#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
PTENP1	11191	broad.mit.edu	37	9	33675379	33675379	+	RNA	SNP	C	C	A			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr9:33675379C>A	ENST00000532280.1	-	0	2118					NR_023917.1				phosphatase and tensin homolog pseudogene 1 (functional)																		AAAAAGGTCCCTTTTCAGTTT	0.318																																						ENST00000532280.1																			0																																																			0							g.chr9:33675379C>A	AF023139, BC038293, BY797336		9p13.3	2014-09-11	2014-01-16		ENSG00000237984	ENSG00000237984		"""-"""	9589	pseudogene	pseudogene		613531	"""phosphatase and tensin homolog pseudogene 1"""			9393738, 9620558	Standard	NR_023917		Approved	PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1	uc003zth.4		OTTHUMG00000000410		9.37:g.33675379C>A								NR_023917.1						0	2118	-									RNA	SNP	ENST00000532280.1	37																																																																																						0.318	PTENP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395145.1	NR_023917		5	230	1	0	1.23904e-05	1	1.36947e-05	5	230				
OR2G6	391211	broad.mit.edu	37	1	248685682	248685682	+	Silent	SNP	G	G	A			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr1:248685682G>A	ENST00000343414.4	+	1	767	c.735G>A	c.(733-735)ctG>ctA	p.L245L		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CGTCTCACCTGGTTGTGGTCA	0.438																																						ENST00000343414.4																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(733-735)ctG>ctA		olfactory receptor, family 2, subfamily G, member 6							116.0	117.0	117.0					1																	248685682		2203	4300	6503	SO:0001819	synonymous_variant	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685682G>A		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.735G>A	1.37:g.248685682G>A							p.L245L	NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	767	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	245					B2RP33	Silent	SNP	ENST00000343414.4	37	c.735G>A	CCDS31119.1																																																																																				0.438	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		12	614	0	0	0	1	0	12	614				
PJA2	9867	broad.mit.edu	37	5	108717235	108717235	+	Silent	SNP	T	T	C			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr5:108717235T>C	ENST00000361189.2	-	3	440	c.201A>G	c.(199-201)gaA>gaG	p.E67E	PJA2_ENST00000511624.1_5'UTR|PJA2_ENST00000361557.3_Silent_p.E67E	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	67					long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		CATCATCTAGTTCCAACACTT	0.323																																						ENST00000361189.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(199-201)gaA>gaG		praja ring finger 2, E3 ubiquitin protein ligase							97.0	90.0	92.0					5																	108717235		2202	4300	6502	SO:0001819	synonymous_variant	9867				long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding	g.chr5:108717235T>C	AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"""RING-type (C3HC4) zinc fingers"""	17481	protein-coding gene	gene with protein product			"""ring finger protein 131"", ""praja ring finger 2"""	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.201A>G	5.37:g.108717235T>C						PJA2_ENST00000361557.3_Silent_p.E67E|PJA2_ENST00000511624.1_5'UTR	p.E67E	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)	3	440	-		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)	67					A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Silent	SNP	ENST00000361189.2	37	c.201A>G	CCDS4099.1																																																																																				0.323	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250663.1	NM_014819		9	294	0	0	0	1	0	9	294				
CCT6P1	643253	broad.mit.edu	37	7	65226641	65226641	+	RNA	SNP	G	G	T			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr7:65226641G>T	ENST00000442266.1	+	0	1167				SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		AGGTTCTTGCGCAGAATTCTG	0.383																																						ENST00000442266.1																			0																																																			0							g.chr7:65226641G>T	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65226641G>T														0	1167	+									RNA	SNP	ENST00000442266.1	37																																																																																						0.383	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		4	129	1	0	0.150653	1	0.155593	4	129				
SFMBT1	51460	broad.mit.edu	37	3	52940182	52940182	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr3:52940182G>A	ENST00000394752.3	-	20	2789	c.2407C>T	c.(2407-2409)Cgg>Tgg	p.R803W	SFMBT1_ENST00000296295.6_Intron|SFMBT1_ENST00000358080.2_Missense_Mutation_p.R803W|SFMBT1_ENST00000394750.1_Missense_Mutation_p.R803W	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	803	SAM.				cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		CTGATGAACCGCACAACGTCT	0.418																																						ENST00000394752.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24						c.(2407-2409)Cgg>Tgg		Scm-like with four mbt domains 1							149.0	129.0	136.0					3																	52940182		2203	4300	6503	SO:0001583	missense	51460				regulation of transcription, DNA-dependent	nucleus		g.chr3:52940182G>A	AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.2407C>T	3.37:g.52940182G>A	ENSP00000378235:p.Arg803Trp					SFMBT1_ENST00000358080.2_Missense_Mutation_p.R803W|SFMBT1_ENST00000296295.6_Intron|SFMBT1_ENST00000394750.1_Missense_Mutation_p.R803W	p.R803W	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)	20	2789	-			803			SAM.		Q402F7|Q96C73|Q9Y4Q9	Missense_Mutation	SNP	ENST00000394752.3	37	c.2407C>T	CCDS2867.1	.	.	.	.	.	.	.	.	.	.	G	34	5.412970	0.96072	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000394750	T;T;T	0.50813	0.73;0.73;0.73	5.85	5.85	0.93711	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.64549	0.2608	L	0.45352	1.415	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.64816	-0.6318	10	0.87932	D	0	.	20.1649	0.98147	0.0:0.0:1.0:0.0	.	803	Q9UHJ3	SMBT1_HUMAN	W	803	ENSP00000378235:R803W;ENSP00000350789:R803W;ENSP00000378233:R803W	ENSP00000350789:R803W	R	-	1	2	SFMBT1	52915222	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	6.624000	0.74243	2.753000	0.94483	0.655000	0.94253	CGG		0.418	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329		5	375	0	0	0	1	0	5	375				
UBBP4	23666	broad.mit.edu	37	17	21731270	21731270	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr17:21731270T>C	ENST00000584755.1	+	2	969	c.572T>C	c.(571-573)aTc>aCc	p.I191T	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron					ubiquitin B pseudogene 4									p.I191T(3)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						ATCCCCCCGATCAGCAGAGGC	0.547																																						ENST00000584755.1																			3	Substitution - Missense(3)	p.I191T(3)	kidney(2)|endometrium(1)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(571-573)aTc>aCc																																						SO:0001583	missense	0							g.chr17:21731270T>C	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000584755.1:c.572T>C	17.37:g.21731270T>C	ENSP00000463647:p.Ile191Thr					UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR	p.I191T							2	969	+									Missense_Mutation	SNP	ENST00000584755.1	37	c.572T>C																																																																																					0.547	UBBP4-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000444585.1			5	406	0	0	0	1	0	5	406				
PCDHB6	56130	broad.mit.edu	37	5	140531966	140531966	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr5:140531966C>T	ENST00000231136.1	+	1	2128	c.2128C>T	c.(2128-2130)Cgg>Tgg	p.R710W	PCDHB6_ENST00000543635.1_Missense_Mutation_p.R574W	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	710					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)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTGGCGGTGCGGCTGTGCAG	0.677																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(2128-2130)Cgg>Tgg									75.0	89.0	84.0					5																	140531966		2198	4283	6481	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531966C>T	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.2128C>T	5.37:g.140531966C>T	ENSP00000231136:p.Arg710Trp					PCDHB6_ENST00000543635.1_Missense_Mutation_p.R574W	p.R710W	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2128	+			710					B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.2128C>T	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.796466	0.70567	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.17054	2.3;2.3	4.55	-1.63	0.08345	.	.	.	.	.	T	0.45418	0.1341	H	0.95004	3.61	0.22050	N	0.999398	D	0.89917	1.0	D	0.78314	0.991	T	0.23190	-1.0195	9	0.87932	D	0	.	5.5847	0.17267	0.6595:0.1597:0.0938:0.087	.	710	Q9Y5E3	PCDB6_HUMAN	W	574;710	ENSP00000438466:R574W;ENSP00000231136:R710W	ENSP00000231136:R710W	R	+	1	2	PCDHB6	140512150	0.000000	0.05858	0.919000	0.36401	0.965000	0.64279	-0.041000	0.12084	0.036000	0.15547	-0.323000	0.08544	CGG		0.677	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		8	947	0	0	0	1	0	8	947				
DNAH3	55567	broad.mit.edu	37	16	21051256	21051256	+	Missense_Mutation	SNP	G	G	A	rs141534193		TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr16:21051256G>A	ENST00000261383.3	-	33	4647	c.4648C>T	c.(4648-4650)Cgg>Tgg	p.R1550W	DNAH3_ENST00000415178.1_Missense_Mutation_p.R1550W	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1550	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.R1550W(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCCACTGTCCGGAACAAGGCC	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		23531	0.001		0.0	False		,,,				2504	0.0					ENST00000261383.3																			2	Substitution - Missense(2)	p.R1550W(2)	lung(2)	NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(4648-4650)Cgg>Tgg		dynein, axonemal, heavy chain 3		G	TRP/ARG	0,4402		0,0,2201	116.0	105.0	109.0		4648	4.5	1.0	16	dbSNP_134	109	6,8594	5.0+/-18.6	0,6,4294	yes	missense	DNAH3	NM_017539.1	101	0,6,6495	AA,AG,GG		0.0698,0.0,0.0461	probably-damaging	1550/4117	21051256	6,12996	2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21051256G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4648C>T	16.37:g.21051256G>A	ENSP00000261383:p.Arg1550Trp					DNAH3_ENST00000415178.1_Missense_Mutation_p.R1550W	p.R1550W	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	33	4647	-			1550			AAA 1 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.4648C>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.162239	0.78226	0.0	6.98E-4	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.15256	2.44;2.44	5.48	4.5	0.54988	ATPase, AAA+ type, core (1);	0.000000	0.64402	D	0.000001	T	0.62478	0.2431	H	0.99758	4.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79614	-0.1730	10	0.87932	D	0	.	13.3483	0.60587	0.0:0.0:0.6813:0.3187	.	1550	Q8TD57	DYH3_HUMAN	W	1550	ENSP00000261383:R1550W;ENSP00000394245:R1550W	ENSP00000261383:R1550W	R	-	1	2	DNAH3	20958757	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.607000	0.54102	1.351000	0.45789	0.650000	0.86243	CGG		0.483	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		7	326	0	0	0	1	0	7	326				
