1506)tGg>tAg	p.W502*	SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000442846.3_Intron|CTD-2616J11.2_ENST00000526996.1_RNA|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000356298.5_Nonsense_Mutation_p.W502*|SIGLEC10_ENST00000432469.2_Intron|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000439889.2_Nonsense_Mutation_p.W444*|SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000525998.1_Intron			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	502					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GCTGTTGGCCCAGGGCCCGGC	0.692																																						ENST00000356298.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1504-1506)tGg>tAg		sialic acid binding Ig-like lectin 10							30.0	35.0	33.0					19																	51918188		2203	4294	6497	SO:0001587	stop_gained	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51918188C>T	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.1505G>A	19.37:g.51918188C>T	ENSP00000345243:p.Trp502*					SIGLEC10_ENST00000339313.5_Nonsense_Mutation_p.W502*|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000439889.2_Nonsense_Mutation_p.W444*|SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000525998.1_Intron	p.W502*	NM_033130.4	NP_149121.2	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	8	1621	-		all_neural(266;0.0199)	502					A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Nonsense_Mutation	SNP	ENST00000339313.5	37	c.1505G>A	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	36	5.901550	0.97087	.	.	ENSG00000142512	ENST00000356298;ENST00000439889;ENST00000339313	.	.	.	4.83	4.83	0.62350	.	0.000000	0.50627	D	0.000104	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.417	0.60974	0.0:1.0:0.0:0.0	.	.	.	.	X	502;444;502	.	ENSP00000345243:W502X	W	-	2	0	SIGLEC10	56610000	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	1.394000	0.34509	2.235000	0.73313	0.561000	0.74099	TGG		0.692	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		22	76	0	0	0	1	0	22	76				
DYRK3	8444	broad.mit.edu	37	1	206822161	206822161	+	Missense_Mutation	SNP	C	C	T	rs200713840		TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr1:206822161C>T	ENST00000367109.2	+	3	1786	c.1618C>T	c.(1618-1620)Cgg>Tgg	p.R540W	DYRK3_ENST00000367106.1_Missense_Mutation_p.R520W|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367108.3_Missense_Mutation_p.R520W	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	540					erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GTCAGGGAAACGGGTAGTTAA	0.493																																					Melanoma(164;427 2622 26826 51707)	ENST00000367106.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25						c.(1558-1560)Cgg>Tgg		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3							79.0	69.0	72.0					1																	206822161		2203	4300	6503	SO:0001583	missense	8444				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:206822161C>T	Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"""regulatory erythroid kinase"", ""dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5"", ""protein kinase Dyrk3"""	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.1618C>T	1.37:g.206822161C>T	ENSP00000356076:p.Arg540Trp					DYRK3_ENST00000367108.3_Missense_Mutation_p.R520W|DYRK3_ENST00000367109.2_Missense_Mutation_p.R540W|DYRK3_ENST00000489878.1_Intron	p.R520W			O43781	DYRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		4	2031	+	Breast(84;0.183)		540			Protein kinase.		D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Missense_Mutation	SNP	ENST00000367109.2	37	c.1558C>T	CCDS30999.1	.	.	.	.	.	.	.	.	.	.	C	9.679	1.148799	0.21288	.	.	ENSG00000143479	ENST00000367109;ENST00000367108;ENST00000367106	T;T;T	0.71222	-0.55;-0.55;-0.55	5.44	3.52	0.40303	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79958	0.4536	L	0.59436	1.845	0.53688	D	0.999979	D;D	0.89917	0.999;1.0	D;D	0.72625	0.917;0.978	T	0.80826	-0.1209	10	0.72032	D	0.01	.	12.7611	0.57365	0.5661:0.4338:0.0:0.0	.	540;520	O43781;O43781-2	DYRK3_HUMAN;.	W	540;520;520	ENSP00000356076:R540W;ENSP00000356075:R520W;ENSP00000356073:R520W	ENSP00000356073:R520W	R	+	1	2	DYRK3	204888784	0.997000	0.39634	0.928000	0.36995	0.054000	0.15201	0.730000	0.26043	0.809000	0.34255	0.650000	0.86243	CGG		0.493	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	NM_003582		8	42	0	0	0	1	0	8	42				
NFE2L2	4780	broad.mit.edu	37	2	178095964	178095964	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:178095964C>G	ENST00000397062.3	-	5	1921	c.1367G>C	c.(1366-1368)aGa>aCa	p.R456T	NFE2L2_ENST00000446151.2_Missense_Mutation_p.R433T|NFE2L2_ENST00000464747.1_Missense_Mutation_p.R440T|NFE2L2_ENST00000397063.4_Missense_Mutation_p.R440T	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	456					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AAGTTCATCTCTTGTGAGATG	0.438			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												ENST00000397062.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			"""NSCLC, HNSCC"""		0				central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158						c.(1366-1368)aGa>aCa		nuclear factor, erythroid 2-like 2							162.0	150.0	154.0					2																	178095964		1873	4114	5987	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178095964C>G		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.1367G>C	2.37:g.178095964C>G	ENSP00000380252:p.Arg456Thr	HNSCC(56;0.16)				NFE2L2_ENST00000464747.1_Missense_Mutation_p.R440T|NFE2L2_ENST00000446151.2_Missense_Mutation_p.R433T|NFE2L2_ENST00000397063.4_Missense_Mutation_p.R440T	p.R456T	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		5	1921	-			456					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.1367G>C	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698444	0.68386	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627	T;T;T;T	0.42513	1.31;1.29;1.32;0.97	6.04	5.17	0.71159	Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.67126	0.2860	M	0.89715	3.055	0.80722	D	1	D;D	0.59767	0.986;0.986	P;P	0.58660	0.843;0.78	T	0.76173	-0.3056	10	0.87932	D	0	-14.4737	15.3229	0.74135	0.0:0.9334:0.0:0.0666	.	433;456	E9PGJ7;Q16236	.;NF2L2_HUMAN	T	440;456;433;184	ENSP00000380253:R440T;ENSP00000380252:R456T;ENSP00000411575:R433T;ENSP00000391590:R184T	ENSP00000380252:R456T	R	-	2	0	NFE2L2	177804210	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	7.818000	0.86416	1.573000	0.49748	0.563000	0.77884	AGA		0.438	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		11	84	0	0	0	1	0	11	84				
FOXJ2	55810	broad.mit.edu	37	12	8196668	8196668	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr12:8196668C>G	ENST00000162391.3	+	5	1744	c.599C>G	c.(598-600)tCt>tGt	p.S200C	FOXJ2_ENST00000428177.2_Missense_Mutation_p.S200C	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	200					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	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)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		AGCCCCACATCTATAGCCAGC	0.537																																						ENST00000162391.3																			0				autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16						c.(598-600)tCt>tGt		forkhead box J2							63.0	64.0	64.0					12																	8196668		2203	4300	6503	SO:0001583	missense	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr12:8196668C>G	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.599C>G	12.37:g.8196668C>G	ENSP00000162391:p.Ser200Cys					FOXJ2_ENST00000428177.2_Missense_Mutation_p.S200C	p.S200C	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	5	1744	+			200					A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	ENST00000162391.3	37	c.599C>G	CCDS8587.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.199951	0.38905	.	.	ENSG00000065970	ENST00000162391;ENST00000428177	D;D	0.95412	-3.51;-3.7	5.2	5.2	0.72013	.	0.586524	0.16751	N	0.201014	D	0.93887	0.8044	L	0.39898	1.24	0.09310	N	1	B;B	0.31351	0.07;0.32	B;B	0.39562	0.112;0.303	D	0.89623	0.3850	10	0.62326	D	0.03	.	14.2724	0.66159	0.0:1.0:0.0:0.0	.	200;200	Q9P0K8;Q9P0K8-2	FOXJ2_HUMAN;.	C	200	ENSP00000162391:S200C;ENSP00000403411:S200C	ENSP00000162391:S200C	S	+	2	0	FOXJ2	8087935	0.037000	0.19845	0.179000	0.23059	0.427000	0.31564	3.443000	0.52907	2.423000	0.82170	0.561000	0.74099	TCT		0.537	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		13	112	0	0	0	1	0	13	112				
AHNAK2	113146	broad.mit.edu	37	14	105404671	105404671	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:105404671G>A	ENST00000333244.5	-	7	17236	c.17117C>T	c.(17116-17118)tCa>tTa	p.S5706L	AHNAK2_ENST00000557457.1_Missense_Mutation_p.S704L	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5706						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGTAGGAGATGAGGAGAACCC	0.473																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(17116-17118)tCa>tTa		AHNAK nucleoprotein 2							56.0	53.0	54.0					14																	105404671		1880	4112	5992	SO:0001583	missense	113146					nucleus		g.chr14:105404671G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.17117C>T	14.37:g.105404671G>A	ENSP00000353114:p.Ser5706Leu					AHNAK2_ENST00000557457.1_Missense_Mutation_p.S704L	p.S5706L	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	17236	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	5706					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.17117C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260052	0.59321	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.08634	3.3;3.07	5.12	5.12	0.69794	.	0.000000	0.42682	U	0.000676	T	0.24967	0.0606	L	0.55990	1.75	0.41425	D	0.987827	D	0.67145	0.996	D	0.66847	0.947	T	0.00487	-1.1710	10	0.51188	T	0.08	.	18.5576	0.91090	0.0:0.0:1.0:0.0	.	5706	Q8IVF2	AHNK2_HUMAN	L	704;5706	ENSP00000450998:S704L;ENSP00000353114:S5706L	ENSP00000353114:S5706L	S	-	2	0	AHNAK2	104475716	1.000000	0.71417	0.242000	0.24170	0.029000	0.11900	7.094000	0.76944	2.393000	0.81446	0.655000	0.94253	TCA		0.473	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		3	20	0	0	0	1	0	3	20				
ZNF318	24149	broad.mit.edu	37	6	43323362	43323362	+	Silent	SNP	C	C	G			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr6:43323362C>G	ENST00000361428.2	-	4	1787	c.1710G>C	c.(1708-1710)ctG>ctC	p.L570L	ZNF318_ENST00000318149.3_Silent_p.L570L	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	570					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTGAAGACGGCAGGGAGCTTG	0.473																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(1708-1710)ctG>ctC		zinc finger protein 318							101.0	107.0	105.0					6																	43323362		2203	4300	6503	SO:0001819	synonymous_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43323362C>G	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1710G>C	6.37:g.43323362C>G						ZNF318_ENST00000318149.3_Silent_p.L570L	p.L570L	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	1787	-			570					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Silent	SNP	ENST00000361428.2	37	c.1710G>C	CCDS4895.2																																																																																				0.473	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		32	67	0	0	0	1	0	32	67				
HOXA7	3204	broad.mit.edu	37	7	27195954	27195954	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr7:27195954C>T	ENST00000242159.3	-	1	344	c.211G>A	c.(211-213)Ggc>Agc	p.G71S	HOXA-AS3_ENST00000518947.2_RNA|RP1-170O19.21_ENST00000602610.1_lincRNA|HOXA7_ENST00000523796.2_5'Flank	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	71					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of monocyte differentiation (GO:0045656)|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)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						GCGCCCAGGCCGTAGCCGGAC	0.667																																						ENST00000242159.3																			0				endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						c.(211-213)Ggc>Agc		homeobox A7							28.0	37.0	34.0					7																	27195954		2203	4298	6501	SO:0001583	missense	3204				angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding	g.chr7:27195954C>T		CCDS5408.1	7p15.2	2011-06-20	2005-12-22		ENSG00000122592	ENSG00000122592		"""Homeoboxes / ANTP class : HOXL subclass"""	5108	protein-coding gene	gene with protein product		142950	"""homeo box A7"""	HOX1A, HOX1		1973146, 1358459	Standard	NM_006896		Approved		uc003sys.3	P31268	OTTHUMG00000023217	ENST00000242159.3:c.211G>A	7.37:g.27195954C>T	ENSP00000242159:p.Gly71Ser						p.G71S	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN			1	344	-			71					A4D191|O43368|O43486|O95655|Q9NSC8|Q9UDM1	Missense_Mutation	SNP	ENST00000242159.3	37	c.211G>A	CCDS5408.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.171725	0.38315	.	.	ENSG00000122592	ENST00000242159	T	0.38077	1.16	5.62	4.73	0.59995	.	0.173029	0.50627	D	0.000116	T	0.15782	0.0380	N	0.05124	-0.11	0.35116	D	0.766599	B	0.23442	0.085	B	0.14578	0.011	T	0.10590	-1.0623	10	0.45353	T	0.12	.	5.3575	0.16069	0.0:0.7273:0.0:0.2727	.	71	P31268	HXA7_HUMAN	S	71	ENSP00000242159:G71S	ENSP00000242159:G71S	G	-	1	0	HOXA7	27162479	1.000000	0.71417	1.000000	0.80357	0.437000	0.31866	2.975000	0.49281	2.656000	0.90262	0.561000	0.74099	GGC		0.667	HOXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358695.1			15	76	0	0	0	1	0	15	76				
AHNAK2	113146	broad.mit.edu	37	14	105420226	105420226	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:105420226G>C	ENST00000333244.5	-	7	1681	c.1562C>G	c.(1561-1563)tCa>tGa	p.S521*	AHNAK2_ENST00000557457.1_5'UTR	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	521						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACCCGCTTTTGAGGACGCATC	0.537																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(1561-1563)tCa>tGa		AHNAK nucleoprotein 2							97.0	103.0	101.0					14																	105420226		1992	4145	6137	SO:0001587	stop_gained	113146					nucleus		g.chr14:105420226G>C	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1562C>G	14.37:g.105420226G>C	ENSP00000353114:p.Ser521*					AHNAK2_ENST00000557457.1_5'UTR	p.S521*	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	1681	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	521					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Nonsense_Mutation	SNP	ENST00000333244.5	37	c.1562C>G	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	32	5.139078	0.94560	.	.	ENSG00000185567	ENST00000333244	.	.	.	4.34	-8.67	0.00863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	3.6036	0.08034	0.3077:0.3432:0.2662:0.0829	.	.	.	.	X	521	.	ENSP00000353114:S521X	S	-	2	0	AHNAK2	104491271	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.559000	0.05971	-1.586000	0.01632	-0.254000	0.11334	TCA		0.537	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		22	126	0	0	0	1	0	22	126				
ZNF282	8427	broad.mit.edu	37	7	148903853	148903853	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr7:148903853A>T	ENST00000262085.3	+	3	756	c.651A>T	c.(649-651)gaA>gaT	p.E217D	ZNF282_ENST00000479907.1_Missense_Mutation_p.E217D	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	217	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		ACTTGGACGAATGGCAGAAGG	0.483																																						ENST00000262085.3																			0				endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(649-651)gaA>gaT		zinc finger protein 282							274.0	226.0	242.0					7																	148903853		2203	4300	6503	SO:0001583	missense	8427				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148903853A>T	D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"""Zinc fingers, C2H2-type"", ""-"""	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.651A>T	7.37:g.148903853A>T	ENSP00000262085:p.Glu217Asp					ZNF282_ENST00000479907.1_Missense_Mutation_p.E217D	p.E217D	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)	3	756	+	Melanoma(164;0.15)		217			KRAB.		B4DRI5|O43691|Q6DKK0	Missense_Mutation	SNP	ENST00000262085.3	37	c.651A>T	CCDS5895.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.788464	0.49997	.	.	ENSG00000170265	ENST00000430197;ENST00000262085;ENST00000479907	T;T	0.01854	4.6;4.6	5.69	-5.05	0.02955	Krueppel-associated box (4);	0.000000	0.50627	D	0.000108	T	0.01421	0.0046	N	0.14661	0.345	0.28202	N	0.927322	B;P;P;P	0.48016	0.06;0.822;0.904;0.904	B;B;B;B	0.42738	0.125;0.396;0.396;0.396	T	0.43491	-0.9388	10	0.41790	T	0.15	-4.8243	10.0576	0.42255	0.3126:0.1204:0.567:0.0	.	217;168;189;217	B4DRI5;Q86YG2;Q7Z2V4;Q9UDV7	.;.;.;ZN282_HUMAN	D	132;217;217	ENSP00000262085:E217D;ENSP00000418840:E217D	ENSP00000262085:E217D	E	+	3	2	ZNF282	148534786	0.105000	0.21958	0.492000	0.27490	0.989000	0.77384	-0.902000	0.04088	-0.845000	0.04179	0.533000	0.62120	GAA		0.483	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	NM_003575		5	131	0	0	0	1	0	5	131				
IGHG2	3501	broad.mit.edu	37	14	106109690	106109690	+	RNA	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:106109690C>T	ENST00000390545.2	-	0	830							P01859	IGHG2_HUMAN	immunoglobulin heavy constant gamma 2 (G2m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CGTCGGAGTCCAGCATGGGAG	0.587																																						ENST00000390545.2																			0																				169.0	199.0	189.0					14																	106109690		2011	4192	6203			3501							g.chr14:106109690C>T	J00230		14q32.33	2012-10-02			ENSG00000211893	ENSG00000211893		"""Immunoglobulins / IGH locus"""	5526	other	immunoglobulin gene		147110					Standard	NG_001019		Approved			P01859	OTTHUMG00000152482		14.37:g.106109690C>T														0	830	-								A6NE66	RNA	SNP	ENST00000390545.2	37																																																																																						0.587	IGHG2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326391.1	NG_001019		34	403	0	0	0	1	0	34	403				
NKTR	4820	broad.mit.edu	37	3	42680826	42680826	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr3:42680826G>T	ENST00000232978.8	+	13	3818	c.3630G>T	c.(3628-3630)aaG>aaT	p.K1210N	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1210					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GTACCGGGAAGAAGGAGGTGG	0.522																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(3628-3630)aaG>aaT		natural killer-tumor recognition sequence							96.0	98.0	97.0					3																	42680826		2203	4300	6503	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42680826G>T		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.3630G>T	3.37:g.42680826G>T	ENSP00000232978:p.Lys1210Asn					RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	p.K1210N	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	3818	+			1210						Missense_Mutation	SNP	ENST00000232978.8	37	c.3630G>T	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.609165	0.46527	.	.	ENSG00000114857	ENST00000232978	D	0.82255	-1.59	5.22	3.33	0.38152	.	0.898963	0.09827	N	0.750702	D	0.85418	0.5692	M	0.76727	2.345	0.09310	N	0.999999	D;B	0.62365	0.991;0.002	P;B	0.53593	0.73;0.002	T	0.74797	-0.3543	10	0.87932	D	0	-5.0526	3.2034	0.06657	0.1341:0.1564:0.5491:0.1604	.	910;1210	Q6M1B8;P30414	.;NKTR_HUMAN	N	1210	ENSP00000232978:K1210N	ENSP00000232978:K1210N	K	+	3	2	NKTR	42655830	0.946000	0.32159	0.005000	0.12908	0.710000	0.40934	2.200000	0.42724	1.262000	0.44165	0.563000	0.77884	AAG		0.522	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		9	63	1	0	1.12685e-05	1	1.19485e-05	9	63				