IRF8	3394	broad.mit.edu	37	16	85942713	85942713	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr16:85942713C>T	ENST00000268638.5	+	3	714	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	IRF8_ENST00000563180.1_Missense_Mutation_p.R98W	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	98					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				AGTGACGGACCGGTCCCAACT	0.458																																						ENST00000268638.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(292-294)Cgg>Tgg		interferon regulatory factor 8							64.0	63.0	64.0					16																	85942713		2198	4300	6498	SO:0001583	missense	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85942713C>T	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"""interferon consensus sequence binding protein 1"""	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.292C>T	16.37:g.85942713C>T	ENSP00000268638:p.Arg98Trp					IRF8_ENST00000563180.1_Missense_Mutation_p.R98W	p.R98W	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN			3	714	+		Prostate(104;0.0771)	98					A0AV82	Missense_Mutation	SNP	ENST00000268638.5	37	c.292C>T	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969719	0.74246	.	.	ENSG00000140968	ENST00000268638	D	0.98028	-4.67	4.97	4.97	0.65823	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (3);	0.125725	0.53938	D	0.000052	D	0.98723	0.9571	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99201	1.0873	10	0.72032	D	0.01	-33.9604	12.8225	0.57700	0.2736:0.7264:0.0:0.0	.	98;98	B2R8V7;Q02556	.;IRF8_HUMAN	W	98	ENSP00000268638:R98W	ENSP00000268638:R98W	R	+	1	2	IRF8	84500214	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.266000	0.43320	2.485000	0.83878	0.555000	0.69702	CGG		0.458	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		6	306	0	0	0	1	0	6	306				
ZNF626	199777	broad.mit.edu	37	19	20807121	20807121	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr19:20807121G>A	ENST00000601440.1	-	4	1708	c.1562C>T	c.(1561-1563)cCt>cTt	p.P521L	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	521					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TAAGGTGTGAGGACCGCTTGA	0.378																																						ENST00000601440.1																			0				breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(1561-1563)cCt>cTt		zinc finger protein 626							51.0	48.0	49.0					19																	20807121		2138	4266	6404	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807121G>A	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1562C>T	19.37:g.20807121G>A	ENSP00000469958:p.Pro521Leu					CTC-513N18.7_ENST00000595094.1_lincRNA	p.P521L	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			4	1708	-			521					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.1562C>T	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	3.487	-0.104716	0.06967	.	.	ENSG00000188171	ENST00000392298;ENST00000453075	.	.	.	0.832	-0.484	0.12071	.	.	.	.	.	T	0.16557	0.0398	N	0.12746	0.255	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.19712	-1.0297	8	0.45353	T	0.12	.	2.1362	0.03763	0.3146:0.348:0.3374:0.0	.	521	Q68DY1	ZN626_HUMAN	L	521;445	.	ENSP00000376118:P521L	P	-	2	0	ZNF626	20598961	0.000000	0.05858	0.013000	0.15412	0.013000	0.08279	-4.356000	0.00247	0.171000	0.19730	0.174000	0.16983	CCT		0.378	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		6	404	0	0	0	1	0	6	404				
GNAS	2778	broad.mit.edu	37	20	57484420	57484420	+	Missense_Mutation	SNP	C	C	T	rs11554273		TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr20:57484420C>T	ENST00000371085.3	+	8	1025	c.601C>T	c.(601-603)Cgt>Tgt	p.R201C	GNAS_ENST00000371102.4_Missense_Mutation_p.R830C|GNAS_ENST00000306090.10_Missense_Mutation_p.R187C|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.R187C|GNAS_ENST00000371100.4_Missense_Mutation_p.R844C|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.R186C|GNAS_ENST00000354359.7_Missense_Mutation_p.R202C|GNAS_ENST00000464624.2_3'UTR	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	201			R -> C (in MAS and somatotrophinoma; dbSNP:rs11554273). {ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> G (in MAS). {ECO:0000269|PubMed:10571700}.|R -> H (in MAS, somatotrophinoma and AIMAH1). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:1594625, ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> L (in non-MAS endocrine tumors). {ECO:0000269|PubMed:7751320}.|R -> S (in AIMAH1, pituitary tumor and polyostotic fibrous dysplasia). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:8766942, ECO:0000269|PubMed:9267696}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R201C(228)|p.R844C(9)|p.R201S(5)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCTTCGCTGCCGTGTCCTGAC	0.428			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		242	Substitution - Missense(242)	p.R201C(228)|p.R844C(9)|p.R201S(5)	pituitary(141)|pancreas(35)|large_intestine(14)|ovary(12)|thyroid(10)|adrenal_gland(7)|biliary_tract(6)|parathyroid(5)|liver(3)|kidney(3)|testis(2)|upper_aerodigestive_tract(2)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)	adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(2530-2532)Cgt>Tgt		GNAS complex locus							80.0	78.0	79.0					20																	57484420		2203	4300	6503	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57484420C>T	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.601C>T	20.37:g.57484420C>T	ENSP00000360126:p.Arg201Cys	TSP Lung(22;0.16)				GNAS_ENST00000265620.7_Missense_Mutation_p.R186C|GNAS_ENST00000371095.3_Missense_Mutation_p.R187C|GNAS_ENST00000371102.4_Missense_Mutation_p.R830C|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.R202C|GNAS_ENST00000371085.3_Missense_Mutation_p.R201C|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R187C|GNAS_ENST00000313949.7_3'UTR	p.R844C	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		8	3082	+	all_lung(29;0.0104)		201					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	37	c.2530C>T	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215896	0.79352	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99466	-5.95;-5.95;-5.95;-5.95;-5.95;-2.99;-5.95	5.53	4.53	0.55603	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99775	0.9907	H	0.99732	4.735	0.80722	D	1	D;D;D;D	0.89917	0.999;0.983;0.979;1.0	D;P;P;D	0.97110	0.939;0.845;0.643;1.0	D	0.96814	0.9599	10	0.87932	D	0	.	13.0593	0.58997	0.2437:0.7563:0.0:0.0	rs11554273	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	C	844;830;187;201;202;186;187	ENSP00000360141:R844C;ENSP00000360143:R830C;ENSP00000360136:R187C;ENSP00000360126:R201C;ENSP00000346328:R202C;ENSP00000265620:R186C;ENSP00000304472:R187C	ENSP00000265620:R186C	R	+	1	0	GNAS	56917815	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	4.055000	0.57441	2.596000	0.87737	0.563000	0.77884	CGT		0.428	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516		5	305	0	0	0	1	0	5	305				
HNRNPCL1	343069	broad.mit.edu	37	1	12907820	12907820	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr1:12907820G>T	ENST00000317869.6	-	2	548	c.323C>A	c.(322-324)tCt>tAt	p.S108Y		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	108						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CAAGTCAAAAGAGGAGCCGTA	0.493																																						ENST00000317869.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						c.(322-324)tCt>tAt		heterogeneous nuclear ribonucleoprotein C-like 1							106.0	101.0	103.0					1																	12907820		2203	4300	6503	SO:0001583	missense	343069							g.chr1:12907820G>T	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.323C>A	1.37:g.12907820G>T	ENSP00000365370:p.Ser108Tyr						p.S108Y	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1					2	548	-								B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.323C>A	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	5.656	0.305586	0.10678	.	.	ENSG00000179172	ENST00000317869	T	0.11385	2.78	0.926	0.926	0.19430	.	0.306916	0.25091	U	0.033219	T	0.10723	0.0262	M	0.73962	2.25	0.43508	D	0.995763	P	0.37061	0.58	B	0.37601	0.254	T	0.12656	-1.0539	10	0.13470	T	0.59	.	5.218	0.15354	0.0:0.0:1.0:0.0	.	108	O60812	HNRCL_HUMAN	Y	108	ENSP00000365370:S108Y	ENSP00000365370:S108Y	S	-	2	0	HNRNPCL1	12830407	1.000000	0.71417	0.965000	0.40720	0.056000	0.15407	2.787000	0.47798	0.814000	0.34374	0.173000	0.16961	TCT		0.493	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		10	535	1	0	0.335167	1	0.340573	10	535				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		5	306	1	0	0.000602214	1	0.000654129	5	306				
IPCEF1	26034	broad.mit.edu	37	6	154489200	154489200	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr6:154489200G>A	ENST00000265198.4	-	11	1111	c.956C>T	c.(955-957)tCa>tTa	p.S319L	IPCEF1_ENST00000422970.2_Missense_Mutation_p.S320L|IPCEF1_ENST00000519344.1_Missense_Mutation_p.S291L|IPCEF1_ENST00000367220.4_Missense_Mutation_p.S320L|OPRM1_ENST00000337049.4_Intron	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1	Q8WWN9	ICEF1_HUMAN	interaction protein for cytohesin exchange factors 1	319					oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						TTGCTCTAATGATTTGTACAG	0.358																																						ENST00000265198.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						c.(955-957)tCa>tTa		interaction protein for cytohesin exchange factors 1							207.0	201.0	203.0					6																	154489200		2203	4300	6503	SO:0001583	missense	26034							g.chr6:154489200G>A	AB007863	CCDS5245.1, CCDS47509.1	6q25.2	2013-01-10			ENSG00000074706	ENSG00000074706		"""Pleckstrin homology (PH) domain containing"""	21204	protein-coding gene	gene with protein product	"""phosphoinositide binding protein PIP3-E"""					11804589, 19756519	Standard	NM_001130699		Approved	PIP3-E, KIAA0403	uc021zhc.1	Q8WWN9	OTTHUMG00000015872	ENST00000265198.4:c.956C>T	6.37:g.154489200G>A	ENSP00000265198:p.Ser319Leu					IPCEF1_ENST00000519344.1_Missense_Mutation_p.S291L|OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000422970.2_Missense_Mutation_p.S320L|IPCEF1_ENST00000367220.4_Missense_Mutation_p.S320L	p.S319L	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1					11	1111	-								A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8	Missense_Mutation	SNP	ENST00000265198.4	37	c.956C>T	CCDS5245.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068581	0.76301	.	.	ENSG00000074706	ENST00000265198;ENST00000422970;ENST00000367220;ENST00000519344	T;T;T;T	0.15718	2.4;2.4;2.4;2.42	5.57	5.57	0.84162	.	0.130451	0.52532	D	0.000063	T	0.31104	0.0786	M	0.67953	2.075	0.27301	N	0.957577	D;D;D	0.76494	0.997;0.999;0.999	P;D;D	0.71656	0.882;0.973;0.974	T	0.05370	-1.0889	10	0.46703	T	0.11	-17.5544	19.5657	0.95391	0.0:0.0:1.0:0.0	.	319;320;291	Q8WWN9;Q8WWN9-2;G3V132	ICEF1_HUMAN;.;.	L	319;320;320;291	ENSP00000265198:S319L;ENSP00000394751:S320L;ENSP00000356189:S320L;ENSP00000430287:S291L	ENSP00000265198:S319L	S	-	2	0	IPCEF1	154530892	1.000000	0.71417	0.953000	0.39169	0.716000	0.41182	5.784000	0.68990	2.630000	0.89119	0.591000	0.81541	TCA		0.358	IPCEF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042789.2	NM_001130699		17	1366	0	0	0	1	0	17	1366				
NLRP2	55655	broad.mit.edu	37	19	55494521	55494521	+	Silent	SNP	C	C	T	rs377688731		TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr19:55494521C>T	ENST00000543010.1	+	6	1598	c.1455C>T	c.(1453-1455)gaC>gaT	p.D485D	NLRP2_ENST00000538819.1_Silent_p.D461D|NLRP2_ENST00000263437.6_Silent_p.D482D|NLRP2_ENST00000391721.4_Silent_p.D461D|NLRP2_ENST00000339757.7_Silent_p.D463D|NLRP2_ENST00000427260.2_Silent_p.D462D|NLRP2_ENST00000448584.2_Silent_p.D485D|NLRP2_ENST00000537859.1_Silent_p.D463D	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	485	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGTTCCTGGACGGAGACATCC	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		16785	0.0		0.0	False		,,,				2504	0.001					ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(1453-1455)gaC>gaT		NLR family, pyrin domain containing 2		C	,,,	0,4406		0,0,2203	36.0	36.0	36.0		1455,1389,1386,1455	0.8	0.0	19		36	2,8592		0,2,4295	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NLRP2	NM_001174081.1,NM_001174082.1,NM_001174083.1,NM_017852.3	,,,	0,2,6498	TT,TC,CC		0.0233,0.0,0.0154	,,,	485/1063,463/1041,462/1040,485/1063	55494521	2,12998	2203	4297	6500	SO:0001819	synonymous_variant	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494521C>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1455C>T	19.37:g.55494521C>T						NLRP2_ENST00000339757.7_Silent_p.D463D|NLRP2_ENST00000538819.1_Silent_p.D461D|NLRP2_ENST00000427260.2_Silent_p.D462D|NLRP2_ENST00000263437.6_Silent_p.D482D|NLRP2_ENST00000537859.1_Silent_p.D463D|NLRP2_ENST00000391721.4_Silent_p.D461D|NLRP2_ENST00000448584.2_Silent_p.D485D	p.D485D	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	1598	+			485			NACHT.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	c.1455C>T	CCDS12913.1																																																																																				0.617	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		5	274	0	0	0	1	0	5	274				
HSPH1	10808	broad.mit.edu	37	13	31712990	31712990	+	Silent	SNP	C	C	T			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr13:31712990C>T	ENST00000320027.5	-	16	2480	c.2136G>A	c.(2134-2136)cgG>cgA	p.R712R	HSPH1_ENST00000380406.5_Silent_p.R671R|HSPH1_ENST00000380405.4_Silent_p.R668R|HSPH1_ENST00000445273.2_Silent_p.R714R|HSPH1_ENST00000429785.2_Silent_p.R531R	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	712					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		ACATTTTTGGCCGTTCTTCAG	0.343																																						ENST00000320027.5																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(2134-2136)cgG>cgA		heat shock 105kDa/110kDa protein 1							91.0	90.0	90.0					13																	31712990		2203	4299	6502	SO:0001819	synonymous_variant	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31712990C>T	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.2136G>A	13.37:g.31712990C>T						HSPH1_ENST00000429785.2_Silent_p.R531R|HSPH1_ENST00000445273.2_Silent_p.R714R|HSPH1_ENST00000380405.4_Silent_p.R668R|HSPH1_ENST00000380406.5_Silent_p.R671R	p.R712R	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	16	2480	-		Lung SC(185;0.0257)	712					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Silent	SNP	ENST00000320027.5	37	c.2136G>A	CCDS9340.1																																																																																				0.343	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			7	640	0	0	0	1	0	7	640				
SPATA31D1	389763	broad.mit.edu	37	9	84606551	84606551	+	Missense_Mutation	SNP	T	T	C	rs376549982		TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr9:84606551T>C	ENST00000344803.2	+	4	1213	c.1166T>C	c.(1165-1167)tTt>tCt	p.F389S		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	389					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCTGAGGCCTTTTTAGGGGGG	0.473																																						ENST00000344803.2																			0											c.(1165-1167)tTt>tCt		SPATA31 subfamily D, member 1							109.0	96.0	100.0					9																	84606551		1844	4089	5933	SO:0001583	missense	389763							g.chr9:84606551T>C		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1166T>C	9.37:g.84606551T>C	ENSP00000341988:p.Phe389Ser						p.F389S	NM_001001670.2	NP_001001670.1					4	1213	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.1166T>C	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.591898	0.00864	.	.	ENSG00000214929	ENST00000344803	T	0.04156	3.69	2.87	-2.57	0.06248	.	2.194420	0.02232	N	0.064965	T	0.01353	0.0044	N	0.00313	-1.665	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42224	-0.9464	10	0.19590	T	0.45	-2.0064	4.1319	0.10152	0.1638:0.4916:0.0:0.3445	.	389	Q6ZQQ2	F75D1_HUMAN	S	389	ENSP00000341988:F389S	ENSP00000341988:F389S	F	+	2	0	FAM75D1	83796371	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.302000	0.08221	-0.612000	0.05701	-0.734000	0.03567	TTT		0.473	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		7	224	0	0	0	1	0	7	224				
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429		TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657																																						ENST00000391413.2																			1	Substitution - Missense(1)	p.L161V(1)	prostate(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(481-483)Ctg>Gtg		keratin associated protein 4-11							17.0	21.0	20.0					17																	39274087		692	1589	2281	SO:0001583	missense	653240					keratin filament		g.chr17:39274087G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.481C>G	17.37:g.39274087G>C	ENSP00000375232:p.Leu161Val						p.L161V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	519	-		Breast(137;0.000496)	161			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.481C>G	CCDS45675.1	249	0.11401098901098901	67	0.13617886178861788	40	0.11049723756906077	104	0.18181818181818182	38	0.05013192612137203	.	1.347	-0.592411	0.03799	.	.	ENSG00000212721	ENST00000391413	T	0.00614	6.21	4.35	0.986	0.19784	.	.	.	.	.	T	0.00012	0.0000	L	0.31752	0.955	0.80722	P	0.0	B	0.30068	0.267	B	0.18871	0.023	T	0.19063	-1.0317	8	0.11794	T	0.64	.	5.8913	0.18915	0.1751:0.0:0.6569:0.168	.	161	Q9BYQ6	KR411_HUMAN	V	161	ENSP00000375232:L161V	ENSP00000375232:L161V	L	-	1	2	KRTAP4-11	36527613	0.671000	0.27521	0.912000	0.35992	0.970000	0.65996	0.971000	0.29396	0.348000	0.23949	0.609000	0.83330	CTG		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			5	63	0	0	0	1	0	5	63				
DNAJB1	3337	broad.mit.edu	37	19	14627503	14627503	+	Silent	SNP	C	C	T			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr19:14627503C>T	ENST00000254322.2	-	2	637	c.567G>A	c.(565-567)cgG>cgA	p.R189R	DNAJB1_ENST00000396969.4_Silent_p.R89R	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	189					chaperone cofactor-dependent protein refolding (GO:0070389)|chaperone mediated protein folding requiring cofactor (GO:0051085)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		CGGGGTTTAGCCGCTTGTGGG	0.493																																						ENST00000254322.2																			0				NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16						c.(565-567)cgG>cgA		DnaJ (Hsp40) homolog, subfamily B, member 1							165.0	165.0	165.0					19																	14627503		2203	4300	6503	SO:0001819	synonymous_variant	3337				chaperone cofactor-dependent protein refolding|response to unfolded protein	cytoplasm|nucleolus	heat shock protein binding|unfolded protein binding	g.chr19:14627503C>T	D49547	CCDS12312.1, CCDS74295.1	19p13.12	2014-08-12			ENSG00000132002	ENSG00000132002		"""Heat shock proteins / DNAJ (HSP40)"""	5270	protein-coding gene	gene with protein product	"""radial spoke 16 homolog B (Chlamydomonas)"""	604572		HSPF1		8975727, 8250930	Standard	XM_006722733		Approved	Hsp40, Sis1, RSPH16B	uc002myz.1	P25685	OTTHUMG00000183289	ENST00000254322.2:c.567G>A	19.37:g.14627503C>T						DNAJB1_ENST00000396969.4_Silent_p.R89R	p.R189R	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN		GBM - Glioblastoma multiforme(1328;0.0476)	2	637	-			189					B4DX52	Silent	SNP	ENST00000254322.2	37	c.567G>A	CCDS12312.1																																																																																				0.493	DNAJB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465987.1	NM_006145		7	778	0	0	0	1	0	7	778				
KDF1	126695	broad.mit.edu	37	1	27278809	27278809	+	Silent	SNP	C	C	T			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr1:27278809C>T	ENST00000320567.5	-	2	151	c.63G>A	c.(61-63)cgG>cgA	p.R21R		NM_152365.2	NP_689578.2	Q8NAX2	KDF1_HUMAN		21	Pro-rich.				developmental growth (GO:0048589)|establishment of skin barrier (GO:0061436)|keratinocyte development (GO:0003334)|limb epidermis development (GO:0060887)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|positive regulation of epidermal cell differentiation (GO:0045606)|regulation of epidermal cell division (GO:0010482)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		GCTCTGTTGGCCGCTCCCACG	0.647																																						ENST00000320567.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(61-63)cgG>cgA		chromosome 1 open reading frame 172							33.0	36.0	35.0					1																	27278809		2168	4233	6401	SO:0001819	synonymous_variant	126695							g.chr1:27278809C>T																												ENST00000320567.5:c.63G>A	1.37:g.27278809C>T							p.R21R	NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)	2	151	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	21			Pro-rich.		Q5QP32|Q8N0S7	Silent	SNP	ENST00000320567.5	37	c.63G>A	CCDS293.1																																																																																				0.647	C1orf172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012340.1			5	279	0	0	0	1	0	5	279				
NCOR1P1	149934	broad.mit.edu	37	20	26084295	26084295	+	RNA	SNP	C	C	T	rs76611503		TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr20:26084295C>T	ENST00000478176.1	-	0	162					NR_003678.1		Q9H4R4	CT191_HUMAN	nuclear receptor corepressor 1 pseudogene 1									p.G41R(1)									TGTTTGCCTCCAAATGCTGGA	0.373																																						ENST00000478176.1																			1	Substitution - Missense(1)	p.G41R(1)	kidney(1)																	42.0	30.0	34.0					20																	26084295		692	1590	2282			0							g.chr20:26084295C>T	AL391119		20p11.1	2011-09-16	2011-09-16	2011-09-16	ENSG00000240108	ENSG00000240108			16724	pseudogene	pseudogene			"""chromosome 20 open reading frame 191"""	C20orf191			Standard	NR_003678		Approved	bB329D4.2	uc002wvj.5	Q9H4R4	OTTHUMG00000032145		20.37:g.26084295C>T								NR_003678.1						0	162	-								A2RUA0	RNA	SNP	ENST00000478176.1	37																																																																																						0.373	NCOR1P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000078478.2			5	373	0	0	0	1	0	5	373				
F8	2157	broad.mit.edu	37	X	154130395	154130395	+	Missense_Mutation	SNP	G	G	A	rs137852453		TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chrX:154130395G>A	ENST00000360256.4	-	19	6246	c.6046C>T	c.(6046-6048)Cgg>Tgg	p.R2016W		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2016	F5/8 type A 3.|Plastocyanin-like 6.		R -> P (in HEMA; severe familial). {ECO:0000269|PubMed:11341489}.|R -> W (in HEMA; severe/moderate/mild). {ECO:0000269|PubMed:10404764, ECO:0000269|PubMed:11341489, ECO:0000269|PubMed:11442643, ECO:0000269|PubMed:11554935, ECO:0000269|PubMed:11858487, ECO:0000269|PubMed:15810915, ECO:0000269|PubMed:7794769, ECO:0000269|PubMed:8644728, ECO:0000269|PubMed:9886318}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CATTCCACCCGCCAAATTCCA	0.418																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CM082650|CM910144	F8	M	rs137852453	c.(6046-6048)Cgg>Tgg		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						121.0	104.0	110.0					X																	154130395		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154130395G>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.6046C>T	X.37:g.154130395G>A	ENSP00000353393:p.Arg2016Trp						p.R2016W	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			19	6246	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		2016		R -> P (in HEMA; severe familial).|R -> W (in HEMA; severe/moderate/mild).	F5/8 type A 3.|Plastocyanin-like 6.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.6046C>T	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	g	19.00	3.742748	0.69418	.	.	ENSG00000185010	ENST00000360256	D	0.99656	-6.31	5.25	3.32	0.38043	Cupredoxin (2);Multicopper oxidase, type 2 (1);	0.230205	0.37955	N	0.001866	D	0.99263	0.9743	L	0.50333	1.59	0.42866	D	0.994122	D	0.89917	1.0	D	0.91635	0.999	D	0.99075	1.0835	10	0.62326	D	0.03	-4.4738	10.5809	0.45255	0.0:0.0:0.6532:0.3468	rs28937298	2016	P00451	FA8_HUMAN	W	2016	ENSP00000353393:R2016W	ENSP00000353393:R2016W	R	-	1	2	F8	153783589	1.000000	0.71417	0.985000	0.45067	0.993000	0.82548	1.834000	0.39171	1.093000	0.41377	0.538000	0.68166	CGG		0.418	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			7	425	0	0	0	1	0	7	425				