ZSCAN16	80345	broad.mit.edu	37	6	28093443	28093443	+	Silent	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr6:28093443C>T	ENST00000340487.4	+	2	371	c.222C>T	c.(220-222)tgC>tgT	p.C74C	ZSCAN16-AS1_ENST00000600652.1_RNA|ZSCAN16-AS1_ENST00000602810.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	74	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GGCCAGAATGCCACACCAAGG	0.547																																						ENST00000340487.4																			0				large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(220-222)tgC>tgT		zinc finger and SCAN domain containing 16							138.0	130.0	133.0					6																	28093443		2203	4300	6503	SO:0001819	synonymous_variant	80345				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28093443C>T	AK025844	CCDS4644.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000196812	ENSG00000196812		"""-"", ""Zinc fingers, C2H2-type"""	20813	protein-coding gene	gene with protein product			"""zinc finger protein 392"", ""zinc finger protein 435"""	ZNF392, ZNF435			Standard	NM_025231		Approved	FLJ22191, dJ265C24.3	uc003nkm.3	Q9H4T2	OTTHUMG00000014509	ENST00000340487.4:c.222C>T	6.37:g.28093443C>T						RP1-265C24.9_ENST00000600652.1_RNA|RP1-265C24.9_ENST00000602810.1_RNA	p.C74C	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN			2	371	+			74			SCAN box.		Q9H6K2	Silent	SNP	ENST00000340487.4	37	c.222C>T	CCDS4644.1																																																																																				0.547	ZSCAN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040177.1	NM_025231		5	166	0	0	0	1	0	5	166				
POTEE	445582	broad.mit.edu	37	2	132021794	132021794	+	Silent	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:132021794C>T	ENST00000356920.5	+	15	2860	c.2766C>T	c.(2764-2766)gaC>gaT	p.D922D	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	922	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											TTGCCCTGGACTTCGAGCAGG	0.592																																						ENST00000356920.5																			0											c.(2764-2766)gaC>gaT		POTE ankyrin domain family, member E							109.0	121.0	117.0					2																	132021794		2202	4294	6496	SO:0001819	synonymous_variant	445582						ATP binding	g.chr2:132021794C>T	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2766C>T	2.37:g.132021794C>T						PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron	p.D922D	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			15	2860	+			922			Actin-like.		Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	ENST00000356920.5	37	c.2766C>T	CCDS46414.1																																																																																				0.592	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		28	302	0	0	0	1	0	28	302				
OR2L13	284521	broad.mit.edu	37	1	248263052	248263052	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr1:248263052C>G	ENST00000358120.2	+	2	520	c.375C>G	c.(373-375)atC>atG	p.I125M	OR2L13_ENST00000366478.2_Missense_Mutation_p.I125M			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			ATTTGGCCATCTGCCACTCTC	0.502																																						ENST00000366478.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59						c.(373-375)atC>atG		olfactory receptor, family 2, subfamily L, member 13							220.0	207.0	211.0					1																	248263052		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248263052C>G	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.375C>G	1.37:g.248263052C>G	ENSP00000350836:p.Ile125Met					OR2L13_ENST00000358120.2_Missense_Mutation_p.I125M	p.I125M	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	712	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		125					Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.375C>G	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.833452	0.32421	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.59083	0.29;0.29	4.31	0.119	0.14685	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000162	T	0.79569	0.4468	H	0.97440	4.005	0.25054	N	0.991119	D	0.76494	0.999	D	0.83275	0.996	T	0.68108	-0.5496	10	0.87932	D	0	.	5.5814	0.17252	0.1289:0.5682:0.0:0.3029	.	125	Q8N349	OR2LD_HUMAN	M	125	ENSP00000355434:I125M;ENSP00000350836:I125M	ENSP00000350836:I125M	I	+	3	3	OR2L13	246329675	0.012000	0.17670	0.909000	0.35828	0.344000	0.29017	-1.734000	0.01848	0.095000	0.17434	0.650000	0.86243	ATC		0.502	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		5	231	0	0	0	1	0	5	231				
LDB3	11155	broad.mit.edu	37	10	88459093	88459093	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr10:88459093C>T	ENST00000372066.3	+	8	893	c.814C>T	c.(814-816)Cat>Tat	p.H272Y	LDB3_ENST00000352360.5_Intron|LDB3_ENST00000310944.6_Missense_Mutation_p.H319Y|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000372056.4_Missense_Mutation_p.H387Y|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000429277.2_Intron	NM_001080116.1	NP_001073585.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CAACTGGCACCATGGCCTTTC	0.517																																						ENST00000372056.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						c.(1159-1161)Cat>Tat		LIM domain binding 3							151.0	160.0	157.0					10																	88459093		1911	4133	6044	SO:0001583	missense	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88459093C>T	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000372066.3:c.814C>T	10.37:g.88459093C>T	ENSP00000361136:p.His272Tyr					LDB3_ENST00000263066.6_Intron|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000310944.6_Missense_Mutation_p.H319Y|LDB3_ENST00000372066.3_Missense_Mutation_p.H272Y|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000429277.2_Intron	p.H387Y	NM_001171611.1	NP_001165082.1	O75112	LDB3_HUMAN			8	1182	+			0						Missense_Mutation	SNP	ENST00000372066.3	37	c.1159C>T	CCDS41545.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.460646	0.63513	.	.	ENSG00000122367	ENST00000372066;ENST00000372056;ENST00000310944	T;T;T	0.51817	0.83;0.69;0.94	5.23	5.23	0.72850	.	.	.	.	.	T	0.66086	0.2754	M	0.65498	2.005	0.80722	D	1	D;D;P	0.71674	0.991;0.998;0.886	P;P;P	0.61477	0.889;0.876;0.544	T	0.68941	-0.5276	9	0.87932	D	0	.	18.9964	0.92815	0.0:1.0:0.0:0.0	.	387;319;272	O75112-4;O75112-5;O75112-6	.;.;.	Y	272;387;319	ENSP00000361136:H272Y;ENSP00000361126:H387Y;ENSP00000311913:H319Y	ENSP00000311913:H319Y	H	+	1	0	LDB3	88449073	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.176000	0.65026	2.724000	0.93272	0.561000	0.74099	CAT		0.517	LDB3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049161.1			17	99	0	0	0	1	0	17	99				
SLIT2	9353	broad.mit.edu	37	4	20550730	20550730	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr4:20550730G>T	ENST00000504154.1	+	24	2720	c.2468G>T	c.(2467-2469)gGa>gTa	p.G823V	SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000273739.5_Missense_Mutation_p.G827V|SLIT2_ENST00000503837.1_Missense_Mutation_p.G819V|SLIT2_ENST00000503823.1_Missense_Mutation_p.G815V	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	823					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ACCTTTGATGGATTAAAGTCT	0.363																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(2467-2469)gGa>gTa		slit homolog 2 (Drosophila)							126.0	118.0	121.0					4																	20550730		2202	4300	6502	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20550730G>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2468G>T	4.37:g.20550730G>T	ENSP00000422591:p.Gly823Val					SLIT2_ENST00000503823.1_Missense_Mutation_p.G815V|SLIT2_ENST00000503837.1_Missense_Mutation_p.G819V|SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000273739.5_Missense_Mutation_p.G827V	p.G823V	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			24	2720	+			823					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.2468G>T	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.993757	0.93167	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508	T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.81389	0.4812	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.991;0.995	D	0.83595	0.0125	10	0.87932	D	0	.	20.3559	0.98840	0.0:0.0:1.0:0.0	.	815;823	O94813-3;O94813	.;SLIT2_HUMAN	V	815;823;827;819;819;24	ENSP00000427548:G815V;ENSP00000422591:G823V;ENSP00000273739:G827V;ENSP00000422261:G819V;ENSP00000421975:G24V	ENSP00000273739:G827V	G	+	2	0	SLIT2	20159828	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.781000	0.99029	2.890000	0.99128	0.585000	0.79938	GGA		0.363	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			6	19	1	0	8.12818e-05	1	8.4014e-05	6	19				
KCTD13	253980	broad.mit.edu	37	16	29918258	29918258	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr16:29918258G>A	ENST00000568000.1	-	6	1926	c.925C>T	c.(925-927)Cat>Tat	p.H309Y		NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	309					cell migration (GO:0016477)|DNA replication (GO:0006260)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)	GTP-Rho binding (GO:0017049)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						CGCCGGACATGGATCCTGCGG	0.637																																						ENST00000568000.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						c.(925-927)Cat>Tat		potassium channel tetramerization domain containing 13							128.0	118.0	121.0					16																	29918258		2197	4300	6497	SO:0001583	missense	253980				cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity	g.chr16:29918258G>A	AF289573	CCDS10661.1	16p11.2	2013-06-20	2013-06-20		ENSG00000174943	ENSG00000174943			22234	protein-coding gene	gene with protein product	"""polymerase delta-interacting protein 1"", ""TNFAIP1-like"""	608947	"""potassium channel tetramerisation domain containing 13"""			11593007	Standard	NM_178863		Approved	PDIP1, FKSG86, POLDIP1	uc002duv.4	Q8WZ19	OTTHUMG00000132120	ENST00000568000.1:c.925C>T	16.37:g.29918258G>A	ENSP00000455785:p.His309Tyr						p.H309Y	NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN			6	1926	-			309					A8K0R5|Q96P93|Q96SA1	Missense_Mutation	SNP	ENST00000568000.1	37	c.925C>T	CCDS10661.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374862	0.82573	.	.	ENSG00000174943	ENST00000308768	T	0.57595	0.39	5.2	5.2	0.72013	.	0.000000	0.52532	D	0.000072	T	0.70710	0.3255	M	0.62723	1.935	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	T	0.73877	-0.3844	10	0.87932	D	0	-1.8079	17.5094	0.87756	0.0:0.0:1.0:0.0	.	309	Q8WZ19	BACD1_HUMAN	Y	309	ENSP00000311202:H309Y	ENSP00000311202:H309Y	H	-	1	0	KCTD13	29825759	1.000000	0.71417	0.998000	0.56505	0.620000	0.37586	9.837000	0.99465	2.422000	0.82143	0.467000	0.42956	CAT		0.637	KCTD13-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255162.2	NM_178863		22	92	0	0	0	1	0	22	92				
USP16	10600	broad.mit.edu	37	21	30403060	30403060	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr21:30403060C>T	ENST00000334352.4	+	4	437	c.206C>T	c.(205-207)cCt>cTt	p.P69L	USP16_ENST00000535828.1_Intron|USP16_ENST00000399976.2_Missense_Mutation_p.P69L|USP16_ENST00000399975.3_Missense_Mutation_p.P69L	NM_001032410.1	NP_001027582.1			ubiquitin specific peptidase 16											breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						GAAGAAAAGCCTTCAGTTTGG	0.348																																					Melanoma(92;625 1444 27493 34101 44971)	ENST00000334352.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						c.(205-207)cCt>cTt		ubiquitin specific peptidase 16							114.0	107.0	109.0					21																	30403060		2203	4300	6503	SO:0001583	missense	10600				cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr21:30403060C>T	AF126736	CCDS13583.1, CCDS42912.1	21q21	2008-04-11	2005-08-08		ENSG00000156256	ENSG00000156256		"""Ubiquitin-specific peptidases"""	12614	protein-coding gene	gene with protein product		604735	"""ubiquitin specific protease 16"""			12838346	Standard	NM_006447		Approved	Ubp-M	uc002ymy.3	Q9Y5T5	OTTHUMG00000078802	ENST00000334352.4:c.206C>T	21.37:g.30403060C>T	ENSP00000334808:p.Pro69Leu					USP16_ENST00000399976.2_Missense_Mutation_p.P69L|USP16_ENST00000535828.1_Intron|USP16_ENST00000399975.3_Missense_Mutation_p.P69L	p.P69L	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN			4	437	+			69						Missense_Mutation	SNP	ENST00000334352.4	37	c.206C>T	CCDS13583.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.975919	0.74360	.	.	ENSG00000156256	ENST00000399975;ENST00000399976;ENST00000334352;ENST00000399973	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.15	5.15	0.70609	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (2);	0.210893	0.50627	D	0.000119	T	0.60676	0.2287	L	0.52759	1.655	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74348	0.978;0.979;0.983	T	0.62590	-0.6822	10	0.87932	D	0	.	18.8094	0.92052	0.0:1.0:0.0:0.0	.	55;69;69	Q9Y5T5-3;Q9Y5T5-2;Q9Y5T5	.;.;UBP16_HUMAN	L	69	ENSP00000382857:P69L;ENSP00000382858:P69L;ENSP00000334808:P69L;ENSP00000382855:P69L	ENSP00000334808:P69L	P	+	2	0	USP16	29324931	0.997000	0.39634	0.996000	0.52242	0.838000	0.47535	4.048000	0.57390	2.680000	0.91292	0.305000	0.20034	CCT		0.348	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171847.1			11	74	0	0	0	1	0	11	74				
PCDHB2	56133	broad.mit.edu	37	5	140474630	140474630	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr5:140474630T>A	ENST00000194155.4	+	1	404	c.256T>A	c.(256-258)Ttg>Atg	p.L86M		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	86	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACCGGGGATTTGTTGTTAAA	0.507																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(256-258)Ttg>Atg									69.0	75.0	73.0					5																	140474630		2203	4300	6503	SO:0001583	missense	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140474630T>A	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.256T>A	5.37:g.140474630T>A	ENSP00000194155:p.Leu86Met						p.L86M	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	404	+			86			Cadherin 1.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.256T>A	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	T	11.01	1.512226	0.27036	.	.	ENSG00000112852	ENST00000194155	T	0.56776	0.44	5.37	0.0039	0.14056	Cadherin, N-terminal (1);Cadherin (3);	.	.	.	.	T	0.74650	0.3744	H	0.95574	3.69	0.18873	N	0.999986	D	0.60575	0.988	D	0.68353	0.957	T	0.61153	-0.7120	9	0.72032	D	0.01	.	5.1565	0.15038	0.1319:0.3112:0.0:0.5569	.	86	Q9Y5E7	PCDB2_HUMAN	M	86	ENSP00000194155:L86M	ENSP00000194155:L86M	L	+	1	2	PCDHB2	140454814	0.000000	0.05858	0.681000	0.30009	0.057000	0.15508	-0.320000	0.08028	0.073000	0.16731	0.533000	0.62120	TTG		0.507	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		19	69	0	0	0	1	0	19	69				
MTMR4	9110	broad.mit.edu	37	17	56585544	56585544	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr17:56585544G>A	ENST00000323456.5	-	8	767	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	MTMR4_ENST00000579925.1_Missense_Mutation_p.R215W	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	215	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACGGGAATCCGCTTCCAGGAG	0.517																																						ENST00000323456.5																			0				breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(643-645)Cgg>Tgg		myotubularin related protein 4							68.0	64.0	65.0					17																	56585544		2203	4300	6503	SO:0001583	missense	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56585544G>A	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.643C>T	17.37:g.56585544G>A	ENSP00000325285:p.Arg215Trp					MTMR4_ENST00000579925.1_Missense_Mutation_p.R215W	p.R215W	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN			8	767	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		215			Myotubularin phosphatase.		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	c.643C>T	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607256	0.66558	.	.	ENSG00000108389	ENST00000323456	D	0.98192	-4.78	5.53	3.38	0.38709	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.99251	0.9739	H	0.97940	4.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98607	1.0661	10	0.87932	D	0	.	10.3672	0.44030	0.0:0.1198:0.6681:0.2121	.	215	Q9NYA4	MTMR4_HUMAN	W	215	ENSP00000325285:R215W	ENSP00000325285:R215W	R	-	1	2	MTMR4	53940543	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	3.069000	0.50026	1.467000	0.48044	-0.181000	0.13052	CGG		0.517	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		5	52	0	0	0	1	0	5	52				
EP300	2033	broad.mit.edu	37	22	41513816	41513816	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr22:41513816G>T	ENST00000263253.7	+	2	1939	c.720G>T	c.(718-720)caG>caT	p.Q240H		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	240					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GAGGCCCCCAGCCTCTTAAGG	0.502			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(718-720)caG>caT		E1A binding protein p300							37.0	34.0	35.0					22																	41513816		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41513816G>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.720G>T	22.37:g.41513816G>T	ENSP00000263253:p.Gln240His						p.Q240H	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			2	1939	+			240					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.720G>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775110	0.70107	.	.	ENSG00000100393	ENST00000263253	D	0.84589	-1.87	6.17	4.07	0.47477	.	0.000000	0.46145	D	0.000316	D	0.90940	0.7152	M	0.79123	2.44	0.41861	D	0.990227	D	0.76494	0.999	D	0.87578	0.998	D	0.89656	0.3873	10	0.26408	T	0.33	-6.0963	12.9762	0.58538	0.1312:0.0:0.8688:0.0	.	240	Q09472	EP300_HUMAN	H	240	ENSP00000263253:Q240H	ENSP00000263253:Q240H	Q	+	3	2	EP300	39843762	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.349000	0.44054	1.596000	0.50062	0.655000	0.94253	CAG		0.502	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		9	27	1	0	1.76689e-08	1	1.95791e-08	9	27				