DHX30	22907	broad.mit.edu	37	3	47891156	47891156	+	Silent	SNP	T	T	C			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr3:47891156T>C	ENST00000445061.1	+	21	3635	c.3228T>C	c.(3226-3228)taT>taC	p.Y1076Y	DHX30_ENST00000446256.2_Silent_p.Y1037Y|DHX30_ENST00000348968.4_Silent_p.Y1048Y|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000457607.1_Silent_p.Y1104Y	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	1076						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GGCTGACGTATTTCATGGCAG	0.627																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(3109-3111)taT>taC		DEAH (Asp-Glu-Ala-His) box helicase 30							88.0	80.0	83.0					3																	47891156		2203	4300	6503	SO:0001819	synonymous_variant	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47891156T>C	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.3228T>C	3.37:g.47891156T>C						DHX30_ENST00000457607.1_Silent_p.Y1104Y|DHX30_ENST00000445061.1_Silent_p.Y1076Y|DHX30_ENST00000348968.4_Silent_p.Y1048Y	p.Y1037Y	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	22	3683	+			1076					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Silent	SNP	ENST00000445061.1	37	c.3111T>C	CCDS2759.1																																																																																				0.627	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		13	283	0	0	0	1	0	13	283				
ATP4A	495	broad.mit.edu	37	19	36046466	36046466	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr19:36046466C>T	ENST00000262623.3	-	14	2061	c.2033G>A	c.(2032-2034)gGc>gAc	p.G678D		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	678					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CAGCTGCATGCCATTGATCAC	0.652																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(2032-2034)gGc>gAc		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						58.0	60.0	59.0					19																	36046466		2203	4299	6502	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36046466C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2033G>A	19.37:g.36046466C>T	ENSP00000262623:p.Gly678Asp						p.G678D	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		14	2061	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		678					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.2033G>A	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.765544	0.90020	.	.	ENSG00000105675	ENST00000262623	D	0.96491	-4.03	4.97	4.97	0.65823	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.64402	D	0.000002	D	0.99096	0.9689	H	0.99626	4.665	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98616	1.0665	10	0.87932	D	0	.	15.7722	0.78180	0.0:1.0:0.0:0.0	.	678	P20648	ATP4A_HUMAN	D	678	ENSP00000262623:G678D	ENSP00000262623:G678D	G	-	2	0	ATP4A	40738306	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.651000	0.83577	2.595000	0.87683	0.462000	0.41574	GGC		0.652	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		4	206	0	0	0	1	0	4	206				
ARNT2	9915	broad.mit.edu	37	15	80845046	80845046	+	Silent	SNP	G	G	A			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr15:80845046G>A	ENST00000303329.4	+	10	1185	c.1020G>A	c.(1018-1020)cgG>cgA	p.R340R	RP11-379K22.2_ENST00000558208.1_RNA|ARNT2_ENST00000533983.1_Silent_p.R329R|ARNT2_ENST00000527771.1_Silent_p.R329R	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	340	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			TCTTATCCCGGCATAACTCCG	0.483																																						ENST00000533983.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35						c.(985-987)cgG>cgA		aryl-hydrocarbon receptor nuclear translocator 2							169.0	142.0	151.0					15																	80845046		2203	4300	6503	SO:0001819	synonymous_variant	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80845046G>A	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.1020G>A	15.37:g.80845046G>A						ARNT2_ENST00000527771.1_Silent_p.R329R|ARNT2_ENST00000303329.4_Silent_p.R340R	p.R329R			Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		11	1326	+			340			PAS 2.		B4DIS7|O15024|Q8IYC2	Silent	SNP	ENST00000303329.4	37	c.987G>A	CCDS32307.1																																																																																				0.483	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			5	378	0	0	0	1	0	5	378				
SEPT3	55964	broad.mit.edu	37	22	42388741	42388741	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr22:42388741G>A	ENST00000396426.3	+	8	1094	c.839G>A	c.(838-840)cGa>cAa	p.R280Q	SEPT3_ENST00000406029.1_Missense_Mutation_p.R216Q|SEPT3_ENST00000328414.8_3'UTR|SEPT3_ENST00000291236.11_Missense_Mutation_p.R216Q|SEPT3_ENST00000396425.3_Missense_Mutation_p.R280Q	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3	280	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cell junction (GO:0030054)|septin complex (GO:0031105)|synapse (GO:0045202)	GTP binding (GO:0005525)			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						GTCCTCGGCCGAAAAACTCCA	0.488																																						ENST00000396425.3																			0				breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(838-840)cGa>cAa		septin 3							124.0	102.0	110.0					22																	42388741		2203	4300	6503	SO:0001583	missense	55964				cell cycle|cytokinesis	cell junction|septin complex	GTP binding	g.chr22:42388741G>A	AF285107	CCDS14026.2, CCDS14027.2	22q13.2	2013-01-21			ENSG00000100167	ENSG00000100167		"""Septins"""	10750	protein-coding gene	gene with protein product		608314		SEP3			Standard	NM_019106		Approved		uc003bbr.4	Q9UH03	OTTHUMG00000030494	ENST00000396426.3:c.839G>A	22.37:g.42388741G>A	ENSP00000379704:p.Arg280Gln					SEPT3_ENST00000291236.11_Missense_Mutation_p.R216Q|SEPT3_ENST00000328414.8_3'UTR|SEPT3_ENST00000406029.1_Missense_Mutation_p.R216Q|SEPT3_ENST00000396426.3_Missense_Mutation_p.R280Q	p.R280Q	NM_019106.5	NP_061979.3	Q9UH03	SEPT3_HUMAN			8	970	+			280					B1AHR0|Q2NKJ7|Q59GF7|Q6IBZ6|Q8N3P3|Q9HD35	Missense_Mutation	SNP	ENST00000396426.3	37	c.839G>A	CCDS14026.2	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520960	0.85495	.	.	ENSG00000100167	ENST00000396426;ENST00000406029;ENST00000396425;ENST00000291236	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.87985	0.6316	H	0.95645	3.7	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.964;0.995;0.998;0.998	D;P;D;D;D	0.79108	0.988;0.595;0.918;0.986;0.992	D	0.90781	0.4679	10	0.87932	D	0	.	19.9633	0.97258	0.0:0.0:1.0:0.0	.	216;267;216;280;280	B7Z686;A8K1X2;B1AHR1;Q9UH03-2;Q9UH03	.;.;.;.;SEPT3_HUMAN	Q	280;216;280;216	ENSP00000379704:R280Q;ENSP00000383956:R216Q;ENSP00000379703:R280Q;ENSP00000291236:R216Q	ENSP00000291236:R216Q	R	+	2	0	SEPT3	40718687	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	9.766000	0.98957	2.805000	0.96524	0.460000	0.39030	CGA		0.488	SEPT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322051.1	NM_145734		3	62	0	0	0	1	0	3	62				
ERN1	2081	broad.mit.edu	37	17	62130655	62130655	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr17:62130655G>A	ENST00000433197.3	-	16	2125	c.2030C>T	c.(2029-2031)gCc>gTc	p.A677V		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GTGGAGGTGGGCCAGGCCCGA	0.612																																						ENST00000433197.2																			0				central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						c.(2029-2031)gCc>gTc		endoplasmic reticulum to nucleus signaling 1							56.0	62.0	60.0					17																	62130655		2039	4193	6232	SO:0001583	missense	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62130655G>A	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.2030C>T	17.37:g.62130655G>A	ENSP00000401445:p.Ala677Val						p.A677V	NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN			16	2125	-			677			Protein kinase.			Missense_Mutation	SNP	ENST00000433197.3	37	c.2030C>T	CCDS45762.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668806	0.88348	.	.	ENSG00000178607	ENST00000433197	T	0.67345	-0.26	5.69	5.69	0.88448	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.058929	0.64402	D	0.000002	T	0.62332	0.2419	L	0.42744	1.35	0.80722	D	1	P	0.44690	0.841	B	0.40864	0.342	T	0.59434	-0.7455	10	0.25751	T	0.34	-24.0047	19.8084	0.96538	0.0:0.0:1.0:0.0	.	677	O75460	ERN1_HUMAN	V	677	ENSP00000401445:A677V	ENSP00000401445:A677V	A	-	2	0	ERN1	59484387	1.000000	0.71417	0.987000	0.45799	0.964000	0.63967	7.467000	0.80930	2.687000	0.91594	0.462000	0.41574	GCC		0.612	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		4	174	0	0	0	1	0	4	174				
AMPD3	272	broad.mit.edu	37	11	10523050	10523050	+	Silent	SNP	G	G	A			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr11:10523050G>A	ENST00000396554.3	+	12	2123	c.1782G>A	c.(1780-1782)ccG>ccA	p.P594P	AMPD3_ENST00000530864.1_3'UTR|AMPD3_ENST00000444303.2_Silent_p.P426P	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	585					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TGTTCCGGCCGCACTGTGGGG	0.632																																						ENST00000444303.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25						c.(1276-1278)ccG>ccA		adenosine monophosphate deaminase 3							50.0	42.0	44.0					11																	10523050		2201	4294	6495	SO:0001819	synonymous_variant	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10523050G>A	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.1782G>A	11.37:g.10523050G>A						AMPD3_ENST00000530864.1_3'UTR|AMPD3_ENST00000396554.3_Silent_p.P594P	p.P426P	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	11	1750	+			585					A0AUX0|B7Z2S2|B7Z763|B7Z877	Silent	SNP	ENST00000396554.3	37	c.1278G>A	CCDS7802.1																																																																																				0.632	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		4	172	0	0	0	1	0	4	172				
DENND4B	9909	broad.mit.edu	37	1	153907303	153907303	+	Silent	SNP	C	C	T	rs557071025	byFrequency	TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr1:153907303C>T	ENST00000361217.4	-	18	3124	c.2706G>A	c.(2704-2706)caG>caA	p.Q902Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	902	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgctgctgttgctgct	0.642																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2704-2706)caG>caA		DENN/MADD domain containing 4B							30.0	39.0	36.0					1																	153907303		2184	4281	6465	SO:0001819	synonymous_variant	9909							g.chr1:153907303C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2706G>A	1.37:g.153907303C>T							p.Q902Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3124	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		902			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2706G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		6	248	0	0	0	1	0	6	248				