SLC18A1	6570	broad.mit.edu	37	8	20005172	20005172	+	Silent	SNP	C	C	T	rs377170157		TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr8:20005172C>T	ENST00000276373.5	-	14	1538	c.1272G>A	c.(1270-1272)tcG>tcA	p.S424S	SLC18A1_ENST00000519026.1_Silent_p.S392S|SLC18A1_ENST00000381608.4_Silent_p.S424S|SLC18A1_ENST00000265808.7_Silent_p.S392S|SLC18A1_ENST00000440926.1_Silent_p.S424S|SLC18A1_ENST00000437980.1_Silent_p.S424S	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	424					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	TCCCATACACCGAGGTGTGGC	0.557																																						ENST00000440926.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1270-1272)tcG>tcA		solute carrier family 18 (vesicular monoamine transporter), member 1		C	,,,	0,4406		0,0,2203	108.0	96.0	100.0		1272,1176,1272,1272	-10.3	0.0	8		100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC18A1	NM_001135691.2,NM_001142324.1,NM_001142325.1,NM_003053.3	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	424/526,392/494,424/473,424/526	20005172	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6570				neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity	g.chr8:20005172C>T		CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"""Solute carriers"""	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.1272G>A	8.37:g.20005172C>T						SLC18A1_ENST00000519026.1_Silent_p.S392S|SLC18A1_ENST00000437980.1_Silent_p.S424S|SLC18A1_ENST00000276373.5_Silent_p.S424S|SLC18A1_ENST00000381608.4_Silent_p.S424S|SLC18A1_ENST00000265808.7_Silent_p.S392S	p.S424S	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN		Colorectal(74;0.0747)	15	1742	-			424					E9PDJ5|Q9BRE4	Silent	SNP	ENST00000276373.5	37	c.1272G>A	CCDS6013.1																																																																																				0.557	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1			6	26	0	0	0	1	0	6	26				
GNB4	59345	broad.mit.edu	37	3	179138709	179138709	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr3:179138709G>A	ENST00000232564.3	-	3	350	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	GNB4_ENST00000468623.1_Missense_Mutation_p.R22W	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	22					cell death (GO:0008219)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			CATGCTTTCCGAGCATCCTGA	0.299																																					Melanoma(105;1405 1491 7265 20440 33721)	ENST00000232564.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16						c.(64-66)Cgg>Tgg		guanine nucleotide binding protein (G protein), beta polypeptide 4							70.0	69.0	69.0					3																	179138709		2203	4297	6500	SO:0001583	missense	59345				cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity	g.chr3:179138709G>A	AF300648	CCDS3230.1	3q27.1	2013-01-10			ENSG00000114450	ENSG00000114450		"""WD repeat domain containing"""	20731	protein-coding gene	gene with protein product		610863				10644457, 11842130	Standard	NM_021629		Approved		uc003fjv.4	Q9HAV0	OTTHUMG00000157440	ENST00000232564.3:c.64C>T	3.37:g.179138709G>A	ENSP00000232564:p.Arg22Trp					GNB4_ENST00000468623.1_Missense_Mutation_p.R22W	p.R22W	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)		3	350	-	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		22					B3KMH5|D3DNR8	Missense_Mutation	SNP	ENST00000232564.3	37	c.64C>T	CCDS3230.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.773512	0.49786	.	.	ENSG00000114450	ENST00000232564;ENST00000468623;ENST00000497513	T;T;T	0.01369	4.97;4.97;4.97	4.66	2.22	0.28083	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.09555	0.0235	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	T	0.00433	-1.1742	10	0.87932	D	0	-10.3822	11.2239	0.48871	0.0:0.0:0.5125:0.4875	.	22	Q9HAV0	GBB4_HUMAN	W	22	ENSP00000232564:R22W;ENSP00000419693:R22W;ENSP00000420606:R22W	ENSP00000232564:R22W	R	-	1	2	GNB4	180621403	0.996000	0.38824	0.355000	0.25773	0.665000	0.39181	2.591000	0.46163	0.165000	0.19558	-0.485000	0.04761	CGG		0.299	GNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258218.1	NM_021629		5	17	0	0	0	1	0	5	17				
SIK2	23235	broad.mit.edu	37	11	111594274	111594274	+	Silent	SNP	T	T	C			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr11:111594274T>C	ENST00000304987.3	+	15	2375	c.2202T>C	c.(2200-2202)ttT>ttC	p.F734F		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	734					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						AGGCCTATTTTAATCAGATGC	0.502																																						ENST00000304987.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						c.(2200-2202)ttT>ttC		salt-inducible kinase 2							76.0	87.0	83.0					11																	111594274		2201	4297	6498	SO:0001819	synonymous_variant	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111594274T>C	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.2202T>C	11.37:g.111594274T>C							p.F734F	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN			15	2375	+			734					A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Silent	SNP	ENST00000304987.3	37	c.2202T>C	CCDS8347.1																																																																																				0.502	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		25	143	0	0	0	1	0	25	143				
AHNAK2	113146	broad.mit.edu	37	14	105406038	105406038	+	Silent	SNP	G	G	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:105406038G>T	ENST00000333244.5	-	7	15869	c.15750C>A	c.(15748-15750)ctC>ctA	p.L5250L	AHNAK2_ENST00000557457.1_Silent_p.L248L	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5250						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGCCTCTGGGAGCTGTAGGG	0.517																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(15748-15750)ctC>ctA		AHNAK nucleoprotein 2							188.0	204.0	199.0					14																	105406038		2063	4219	6282	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105406038G>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.15750C>A	14.37:g.105406038G>T						AHNAK2_ENST00000557457.1_Silent_p.L248L	p.L5250L	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	15869	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	5250					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.15750C>A	CCDS45177.1																																																																																				0.517	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		53	282	1	0	2.47907e-22	1	2.87665e-22	53	282				
ROS1	6098	broad.mit.edu	37	6	117650502	117650502	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr6:117650502G>A	ENST00000368508.3	-	32	5554	c.5356C>T	c.(5356-5358)Ctt>Ttt	p.L1786F	ROS1_ENST00000368507.3_Missense_Mutation_p.L1780F|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1786	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTTATCTCAAGGATATAGTAT	0.308			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(5356-5358)Ctt>Ttt		c-ros oncogene 1 , receptor tyrosine kinase							140.0	138.0	139.0					6																	117650502		2202	4299	6501	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117650502G>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.5356C>T	6.37:g.117650502G>A	ENSP00000357494:p.Leu1786Phe					ROS1_ENST00000368507.3_Missense_Mutation_p.L1780F|GOPC_ENST00000467125.1_Intron	p.L1786F	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	32	5554	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1786			Fibronectin type-III 9.		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.5356C>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.293291	0.60086	.	.	ENSG00000047936	ENST00000368508;ENST00000368507;ENST00000403284	T;T;T	0.60171	0.21;0.21;0.21	5.78	4.91	0.64330	.	0.000000	0.48767	D	0.000165	T	0.70378	0.3217	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.74822	-0.3534	10	0.72032	D	0.01	.	8.6004	0.33740	0.2145:0.0:0.7855:0.0	.	1786	P08922	ROS1_HUMAN	F	1786;1780;93	ENSP00000357494:L1786F;ENSP00000357493:L1780F;ENSP00000384647:L93F	ENSP00000357493:L1780F	L	-	1	0	ROS1	117757195	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	2.351000	0.44071	2.745000	0.94114	0.655000	0.94253	CTT		0.308	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			8	38	0	0	0	1	0	8	38				
MKRN3	7681	broad.mit.edu	37	15	23811019	23811019	+	Silent	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr15:23811019G>A	ENST00000314520.3	+	1	566	c.90G>A	c.(88-90)ccG>ccA	p.P30P	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Silent_p.P30P|MKRN3_ENST00000564592.1_Silent_p.P30P	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	30					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGTCTGGGCCGGACCTTCCCG	0.672																																						ENST00000314520.3																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(88-90)ccG>ccA		makorin ring finger protein 3							31.0	38.0	35.0					15																	23811019		2201	4299	6500	SO:0001819	synonymous_variant	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811019G>A	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.90G>A	15.37:g.23811019G>A						MKRN3_ENST00000568252.1_Silent_p.P30P|MKRN3_ENST00000564592.1_Silent_p.P30P	p.P30P	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	566	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	30						Silent	SNP	ENST00000314520.3	37	c.90G>A	CCDS10013.1																																																																																				0.672	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		11	32	0	0	0	1	0	11	32				
ARHGEF15	22899	broad.mit.edu	37	17	8222393	8222393	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr17:8222393C>T	ENST00000361926.3	+	13	2212	c.2102C>T	c.(2101-2103)cCa>cTa	p.P701L	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P701L|AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000582060.1_3'UTR	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	701					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GTTCCGGATCCATCTGGACCC	0.617																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(2101-2103)cCa>cTa		Rho guanine nucleotide exchange factor (GEF) 15							82.0	86.0	85.0					17																	8222393		2203	4300	6503	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8222393C>T	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.2102C>T	17.37:g.8222393C>T	ENSP00000355026:p.Pro701Leu					ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P701L|ARHGEF15_ENST00000582060.1_3'UTR	p.P701L	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			13	2212	+			701					A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.2102C>T	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	c	17.73	3.461667	0.63513	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	D;D	0.87729	-2.29;-2.29	5.04	5.04	0.67666	Pleckstrin homology-type (1);	0.264190	0.37906	N	0.001896	T	0.78786	0.4338	N	0.13235	0.315	0.49915	D	0.99983	P;P	0.52842	0.956;0.956	P;P	0.47299	0.543;0.543	T	0.76146	-0.3066	10	0.24483	T	0.36	-11.8575	10.879	0.46927	0.1876:0.8124:0.0:0.0	.	701;701	D3DTR7;O94989	.;ARHGF_HUMAN	L	701;491;701	ENSP00000355026:P701L;ENSP00000412505:P701L	ENSP00000355026:P701L	P	+	2	0	ARHGEF15	8163118	0.708000	0.27876	0.999000	0.59377	0.981000	0.71138	2.231000	0.43009	2.623000	0.88846	0.561000	0.74099	CCA		0.617	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		35	88	0	0	0	1	0	35	88				
MED12L	116931	broad.mit.edu	37	3	151067854	151067854	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr3:151067854C>G	ENST00000474524.1	+	15	2191	c.2153C>G	c.(2152-2154)tCt>tGt	p.S718C	MED12L_ENST00000273432.4_Missense_Mutation_p.S578C|MED12L_ENST00000491549.1_3'UTR|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	718						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGGATGAATCTTCAAGTCAT	0.448																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(2152-2154)tCt>tGt		mediator complex subunit 12-like							240.0	246.0	244.0					3																	151067854		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151067854C>G	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2153C>G	3.37:g.151067854C>G	ENSP00000417235:p.Ser718Cys					MED12L_ENST00000491549.1_3'UTR|P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.S578C	p.S718C	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		15	2191	+			718					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.2153C>G	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322647	0.81580	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.35048	1.33;1.33	5.81	5.81	0.92471	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.238841	0.44097	D	0.000495	T	0.64583	0.2611	M	0.78916	2.43	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.96;0.997	T	0.66594	-0.5884	10	0.87932	D	0	-18.7079	19.6841	0.95974	0.0:1.0:0.0:0.0	.	578;718	F8WAE6;Q86YW9	.;MD12L_HUMAN	C	718;578	ENSP00000417235:S718C;ENSP00000273432:S578C	ENSP00000273432:S578C	S	+	2	0	MED12L	152550544	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.704000	0.68347	2.752000	0.94435	0.557000	0.71058	TCT		0.448	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		70	231	0	0	0	1	0	70	231				
ESRP2	80004	broad.mit.edu	37	16	68265275	68265275	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr16:68265275C>T	ENST00000565858.1	-	12	1633	c.1547G>A	c.(1546-1548)cGg>cAg	p.R516Q	ESRP2_ENST00000473183.2_Missense_Mutation_p.R506Q|RP11-96D1.11_ENST00000571197.1_RNA	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	516	RRM 3.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						GCCCGATGGCCGGCCCTGTGC	0.542																																						ENST00000473183.2																			0				NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						c.(1516-1518)cGg>cAg		epithelial splicing regulatory protein 2							64.0	53.0	57.0					16																	68265275		2198	4299	6497	SO:0001583	missense	80004				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding	g.chr16:68265275C>T	AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"""RNA binding motif (RRM) containing"""	26152	protein-coding gene	gene with protein product		612960	"""RNA binding motif protein 35B"""	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.1547G>A	16.37:g.68265275C>T	ENSP00000454554:p.Arg516Gln					ESRP2_ENST00000565858.1_Missense_Mutation_p.R516Q	p.R506Q			Q9H6T0	ESRP2_HUMAN			12	2055	-			516			RRM 3.		Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	ENST00000565858.1	37	c.1517G>A		.	.	.	.	.	.	.	.	.	.	C	22.5	4.295016	0.81025	.	.	ENSG00000103067	ENST00000473183	T	0.10860	2.83	5.79	5.79	0.91817	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.29684	0.0741	L	0.54323	1.7	0.80722	D	1	D;P	0.89917	1.0;0.867	D;B	0.79784	0.993;0.335	T	0.00451	-1.1731	10	0.22706	T	0.39	-21.2594	20.0368	0.97565	0.0:1.0:0.0:0.0	.	516;506	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	Q	506	ENSP00000418748:R506Q	ENSP00000418748:R506Q	R	-	2	0	ESRP2	66822776	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.770000	0.85390	2.735000	0.93741	0.563000	0.77884	CGG		0.542	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1	NM_024939		4	38	0	0	0	1	0	4	38				
LRP1B	53353	broad.mit.edu	37	2	140990816	140990816	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:140990816T>G	ENST00000389484.3	-	91	14710	c.13739A>C	c.(13738-13740)gAt>gCt	p.D4580A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4580					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTCCTTTCATCAACACTTCC	0.318										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(13738-13740)gAt>gCt		low density lipoprotein receptor-related protein 1B							100.0	102.0	101.0					2																	140990816		2201	4300	6501	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:140990816T>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13739A>C	2.37:g.140990816T>G	ENSP00000374135:p.Asp4580Ala	TSP Lung(27;0.18)					p.D4580A	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	91	14710	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4580					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.13739A>C	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.26|18.26	3.584439|3.584439	0.65992|0.65992	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	T|.	0.55413|.	0.52|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.000000|.	0.64402|.	U|.	0.000001|.	T|T	0.69593|0.69593	0.3128|0.3128	L|L	0.54323|0.54323	1.7|1.7	0.51012|0.51012	D|D	0.999905|0.999905	P|.	0.52316|.	0.952|.	P|.	0.44422|.	0.449|.	T|T	0.67581|0.67581	-0.5634|-0.5634	10|5	0.87932|.	D|.	0|.	.|.	15.9456|15.9456	0.79789|0.79789	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	4580|.	Q9NZR2|.	LRP1B_HUMAN|.	A|L	4580;4518|779	ENSP00000374135:D4580A|.	ENSP00000374135:D4580A|.	D|M	-|-	2|1	0|0	LRP1B|LRP1B	140707286|140707286	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.698000|7.698000	0.84413|0.84413	2.167000|2.167000	0.68274|0.68274	0.477000|0.477000	0.44152|0.44152	GAT|ATG		0.318	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		6	21	0	0	0	1	0	6	21				
DGKK	139189	broad.mit.edu	37	X	50213406	50213406	+	RNA	SNP	G	G	C			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chrX:50213406G>C	ENST00000376025.2	-	0	331							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ggccggttctgaggccggctc	0.647																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							75.0	88.0	84.0					X																	50213406		1837	4067	5904			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50213406G>C	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50213406G>C										Q5KSL6	DGKK_HUMAN			0	331	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.647	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		54	215	0	0	0	1	0	54	215				
SLC5A7	60482	broad.mit.edu	37	2	108627019	108627019	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:108627019T>A	ENST00000264047.2	+	9	1721	c.1445T>A	c.(1444-1446)cTt>cAt	p.L482H	SLC5A7_ENST00000540517.1_Missense_Mutation_p.L377H|SLC5A7_ENST00000409059.1_Missense_Mutation_p.L482H	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	482					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTTAAAACACTTGCCATGGTT	0.373																																						ENST00000264047.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1444-1446)cTt>cAt		solute carrier family 5 (sodium/choline cotransporter), member 7	Choline(DB00122)						100.0	99.0	99.0					2																	108627019		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108627019T>A	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1445T>A	2.37:g.108627019T>A	ENSP00000264047:p.Leu482His					SLC5A7_ENST00000540517.1_Missense_Mutation_p.L377H|SLC5A7_ENST00000409059.1_Missense_Mutation_p.L482H	p.L482H	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN			9	1721	+			482					Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.1445T>A	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	T	13.99	2.400523	0.42613	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.93307	-2.94;-3.2;-2.94	5.95	5.95	0.96441	.	0.308831	0.35739	N	0.003010	D	0.94195	0.8137	M	0.79693	2.465	0.21697	N	0.999581	P	0.45531	0.86	B	0.43990	0.438	D	0.90344	0.4361	10	0.72032	D	0.01	-10.4731	16.4323	0.83853	0.0:0.0:0.0:1.0	.	482	Q9GZV3	SC5A7_HUMAN	H	482;377;482	ENSP00000387346:L482H;ENSP00000445351:L377H;ENSP00000264047:L482H	ENSP00000264047:L482H	L	+	2	0	SLC5A7	107993451	0.966000	0.33281	0.023000	0.16930	0.359000	0.29487	6.258000	0.72487	2.281000	0.76405	0.528000	0.53228	CTT		0.373	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			6	69	0	0	0	1	0	6	69				
EDAR	10913	broad.mit.edu	37	2	109539885	109539885	+	Silent	SNP	C	C	G			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:109539885C>G	ENST00000258443.2	-	5	811	c.381G>C	c.(379-381)ccG>ccC	p.P127P	EDAR_ENST00000409271.1_Silent_p.P127P|EDAR_ENST00000376651.1_Silent_p.P127P	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	127					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						AGATGTTCCTCGGTCTGTTCT	0.547																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(379-381)ccG>ccC		ectodysplasin A receptor							157.0	130.0	139.0					2																	109539885		2203	4300	6503	SO:0001819	synonymous_variant	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109539885C>G	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.381G>C	2.37:g.109539885C>G						EDAR_ENST00000376651.1_Silent_p.P127P|EDAR_ENST00000258443.2_Silent_p.P127P	p.P127P			Q9UNE0	EDAR_HUMAN			6	824	-			127					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Silent	SNP	ENST00000258443.2	37	c.381G>C	CCDS2081.1																																																																																				0.547	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			8	114	0	0	0	1	0	8	114				
IGSF21	84966	broad.mit.edu	37	1	18554484	18554484	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr1:18554484C>T	ENST00000251296.1	+	2	546	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	55	Ig-like 1.					extracellular region (GO:0005576)		p.R55W(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		TGGGCGCATGCGGGAGATCGT	0.572																																						ENST00000251296.1																			1	Substitution - Missense(1)	p.R55W(1)	endometrium(1)	endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40						c.(163-165)Cgg>Tgg		immunoglobin superfamily, member 21							154.0	119.0	131.0					1																	18554484		2203	4300	6503	SO:0001583	missense	84966					extracellular region		g.chr1:18554484C>T	AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.163C>T	1.37:g.18554484C>T	ENSP00000251296:p.Arg55Trp						p.R55W	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)	2	546	+		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	55			Ig-like 1.		Q8NBR8	Missense_Mutation	SNP	ENST00000251296.1	37	c.163C>T	CCDS184.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865106	0.91511	.	.	ENSG00000117154	ENST00000251296	T	0.65916	-0.18	5.28	5.28	0.74379	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.71745	0.3376	L	0.44542	1.39	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.69982	-0.4997	10	0.38643	T	0.18	-4.4667	14.4521	0.67392	0.0:1.0:0.0:0.0	.	55	Q96ID5	IGS21_HUMAN	W	55	ENSP00000251296:R55W	ENSP00000251296:R55W	R	+	1	2	IGSF21	18427071	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.084000	0.64462	2.473000	0.83533	0.561000	0.74099	CGG		0.572	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		9	62	0	0	0	1	0	9	62				
C2orf61	285051	broad.mit.edu	37	2	47378589	47378589	+	Silent	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:47378589C>T	ENST00000445927.2	-	3	333	c.207G>A	c.(205-207)gtG>gtA	p.V69V	RP11-761B3.1_ENST00000422269.1_3'UTR|C2orf61_ENST00000294947.2_Silent_p.V69V	NM_001163561.1	NP_001157033.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	69								p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			AGGTTGCTATCACTGGATTTA	0.373																																						ENST00000294947.2																			2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	endometrium(1)|kidney(1)|lung(2)	4						c.(205-207)gtG>gtA		chromosome 2 open reading frame 61							148.0	143.0	145.0					2																	47378589		2203	4300	6503	SO:0001819	synonymous_variant	285051							g.chr2:47378589C>T	AK097491	CCDS1831.1, CCDS54356.1	2p21	2008-02-05			ENSG00000239605	ENSG00000239605			26850	protein-coding gene	gene with protein product							Standard	NM_173649		Approved	FLJ40172	uc010yog.2	Q8N801	OTTHUMG00000128851	ENST00000445927.2:c.207G>A	2.37:g.47378589C>T						C2orf61_ENST00000445927.2_Silent_p.V69V|CALM2_ENST00000422269.1_5'UTR	p.V69V	NM_173649.2	NP_775920.1	Q8N801	CB061_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		3	242	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	69					H7C2Z2	Silent	SNP	ENST00000445927.2	37	c.207G>A	CCDS54356.1																																																																																				0.373	C2orf61-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173649		36	94	0	0	0	1	0	36	94				
AHNAK2	113146	broad.mit.edu	37	14	105410723	105410723	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:105410723G>A	ENST00000333244.5	-	7	11184	c.11065C>T	c.(11065-11067)Cag>Tag	p.Q3689*	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3689						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAAGGGGGCTGAATGCTGAGG	0.642																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(11065-11067)Cag>Tag		AHNAK nucleoprotein 2							122.0	129.0	127.0					14																	105410723		1916	4115	6031	SO:0001587	stop_gained	113146					nucleus		g.chr14:105410723G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11065C>T	14.37:g.105410723G>A	ENSP00000353114:p.Gln3689*					AHNAK2_ENST00000557457.1_Intron	p.Q3689*	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	11184	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3689					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Nonsense_Mutation	SNP	ENST00000333244.5	37	c.11065C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	51	18.342702	0.99903	.	.	ENSG00000185567	ENST00000333244	.	.	.	3.62	-1.27	0.09347	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7454	0.69488	0.0:0.7534:0.2465:0.0	.	.	.	.	X	3689	.	ENSP00000353114:Q3689X	Q	-	1	0	AHNAK2	104481768	0.790000	0.28787	0.000000	0.03702	0.018000	0.09664	0.923000	0.28757	-0.089000	0.12484	0.491000	0.48974	CAG		0.642	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		30	264	0	0	0	1	0	30	264				
SMG8	55181	broad.mit.edu	37	17	57288115	57288115	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr17:57288115C>T	ENST00000543872.2	+	2	967	c.703C>T	c.(703-705)Cag>Tag	p.Q235*	SMG8_ENST00000578922.1_Nonsense_Mutation_p.Q235*|SMG8_ENST00000300917.5_Nonsense_Mutation_p.Q235*|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000580498.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	235					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TGGGCTGAGACAGAAGGTCCT	0.473																																						ENST00000543872.2																			0				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						c.(703-705)Cag>Tag		SMG8 nonsense mediated mRNA decay factor							68.0	70.0	69.0					17																	57288115		2203	4300	6503	SO:0001587	stop_gained	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57288115C>T	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.703C>T	17.37:g.57288115C>T	ENSP00000438748:p.Gln235*					CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Nonsense_Mutation_p.Q235*|SMG8_ENST00000578922.1_Nonsense_Mutation_p.Q235*|SMG8_ENST00000580498.1_Intron	p.Q235*			Q8ND04	SMG8_HUMAN			2	967	+			235					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Nonsense_Mutation	SNP	ENST00000543872.2	37	c.703C>T	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	C	38	6.834151	0.97873	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	.	.	.	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-12.6154	19.4659	0.94939	0.0:1.0:0.0:0.0	.	.	.	.	X	235	.	ENSP00000300917:Q235X	Q	+	1	0	SMG8	54642897	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.840000	0.97914	0.655000	0.94253	CAG		0.473	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		7	61	0	0	0	1	0	7	61				
PDK4	5166	broad.mit.edu	37	7	95218960	95218960	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr7:95218960G>T	ENST00000005178.5	-	7	960	c.763C>A	c.(763-765)Cta>Ata	p.L255I		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	255	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			ACCTTAAATAGTTCAAAGAGC	0.284																																						ENST00000005178.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(763-765)Cta>Ata		pyruvate dehydrogenase kinase, isozyme 4							92.0	103.0	99.0					7																	95218960		2203	4298	6501	SO:0001583	missense	5166				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr7:95218960G>T	U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"""pyruvate dehydrogenase kinase, isoenzyme 4"""			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.763C>A	7.37:g.95218960G>T	ENSP00000005178:p.Leu255Ile						p.L255I	NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		7	960	-	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		255			Histidine kinase.			Missense_Mutation	SNP	ENST00000005178.5	37	c.763C>A	CCDS5643.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.748038	0.49257	.	.	ENSG00000004799	ENST00000005178;ENST00000542888	T	0.64085	-0.08	5.59	1.85	0.25348	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	T	0.78091	0.4229	M	0.85542	2.76	0.80722	D	1	D	0.55172	0.97	D	0.79784	0.993	T	0.77143	-0.2696	10	0.59425	D	0.04	.	10.4247	0.44371	0.2561:0.0:0.7439:0.0	.	255	Q16654	PDK4_HUMAN	I	255;219	ENSP00000005178:L255I	ENSP00000005178:L255I	L	-	1	2	PDK4	95056896	1.000000	0.71417	0.983000	0.44433	0.202000	0.24057	4.034000	0.57289	0.135000	0.18707	-0.136000	0.14681	CTA		0.284	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333298.1	NM_002612		4	103	1	0	0.014758	1	0.014879	4	103				
UBR7	55148	broad.mit.edu	37	14	93685022	93685022	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:93685022G>A	ENST00000013070.6	+	7	987	c.751G>A	c.(751-753)Gtt>Att	p.V251I	UBR7_ENST00000416753.1_Missense_Mutation_p.V175I	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	251							ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						TGTCCGGGAGGTTAAAGTAGA	0.448																																						ENST00000013070.6																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						c.(751-753)Gtt>Att		ubiquitin protein ligase E3 component n-recognin 7 (putative)							100.0	93.0	96.0					14																	93685022		2203	4300	6503	SO:0001583	missense	55148						ubiquitin-protein ligase activity|zinc ion binding	g.chr14:93685022G>A	AK001345	CCDS9909.1	14q32.12	2008-06-23	2008-06-23	2008-06-23		ENSG00000012963		"""Ubiquitin protein ligase E3 component n-recognins"""	20344	protein-coding gene	gene with protein product		613816	"""chromosome 14 open reading frame 130"""	C14orf130		18162545	Standard	NM_175748		Approved		uc001ybm.4	Q8N806		ENST00000013070.6:c.751G>A	14.37:g.93685022G>A	ENSP00000013070:p.Val251Ile					UBR7_ENST00000416753.1_Missense_Mutation_p.V175I	p.V251I	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN			7	987	+			251					Q86U21|Q86UA9|Q96BY0|Q9NVV6	Missense_Mutation	SNP	ENST00000013070.6	37	c.751G>A	CCDS9909.1	.	.	.	.	.	.	.	.	.	.	G	7.283	0.609531	0.14066	.	.	ENSG00000012963	ENST00000013070;ENST00000535646;ENST00000416753	T;T	0.77229	-1.07;-1.08	5.9	1.03	0.20045	.	1.658840	0.02869	N	0.131262	T	0.71685	0.3369	L	0.47716	1.5	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.51092	-0.8749	10	0.34782	T	0.22	-0.8043	7.1596	0.25657	0.2872:0.132:0.5807:0.0	.	175;251	E9PCJ7;Q8N806	.;UBR7_HUMAN	I	251;175;175	ENSP00000013070:V251I;ENSP00000391706:V175I	ENSP00000013070:V251I	V	+	1	0	UBR7	92754775	0.000000	0.05858	0.000000	0.03702	0.146000	0.21551	0.520000	0.22878	0.296000	0.22592	0.650000	0.86243	GTT		0.448	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412693.1	NM_175748		19	64	0	0	0	1	0	19	64				
GRIP1	23426	broad.mit.edu	37	12	66935717	66935717	+	Silent	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr12:66935717G>A	ENST00000398016.3	-	3	218	c.150C>T	c.(148-150)ggC>ggT	p.G50G	GRIP1_ENST00000286445.7_Silent_p.G50G|GRIP1_ENST00000359742.4_Silent_p.G50G	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CGACTGTGGAGCCCTTGAATT	0.438																																						ENST00000359742.4																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(148-150)ggC>ggT		glutamate receptor interacting protein 1							197.0	191.0	193.0					12																	66935717		1883	4104	5987	SO:0001819	synonymous_variant	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66935717G>A	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.150C>T	12.37:g.66935717G>A						GRIP1_ENST00000398016.3_Silent_p.G50G|GRIP1_ENST00000286445.7_Silent_p.G50G	p.G50G			Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	3	390	-			50					B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Silent	SNP	ENST00000398016.3	37	c.150C>T	CCDS41807.1																																																																																				0.438	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			32	624	0	0	0	1	0	32	624				
EPS15	2060	broad.mit.edu	37	1	51829572	51829572	+	Silent	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr1:51829572G>A	ENST00000371733.3	-	23	2421	c.2325C>T	c.(2323-2325)atC>atT	p.I775I	EPS15_ENST00000371730.2_Silent_p.I641I|EPS15_ENST00000396122.4_Silent_p.I452I	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	775	15 X 3 AA repeats of D-P-F.|Pro-rich.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TTGGAGTTCCGATCTTTGGTG	0.453			T	MLL	ALL																																	ENST00000371733.3				Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		2	Whole gene deletion(2)	p.0?(2)	thyroid(1)|central_nervous_system(1)	endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						c.(2323-2325)atC>atT		epidermal growth factor receptor pathway substrate 15							210.0	189.0	196.0					1																	51829572		2203	4300	6503	SO:0001819	synonymous_variant	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51829572G>A	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.2325C>T	1.37:g.51829572G>A						EPS15_ENST00000396122.4_Silent_p.I452I|EPS15_ENST00000371730.2_Silent_p.I641I	p.I775I	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN			23	2421	-			775			15 X 3 AA repeats of D-P-F.|Pro-rich.		B2R8J7|D3DPJ2|Q5SRH4	Silent	SNP	ENST00000371733.3	37	c.2325C>T	CCDS557.1																																																																																				0.453	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		11	50	0	0	0	1	0	11	50				
COL27A1	85301	broad.mit.edu	37	9	117005797	117005797	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr9:117005797G>A	ENST00000356083.3	+	23	3282	c.2891G>A	c.(2890-2892)gGc>gAc	p.G964D		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	964	Collagen-like 6.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGTCAGCCTGGCAGGAAGGGG	0.622																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(2890-2892)gGc>gAc		collagen, type XXVII, alpha 1							40.0	41.0	41.0					9																	117005797		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117005797G>A	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2891G>A	9.37:g.117005797G>A	ENSP00000348385:p.Gly964Asp						p.G964D	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			23	3282	+			964			Collagen-like 6.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.2891G>A	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661067	0.67700	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.99532	-6.1	5.66	5.66	0.87406	.	.	.	.	.	D	0.99771	0.9906	H	0.97077	3.935	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.97210	0.9870	9	0.87932	D	0	.	15.2536	0.73568	0.0:0.0:1.0:0.0	.	964	Q8IZC6	CORA1_HUMAN	D	964	ENSP00000348385:G964D	ENSP00000348385:G964D	G	+	2	0	COL27A1	116045618	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.346000	0.72999	2.673000	0.90976	0.650000	0.86243	GGC		0.622	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		16	23	0	0	0	1	0	16	23				
KREMEN2	79412	broad.mit.edu	37	16	3016751	3016751	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr16:3016751C>T	ENST00000303746.5	+	5	1172	c.595C>T	c.(595-597)Cct>Tct	p.P199S	PAQR4_ENST00000572687.1_5'Flank|PAQR4_ENST00000576565.1_5'Flank|KREMEN2_ENST00000575769.1_Missense_Mutation_p.P199S|PKMYT1_ENST00000571102.1_5'Flank|KREMEN2_ENST00000319500.6_Missense_Mutation_p.P199S|PAQR4_ENST00000318782.8_5'Flank|PAQR4_ENST00000293978.8_5'Flank|KREMEN2_ENST00000575885.1_Intron|KREMEN2_ENST00000571007.1_Intron|KREMEN2_ENST00000572045.1_Missense_Mutation_p.P199S			Q8NCW0	KREM2_HUMAN	kringle containing transmembrane protein 2	199	WSC. {ECO:0000255|PROSITE- ProRule:PRU00558, ECO:0000305}.			Missing (in Ref. 2; BAC11365). {ECO:0000305}.	Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						TTTCGGCCACCCTGGACAGCT	0.711																																						ENST00000572045.1																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						c.(595-597)Cct>Tct		kringle containing transmembrane protein 2							18.0	24.0	22.0					16																	3016751		2191	4296	6487	SO:0001583	missense	79412				Wnt receptor signaling pathway	integral to membrane		g.chr16:3016751C>T	BC003533	CCDS10483.1, CCDS10484.1, CCDS58412.1, CCDS58413.1	16p13.11	2008-08-04			ENSG00000131650	ENSG00000131650			18797	protein-coding gene	gene with protein product		609899				12050670	Standard	NM_172229		Approved	MGC10791, KRM2	uc002csg.3	Q8NCW0	OTTHUMG00000128976	ENST00000303746.5:c.595C>T	16.37:g.3016751C>T	ENSP00000304422:p.Pro199Ser					KREMEN2_ENST00000575769.1_Missense_Mutation_p.P199S|KREMEN2_ENST00000575885.1_Intron|KREMEN2_ENST00000571007.1_Intron|KREMEN2_ENST00000319500.6_Missense_Mutation_p.P199S|KREMEN2_ENST00000303746.5_Missense_Mutation_p.P199S	p.P199S	NM_172229.2	NP_757384.1	Q8NCW0	KREM2_HUMAN			5	900	+			199	Missing (in Ref. 2; BAC11365).		WSC.		B4DXF6|I3L2S2|Q8N2J4|Q8NCW1|Q96GL8|Q9BTP9	Missense_Mutation	SNP	ENST00000303746.5	37	c.595C>T	CCDS10483.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.644447	0.29246	.	.	ENSG00000131650	ENST00000303746;ENST00000319500	T;T	0.53206	0.63;0.63	4.81	4.81	0.61882	Carbohydrate-binding WSC (2);	0.160789	0.29145	N	0.013008	T	0.35189	0.0923	N	0.16037	0.36	0.37979	D	0.933542	P;P;P;P	0.42078	0.728;0.728;0.728;0.77	B;B;B;P	0.46144	0.372;0.372;0.372;0.505	T	0.16041	-1.0416	10	0.07030	T	0.85	.	15.4305	0.75092	0.0:1.0:0.0:0.0	.	199;199;199;199	Q8NCW0-2;Q8NCW0-4;Q8NCW0-3;Q8NCW0	.;.;.;KREM2_HUMAN	S	199	ENSP00000304422:P199S;ENSP00000322079:P199S	ENSP00000304422:P199S	P	+	1	0	KREMEN2	2956752	1.000000	0.71417	0.995000	0.50966	0.502000	0.33828	2.422000	0.44696	2.216000	0.71823	0.456000	0.33151	CCT		0.711	KREMEN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250964.2	NM_145347		7	25	0	0	0	1	0	7	25				