BIRC6	57448	broad.mit.edu	37	2	32706462	32706462	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr2:32706462G>A	ENST00000421745.2	+	38	7617	c.7483G>A	c.(7483-7485)Gac>Aac	p.D2495N		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2495					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AATGGAAGTTGACATTGATCC	0.383																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(7483-7485)Gac>Aac		baculoviral IAP repeat containing 6							85.0	88.0	87.0					2																	32706462		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32706462G>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.7483G>A	2.37:g.32706462G>A	ENSP00000393596:p.Asp2495Asn						p.D2495N	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			38	7617	+	Acute lymphoblastic leukemia(172;0.155)		2495					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.7483G>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945596	0.73672	.	.	ENSG00000115760	ENST00000421745	T	0.76839	-1.05	5.31	5.31	0.75309	.	0.059209	0.64402	D	0.000005	T	0.77877	0.4196	N	0.24115	0.695	0.53688	D	0.999977	D	0.58268	0.982	P	0.54270	0.747	T	0.81059	-0.1104	10	0.66056	D	0.02	.	18.9683	0.92706	0.0:0.0:1.0:0.0	.	2495	Q9NR09	BIRC6_HUMAN	N	2495	ENSP00000393596:D2495N	ENSP00000393596:D2495N	D	+	1	0	BIRC6	32559966	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.849000	0.86908	2.501000	0.84356	0.460000	0.39030	GAC		0.383	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		5	266	0	0	0	1	0	5	266				
ELTD1	64123	broad.mit.edu	37	1	79387352	79387352	+	Silent	SNP	G	G	A			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr1:79387352G>A	ENST00000370742.3	-	9	1266	c.1203C>T	c.(1201-1203)tgC>tgT	p.C401C		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	401	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GATTACAGCGGCATGAGGTGT	0.413																																						ENST00000370742.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(1201-1203)tgC>tgT		EGF, latrophilin and seven transmembrane domain containing 1							161.0	155.0	157.0					1																	79387352		1993	4170	6163	SO:0001819	synonymous_variant	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79387352G>A	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1203C>T	1.37:g.79387352G>A							p.C401C	NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	9	1266	-			401			GPS.		B1AR71|Q5KU34	Silent	SNP	ENST00000370742.3	37	c.1203C>T	CCDS41352.1																																																																																				0.413	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		5	412	0	0	0	1	0	5	412				
ANKAR	150709	broad.mit.edu	37	2	190592627	190592627	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr2:190592627G>A	ENST00000520309.1	+	13	2769	c.2681G>A	c.(2680-2682)cGt>cAt	p.R894H	ANKAR_ENST00000313581.4_Missense_Mutation_p.R894H|ANKAR_ENST00000281412.6_Missense_Mutation_p.R669H|ANKAR_ENST00000438402.2_Missense_Mutation_p.R894H|ANKAR_ENST00000431575.2_Missense_Mutation_p.R823H	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	894						integral component of membrane (GO:0016021)		p.R823H(1)		breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			GAGGTTGGGCGTGACAATAAG	0.373																																						ENST00000520309.1																			1	Substitution - Missense(1)	p.R823H(1)	large_intestine(1)	breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(2680-2682)cGt>cAt		ankyrin and armadillo repeat containing							104.0	108.0	107.0					2																	190592627		2203	4300	6503	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190592627G>A	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.2681G>A	2.37:g.190592627G>A	ENSP00000427882:p.Arg894His					ANKAR_ENST00000438402.2_Missense_Mutation_p.R894H|ANKAR_ENST00000431575.2_Missense_Mutation_p.R823H|ANKAR_ENST00000313581.4_Missense_Mutation_p.R894H|ANKAR_ENST00000281412.6_Missense_Mutation_p.R669H	p.R894H	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		13	2769	+			894					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.2681G>A	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	G	15.00	2.704006	0.48412	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	5.43	4.56	0.56223	.	0.000000	0.64402	D	0.000003	T	0.44371	0.1290	L	0.57536	1.79	0.40096	D	0.976317	.	.	.	.	.	.	T	0.46062	-0.9218	8	0.62326	D	0.03	-15.5907	13.4495	0.61163	0.0766:0.0:0.9234:0.0	.	.	.	.	H	894;894;894;823;669	ENSP00000427882:R894H;ENSP00000313513:R894H;ENSP00000397243:R894H;ENSP00000393043:R823H;ENSP00000281412:R669H	ENSP00000281412:R669H	R	+	2	0	ANKAR	190300872	1.000000	0.71417	0.174000	0.22961	0.966000	0.64601	3.995000	0.57001	1.531000	0.49152	-0.244000	0.11960	CGT		0.373	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		7	336	0	0	0	1	0	7	336				
RGS3	5998	broad.mit.edu	37	9	116356341	116356341	+	Intron	SNP	C	C	A			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr9:116356341C>A	ENST00000374140.2	+	23	3289				RGS3_ENST00000462143.1_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000462403.1_Missense_Mutation_p.L48I|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000350696.5_Intron	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3						inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCGCTCCCCCTCCTGGTCCC	0.622																																						ENST00000462403.1																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(142-144)Ctc>Atc		regulator of G-protein signaling 3							90.0	103.0	99.0					9																	116356341		2203	4300	6503	SO:0001627	intron_variant	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116356341C>A	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3081-369C>A	9.37:g.116356341C>A						RGS3_ENST00000394646.3_Intron|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000350696.5_Intron	p.L48I	NM_144489.2	NP_652760.2	P49796	RGS3_HUMAN			1	576	+			0					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.142C>A	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	C	8.489	0.861597	0.17178	.	.	ENSG00000138835	ENST00000462403	T	0.61627	0.09	5.42	-1.9	0.07665	.	.	.	.	.	T	0.31918	0.0812	N	0.08118	0	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.20706	-1.0267	9	0.87932	D	0	.	5.4837	0.16737	0.0889:0.2997:0.4534:0.1579	.	48	Q5VZ06	.	I	48	ENSP00000436168:L48I	ENSP00000436168:L48I	L	+	1	0	RGS3	115396162	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.902000	0.04088	-0.299000	0.08909	-0.821000	0.03111	CTC		0.622	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		18	823	1	0	6.49762e-13	1	7.44273e-13	18	823				
KCNK5	8645	broad.mit.edu	37	6	39162508	39162508	+	Silent	SNP	G	G	A	rs200810816		TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr6:39162508G>A	ENST00000359534.3	-	3	665	c.327C>T	c.(325-327)ccC>ccT	p.P109P		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	109					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GGCGACCGGCGGGGGTCTTGG	0.592													g|||	1	0.000199681	0.0	0.0014	5008	,	,		17275	0.0		0.0	False		,,,				2504	0.0					ENST00000359534.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						c.(325-327)ccC>ccT		potassium channel, subfamily K, member 5							55.0	66.0	62.0					6																	39162508		2203	4300	6503	SO:0001819	synonymous_variant	8645				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39162508G>A	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.327C>T	6.37:g.39162508G>A							p.P109P	NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN			3	665	-			109					B2RAQ6|B5TJL2|Q5VV76	Silent	SNP	ENST00000359534.3	37	c.327C>T	CCDS4841.1																																																																																				0.592	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740		8	368	0	0	0	1	0	8	368				
PRDM13	59336	broad.mit.edu	37	6	100057076	100057076	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr6:100057076C>A	ENST00000369215.4	+	3	595	c.290C>A	c.(289-291)gCa>gAa	p.A97E		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	97	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		TTCTACCGAGCATTGCGAGAC	0.507																																						ENST00000369214.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17						c.(319-321)gCa>gAa		PR domain containing 13							56.0	61.0	59.0					6																	100057076		2086	4229	6315	SO:0001583	missense	59336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:100057076C>A	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.290C>A	6.37:g.100057076C>A	ENSP00000358217:p.Ala97Glu					PRDM13_ENST00000369215.4_Missense_Mutation_p.A97E	p.A107E	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0598)	3	581	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	97			SET.		Q5TGC1|Q5TGC2	Missense_Mutation	SNP	ENST00000369215.4	37	c.320C>A	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.467575	0.63625	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	D;D	0.91894	-2.93;-2.93	5.51	5.51	0.81932	SET domain (2);	0.000000	0.39020	N	0.001493	D	0.92808	0.7713	L	0.49126	1.545	0.38884	D	0.956973	D	0.63880	0.993	P	0.56343	0.796	D	0.93400	0.6759	10	0.72032	D	0.01	-4.6232	19.0824	0.93187	0.0:1.0:0.0:0.0	.	97	Q9H4Q3	PRD13_HUMAN	E	97;107	ENSP00000358217:A97E;ENSP00000358216:A107E	ENSP00000358216:A107E	A	+	2	0	PRDM13	100163797	1.000000	0.71417	0.957000	0.39632	0.984000	0.73092	5.518000	0.67068	2.620000	0.88729	0.456000	0.33151	GCA		0.507	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			4	115	1	0	1	1	1	4	115				
FOXP2	93986	broad.mit.edu	37	7	114269973	114269973	+	Silent	SNP	A	A	G	rs576887296|rs398124272	byFrequency	TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr7:114269973A>G	ENST00000393494.2	+	5	789	c.510A>G	c.(508-510)caA>caG	p.Q170Q	FOXP2_ENST00000378237.3_Silent_p.Q170Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393500.3_Silent_p.Q95Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q195Q(1)	kidney(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(283-285)caA>caG		forkhead box P2							37.0	35.0	35.0					7																	114269973		2203	4294	6497	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114269973A>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.510A>G	7.37:g.114269973A>G						FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q	p.Q95Q			O15409	FOXP2_HUMAN			11	1105	+			170			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.285A>G	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		5	194	0	0	0	1	0	5	194				
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463																																						ENST00000428453.1																			4	Substitution - Missense(4)	p.A803V(4)	lung(3)|endometrium(1)	central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															116.0	62.0	82.0					15																	20644850		1509	2699	4208			0							g.chr15:20644850G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644850G>A														0	3097	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.463	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		4	160	0	0	0	1	0	4	160				
HNRNPF	3185	broad.mit.edu	37	10	43883011	43883011	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr10:43883011C>T	ENST00000544000.1	-	4	729	c.322G>A	c.(322-324)Gcc>Acc	p.A108T	HNRNPF_ENST00000357065.4_Missense_Mutation_p.A108T|HNRNPF_ENST00000443950.2_Missense_Mutation_p.A108T|HNRNPF_ENST00000337970.3_Missense_Mutation_p.A108T|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000356053.3_Missense_Mutation_p.A108T	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	108					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						CCATCGTTGGCGCTGTCGGCA	0.522																																						ENST00000443950.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						c.(322-324)Gcc>Acc		heterogeneous nuclear ribonucleoprotein F							160.0	127.0	138.0					10																	43883011		2203	4300	6503	SO:0001583	missense	3185				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:43883011C>T		CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"""RNA binding motif (RRM) containing"""	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.322G>A	10.37:g.43883011C>T	ENSP00000438061:p.Ala108Thr					HNRNPF_ENST00000357065.4_Missense_Mutation_p.A108T|HNRNPF_ENST00000356053.3_Missense_Mutation_p.A108T|HNRNPF_ENST00000337970.3_Missense_Mutation_p.A108T|HNRNPF_ENST00000544000.1_Missense_Mutation_p.A108T	p.A108T	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN			3	808	-			108					B3KM84|Q5T0N2|Q96AU2	Missense_Mutation	SNP	ENST00000544000.1	37	c.322G>A	CCDS7204.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.844871	0.32606	.	.	ENSG00000169813	ENST00000544000;ENST00000443950;ENST00000356053;ENST00000357065;ENST00000337970;ENST00000540544	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	3.9	2.05	0.26809	.	0.162293	0.53938	N	0.000049	T	0.20740	0.0499	L	0.43923	1.385	0.49299	D	0.999776	B	0.25850	0.136	B	0.23018	0.043	T	0.05115	-1.0905	10	0.14656	T	0.56	-8.8589	8.2846	0.31922	0.0:0.798:0.0:0.202	.	108	P52597	HNRPF_HUMAN	T	108;108;108;108;108;31	ENSP00000438061:A108T;ENSP00000400433:A108T;ENSP00000348345:A108T;ENSP00000349573:A108T;ENSP00000338477:A108T	ENSP00000338477:A108T	A	-	1	0	HNRNPF	43203017	1.000000	0.71417	0.959000	0.39883	0.922000	0.55478	6.668000	0.74457	0.619000	0.30197	0.561000	0.74099	GCC		0.522	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2			6	473	0	0	0	1	0	6	473				
DHRS7	51635	broad.mit.edu	37	14	60620745	60620745	+	Missense_Mutation	SNP	G	G	A	rs375832095		TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr14:60620745G>A	ENST00000216500.5	-	4	780	c.325C>T	c.(325-327)Ccc>Tcc	p.P109S	PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000557185.1_Missense_Mutation_p.P109S|DHRS7_ENST00000536410.2_Missense_Mutation_p.P59S|PCNXL4_ENST00000406949.1_Intron|DHRS7_ENST00000553986.1_5'Flank			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	109						membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		AGGTCAAGGGGCAAAACAAGT	0.398																																						ENST00000216500.5																			0				endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						c.(325-327)Ccc>Tcc		dehydrogenase/reductase (SDR family) member 7		G	SER/PRO	0,4406		0,0,2203	102.0	105.0	104.0		325	6.2	1.0	14		104	1,8599	1.2+/-3.3	0,1,4299	no	missense	DHRS7	NM_016029.2	74	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	109/340	60620745	1,13005	2203	4300	6503	SO:0001583	missense	51635						binding|oxidoreductase activity	g.chr14:60620745G>A	AF151844	CCDS9743.1	14q23.1	2011-09-20			ENSG00000100612	ENSG00000100612		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	21524	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 4"", ""short chain dehydrogenase/reductase family 34C, member 1"""	612833				10800688, 10810093, 19027726	Standard	NM_016029		Approved	retDSR4, SDR34C1	uc001xes.3	Q9Y394	OTTHUMG00000140331	ENST00000216500.5:c.325C>T	14.37:g.60620745G>A	ENSP00000216500:p.Pro109Ser					DHRS7_ENST00000536410.2_Missense_Mutation_p.P59S|PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000557185.1_Missense_Mutation_p.P109S	p.P109S			Q9Y394	DHRS7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.121)	4	780	-			109					B2R896|Q9UKU2	Missense_Mutation	SNP	ENST00000216500.5	37	c.325C>T	CCDS9743.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535731	0.85812	0.0	1.16E-4	ENSG00000100612	ENST00000216500;ENST00000360557;ENST00000557185;ENST00000536410	D;D;D	0.87103	-2.21;-2.21;-2.21	6.16	6.16	0.99307	NAD(P)-binding domain (1);	0.154690	0.64402	D	0.000015	D	0.90304	0.6967	L	0.28649	0.875	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74348	0.945;0.983	D	0.88764	0.3259	10	0.40728	T	0.16	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	109;109	F8W9Q4;Q9Y394	.;DHRS7_HUMAN	S	109;109;109;59	ENSP00000216500:P109S;ENSP00000451882:P109S;ENSP00000442993:P59S	ENSP00000216500:P109S	P	-	1	0	DHRS7	59690498	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	9.197000	0.94985	2.937000	0.99478	0.650000	0.86243	CCC		0.398	DHRS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276947.2	NM_016029		5	293	0	0	0	1	0	5	293				
RAMP3	10268	broad.mit.edu	37	7	45222927	45222927	+	Silent	SNP	G	G	A			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr7:45222927G>A	ENST00000242249.4	+	3	401	c.363G>A	c.(361-363)ccG>ccA	p.P121P	RAMP3_ENST00000481345.1_Silent_p.P121P|RAMP3_ENST00000496212.1_Silent_p.P121P	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	121					calcium ion transport (GO:0006816)|cellular response to estradiol stimulus (GO:0071392)|G-protein coupled receptor signaling pathway involved in heart process (GO:0086103)|intracellular protein transport (GO:0006886)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of receptor recycling (GO:0001921)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	TTCTCATCCCGCTGATCGTTA	0.622																																						ENST00000242249.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11						c.(361-363)ccG>ccA		receptor (G protein-coupled) activity modifying protein 3	Pramlintide(DB01278)						129.0	123.0	125.0					7																	45222927		2203	4300	6503	SO:0001819	synonymous_variant	10268				intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity	g.chr7:45222927G>A	AJ001016	CCDS5503.1	7p13-p12	2006-11-21	2006-11-21		ENSG00000122679	ENSG00000122679		"""Receptor (G protein-coupled) activity modifying proteins"""	9845	protein-coding gene	gene with protein product		605155	"""receptor activity modifying protein 3"", ""receptor (calcitonin) activity modifying protein 3"""				Standard	NM_005856		Approved		uc003tnb.3	O60896	OTTHUMG00000023729	ENST00000242249.4:c.363G>A	7.37:g.45222927G>A						RAMP3_ENST00000496212.1_Silent_p.P121P|RAMP3_ENST00000481345.1_Silent_p.P121P	p.P121P	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN			3	401	+			121					Q7Z2Y1	Silent	SNP	ENST00000242249.4	37	c.363G>A	CCDS5503.1																																																																																				0.622	RAMP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251343.1	NM_005856		11	636	0	0	0	1	0	11	636				
ASH2L	9070	broad.mit.edu	37	8	37978568	37978568	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr8:37978568G>A	ENST00000343823.6	+	10	1375	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K	ASH2L_ENST00000521652.1_Missense_Mutation_p.E262K|ASH2L_ENST00000545394.1_Missense_Mutation_p.E217K|RP11-90P5.5_ENST00000476186.2_RNA|ASH2L_ENST00000250635.7_Missense_Mutation_p.E262K|RP11-90P5.4_ENST00000519081.1_RNA|ASH2L_ENST00000428278.2_Missense_Mutation_p.E262K	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	356					cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				CCCTGACCCCGAGAAGCTGGA	0.532											OREG0018719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000343823.6																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19						c.(1066-1068)Gag>Aag		ash2 (absent, small, or homeotic)-like (Drosophila)							119.0	115.0	117.0					8																	37978568		2203	4300	6503	SO:0001583	missense	9070				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding	g.chr8:37978568G>A	AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"""Zinc fingers, PHD-type"""	744	protein-coding gene	gene with protein product		604782	"""ash2 (absent, small, or homeotic, Drosophila, homolog)-like"""	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.1066G>A	8.37:g.37978568G>A	ENSP00000340896:p.Glu356Lys		OREG0018719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	874	ASH2L_ENST00000521652.1_Missense_Mutation_p.E262K|ASH2L_ENST00000428278.2_Missense_Mutation_p.E262K|ASH2L_ENST00000545394.1_Missense_Mutation_p.E217K|ASH2L_ENST00000250635.7_Missense_Mutation_p.E262K	p.E356K	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN			10	1375	+	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)	356					A8K7C3|D3DSW9|O60659|O60660|Q96B62	Missense_Mutation	SNP	ENST00000343823.6	37	c.1066G>A	CCDS6101.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580018	0.86645	.	.	ENSG00000129691	ENST00000343823;ENST00000250635;ENST00000545394;ENST00000428278;ENST00000521652	T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79	5.62	5.62	0.85841	Concanavalin A-like lectin/glucanase (1);	0.043549	0.85682	D	0.000000	T	0.68760	0.3036	L	0.42245	1.32	0.80722	D	1	P;P	0.50943	0.737;0.94	B;B	0.38264	0.124;0.269	T	0.74166	-0.3753	10	0.62326	D	0.03	.	19.6764	0.95936	0.0:0.0:1.0:0.0	.	262;356	Q9UBL3-2;Q9UBL3	.;ASH2L_HUMAN	K	356;262;217;262;262	ENSP00000340896:E356K;ENSP00000250635:E262K;ENSP00000443606:E217K;ENSP00000395310:E262K;ENSP00000430259:E262K	ENSP00000250635:E262K	E	+	1	0	ASH2L	38097725	1.000000	0.71417	0.989000	0.46669	0.980000	0.70556	9.799000	0.99117	2.660000	0.90430	0.655000	0.94253	GAG		0.532	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376749.4	NM_004674		6	428	0	0	0	1	0	6	428				
CELSR1	9620	broad.mit.edu	37	22	46807563	46807563	+	Missense_Mutation	SNP	G	G	A	rs200439861		TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr22:46807563G>A	ENST00000262738.3	-	6	4704	c.4705C>T	c.(4705-4707)Cgc>Tgc	p.R1569C		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1569	Laminin G-like 1. {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)		TTTCCAAAGCGCACAGCCATG	0.617																																						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.(4705-4707)Cgc>Tgc		cadherin, EGF LAG seven-pass G-type receptor 1		G	CYS/ARG	0,4406		0,0,2203	111.0	94.0	100.0		4705	4.4	1.0	22		100	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CELSR1	NM_014246.1	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1569/3015	46807563	1,13005	2203	4300	6503	SO:0001583	missense	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.chr22:46807563G>A	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.4705C>T	22.37:g.46807563G>A	ENSP00000262738:p.Arg1569Cys						p.R1569C	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	6	4704	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1569			Laminin G-like 1.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.4705C>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996531	0.74818	0.0	1.16E-4	ENSG00000075275	ENST00000262738	T	0.78816	-1.21	4.43	4.43	0.53597	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.079121	0.51477	U	0.000082	D	0.85301	0.5665	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.87206	0.2244	10	0.72032	D	0.01	.	17.0436	0.86496	0.0:0.0:1.0:0.0	.	1569	Q9NYQ6	CELR1_HUMAN	C	1569	ENSP00000262738:R1569C	ENSP00000262738:R1569C	R	-	1	0	CELSR1	45186227	1.000000	0.71417	1.000000	0.80357	0.525000	0.34531	5.020000	0.64066	2.178000	0.69098	0.655000	0.94253	CGC		0.617	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		5	309	0	0	0	1	0	5	309				