SEC16A	9919	broad.mit.edu	37	9	139355672	139355672	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr9:139355672C>T	ENST00000371706.3	-	11	4447	c.4414G>A	c.(4414-4416)Gca>Aca	p.A1472T	SEC16A_ENST00000290037.6_Missense_Mutation_p.A1472T|SEC16A_ENST00000313050.7_Missense_Mutation_p.A1650T|SEC16A_ENST00000431893.2_Missense_Mutation_p.A1472T			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1472					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ATCTTACTTGCAAGTAGCAGA	0.592																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(4948-4950)Gca>Aca		SEC16 homolog A (S. cerevisiae)							71.0	76.0	74.0					9																	139355672		2116	4232	6348	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139355672C>T	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.4414G>A	9.37:g.139355672C>T	ENSP00000360771:p.Ala1472Thr					SEC16A_ENST00000371706.3_Missense_Mutation_p.A1472T|SEC16A_ENST00000431893.2_Missense_Mutation_p.A1472T|SEC16A_ENST00000290037.6_Missense_Mutation_p.A1472T	p.A1650T	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	11	5021	-		Myeloproliferative disorder(178;0.0511)	1472					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.4948G>A		.	.	.	.	.	.	.	.	.	.	C	21.0	4.076217	0.76415	.	.	ENSG00000148396	ENST00000313050;ENST00000277537;ENST00000453963;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T;T;T	0.65549	0.78;-0.16;0.41;0.77;0.78;0.79	5.23	4.32	0.51571	.	0.052508	0.85682	D	0.000000	T	0.79759	0.4501	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	0.983;0.999;0.998;1.0	T	0.83324	-0.0016	10	0.87932	D	0	-22.1964	15.1939	0.73071	0.0:0.8585:0.1415:0.0	.	1650;1472;1472;1040	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	T	1650;44;372;1472;1472;1472;1040	ENSP00000325827:A1650T;ENSP00000277537:A44T;ENSP00000403525:A372T;ENSP00000360771:A1472T;ENSP00000290037:A1472T;ENSP00000387583:A1472T	ENSP00000277537:A44T	A	-	1	0	SEC16A	138475493	1.000000	0.71417	0.040000	0.18447	0.522000	0.34438	7.479000	0.81095	1.316000	0.45131	0.561000	0.74099	GCA		0.592	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		5	9	0	0	0	1	0	5	9				
KIAA1109	84162	broad.mit.edu	37	4	123227048	123227048	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr4:123227048G>T	ENST00000264501.4	+	57	10062	c.9689G>T	c.(9688-9690)gGt>gTt	p.G3230V	KIAA1109_ENST00000388738.3_Missense_Mutation_p.G3230V|KIAA1109_ENST00000455637.1_Missense_Mutation_p.G3230V			Q2LD37	K1109_HUMAN	KIAA1109	3230					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GAGGAAGCTGGTTCTGATTTT	0.299																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(9688-9690)gGt>gTt		KIAA1109							53.0	51.0	51.0					4																	123227048		1788	4058	5846	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123227048G>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.9689G>T	4.37:g.123227048G>T	ENSP00000264501:p.Gly3230Val					KIAA1109_ENST00000388738.3_Missense_Mutation_p.G3230V|KIAA1109_ENST00000455637.1_Missense_Mutation_p.G3230V	p.G3230V			Q2LD37	K1109_HUMAN			57	10062	+			3230					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.9689G>T	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.89|18.89	3.718595|3.718595	0.68844|0.68844	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000419325	T;T;T|.	0.29397|.	1.57;1.57;1.57|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56171|0.56171	0.1967|0.1967	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	P;P|.	0.48503|.	0.748;0.911|.	B;B|.	0.42282|.	0.319;0.382|.	T|T	0.50311|0.50311	-0.8843|-0.8843	10|5	0.54805|.	T|.	0.06|.	.|.	19.3521|19.3521	0.94393|0.94393	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3230;3230|.	Q2LD37-6;Q2LD37|.	.;K1109_HUMAN|.	V|C	3230|1187	ENSP00000264501:G3230V;ENSP00000373390:G3230V;ENSP00000389925:G3230V|.	ENSP00000264501:G3230V|.	G|W	+|+	2|3	0|0	KIAA1109|KIAA1109	123446498|123446498	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.939000|0.939000	0.58152|0.58152	7.713000|7.713000	0.84693|0.84693	2.588000|2.588000	0.87417|0.87417	0.655000|0.655000	0.94253|0.94253	GGT|TGG		0.299	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		4	27	1	0	0.00024832	1	0.000254528	4	27				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			96610							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	18	0	0	0	1	0	3	18				
MFSD3	113655	broad.mit.edu	37	8	145737553	145737553	+	IGR	SNP	C	C	T	rs539631209		TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr8:145737553C>T	ENST00000301327.4	+	0	1548				RECQL4_ENST00000428558.2_Silent_p.L1070L|CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'UTR	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AGGTTCTGCGCAGACGGGCCA	0.667																																						ENST00000428558.2										"""N, F, S"""						"""osteosarcoma, skin basal and sqamous cell"""			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(3208-3210)ctG>ctA	Genes defective in diseases associated with sensitivity to DNA damaging agents	RecQ protein-like 4							16.0	19.0	18.0					8																	145737553		1963	4122	6085	SO:0001628	intergenic_variant	9401	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145737553C>T		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145737553C>T						RECQL4_ENST00000532237.1_5'UTR	p.L1070L	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		19	3251	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1070						Silent	SNP	ENST00000301327.4	37	c.3210G>A	CCDS6431.1																																																																																				0.667	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2	NM_138431		3	25	0	0	0	1	0	3	25				
HMGXB4	10042	broad.mit.edu	37	22	35683435	35683435	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr22:35683435G>C	ENST00000216106.5	+	8	1586	c.1458G>C	c.(1456-1458)atG>atC	p.M486I	HMGXB4_ENST00000444518.2_Missense_Mutation_p.M377I	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	486					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAGGTTCCATGAAAGTCAAAG	0.433																																						ENST00000216106.5																			0				breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1456-1458)atG>atC		HMG box domain containing 4							119.0	101.0	107.0					22																	35683435		2203	4300	6503	SO:0001583	missense	10042				endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	g.chr22:35683435G>C	AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.1458G>C	22.37:g.35683435G>C	ENSP00000216106:p.Met486Ile					HMGXB4_ENST00000444518.2_Missense_Mutation_p.M377I	p.M486I	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN			8	1586	+			486					O75672|O75673|Q9UMT5	Missense_Mutation	SNP	ENST00000216106.5	37	c.1458G>C	CCDS33641.1	.	.	.	.	.	.	.	.	.	.	G	6.473	0.455527	0.12283	.	.	ENSG00000100281	ENST00000444518;ENST00000216106	T;T	0.16457	2.34;2.34	5.41	2.16	0.27623	.	0.946869	0.08879	N	0.880337	T	0.10766	0.0263	N	0.22421	0.69	0.24883	N	0.992219	B	0.02656	0.0	B	0.01281	0.0	T	0.34850	-0.9812	10	0.36615	T	0.2	-0.008	4.3855	0.11314	0.3084:0.3028:0.3888:0.0	.	486	Q9UGU5	HMGX4_HUMAN	I	377;486	ENSP00000398302:M377I;ENSP00000216106:M486I	ENSP00000216106:M486I	M	+	3	0	HMGXB4	34013435	0.988000	0.35896	0.416000	0.26546	0.870000	0.49936	0.983000	0.29552	0.390000	0.25115	-0.150000	0.13652	ATG		0.433	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487		7	22	0	0	0	1	0	7	22				
GPR39	2863	broad.mit.edu	37	2	133403121	133403121	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:133403121C>G	ENST00000329321.3	+	2	1773	c.1304C>G	c.(1303-1305)tCa>tGa	p.S435*	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	435					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAGCCCAACTCAGGCGCGAAA	0.522																																						ENST00000329321.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1303-1305)tCa>tGa		G protein-coupled receptor 39							54.0	59.0	57.0					2																	133403121		2203	4300	6503	SO:0001587	stop_gained	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133403121C>G	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.1304C>G	2.37:g.133403121C>G	ENSP00000327417:p.Ser435*					LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	p.S435*	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN			2	1773	+			435					B2RC12|B6V9G4|Q08AS2|Q53R01	Nonsense_Mutation	SNP	ENST00000329321.3	37	c.1304C>G	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	C	36	5.841581	0.97016	.	.	ENSG00000183840	ENST00000329321	.	.	.	4.81	0.888	0.19206	.	2.874880	0.00789	N	0.001327	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	1.1911	0.01865	0.1411:0.2833:0.3144:0.2612	.	.	.	.	X	435	.	ENSP00000327417:S435X	S	+	2	0	GPR39	133119591	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.544000	0.06077	-0.017000	0.14103	0.650000	0.86243	TCA		0.522	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			4	69	0	0	0	1	0	4	69				
GRIA2	2891	broad.mit.edu	37	4	158284159	158284159	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr4:158284159G>A	ENST00000264426.9	+	15	2894	c.2615G>A	c.(2614-2616)gGt>gAt	p.G872D	GRIA2_ENST00000393815.2_Missense_Mutation_p.G825D|GRIA2_ENST00000507898.1_Missense_Mutation_p.G825D|GRIA2_ENST00000449365.1_Missense_Mutation_p.G825D|AC079233.1_ENST00000578227.1_RNA|GRIA2_ENST00000296526.7_Missense_Mutation_p.G872D	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	872					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TATAAGGAAGGTTACAACGTA	0.413																																						ENST00000296526.7																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(2614-2616)gGt>gAt		glutamate receptor, ionotropic, AMPA 2	L-Glutamic Acid(DB00142)						131.0	124.0	126.0					4																	158284159		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158284159G>A		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.2615G>A	4.37:g.158284159G>A	ENSP00000264426:p.Gly872Asp					GRIA2_ENST00000264426.9_Missense_Mutation_p.G872D|GRIA2_ENST00000449365.1_Missense_Mutation_p.G825D|GRIA2_ENST00000393815.2_Missense_Mutation_p.G825D|GRIA2_ENST00000507898.1_Missense_Mutation_p.G825D	p.G872D	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	15	2940	+	all_hematologic(180;0.24)	Renal(120;0.0458)	872					A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.2615G>A	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964374	0.74131	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.13901	2.55;2.55;2.58;2.58;2.55	6.08	6.08	0.98989	.	0.279103	0.40144	N	0.001170	T	0.43010	0.1228	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.992	T	0.08330	-1.0727	10	0.52906	T	0.07	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	872;872;825	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	D	825;825;872;872;825	ENSP00000426845:G825D;ENSP00000377403:G825D;ENSP00000296526:G872D;ENSP00000264426:G872D;ENSP00000389837:G825D	ENSP00000264426:G872D	G	+	2	0	GRIA2	158503609	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.894000	0.99253	0.591000	0.81541	GGT		0.413	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			7	99	0	0	0	1	0	7	99				
AHNAK2	113146	broad.mit.edu	37	14	105413482	105413482	+	Missense_Mutation	SNP	G	G	A	rs550119106	byFrequency	TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:105413482G>A	ENST00000333244.5	-	7	8425	c.8306C>T	c.(8305-8307)gCc>gTc	p.A2769V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2769						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACATCGGGGGCTGTCACTTC	0.617													.|||	4	0.000798722	0.0008	0.0014	5008	,	,		17758	0.002		0.0	False		,,,				2504	0.0					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(8305-8307)gCc>gTc		AHNAK nucleoprotein 2							122.0	136.0	132.0					14																	105413482		1861	4083	5944	SO:0001583	missense	113146					nucleus		g.chr14:105413482G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8306C>T	14.37:g.105413482G>A	ENSP00000353114:p.Ala2769Val					AHNAK2_ENST00000557457.1_Intron	p.A2769V	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	8425	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2769					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.8306C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	7.713	0.695547	0.15106	.	.	ENSG00000185567	ENST00000333244	T	0.00932	5.53	3.54	-2.54	0.06307	.	.	.	.	.	T	0.01029	0.0034	L	0.54323	1.7	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.43245	-0.9403	9	0.23891	T	0.37	.	5.3253	0.15903	0.2912:0.5119:0.1969:0.0	.	2769	Q8IVF2	AHNK2_HUMAN	V	2769	ENSP00000353114:A2769V	ENSP00000353114:A2769V	A	-	2	0	AHNAK2	104484527	.	.	0.001000	0.08648	0.009000	0.06853	.	.	-0.354000	0.08212	-0.683000	0.03753	GCC		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		33	251	0	0	0	1	0	33	251				
LINC00969	440993	broad.mit.edu	37	3	195395399	195395399	+	lincRNA	SNP	G	G	A	rs62287990	byFrequency	TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr3:195395399G>A	ENST00000445430.1	+	0	806									long intergenic non-protein coding RNA 969																		GGCTACGGGCGCACCTACTTG	0.607																																						ENST00000445430.1																			0																																																			440993							g.chr3:195395399G>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195395399G>A														0	806	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.607	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	81	0	0	0	1	0	4	81				
AHNAK2	113146	broad.mit.edu	37	14	105414045	105414045	+	Silent	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:105414045G>A	ENST00000333244.5	-	7	7862	c.7743C>T	c.(7741-7743)ctC>ctT	p.L2581L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2581						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGGGCCCTTGAGGTCCATTT	0.617																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(7741-7743)ctC>ctT		AHNAK nucleoprotein 2							124.0	135.0	132.0					14																	105414045		1841	4086	5927	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105414045G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7743C>T	14.37:g.105414045G>A						AHNAK2_ENST00000557457.1_Intron	p.L2581L	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	7862	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2581					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.7743C>T	CCDS45177.1																																																																																				0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		37	271	0	0	0	1	0	37	271				
OR2T27	403239	broad.mit.edu	37	1	248813331	248813331	+	Silent	SNP	G	G	C			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr1:248813331G>C	ENST00000344889.3	-	1	854	c.855C>G	c.(853-855)ctC>ctG	p.L285L		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L285L(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGAGTGGATTGAGCATGGGAG	0.502																																						ENST00000344889.3																			1	Substitution - coding silent(1)	p.L285L(1)	lung(1)	breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32						c.(853-855)ctC>ctG		olfactory receptor, family 2, subfamily T, member 27							81.0	79.0	80.0					1																	248813331		2172	4271	6443	SO:0001819	synonymous_variant	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248813331G>C		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.855C>G	1.37:g.248813331G>C							p.L285L	NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	854	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	285						Silent	SNP	ENST00000344889.3	37	c.855C>G	CCDS31124.1																																																																																				0.502	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		12	48	0	0	0	1	0	12	48				
RBM23	55147	broad.mit.edu	37	14	23374209	23374209	+	Nonsense_Mutation	SNP	G	G	A	rs369539379		TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:23374209G>A	ENST00000359890.3	-	9	934	c.739C>T	c.(739-741)Cga>Tga	p.R247*	RBM23_ENST00000542016.2_Nonsense_Mutation_p.R77*|RBM23_ENST00000556984.1_5'Flank|RBM23_ENST00000399922.2_Nonsense_Mutation_p.R231*|RBM23_ENST00000346528.5_Nonsense_Mutation_p.R213*|RBM23_ENST00000555209.1_5'UTR	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	247					mRNA processing (GO:0006397)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		GCTGCCAGTCGGTTTTTCTCT	0.512																																						ENST00000359890.3																			0				endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10						c.(739-741)Cga>Tga		RNA binding motif protein 23							121.0	127.0	125.0					14																	23374209		1951	4139	6090	SO:0001587	stop_gained	55147				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr14:23374209G>A	AF275678	CCDS41919.1, CCDS41920.1, CCDS41921.1	14q11.1	2014-07-03	2004-04-23	2004-04-23		ENSG00000100461		"""RNA binding motif (RRM) containing"""	20155	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen recep- tors beta"""		"""RNA-binding region (RNP1, RRM) containing 4"""	RNPC4		15694343	Standard	NM_018107		Approved	FLJ10482, CAPERbeta	uc001whg.3	Q86U06		ENST00000359890.3:c.739C>T	14.37:g.23374209G>A	ENSP00000352956:p.Arg247*					RBM23_ENST00000542016.2_Nonsense_Mutation_p.R77*|RBM23_ENST00000399922.2_Nonsense_Mutation_p.R231*|RBM23_ENST00000346528.5_Nonsense_Mutation_p.R213*|RBM23_ENST00000555209.1_5'UTR	p.R247*	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN		GBM - Glioblastoma multiforme(265;0.0128)	9	934	-	all_cancers(95;4.69e-05)		247					D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7	Nonsense_Mutation	SNP	ENST00000359890.3	37	c.739C>T	CCDS41921.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.961999|5.961999	0.97151|0.97151	.|.	.|.	ENSG00000100461|ENSG00000100461	ENST00000553884|ENST00000359890;ENST00000338980;ENST00000399922;ENST00000346528;ENST00000542016;ENST00000557403	.|.	.|.	.|.	5.8|5.8	0.618|0.618	0.17624|0.17624	.|.	.|0.107070	.|0.41097	.|D	.|0.000946	T|.	0.22551|.	0.0544|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.41484|.	-0.9506|.	3|.	.|0.02654	.|T	.|1	-2.7338|-2.7338	10.0353|10.0353	0.42125|0.42125	0.0654:0.0:0.3564:0.5782|0.0654:0.0:0.3564:0.5782	.|.	.|.	.|.	.|.	L|X	21|247;224;231;213;77;77	.|.	.|ENSP00000305783:R247X	P|R	-|-	2|1	0|2	RBM23|RBM23	22444049|22444049	0.997000|0.997000	0.39634|0.39634	0.984000|0.984000	0.44739|0.44739	0.984000|0.984000	0.73092|0.73092	1.024000|1.024000	0.30077|0.30077	-0.146000|-0.146000	0.11274|0.11274	-0.181000|-0.181000	0.13052|0.13052	CCG|CGA		0.512	RBM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413545.3			22	137	0	0	0	1	0	22	137				
AHNAK2	113146	broad.mit.edu	37	14	105419160	105419160	+	Silent	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:105419160G>A	ENST00000333244.5	-	7	2747	c.2628C>T	c.(2626-2628)ctC>ctT	p.L876L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	876						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGTGGCCTTGAGGTCCCCCT	0.657																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2626-2628)ctC>ctT		AHNAK nucleoprotein 2							126.0	141.0	136.0					14																	105419160		1917	4126	6043	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105419160G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2628C>T	14.37:g.105419160G>A						AHNAK2_ENST00000557457.1_Intron	p.L876L	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2747	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	876					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.2628C>T	CCDS45177.1																																																																																				0.657	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		38	266	0	0	0	1	0	38	266				
PCLO	27445	broad.mit.edu	37	7	82538324	82538324	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr7:82538324G>A	ENST00000333891.9	-	8	13643	c.13306C>T	c.(13306-13308)Cat>Tat	p.H4436Y	PCLO_ENST00000423517.2_Missense_Mutation_p.H4436Y	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CGACGCAGATGATAGGCTTTG	0.458																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(13306-13308)Cat>Tat		piccolo presynaptic cytomatrix protein							84.0	75.0	78.0					7																	82538324		1946	4145	6091	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82538324G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13306C>T	7.37:g.82538324G>A	ENSP00000334319:p.His4436Tyr					PCLO_ENST00000333891.8_Missense_Mutation_p.H4436Y	p.H4436Y	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			8	13643	-			4367			PDZ.			Missense_Mutation	SNP	ENST00000333891.9	37	c.13306C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980483	0.53827	.	.	ENSG00000186472	ENST00000333891;ENST00000423517	T;T	0.33654	1.4;1.41	5.39	5.39	0.77823	.	.	.	.	.	T	0.63295	0.2499	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.65994	-0.6033	9	0.87932	D	0	.	19.5274	0.95212	0.0:0.0:1.0:0.0	.	4436;4436	Q9Y6V0-5;Q9Y6V0-6	.;.	Y	4436	ENSP00000334319:H4436Y;ENSP00000388393:H4436Y	ENSP00000334319:H4436Y	H	-	1	0	PCLO	82376260	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.642000	0.98461	2.699000	0.92147	0.591000	0.81541	CAT		0.458	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		4	40	0	0	0	1	0	4	40				
OR10H3	26532	broad.mit.edu	37	19	15852274	15852274	+	Silent	SNP	C	C	G			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr19:15852274C>G	ENST00000305892.1	+	1	72	c.72C>G	c.(70-72)ctC>ctG	p.L24L		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CCCAGCAGCTCCTGCCTGTCT	0.483																																						ENST00000305892.1																			0				cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(70-72)ctC>ctG		olfactory receptor, family 10, subfamily H, member 3							224.0	209.0	214.0					19																	15852274		2203	4300	6503	SO:0001819	synonymous_variant	26532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15852274C>G		CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"""GPCR / Class A : Olfactory receptors"""	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.72C>G	19.37:g.15852274C>G							p.L24L	NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN			1	72	+			24					Q2HIZ3|Q6IFQ0	Silent	SNP	ENST00000305892.1	37	c.72C>G	CCDS12334.1																																																																																				0.483	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460918.1			4	180	0	0	0	1	0	4	180				
KAT2A	2648	broad.mit.edu	37	17	40269510	40269510	+	Silent	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr17:40269510C>T	ENST00000225916.5	-	10	1586	c.1533G>A	c.(1531-1533)aaG>aaA	p.K511K		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	511	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GCCGGTTGGCCTTGGGCGTCA	0.637																																						ENST00000225916.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1531-1533)aaG>aaA		K(lysine) acetyltransferase 2A							28.0	27.0	27.0					17																	40269510		2200	4299	6499	SO:0001819	synonymous_variant	2648				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	g.chr17:40269510C>T	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"""Chromatin-modifying enzymes / K-acetyltransferases"""	4201	protein-coding gene	gene with protein product		602301	"""GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"""	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.1533G>A	17.37:g.40269510C>T							p.K511K	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN			10	1586	-			511			N-acetyltransferase.		Q8N1A2|Q9UCW1	Silent	SNP	ENST00000225916.5	37	c.1533G>A	CCDS11417.1																																																																																				0.637	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	NM_021078		8	41	0	0	0	1	0	8	41				
SLC26A3	1811	broad.mit.edu	37	7	107412532	107412532	+	Missense_Mutation	SNP	T	T	A	rs537063643		TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr7:107412532T>A	ENST00000340010.5	-	18	2213	c.2029A>T	c.(2029-2031)Atc>Ttc	p.I677F	SLC26A3_ENST00000422236.2_Missense_Mutation_p.I564F	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	677	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TCTACCTTGATCCTGATAAAT	0.333																																						ENST00000340010.5																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(2029-2031)Atc>Ttc		solute carrier family 26 (anion exchanger), member 3							93.0	84.0	87.0					7																	107412532		2203	4300	6503	SO:0001583	missense	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107412532T>A	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.2029A>T	7.37:g.107412532T>A	ENSP00000345873:p.Ile677Phe					SLC26A3_ENST00000422236.2_Missense_Mutation_p.I564F	p.I677F	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN			18	2213	-			677			STAS.			Missense_Mutation	SNP	ENST00000340010.5	37	c.2029A>T	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	T	18.55	3.648598	0.67358	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.89415	-2.51;-2.51	5.54	3.2	0.36748	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.146855	0.64402	D	0.000011	D	0.93138	0.7815	M	0.86178	2.8	0.30440	N	0.776307	D;D	0.67145	0.992;0.996	P;D	0.71184	0.877;0.972	D	0.89263	0.3599	10	0.66056	D	0.02	.	6.5489	0.22423	0.0:0.1404:0.1314:0.7282	.	564;677	G5E9U3;P40879	.;S26A3_HUMAN	F	564;677	ENSP00000415817:I564F;ENSP00000345873:I677F	ENSP00000345873:I677F	I	-	1	0	SLC26A3	107199768	0.998000	0.40836	0.998000	0.56505	0.978000	0.69477	0.402000	0.20965	0.946000	0.37632	-0.256000	0.11100	ATC		0.333	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		11	19	0	0	0	1	0	11	19				
CD93	22918	broad.mit.edu	37	20	23065128	23065128	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr20:23065128C>T	ENST00000246006.4	-	1	1849	c.1702G>A	c.(1702-1704)Gtg>Atg	p.V568M		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	568					macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGTGTGGCCACGGAGGAGTCC	0.637																																						ENST00000246006.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1702-1704)Gtg>Atg		CD93 molecule							98.0	96.0	96.0					20																	23065128		2203	4300	6503	SO:0001583	missense	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065128C>T	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1702G>A	20.37:g.23065128C>T	ENSP00000246006:p.Val568Met						p.V568M	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	1849	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		568					O00274	Missense_Mutation	SNP	ENST00000246006.4	37	c.1702G>A	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.388487	0.25118	.	.	ENSG00000125810	ENST00000246006	T	0.80480	-1.38	5.88	0.689	0.18033	.	1.875910	0.03251	N	0.181854	T	0.72228	0.3434	L	0.43152	1.355	0.09310	N	1	P	0.35155	0.487	B	0.18871	0.023	T	0.60321	-0.7286	10	0.49607	T	0.09	-1.8857	10.1459	0.42762	0.1175:0.7624:0.0:0.1201	.	568	Q9NPY3	C1QR1_HUMAN	M	568	ENSP00000246006:V568M	ENSP00000246006:V568M	V	-	1	0	CD93	23013128	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-0.328000	0.07945	0.204000	0.20548	0.655000	0.94253	GTG		0.637	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		6	118	0	0	0	1	0	6	118				
SGK2	10110	broad.mit.edu	37	20	42199306	42199306	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr20:42199306G>A	ENST00000341458.4	+	6	809	c.590G>A	c.(589-591)aGg>aAg	p.R197K	SGK2_ENST00000373077.1_Missense_Mutation_p.R136K|SGK2_ENST00000373092.3_Missense_Mutation_p.R137K|SGK2_ENST00000373100.1_Missense_Mutation_p.R137K|SGK2_ENST00000485914.1_3'UTR|SGK2_ENST00000423407.3_Missense_Mutation_p.R137K|SGK2_ENST00000426287.1_Missense_Mutation_p.R163K	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	197	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCCCGGGCCAGGTTCTACGCT	0.632																																						ENST00000373100.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(409-411)aGg>aAg		serum/glucocorticoid regulated kinase 2							57.0	60.0	59.0					20																	42199306		2203	4300	6503	SO:0001583	missense	10110				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity	g.chr20:42199306G>A	AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.590G>A	20.37:g.42199306G>A	ENSP00000340608:p.Arg197Lys					SGK2_ENST00000341458.4_Missense_Mutation_p.R197K|SGK2_ENST00000423407.3_Missense_Mutation_p.R137K|SGK2_ENST00000373077.1_Missense_Mutation_p.R136K|SGK2_ENST00000485914.1_3'UTR|SGK2_ENST00000426287.1_Missense_Mutation_p.R163K|SGK2_ENST00000373092.3_Missense_Mutation_p.R137K	p.R137K			Q9HBY8	SGK2_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		8	870	+		Myeloproliferative disorder(115;0.00452)	197	Missing (in Ref. 4; CAI42315).		Protein kinase.		Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	ENST00000341458.4	37	c.410G>A	CCDS13320.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258038	0.80246	.	.	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000412111;ENST00000423407;ENST00000341458;ENST00000426287	T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79	4.92	4.92	0.64577	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.21761	0.0524	N	0.16743	0.435	0.80722	D	1	B;B;P	0.42248	0.135;0.283;0.774	B;B;B	0.42827	0.115;0.295;0.399	T	0.03202	-1.1061	10	0.46703	T	0.11	.	17.7648	0.88475	0.0:0.0:1.0:0.0	.	163;197;137	Q9HBY8-3;Q9HBY8;Q9HBY8-2	.;SGK2_HUMAN;.	K	137;137;136;136;137;197;163	ENSP00000362192:R137K;ENSP00000362184:R137K;ENSP00000362168:R136K;ENSP00000396222:R136K;ENSP00000392795:R137K;ENSP00000340608:R197K;ENSP00000412214:R163K	ENSP00000340608:R197K	R	+	2	0	SGK2	41632720	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	9.641000	0.98458	2.658000	0.90341	0.655000	0.94253	AGG		0.632	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1			8	92	0	0	0	1	0	8	92				
DCHS2	54798	broad.mit.edu	37	4	155254036	155254036	+	Silent	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr4:155254036C>T	ENST00000357232.4	-	9	1826	c.1827G>A	c.(1825-1827)gcG>gcA	p.A609A	DCHS2_ENST00000339452.1_Silent_p.A1108A|DCHS2_ENST00000507542.1_5'Flank	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	609	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAAGTGGGTGCGCCTGTGTTT	0.552																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(1825-1827)gcG>gcA		dachsous cadherin-related 2							67.0	66.0	66.0					4																	155254036		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155254036C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1827G>A	4.37:g.155254036C>T						DCHS2_ENST00000339452.1_Silent_p.A1108A	p.A609A	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	1826	-	all_hematologic(180;0.208)	Renal(120;0.0854)	609			Cadherin 5.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.1827G>A	CCDS3785.1																																																																																				0.552	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		5	41	0	0	0	1	0	5	41				
HRG	3273	broad.mit.edu	37	3	186392952	186392952	+	Silent	SNP	C	C	G			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr3:186392952C>G	ENST00000232003.4	+	6	794	c.714C>G	c.(712-714)gtC>gtG	p.V238V		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	238	Cystatin 2.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		AAAACCTTGTCATAAACTGTG	0.438																																						ENST00000232003.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(712-714)gtC>gtG		histidine-rich glycoprotein							208.0	211.0	210.0					3																	186392952		2203	4300	6503	SO:0001819	synonymous_variant	3273				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	g.chr3:186392952C>G		CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.714C>G	3.37:g.186392952C>G							p.V238V	NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)	6	794	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		238			Cystatin 2.		B9EK35|D3DNU7	Silent	SNP	ENST00000232003.4	37	c.714C>G	CCDS3280.1																																																																																				0.438	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412		4	281	0	0	0	1	0	4	281				
HSPG2	3339	broad.mit.edu	37	1	22216609	22216609	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr1:22216609C>A	ENST00000374695.3	-	6	518	c.439G>T	c.(439-441)Gag>Tag	p.E147*		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	147	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	ACATCCAGCTCCACAAAAACC	0.617																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(439-441)Gag>Tag		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						139.0	124.0	129.0					1																	22216609		2203	4300	6503	SO:0001587	stop_gained	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22216609C>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.439G>T	1.37:g.22216609C>A	ENSP00000363827:p.Glu147*						p.E147*	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	6	518	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	147			SEA.		Q16287|Q5SZI3|Q9H3V5	Nonsense_Mutation	SNP	ENST00000374695.3	37	c.439G>T	CCDS30625.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.666493|4.666493	0.88251|0.88251	.|.	.|.	ENSG00000142798|ENSG00000142798	ENST00000374695;ENST00000439717|ENST00000412328	.|T	.|0.55413	.|0.52	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.000000|.	0.40385|.	N|.	0.001116|.	.|T	.|0.73187	.|0.3555	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.74348	.|0.983	.|T	.|0.75659	.|-0.3241	.|7	0.87932|0.66056	D|D	0|0.02	.|.	16.8112|16.8112	0.85720|0.85720	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|69	.|Q5SZI5	.|.	X|C	147;113|69	.|ENSP00000405412:W69C	ENSP00000363827:E147X|ENSP00000405412:W69C	E|W	-|-	1|3	0|0	HSPG2|HSPG2	22089196|22089196	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.905000|0.905000	0.53344|0.53344	6.844000|6.844000	0.75390|0.75390	2.837000|2.837000	0.97791|0.97791	0.655000|0.655000	0.94253|0.94253	GAG|TGG		0.617	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		24	147	1	0	7.38237e-10	1	8.25483e-10	24	147				
TTN	7273	broad.mit.edu	37	2	179422111	179422111	+	Missense_Mutation	SNP	C	C	T	rs202001776		TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:179422111C>T	ENST00000591111.1	-	279	83179	c.82955G>A	c.(82954-82956)cGc>cAc	p.R27652H	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R20420H|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R29293H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R20353H|TTN_ENST00000460472.2_Missense_Mutation_p.R20228H|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R26725H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27652	Fibronectin type-III 101. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> C. {ECO:0000269|PubMed:17344846}.		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)			GTGAGTTGTGCGGATGACCAG	0.433																																						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.(87877-87879)cGc>cAc		titin		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	2,3932		0,2,1965	215.0	199.0	205.0		60683,80174,61058,61259	5.8	1.0	2		205	0,8316		0,0,4158	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	29,29,29,29	0,2,6123	TT,TC,CC		0.0,0.0508,0.0163	probably-damaging,probably-damaging,probably-damaging,probably-damaging	20228/26927,26725/33424,20353/27052,20420/27119	179422111	2,12248	1967	4158	6125	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179422111C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.82955G>A	2.37:g.179422111C>T	ENSP00000465570:p.Arg27652His					TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R27652H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R26725H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R20420H|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R20228H|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R20353H	p.R29293H	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)		329	88102	-			27652			Ig-like 134.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.87878G>A		.	.	.	.	.	.	.	.	.	.	C	21.9	4.221458	0.79464	5.08E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	5.77	5.77	0.91146	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71358	0.3330	L	0.41415	1.275	0.58432	D	0.999999	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	T	0.71951	-0.4437	9	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	20228;20353;20420;27652	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	26725;20228;20420;20353;20225	ENSP00000343764:R26725H;ENSP00000434586:R20228H;ENSP00000340554:R20420H;ENSP00000352154:R20353H	ENSP00000340554:R20420H	R	-	2	0	TTN	179130357	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.041000	0.70988	2.885000	0.99019	0.655000	0.94253	CGC		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	73	0	0	0	1	0	15	73				