PDCL3	79031	broad.mit.edu	37	2	101188240	101188240	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr2:101188240G>A	ENST00000264254.6	+	5	935	c.557G>A	c.(556-558)gGc>gAc	p.G186D		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	186	Thioredoxin fold. {ECO:0000250}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|protein folding (GO:0006457)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|viral process (GO:0016032)	cytoplasm (GO:0005737)	protein binding involved in protein folding (GO:0044183)			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						GTGTTTGGCGGCATGAACCTG	0.498																																						ENST00000264254.6																			0				endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						c.(556-558)gGc>gAc		phosducin-like 3							112.0	123.0	119.0					2																	101188240		2203	4300	6503	SO:0001583	missense	79031				apoptosis|interspecies interaction between organisms	cytoplasm	protein binding	g.chr2:101188240G>A	AF267853	CCDS33261.1	2q12	2008-02-05			ENSG00000115539	ENSG00000115539			28860	protein-coding gene	gene with protein product		611678					Standard	NM_024065		Approved	VIAF1	uc002tao.2	Q9H2J4	OTTHUMG00000153141	ENST00000264254.6:c.557G>A	2.37:g.101188240G>A	ENSP00000264254:p.Gly186Asp						p.G186D	NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN			5	935	+			186					B2RA00|Q53S68	Missense_Mutation	SNP	ENST00000264254.6	37	c.557G>A	CCDS33261.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	32|32	5.147325|5.147325	0.94603|0.94603	.|.	.|.	ENSG00000115539|ENSG00000115539	ENST00000450127|ENST00000264254	.|T	.|0.19250	.|2.16	4.89|4.89	4.89|4.89	0.63831|0.63831	.|Thioredoxin-like fold (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.52693|0.52693	0.1750|0.1750	M|M	0.87038|0.87038	2.855|2.855	0.80722|0.80722	D|D	1|1	.|D	.|0.52996	.|0.957	.|D	.|0.66196	.|0.942	T|T	0.62058|0.62058	-0.6934|-0.6934	5|10	.|0.87932	.|D	.|0	-20.1092|-20.1092	18.4609|18.4609	0.90737|0.90737	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|186	.|Q9H2J4	.|PDCL3_HUMAN	T|D	134|186	.|ENSP00000264254:G186D	.|ENSP00000264254:G186D	A|G	+|+	1|2	0|0	PDCL3|PDCL3	100554672|100554672	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.835000|9.835000	0.99442|0.99442	2.436000|2.436000	0.82500|0.82500	0.650000|0.650000	0.86243|0.86243	GCA|GGC		0.498	PDCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329734.1	NM_024065		6	630	0	0	0	1	0	6	630				
PTPRF	5792	broad.mit.edu	37	1	44071946	44071948	+	In_Frame_Del	DEL	GCG	GCG	-	rs549143666|rs377569778	byFrequency	TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr1:44071946_44071948delGCG	ENST00000359947.4	+	20	3859_3861	c.3519_3521delGCG	c.(3517-3522)cagcgg>cag	p.R1178del	PTPRF_ENST00000438120.1_In_Frame_Del_p.R1169del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_In_Frame_Del_p.R526del|PTPRF_ENST00000372413.3_In_Frame_Del_p.R1169del|PTPRF_ENST00000372414.3_In_Frame_Del_p.R1178del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1178					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGAGGAGCAGCGGCGGCGGCGG	0.631																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3517-3522)cag>ca		protein tyrosine phosphatase, receptor type, F																																				SO:0001651	inframe_deletion	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44071946_44071948delGCG	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3519_3521delGCG	1.37:g.44071955_44071957delGCG	ENSP00000353030:p.Arg1178del					PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del	p.QR1173del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			20	3859_3861	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1173					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	In_Frame_Del	DEL	ENST00000359947.4	37	c.3519_3521delGCG	CCDS489.2																																																																																				0.631	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			10	564						10	564	---	---	---	---
ZCCHC11	23318	broad.mit.edu	37	1	52991403	52991403	+	Frame_Shift_Del	DEL	T	T	-	rs180741095		TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr1:52991403delT	ENST00000371544.3	-	2	812	c.550delA	c.(550-552)attfs	p.I184fs	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Frame_Shift_Del_p.I184fs|ZCCHC11_ENST00000355809.4_Frame_Shift_Del_p.I184fs	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	184					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GAGCTTGGAATTTTTTTTCCA	0.408																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(550-552)ttfs		zinc finger, CCHC domain containing 11							164.0	171.0	169.0					1																	52991403		2203	4300	6503	SO:0001589	frameshift_variant	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52991403delT	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.550delA	1.37:g.52991403delT	ENSP00000360599:p.Ile184fs					ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Frame_Shift_Del_p.I184fs|ZCCHC11_ENST00000355809.4_Frame_Shift_Del_p.I184fs	p.I184fs	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			2	812	-			184					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Frame_Shift_Del	DEL	ENST00000371544.3	37	c.550delA	CCDS30716.1																																																																																				0.408	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		7	1193						7	1193	---	---	---	---
NDC1	55706	broad.mit.edu	37	1	54298190	54298192	+	In_Frame_Del	DEL	TTA	TTA	-	rs577226450		TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr1:54298190_54298192delTTA	ENST00000371429.3	-	3	849_851	c.251_253delTAA	c.(250-255)ataagt>agt	p.I84del	NDC1_ENST00000480952.1_5'UTR|NDC1_ENST00000540001.1_In_Frame_Del_p.I84del|NDC1_ENST00000537333.1_5'UTR|NDC1_ENST00000234725.8_5'UTR	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	84					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)										TTGAAAATACTTATTATTATTAT	0.305																																						ENST00000371429.3																			0											c.(250-255)agt>a		NDC1 transmembrane nucleoporin			,	223,4033		40,143,1945					,	4.0	1.0			44	436,7808		95,246,3781	no	coding,coding	TMEM48	NM_018087.4,NM_001168551.1	,	135,389,5726	A1A1,A1R,RR		5.2887,5.2397,5.272	,	,		659,11841				SO:0001651	inframe_deletion	55706							g.chr1:54298190_54298192delTTA	AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"""nuclear division cycle 1 homolog (S. cerevisiae)"""	610115	"""transmembrane protein 48"""	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.251_253delTAA	1.37:g.54298199_54298201delTTA	ENSP00000360483:p.Ile84del					NDC1_ENST00000480952.1_5'UTR|NDC1_ENST00000234725.8_5'UTR|NDC1_ENST00000540001.1_In_Frame_Del_p.IS84del|NDC1_ENST00000537333.1_5'UTR	p.IS84del	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3					3	849_851	-								B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	In_Frame_Del	DEL	ENST00000371429.3	37	c.251_253delTAA	CCDS583.1																																																																																				0.305	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022101.1	NM_018087		8	205						8	205	---	---	---	---
KIAA1324	57535	broad.mit.edu	37	1	109727724	109727725	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr1:109727724_109727725delAC	ENST00000369939.3	+	8	1193_1194	c.1010_1011delAC	c.(1009-1011)tacfs	p.Y337fs	KIAA1324_ENST00000529753.1_Intron	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	337					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)	p.T340fs*21(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GATTATTTCTACACACACACGG	0.49																																						ENST00000369939.3																			1	Deletion - Frameshift(1)	p.T340fs*21(1)	large_intestine(1)	NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1009-1011)tfs		KIAA1324																																				SO:0001589	frameshift_variant	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109727724_109727725delAC	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.1010_1011delAC	1.37:g.109727732_109727733delAC	ENSP00000358955:p.Tyr337fs					KIAA1324_ENST00000529753.1_Intron	p.Y337fs	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	8	1193_1194	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	337					Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Frame_Shift_Del	DEL	ENST00000369939.3	37	c.1010_1011delAC	CCDS794.1																																																																																				0.490	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		7	756						7	756	---	---	---	---
SLC25A44	9673	broad.mit.edu	37	1	156182850	156182850	+	IGR	DEL	A	A	-			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr1:156182850delA	ENST00000359511.4	+	0	3482				PMF1-BGLAP_ENST00000320139.5_Frame_Shift_Del_p.E15fs|PMF1_ENST00000567140.1_Frame_Shift_Del_p.E15fs|PMF1_ENST00000368273.4_Frame_Shift_Del_p.E15fs|PMF1_ENST00000368279.3_Frame_Shift_Del_p.E15fs|PMF1-BGLAP_ENST00000368276.4_Frame_Shift_Del_p.E15fs|PMF1_ENST00000368277.3_Frame_Shift_Del_p.E15fs|PMF1_ENST00000565805.1_Frame_Shift_Del_p.E15fs|PMF1-BGLAP_ENST00000490491.1_Frame_Shift_Del_p.E15fs	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					GGCTGTGAGGAAAAAAGGCAT	0.572																																						ENST00000368277.3																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.(43-45)gafs		polyamine-modulated factor 1							99.0	90.0	93.0					1																	156182850		2203	4300	6503	SO:0001628	intergenic_variant	11243							g.chr1:156182850delA	AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"""Solute carriers"""	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816		1.37:g.156182850delA						PMF1-BGLAP_ENST00000368276.4_Frame_Shift_Del_p.E15fs|PMF1_ENST00000567140.1_Frame_Shift_Del_p.E15fs|PMF1-BGLAP_ENST00000490491.1_Frame_Shift_Del_p.E15fs|PMF1_ENST00000466489.1_3'UTR|PMF1_ENST00000368279.3_Frame_Shift_Del_p.E15fs|PMF1_ENST00000368273.4_Frame_Shift_Del_p.E15fs|PMF1_ENST00000565805.1_Frame_Shift_Del_p.E15fs|PMF1-BGLAP_ENST00000320139.5_Frame_Shift_Del_p.E15fs	p.E15fs	NM_007221.3	NP_009152.2					1	53	+	Hepatocellular(266;0.158)							O75034	Frame_Shift_Del	DEL	ENST00000359511.4	37	c.44delA	CCDS1133.1																																																																																				0.572	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040856.1	NM_014655		7	344						7	344	---	---	---	---
ZC3H11A	9877	broad.mit.edu	37	1	203819140	203819140	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr1:203819140delA	ENST00000545588.1	+	14	5752	c.1925delA	c.(1924-1926)gaafs	p.E642fs	ZC3H11A_ENST00000332127.4_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000367214.1_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000367210.1_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Del_p.E642fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	642					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGACCTTGGAAAAAAGGGGT	0.418																																						ENST00000545588.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1924-1926)gafs		zinc finger CCCH-type containing 11A							55.0	54.0	54.0					1																	203819140		2203	4300	6503	SO:0001589	frameshift_variant	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203819140delA		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.1925delA	1.37:g.203819140delA	ENSP00000438527:p.Glu642fs					ZC3H11A_ENST00000367210.1_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000367214.1_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Del_p.E642fs	p.E642fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		14	5752	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		642					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Frame_Shift_Del	DEL	ENST00000545588.1	37	c.1925delA	CCDS30978.1																																																																																				0.418	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		7	409						7	409	---	---	---	---