NDRG2	57447	broad.mit.edu	37	14	21490276	21490276	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:21490276G>A	ENST00000556147.1	-	5	1229	c.289C>T	c.(289-291)Cgg>Tgg	p.R97W	NDRG2_ENST00000397844.2_Missense_Mutation_p.R83W|NDRG2_ENST00000397851.2_Missense_Mutation_p.R97W|NDRG2_ENST00000298684.5_Missense_Mutation_p.R83W|NDRG2_ENST00000553503.1_Missense_Mutation_p.R83W|NDRG2_ENST00000554143.1_Missense_Mutation_p.R83W|NDRG2_ENST00000397856.3_Missense_Mutation_p.R83W|NDRG2_ENST00000397847.2_Missense_Mutation_p.R97W|NDRG2_ENST00000403829.3_Missense_Mutation_p.R93W|NDRG2_ENST00000298687.5_Missense_Mutation_p.R97W|NDRG2_ENST00000397858.1_Missense_Mutation_p.R97W|AL161668.5_ENST00000533984.1_lincRNA|NDRG2_ENST00000360463.3_Missense_Mutation_p.R83W|NDRG2_ENST00000555158.1_Missense_Mutation_p.R83W|NDRG2_ENST00000554277.1_5'Flank|NDRG2_ENST00000350792.3_Missense_Mutation_p.R83W|NDRG2_ENST00000397853.3_Missense_Mutation_p.R97W|NDRG2_ENST00000554104.1_Missense_Mutation_p.R10W|NDRG2_ENST00000397855.3_Missense_Mutation_p.R83W			Q9UN36	NDRG2_HUMAN	NDRG family member 2	97					cell differentiation (GO:0030154)|negative regulation of cytokine production (GO:0001818)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of platelet-derived growth factor production (GO:0090361)|regulation of vascular endothelial growth factor production (GO:0010574)|substantia nigra development (GO:0021762)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ACATGAACCCGCACAAAGTTC	0.483																																						ENST00000556147.1																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(289-291)Cgg>Tgg		NDRG family member 2							118.0	111.0	113.0					14																	21490276		2203	4300	6503	SO:0001583	missense	57447				cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm		g.chr14:21490276G>A	AB033074	CCDS9564.1, CCDS9565.1, CCDS61384.1, CCDS61386.1, CCDS73613.1	14q11.2	2008-07-09			ENSG00000165795	ENSG00000165795			14460	protein-coding gene	gene with protein product		605272				10831399	Standard	NM_201535		Approved	KIAA1248, SYLD	uc001vyx.3	Q9UN36	OTTHUMG00000029619	ENST00000556147.1:c.289C>T	14.37:g.21490276G>A	ENSP00000451712:p.Arg97Trp					NDRG2_ENST00000403829.3_Missense_Mutation_p.R93W|NDRG2_ENST00000397847.2_Missense_Mutation_p.R97W|NDRG2_ENST00000555158.1_Missense_Mutation_p.R83W|NDRG2_ENST00000397851.2_Missense_Mutation_p.R97W|NDRG2_ENST00000554104.1_Missense_Mutation_p.R10W|NDRG2_ENST00000397853.3_Missense_Mutation_p.R97W|NDRG2_ENST00000553503.1_Missense_Mutation_p.R83W|NDRG2_ENST00000298684.5_Missense_Mutation_p.R83W|NDRG2_ENST00000397844.2_Missense_Mutation_p.R83W|NDRG2_ENST00000397856.3_Missense_Mutation_p.R83W|NDRG2_ENST00000397855.3_Missense_Mutation_p.R83W|NDRG2_ENST00000350792.3_Missense_Mutation_p.R83W|NDRG2_ENST00000397858.1_Missense_Mutation_p.R97W|NDRG2_ENST00000298687.5_Missense_Mutation_p.R97W|NDRG2_ENST00000554143.1_Missense_Mutation_p.R83W|NDRG2_ENST00000360463.3_Missense_Mutation_p.R83W	p.R97W			Q9UN36	NDRG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)	5	1229	-	all_cancers(95;0.00185)		97					B3KUE3|B4DE86|B7WP11|B7WPD5|D3DS07|D3DS10|Q567T1|Q68DW2|Q86U08|Q86U46|Q96FD3|Q96FT0|Q96JU0|Q96PN0|Q9BQH5|Q9ULH2	Missense_Mutation	SNP	ENST00000556147.1	37	c.289C>T	CCDS9565.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.78|18.78	3.697489|3.697489	0.68386|0.68386	.|.	.|.	ENSG00000165795|ENSG00000165795	ENST00000553563|ENST00000298687;ENST00000350792;ENST00000554770;ENST00000397858;ENST00000557633;ENST00000554104;ENST00000555158;ENST00000553503;ENST00000397853;ENST00000360463;ENST00000556147;ENST00000554143;ENST00000397851;ENST00000397847;ENST00000397856;ENST00000397855;ENST00000298684;ENST00000397844;ENST00000403829;ENST00000556008;ENST00000556366;ENST00000556974;ENST00000555026;ENST00000553867;ENST00000449431;ENST00000557169;ENST00000555869;ENST00000557182;ENST00000555733;ENST00000555384;ENST00000554094;ENST00000553442;ENST00000556420;ENST00000553784;ENST00000557149;ENST00000555142;ENST00000554531;ENST00000557264;ENST00000557676;ENST00000556924;ENST00000556329;ENST00000554398;ENST00000554472;ENST00000554483;ENST00000555657;ENST00000557274;ENST00000556457;ENST00000556688;ENST00000554561;ENST00000554419;ENST00000554489;ENST00000556561;ENST00000554893;ENST00000554833	T|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.23147|0.29142	1.92|1.58;1.58;1.58;2.27;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;2.27;2.27;1.58;1.58;1.58;1.58;1.58;1.58;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27	5.9|5.9	5.01|5.01	0.66863|0.66863	.|.	.|0.359360	.|0.29940	.|N	.|0.010816	T|T	0.46560|0.46560	0.1399|0.1399	L|L	0.44542|0.44542	1.39|1.39	0.39014|0.39014	D|D	0.959615|0.959615	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;0.998	.|D;D;D;P;D;P	.|0.71184	.|0.933;0.953;0.929;0.89;0.972;0.738	T|T	0.50415|0.50415	-0.8831|-0.8831	6|10	.|0.66056	.|D	.|0.02	-9.9442|-9.9442	13.5026|13.5026	0.61467|0.61467	0.0:0.2987:0.7012:0.0|0.0:0.2987:0.7012:0.0	.|.	.|93;97;83;78;97;83	.|B4DE86;Q9UN36-3;Q9UN36-5;G3V3N4;Q9UN36;Q9UN36-4	.|.;.;.;.;NDRG2_HUMAN;.	V|W	77|97;83;78;97;40;10;83;83;97;83;97;83;97;97;83;83;83;83;93;83;10;83;83;97;58;83;83;42;97;97;83;83;83;97;83;83;86;83;83;83;83;97;97;83;83;83;97;97;83;97;83;97;83;97	ENSP00000451541:A77V|ENSP00000298687:R97W;ENSP00000344620:R83W;ENSP00000380956:R97W;ENSP00000450835:R40W;ENSP00000452216:R10W;ENSP00000452038:R83W;ENSP00000452306:R83W;ENSP00000380951:R97W;ENSP00000353649:R83W;ENSP00000451712:R97W;ENSP00000452006:R83W;ENSP00000380949:R97W;ENSP00000380945:R97W;ENSP00000380954:R83W;ENSP00000380953:R83W;ENSP00000298684:R83W;ENSP00000380943:R83W;ENSP00000385889:R93W;ENSP00000451966:R83W;ENSP00000452413:R10W;ENSP00000452362:R83W;ENSP00000451274:R83W;ENSP00000450691:R97W;ENSP00000397250:R58W;ENSP00000452334:R83W;ENSP00000451105:R83W;ENSP00000450545:R42W;ENSP00000452482:R97W;ENSP00000451094:R97W;ENSP00000452278:R83W;ENSP00000450493:R83W;ENSP00000451951:R83W;ENSP00000451059:R97W;ENSP00000452592:R83W;ENSP00000450513:R83W;ENSP00000451302:R86W;ENSP00000451471:R83W;ENSP00000452548:R83W;ENSP00000450504:R83W;ENSP00000452262:R83W;ENSP00000451185:R97W;ENSP00000451348:R97W;ENSP00000451472:R83W;ENSP00000452247:R83W;ENSP00000452344:R83W;ENSP00000450852:R97W;ENSP00000451981:R97W;ENSP00000451163:R83W;ENSP00000452179:R97W;ENSP00000452302:R83W;ENSP00000450825:R97W;ENSP00000450450:R83W;ENSP00000452458:R97W	.|ENSP00000298684:R83W	A|R	-|-	2|1	0|2	NDRG2|NDRG2	20560116|20560116	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	4.369000|4.369000	0.59511|0.59511	1.504000|1.504000	0.48704|0.48704	0.558000|0.558000	0.71614|0.71614	GCG|CGG		0.483	NDRG2-013	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411717.1			4	147	0	0	0	1	0	4	147				
NDST3	9348	broad.mit.edu	37	4	119059244	119059244	+	Silent	SNP	G	G	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr4:119059244G>T	ENST00000296499.5	+	5	1663	c.1260G>T	c.(1258-1260)gtG>gtT	p.V420V	NDST3_ENST00000433996.2_Silent_p.V339V	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	420	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						GCTACGCTGTGGCCCCTCACC	0.453																																						ENST00000296499.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(1258-1260)gtG>gtT		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3							98.0	97.0	97.0					4																	119059244		2203	4300	6503	SO:0001819	synonymous_variant	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:119059244G>T	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1260G>T	4.37:g.119059244G>T						NDST3_ENST00000433996.2_Silent_p.V339V	p.V420V	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN			5	1663	+			420			Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Silent	SNP	ENST00000296499.5	37	c.1260G>T	CCDS3708.1																																																																																				0.453	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		9	57	1	0	6.40141e-05	1	6.67266e-05	9	57				
TLR9	54106	broad.mit.edu	37	3	52255722	52255722	+	Silent	SNP	G	G	A	rs201959275		TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr3:52255722G>A	ENST00000360658.2	-	2	3243	c.2610C>T	c.(2608-2610)taC>taT	p.Y870Y	TLR9_ENST00000494383.1_Nonsense_Mutation_p.R1024*|TLR9_ENST00000597542.1_Silent_p.Y894Y	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	870	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	CGAAGGCATCGTAGGGCAGGG	0.652													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19480	0.0		0.0	False		,,,				2504	0.0					ENST00000494383.1																			0				endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30						c.(3070-3072)Cga>Tga		toll-like receptor 9	Chloroquine(DB00608)						76.0	74.0	75.0					3																	52255722		2203	4300	6503	SO:0001819	synonymous_variant	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52255722G>A	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.2610C>T	3.37:g.52255722G>A						TLR9_ENST00000360658.2_Silent_p.Y870Y|TLR9_ENST00000597542.1_Silent_p.Y894Y	p.R1024*			Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	5	3069	-			0					B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Nonsense_Mutation	SNP	ENST00000360658.2	37	c.3070C>T	CCDS2848.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	0.028	-1.353385	0.01256	.	.	ENSG00000173366	ENST00000494383	.	.	.	5.1	-8.93	0.00771	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	22.0369	0.99965	0.1938:0.0:0.8062:0.0	.	.	.	.	X	1024	.	.	R	-	1	2	RP11-330H6.5	52230762	0.002000	0.14202	0.035000	0.18076	0.333000	0.28666	-1.393000	0.02521	-2.899000	0.00312	-1.004000	0.02495	CGA		0.652	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			48	73	0	0	0	1	0	48	73				
SUPT20H	55578	broad.mit.edu	37	13	37605971	37605971	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr13:37605971G>A	ENST00000350612.6	-	11	989	c.769C>T	c.(769-771)Cct>Tct	p.P257S	AL138706.1_ENST00000408173.1_RNA|SUPT20H_ENST00000464744.1_Missense_Mutation_p.P258S|SUPT20H_ENST00000356185.3_Missense_Mutation_p.P258S|SUPT20H_ENST00000475892.1_Missense_Mutation_p.P257S|SUPT20H_ENST00000542180.1_Missense_Mutation_p.P245S|SUPT20H_ENST00000360252.4_Missense_Mutation_p.P258S	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	257					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										TGAGGAGGAGGTGGACAATGA	0.378																																						ENST00000360252.4																			0											c.(772-774)Cct>Tct		suppressor of Ty 20 homolog (S. cerevisiae)							65.0	69.0	67.0					13																	37605971		2203	4300	6503	SO:0001583	missense	55578							g.chr13:37605971G>A	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.769C>T	13.37:g.37605971G>A	ENSP00000218894:p.Pro257Ser					SUPT20H_ENST00000475892.1_Missense_Mutation_p.P257S|SUPT20H_ENST00000350612.6_Missense_Mutation_p.P257S|SUPT20H_ENST00000356185.3_Missense_Mutation_p.P258S|SUPT20H_ENST00000464744.1_Missense_Mutation_p.P258S|SUPT20H_ENST00000542180.1_Missense_Mutation_p.P245S	p.P258S	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1					11	1019	-								E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	ENST00000350612.6	37	c.772C>T	CCDS31959.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.999313	0.35226	.	.	ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744;ENST00000542180	T;T;T;T;T;T	0.40756	1.02;1.02;1.6;1.02;1.02;1.04	5.86	2.97	0.34412	.	0.218945	0.47455	D	0.000228	T	0.26882	0.0658	L	0.38175	1.15	0.31848	N	0.622603	B;B;B;B;B;B	0.24618	0.008;0.035;0.107;0.015;0.025;0.008	B;B;B;B;B;B	0.28784	0.018;0.04;0.094;0.03;0.052;0.019	T	0.10337	-1.0634	10	0.24483	T	0.36	-24.4535	3.6869	0.08331	0.0841:0.1133:0.4669:0.3357	.	245;257;257;258;258;257	B4E2D5;B3KNI1;E7ER46;A8K8L1;Q8NEM7-2;Q8NEM7	.;.;.;.;.;FA48A_HUMAN	S	258;257;257;258;257;258;245	ENSP00000353388:P258S;ENSP00000417510:P257S;ENSP00000218894:P257S;ENSP00000348512:P258S;ENSP00000419754:P258S;ENSP00000439000:P245S	ENSP00000218894:P257S	P	-	1	0	FAM48A	36503971	1.000000	0.71417	0.998000	0.56505	0.692000	0.40212	2.903000	0.48711	2.777000	0.95525	0.591000	0.81541	CCT		0.378	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569		13	40	0	0	0	1	0	13	40				
FN1	2335	broad.mit.edu	37	2	216288916	216288916	+	Nonsense_Mutation	SNP	G	G	T	rs201876289		TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:216288916G>T	ENST00000359671.1	-	8	1434	c.1169C>A	c.(1168-1170)tCg>tAg	p.S390*	FN1_ENST00000345488.5_Nonsense_Mutation_p.S390*|FN1_ENST00000336916.4_Nonsense_Mutation_p.S390*|FN1_ENST00000346544.3_Nonsense_Mutation_p.S390*|FN1_ENST00000446046.1_Nonsense_Mutation_p.S390*|FN1_ENST00000357009.2_Nonsense_Mutation_p.S390*|FN1_ENST00000421182.1_Nonsense_Mutation_p.S390*|FN1_ENST00000357867.4_Nonsense_Mutation_p.S390*|FN1_ENST00000443816.1_Nonsense_Mutation_p.S390*|FN1_ENST00000356005.4_Nonsense_Mutation_p.S390*|FN1_ENST00000354785.4_Nonsense_Mutation_p.S390*|FN1_ENST00000323926.6_Nonsense_Mutation_p.S390*|FN1_ENST00000432072.2_Nonsense_Mutation_p.S390*|FN1_ENST00000426059.1_Nonsense_Mutation_p.S390*			P02751	FINC_HUMAN	fibronectin 1	390	Collagen-binding.|Fibronectin type-II 1. {ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CTCATAATTCGAAGTTGTGCT	0.512																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(1168-1170)tCg>tAg		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						181.0	146.0	158.0					2																	216288916		2203	4300	6503	SO:0001587	stop_gained	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216288916G>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.1169C>A	2.37:g.216288916G>T	ENSP00000352696:p.Ser390*					FN1_ENST00000346544.3_Nonsense_Mutation_p.S390*|FN1_ENST00000323926.6_Nonsense_Mutation_p.S390*|FN1_ENST00000345488.5_Nonsense_Mutation_p.S390*|FN1_ENST00000336916.4_Nonsense_Mutation_p.S390*|FN1_ENST00000443816.1_Nonsense_Mutation_p.S390*|FN1_ENST00000426059.1_Nonsense_Mutation_p.S390*|FN1_ENST00000432072.2_Nonsense_Mutation_p.S390*|FN1_ENST00000446046.1_Nonsense_Mutation_p.S390*|FN1_ENST00000421182.1_Nonsense_Mutation_p.S390*|FN1_ENST00000356005.4_Nonsense_Mutation_p.S390*|FN1_ENST00000359671.1_Nonsense_Mutation_p.S390*|FN1_ENST00000357867.4_Nonsense_Mutation_p.S390*|FN1_ENST00000357009.2_Nonsense_Mutation_p.S390*	p.S390*			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	1538	-		Renal(323;0.127)	390			Collagen-binding.|Fibronectin type-II 1.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Nonsense_Mutation	SNP	ENST00000359671.1	37	c.1169C>A		.	.	.	.	.	.	.	.	.	.	G	41	9.111274	0.99069	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	.	.	.	5.97	5.09	0.68999	.	0.093361	0.46758	D	0.000264	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.1998	0.86902	0.0:0.1261:0.8739:0.0	.	.	.	.	X	390	.	ENSP00000265313:S390X	S	-	2	0	FN1	215997161	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	6.333000	0.72939	1.513000	0.48852	0.655000	0.94253	TCG		0.512	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		20	106	1	0	8.10497e-08	1	8.901e-08	20	106				
SUPT6H	6830	broad.mit.edu	37	17	27031353	27031353	+	IGR	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr17:27031353C>T	ENST00000314616.6	+	0	6518				PROCA1_ENST00000579650.1_5'UTR|PROCA1_ENST00000301039.2_Missense_Mutation_p.E110K|PROCA1_ENST00000581289.1_Intron|PROCA1_ENST00000439862.3_Missense_Mutation_p.E112K	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCCACATGCTCCTCCTCCGGT	0.627																																						ENST00000301039.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16						c.(328-330)Gag>Aag		protein interacting with cyclin A1							108.0	116.0	113.0					17																	27031353		2203	4300	6503	SO:0001628	intergenic_variant	147011				lipid catabolic process		calcium ion binding|phospholipase A2 activity	g.chr17:27031353C>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85			17.37:g.27031353C>T						PROCA1_ENST00000439862.3_Missense_Mutation_p.E112K|PROCA1_ENST00000581289.1_Intron|PROCA1_ENST00000579650.1_5'UTR	p.E110K	NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN			3	521	-	Lung NSC(42;0.00431)		138					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.328G>A	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	8.164	0.790189	0.16258	.	.	ENSG00000167525	ENST00000301039;ENST00000439862;ENST00000415329;ENST00000422880	T;T	0.04970	3.52;3.52	5.29	2.04	0.26737	Phospholipase A2 (2);	0.411149	0.26463	N	0.024233	T	0.04679	0.0127	L	0.36672	1.1	0.09310	N	1	B;P;P	0.36535	0.099;0.557;0.557	B;B;B	0.30495	0.025;0.082;0.116	T	0.41324	-0.9515	10	0.21014	T	0.42	-16.9456	10.531	0.44977	0.1131:0.4984:0.3885:0.0	.	138;112;110	Q8NCQ7;G5E9R8;Q8NCQ7-2	PRCA1_HUMAN;.;.	K	110;112;138;112	ENSP00000301039:E110K;ENSP00000411400:E112K	ENSP00000301039:E110K	E	-	1	0	PROCA1	24055480	0.225000	0.23685	0.002000	0.10522	0.034000	0.12701	0.394000	0.20834	0.215000	0.20761	-0.795000	0.03280	GAG		0.627	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		14	262	0	0	0	1	0	14	262				
ARHGEF6	9459	broad.mit.edu	37	X	135862940	135862940	+	Silent	SNP	C	C	T			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chrX:135862940C>T	ENST00000250617.6	-	1	1307	c.102G>A	c.(100-102)tcG>tcA	p.S34S		NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	34	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CATTTTTCAGCGAGGACTTTA	0.428																																						ENST00000250617.6																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38						c.(100-102)tcG>tcA		Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6							161.0	152.0	155.0					X																	135862940		2203	4300	6503	SO:0001819	synonymous_variant	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135862940C>T	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.102G>A	X.37:g.135862940C>T							p.S34S	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN			1	1307	-	Acute lymphoblastic leukemia(192;0.000127)		34			CH.		A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Silent	SNP	ENST00000250617.6	37	c.102G>A	CCDS14660.1																																																																																				0.428	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		48	77	0	0	0	1	0	48	77				
AHNAK2	113146	broad.mit.edu	37	14	105419469	105419469	+	Silent	SNP	G	G	C			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:105419469G>C	ENST00000333244.5	-	7	2438	c.2319C>G	c.(2317-2319)ctC>ctG	p.L773L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	773						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGGGCCCTTGAGGTCCACTT	0.627																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2317-2319)ctC>ctG		AHNAK nucleoprotein 2							118.0	130.0	126.0					14																	105419469		1865	4097	5962	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105419469G>C	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2319C>G	14.37:g.105419469G>C						AHNAK2_ENST00000557457.1_Intron	p.L773L	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2438	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	773					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.2319C>G	CCDS45177.1																																																																																				0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		40	257	0	0	0	1	0	40	257				
KRT39	390792	broad.mit.edu	37	17	39120032	39120032	+	Silent	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr17:39120032G>A	ENST00000355612.2	-	3	590	c.555C>T	c.(553-555)taC>taT	p.Y185Y	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	185	Coil 1B.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CCTCAGCTTCGTATCTTTAAA	0.507																																						ENST00000355612.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17						c.(553-555)taC>taT		keratin 39							72.0	67.0	69.0					17																	39120032		2203	4296	6499	SO:0001819	synonymous_variant	390792					intermediate filament	structural molecule activity	g.chr17:39120032G>A	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.555C>T	17.37:g.39120032G>A						AC004231.2_ENST00000418393.1_RNA	p.Y185Y	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN			3	590	-		Breast(137;0.00043)|Ovarian(249;0.15)	185			Coil 1B.|Rod.		B2RXK6|Q6IFU6	Silent	SNP	ENST00000355612.2	37	c.555C>T	CCDS11382.1																																																																																				0.507	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	NM_213656		8	42	0	0	0	1	0	8	42				
AHNAK2	113146	broad.mit.edu	37	14	105407653	105407653	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr14:105407653G>A	ENST00000333244.5	-	7	14254	c.14135C>T	c.(14134-14136)tCt>tTt	p.S4712F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4712						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTTGGTAGAAGAAAATGAAAC	0.398																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(14134-14136)tCt>tTt		AHNAK nucleoprotein 2							64.0	67.0	66.0					14																	105407653		1838	4073	5911	SO:0001583	missense	113146					nucleus		g.chr14:105407653G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.14135C>T	14.37:g.105407653G>A	ENSP00000353114:p.Ser4712Phe					AHNAK2_ENST00000557457.1_Intron	p.S4712F	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	14254	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4712					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.14135C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614320	0.46631	.	.	ENSG00000185567	ENST00000333244	T	0.01099	5.34	2.68	2.68	0.31781	.	.	.	.	.	T	0.03915	0.0110	L	0.42245	1.32	0.09310	N	1	D	0.71674	0.998	D	0.70227	0.968	T	0.42413	-0.9453	9	0.59425	D	0.04	.	12.608	0.56535	0.0:0.0:1.0:0.0	.	4712	Q8IVF2	AHNK2_HUMAN	F	4712	ENSP00000353114:S4712F	ENSP00000353114:S4712F	S	-	2	0	AHNAK2	104478698	0.000000	0.05858	0.001000	0.08648	0.120000	0.20174	0.652000	0.24888	1.219000	0.43474	0.196000	0.17591	TCT		0.398	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		13	62	0	0	0	1	0	13	62				
SPIB	6689	broad.mit.edu	37	19	50926135	50926135	+	Silent	SNP	C	C	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr19:50926135C>A	ENST00000595883.1	+	4	205	c.180C>A	c.(178-180)gcC>gcA	p.A60A	SPIB_ENST00000439922.2_Intron|SPIB_ENST00000596074.1_Intron|SPIB_ENST00000270632.7_Silent_p.A60A|SPIB_ENST00000597855.1_Silent_p.A60A|CTD-2545M3.6_ENST00000599632.1_Missense_Mutation_p.L195I	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	60	TAD2.				cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CCTATGAAGCCTTCGACCCGG	0.657																																						ENST00000595883.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14						c.(178-180)gcC>gcA		Spi-B transcription factor (Spi-1/PU.1 related)							40.0	49.0	46.0					19																	50926135		2203	4297	6500	SO:0001819	synonymous_variant	6689				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding	g.chr19:50926135C>A		CCDS33080.1, CCDS58674.1, CCDS59412.1	19q13.3-q13.4	2008-07-22				ENSG00000269404			11242	protein-coding gene	gene with protein product		606802				1406622	Standard	NM_003121		Approved	SPI-B	uc002psd.3	Q01892		ENST00000595883.1:c.180C>A	19.37:g.50926135C>A						SPIB_ENST00000596074.1_Intron|SPIB_ENST00000439922.2_Intron|SPIB_ENST00000270632.7_Silent_p.A60A|SPIB_ENST00000597855.1_Silent_p.A60A	p.A60A	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	4	205	+		all_neural(266;0.131)	60			TAD2.		A8K9C9|B4DUG6|Q15359	Silent	SNP	ENST00000595883.1	37	c.180C>A	CCDS33080.1																																																																																				0.657	SPIB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464744.1	NM_003121		15	141	1	0	1.15088e-07	1	1.25273e-07	15	141				
GPR115	221393	broad.mit.edu	37	6	47680273	47680273	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr6:47680273G>A	ENST00000283303.2	+	5	739	c.481G>A	c.(481-483)Gca>Aca	p.A161T	GPR115_ENST00000327753.3_Missense_Mutation_p.A161T|RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000371220.1_Missense_Mutation_p.A218T	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	161					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TGGAAATATTGCATTTATAGT	0.333																																					GBM(22;431 510 9010 26644 32828)	ENST00000283303.2																			0				NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						c.(481-483)Gca>Aca		G protein-coupled receptor 115							89.0	92.0	91.0					6																	47680273		2203	4300	6503	SO:0001583	missense	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47680273G>A	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.481G>A	6.37:g.47680273G>A	ENSP00000283303:p.Ala161Thr					GPR115_ENST00000327753.3_Missense_Mutation_p.A161T|GPR115_ENST00000371220.1_Missense_Mutation_p.A218T	p.A161T	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN			5	739	+			161					B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	c.481G>A	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	G	30	5.054457	0.93793	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.37058	1.46;1.22;1.22	5.78	5.78	0.91487	.	0.080213	0.53938	D	0.000052	T	0.55721	0.1938	M	0.78637	2.42	0.39545	D	0.968884	D	0.89917	1.0	D	0.74348	0.983	T	0.59005	-0.7535	10	0.66056	D	0.02	-17.2952	17.1742	0.86837	0.0:0.0:1.0:0.0	.	161	Q8IZF3	GP115_HUMAN	T	218;161;161	ENSP00000360264:A218T;ENSP00000328319:A161T;ENSP00000283303:A161T	ENSP00000283303:A161T	A	+	1	0	GPR115	47788232	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.916000	0.69981	2.738000	0.93877	0.655000	0.94253	GCA		0.333	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		10	57	0	0	0	1	0	10	57				
PRAMEF36P	645354	broad.mit.edu	37	1	13164130	13164131	+	RNA	INS	-	-	A	rs55911217		TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr1:13164130_13164131insA	ENST00000434606.1	-	0	284																											TTTACTGTAACAAAAAAAAAAG	0.515																																						ENST00000434606.1																			0																																																			0							g.chr1:13164130_13164131insA																													1.37:g.13164140_13164140dupA														0	284	-									RNA	INS	ENST00000434606.1	37																																																																																						0.515	RP13-221M14.3-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000331157.1			2	4						2	4	---	---	---	---
RGPD3	653489	broad.mit.edu	37	2	107041534	107041534	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr2:107041534delA	ENST00000409886.3	-	20	2976	c.2889delT	c.(2887-2889)tttfs	p.F963fs	RGPD3_ENST00000304514.7_Frame_Shift_Del_p.F963fs	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	963					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTGTTTGGCCAAAAATCACAC	0.398																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2887-2889)ttfs		RANBP2-like and GRIP domain containing 3							33.0	53.0	47.0					2																	107041534		692	1582	2274	SO:0001589	frameshift_variant	653489				intracellular transport		binding	g.chr2:107041534delA		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2889delT	2.37:g.107041534delA	ENSP00000386588:p.Phe963fs					RGPD3_ENST00000304514.7_Frame_Shift_Del_p.F963fs	p.F963fs	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			20	2976	-			963					B8ZZM4	Frame_Shift_Del	DEL	ENST00000409886.3	37	c.2889delT	CCDS46379.1																																																																																				0.398	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		8	407						8	407	---	---	---	---
FAM86EP	348926	broad.mit.edu	37	4	3951121	3951122	+	RNA	INS	-	-	TGTC	rs35568143|rs71636744|rs370806504	byFrequency	TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr4:3951121_3951122insTGTC	ENST00000313946.8	-	0	155				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		cgttttcACTTTGTGCAGGAAG	0.515														4218	0.842252	0.9834	0.8357	5008	,	,		15370	0.8373		0.7694	False		,,,				2504	0.7362					ENST00000281228.8																			0																																																			0							g.chr4:3951121_3951122insTGTC			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3951121_3951122insTGTC						FAM86EP_ENST00000313946.8_RNA								0	344	-									RNA	INS	ENST00000313946.8	37																																																																																						0.515	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			3	4						3	4	---	---	---	---
CCSER1	401145	broad.mit.edu	37	4	91229789	91229789	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr4:91229789delT	ENST00000509176.1	+	2	642	c.354delT	c.(352-354)ggtfs	p.G118fs	CCSER1_ENST00000432775.2_Frame_Shift_Del_p.G118fs|CCSER1_ENST00000333691.8_Frame_Shift_Del_p.G118fs	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	118																	ATTCTGTTGGTTTTAGTAGTT	0.358																																						ENST00000509176.1																			0											c.(352-354)ggfs		coiled-coil serine-rich protein 1							64.0	61.0	62.0					4																	91229789		1835	4092	5927	SO:0001589	frameshift_variant	401145							g.chr4:91229789delT		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.354delT	4.37:g.91229789delT	ENSP00000425040:p.Gly118fs					CCSER1_ENST00000432775.2_Frame_Shift_Del_p.G118fs|CCSER1_ENST00000333691.8_Frame_Shift_Del_p.G118fs	p.G118fs	NM_001145065.1	NP_001138537.1					2	642	+								Q4W5M0|Q86V57	Frame_Shift_Del	DEL	ENST00000509176.1	37	c.354delT	CCDS47099.1																																																																																				0.358	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		8	34						8	34	---	---	---	---
RP11-242J7.1	0	broad.mit.edu	37	4	185536410	185536413	+	lincRNA	DEL	TTTG	TTTG	-	rs141045634	byFrequency	TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr4:185536410_185536413delTTTG	ENST00000522554.1	-	0	292																											CAAAGCCGATtttgtttgtttgtt	0.451														576	0.115016	0.0318	0.1974	5008	,	,		25388	0.0982		0.169	False		,,,				2504	0.1309					ENST00000522554.1																			0																																																			0							g.chr4:185536410_185536413delTTTG																													4.37:g.185536418_185536421delTTTG														0	292	-									RNA	DEL	ENST00000522554.1	37																																																																																						0.451	RP11-242J7.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000374071.1			4	5						4	5	---	---	---	---
HOXA13	3209	broad.mit.edu	37	7	27239774	27239775	+	5'Flank	DEL	GC	GC	-			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr7:27239774_27239775delGC	ENST00000222753.4	-	0	0				HOTTIP_ENST00000605136.1_RNA|HOTTIP_ENST00000421733.1_RNA|HOTTIP_ENST00000521028.2_RNA|HOTTIP_ENST00000472494.1_RNA	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13						artery morphogenesis (GO:0048844)|branching involved in prostate gland morphogenesis (GO:0060442)|embryonic forelimb morphogenesis (GO:0035115)|endothelial cell fate specification (GO:0060847)|endothelial cell morphogenesis (GO:0001886)|inner ear development (GO:0048839)|male genitalia development (GO:0030539)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of BMP signaling pathway (GO:0030510)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|ventricular septum development (GO:0003281)	intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						gcggcgcggggccggggcccga	0.733			T	NUP98	AML																																	ENST00000421733.1				Dom	yes		7	7p15-p14.2	3209		homeo box A13			L					0																																																	SO:0001631	upstream_gene_variant	100316868							g.chr7:27239774_27239775delGC		CCDS5412.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106031	ENSG00000106031		"""Homeoboxes / ANTP class : HOXL subclass"""	5102	protein-coding gene	gene with protein product		142959	"""homeo box A13"""	HOX1J, HOX1		1973146, 1358459	Standard	NM_000522		Approved		uc003szb.1	P31271	OTTHUMG00000023438		7.37:g.27239774_27239775delGC	Exception_encountered													0	167	+								A4D188|O43371	RNA	DEL	ENST00000222753.4	37		CCDS5412.1																																																																																				0.733	HOXA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358752.3			4	5						4	5	---	---	---	---
UBN2	254048	broad.mit.edu	37	7	138957129	138957130	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr7:138957129_138957130delAA	ENST00000473989.3	+	9	1658_1659	c.1658_1659delAA	c.(1657-1659)gaafs	p.E553fs	UBN2_ENST00000288561.8_Frame_Shift_Del_p.E470fs	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	553						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GTCATGCCTGAACAGCTATTTA	0.386																																						ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(1408-1410)gfs		ubinuclein 2																																				SO:0001589	frameshift_variant	254048							g.chr7:138957129_138957130delAA	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.1658_1659delAA	7.37:g.138957129_138957130delAA	ENSP00000418648:p.Glu553fs					UBN2_ENST00000473989.2_Frame_Shift_Del_p.E553fs	p.E470fs	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN			9	1658_1659	+			553					A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Frame_Shift_Del	DEL	ENST00000473989.3	37	c.1409_1410delAA	CCDS43655.2																																																																																				0.386	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		8	91						8	91	---	---	---	---
SECISBP2	79048	broad.mit.edu	37	9	91940847	91940847	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr9:91940847delG	ENST00000375807.3	+	4	539	c.468delG	c.(466-468)cagfs	p.Q157fs	SECISBP2_ENST00000470305.1_3'UTR|SECISBP2_ENST00000339901.4_Frame_Shift_Del_p.Q84fs|SECISBP2_ENST00000534113.2_Frame_Shift_Del_p.Q89fs	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	157					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CGTATGATCAGCAAAAGTTTG	0.343																																						ENST00000375807.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						c.(466-468)cafs		SECIS binding protein 2							105.0	100.0	102.0					9																	91940847		2203	4300	6503	SO:0001589	frameshift_variant	79048				translation	nucleus	mRNA 3'-UTR binding	g.chr9:91940847delG	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.468delG	9.37:g.91940847delG	ENSP00000364965:p.Gln157fs					SECISBP2_ENST00000470305.1_3'UTR|SECISBP2_ENST00000339901.4_Frame_Shift_Del_p.Q84fs|SECISBP2_ENST00000534113.2_Frame_Shift_Del_p.Q89fs	p.Q157fs	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN			4	539	+			157					F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Frame_Shift_Del	DEL	ENST00000375807.3	37	c.468delG	CCDS6683.1																																																																																				0.343	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		10	51						10	51	---	---	---	---
ANKRD30BP3	338579	broad.mit.edu	37	10	45652578	45652579	+	RNA	DEL	TA	TA	-	rs3780893	byFrequency	TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr10:45652578_45652579delTA	ENST00000427229.2	+	0	2092_2093																											AAGGAACATCTAAGATGCTCAC	0.366																																						ENST00000427229.2																			0																																																			338579							g.chr10:45652578_45652579delTA																													10.37:g.45652578_45652579delTA														0	2092_2093	+									RNA	DEL	ENST00000427229.2	37																																																																																						0.366	RP11-445N18.7-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000470688.1			2	4						2	4	---	---	---	---
CELSR1	9620	broad.mit.edu	37	22	46793727	46793728	+	Frame_Shift_Ins	INS	-	-	C	rs537639207	byFrequency	TCGA-HD-A6HZ-01A-12D-A31L-08	TCGA-HD-A6HZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b98da821-cf8d-4641-bd2b-f803d471428a	98833ed3-146e-475c-ab5a-2de6f2eeedbe	g.chr22:46793727_46793728insC	ENST00000262738.3	-	12	5543_5544	c.5544_5545insG	c.(5542-5547)gggacgfs	p.T1849fs		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1849	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TTGGTGGGCGTCCCCCCCATCC	0.599																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(5542-5547)ggcgccfs		cadherin, EGF LAG seven-pass G-type receptor 1																																				SO:0001589	frameshift_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46793727_46793728insC	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.5545dupG	22.37:g.46793734_46793734dupC	ENSP00000262738:p.Thr1849fs						p.A1849fs	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	12	5543_5544	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1849			Laminin G-like 2.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Frame_Shift_Ins	INS	ENST00000262738.3	37	c.5544_5545insG	CCDS14076.1																																																																																				0.599	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		9	21						9	21	---	---	---	---