RQCD1	9125	broad.mit.edu	37	2	219447753	219447754	+	In_Frame_Ins	INS	-	-	ATT			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr2:219447753_219447754insATT	ENST00000273064.6	+	3	639_640	c.264_265insATT	c.(265-267)aga>ATTaga	p.88_89insI	RQCD1_ENST00000295701.5_In_Frame_Ins_p.88_89insI|RQCD1_ENST00000509807.2_In_Frame_Ins_p.88_89insI|RQCD1_ENST00000542068.1_In_Frame_Ins_p.88_89insI	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	88					cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.N88K(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCAGTCTAACAGAGTTTGCAA	0.391																																						ENST00000273064.6																			1	Substitution - Missense(1)	p.N88K(1)	ovary(1)	endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15						c.(262-267)aagagt>aaATTgagt		RCD1 required for cell differentiation1 homolog (S. pombe)																																				SO:0001652	inframe_insertion	9125				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr2:219447753_219447754insATT	D87957	CCDS33379.1, CCDS63123.1	2q35	2010-04-23	2001-11-28		ENSG00000144580	ENSG00000144580			10445	protein-coding gene	gene with protein product	"""cancer/testis antigen 129"""	612054	"""rcd1 (required for cell differentiation, S.pombe) homolog 1"""			9447985	Standard	NM_001271634		Approved	RCD1, RCD1+, CNOT9, CT129	uc010zki.3	Q92600	OTTHUMG00000154750	Exception_encountered	2.37:g.219447753_219447754insATT	ENSP00000273064:p.Asn88_Arg89insIle					RQCD1_ENST00000509807.2_In_Frame_Ins_p.88_89KS>KLS|RQCD1_ENST00000295701.5_In_Frame_Ins_p.88_89KS>KLS|RQCD1_ENST00000542068.1_In_Frame_Ins_p.88_89KS>KLS	p.88_89KS>KLS	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	639_640	+		Renal(207;0.0915)	88					B2RPI0|B5MDQ4|B7Z1E5|Q96IX4	In_Frame_Ins	INS	ENST00000273064.6	37	c.264_265insATT	CCDS33379.1																																																																																				0.391	RQCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336920.1	NM_005444		22	561						22	561	---	---	---	---
NGEF	25791	broad.mit.edu	37	2	233785144	233785146	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr2:233785144_233785146delCTC	ENST00000264051.3	-	5	954_956	c.676_678delGAG	c.(676-678)gagdel	p.E226del	NGEF_ENST00000409079.1_In_Frame_Del_p.E134del|NGEF_ENST00000373552.4_In_Frame_Del_p.E134del	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	226	Poly-Glu.|Regulatory region; modulates activity toward RHOA, RAC1 and CDC42. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GGCTGGCCGGctcctcctcctcc	0.586																																						ENST00000264051.3																			0				central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(676-678)del		neuronal guanine nucleotide exchange factor																																				SO:0001651	inframe_deletion	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233785144_233785146delCTC	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.676_678delGAG	2.37:g.233785153_233785155delCTC	ENSP00000264051:p.Glu226del					NGEF_ENST00000373552.4_In_Frame_Del_p.E134del|NGEF_ENST00000409079.1_In_Frame_Del_p.E134del	p.E226del	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	5	954_956	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	226			Poly-Glu.|Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	In_Frame_Del	DEL	ENST00000264051.3	37	c.676_678delGAG	CCDS2500.1																																																																																				0.586	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		7	301						7	301	---	---	---	---
WHSC1	7468	broad.mit.edu	37	4	1980558	1980559	+	Frame_Shift_Ins	INS	-	-	C	rs199956960		TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr4:1980558_1980559insC	ENST00000382895.3	+	24	4451_4452	c.4020_4021insC	c.(4021-4023)cccfs	p.P1341fs	WHSC1_ENST00000508803.1_Frame_Shift_Ins_p.P1341fs|WHSC1_ENST00000382892.2_Frame_Shift_Ins_p.P1341fs|WHSC1_ENST00000382891.5_Frame_Shift_Ins_p.P1341fs|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Frame_Shift_Ins_p.P689fs	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1341					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AGACTGAGAAGCCCCCCCCAGA	0.678			T	IGH@	MM																																	ENST00000382895.3				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(4018-4023)aaccccfs		Wolf-Hirschhorn syndrome candidate 1			,,,	38,4226		0,38,2094					,,,	-5.1	0.6		dbSNP_126	23	49,8203		0,49,4077	no	frameshift,frameshift,frameshift,frameshift	WHSC1	NM_133335.3,NM_133331.2,NM_133330.2,NM_001042424.2	,,,	0,87,6171	A1A1,A1R,RR		0.5938,0.8912,0.6951	,,,	,,,		87,12429				SO:0001589	frameshift_variant	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1980558_1980559insC	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.4028dupC	4.37:g.1980566_1980566dupC	ENSP00000372351:p.Pro1341fs					WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Frame_Shift_Ins_p.NP688fs|WHSC1_ENST00000382891.5_Frame_Shift_Ins_p.NP1340fs|WHSC1_ENST00000382892.2_Frame_Shift_Ins_p.NP1340fs|WHSC1_ENST00000508803.1_Frame_Shift_Ins_p.NP1340fs	p.NP1340fs	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	24	4451_4452	+		all_epithelial(65;1.34e-05)	1340					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Frame_Shift_Ins	INS	ENST00000382895.3	37	c.4020_4021insC	CCDS33940.1																																																																																				0.678	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		7	165						7	165	---	---	---	---
GABRG1	2565	broad.mit.edu	37	4	46060358	46060358	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr4:46060358delA	ENST00000295452.4	-	7	959	c.792delT	c.(790-792)tttfs	p.F264fs		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	264					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.F264fs*3(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGCTCAGGTCAAAAAAAATTG	0.294																																						ENST00000295452.4																			1	Deletion - Frameshift(1)	p.F264fs*3(1)	large_intestine(1)	breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(790-792)ttfs		gamma-aminobutyric acid (GABA) A receptor, gamma 1							94.0	97.0	96.0					4																	46060358		2203	4300	6503	SO:0001589	frameshift_variant	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46060358delA	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.792delT	4.37:g.46060358delA	ENSP00000295452:p.Phe264fs						p.F264fs	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	7	959	-			264					Q5H9T8	Frame_Shift_Del	DEL	ENST00000295452.4	37	c.792delT	CCDS3470.1																																																																																				0.294	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		8	352						8	352	---	---	---	---
PKD2	5311	broad.mit.edu	37	4	88986559	88986559	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr4:88986559delA	ENST00000508588.1	+	6	801	c.406delA	c.(406-408)aaafs	p.K137fs	PKD2_ENST00000502363.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000237596.2_Frame_Shift_Del_p.K719fs			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	389					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ACTAAAACTGAAAAAAAATAC	0.383																																						ENST00000237596.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36						c.(2152-2154)aafs		polycystic kidney disease 2 (autosomal dominant)							102.0	109.0	106.0					4																	88986559		2203	4300	6503	SO:0001589	frameshift_variant	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88986559delA	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.406delA	4.37:g.88986559delA	ENSP00000427131:p.Lys137fs					PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000508588.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000502363.1_Frame_Shift_Del_p.K137fs	p.K719fs	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	11	2218	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	719			EF-hand domain.		Q8TB08|Q9P0T6|Q9Y3X8	Frame_Shift_Del	DEL	ENST00000508588.1	37	c.2152delA																																																																																					0.383	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	NM_000297		8	592						8	592	---	---	---	---
LRBA	987	broad.mit.edu	37	4	151223826	151223827	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr4:151223826_151223827insA	ENST00000357115.3	-	54	8243_8244	c.8000_8001insT	c.(7999-8001)ttgfs	p.L2667fs	LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Frame_Shift_Ins_p.L2656fs|LRBA_ENST00000535741.1_Frame_Shift_Ins_p.L2656fs	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2667						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AATACCACAGCAAAAGAGTTGC	0.416																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(7966-7968)tctfs		LPS-responsive vesicle trafficking, beach and anchor containing																																				SO:0001589	frameshift_variant	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151223826_151223827insA	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.8001dupT	4.37:g.151223830_151223830dupA	ENSP00000349629:p.Leu2667fs					LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Frame_Shift_Ins_p.S2656fs|LRBA_ENST00000357115.3_Frame_Shift_Ins_p.S2667fs	p.S2656fs			P50851	LRBA_HUMAN			53	8440_8441	-	all_hematologic(180;0.151)		2667					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Frame_Shift_Ins	INS	ENST00000357115.3	37	c.7967_7968insT	CCDS3773.1																																																																																				0.416	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			10	542						10	542	---	---	---	---
AFF4	27125	broad.mit.edu	37	5	132232616	132232616	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr5:132232616delT	ENST00000265343.5	-	11	2085	c.1706delA	c.(1705-1707)aagfs	p.K569fs	AFF4_ENST00000378595.3_Frame_Shift_Del_p.K569fs	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	569					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTCTCAGCCTTTTTGGGTTG	0.507																																					Ovarian(126;889 1733 2942 10745 11605)	ENST00000265343.5																		SEPT8/AFF4(2)	0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43						c.(1705-1707)agfs		AF4/FMR2 family, member 4							101.0	103.0	102.0					5																	132232616		2203	4300	6503	SO:0001589	frameshift_variant	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132232616delT	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.1706delA	5.37:g.132232616delT	ENSP00000265343:p.Lys569fs					AFF4_ENST00000378595.3_Frame_Shift_Del_p.K569fs	p.K569fs	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		11	2085	-		all_cancers(142;0.145)|Breast(839;0.198)	569					B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Frame_Shift_Del	DEL	ENST00000265343.5	37	c.1706delA	CCDS4164.1																																																																																				0.507	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		7	560						7	560	---	---	---	---
BTN2A3P	54718	broad.mit.edu	37	6	26422388	26422390	+	RNA	DEL	CCT	CCT	-	rs113134648	byFrequency	TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr6:26422388_26422390delCCT	ENST00000466808.2	+	0	42_44							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											GGCCAGCCTCCCTCCTCCTCCTC	0.586																																						ENST00000466808.2																			0																	383,304,2,3575		10,8,0,355,12,0,272,0,2,1473						0.4	0.0		dbSNP_134	150	684,576,1,6991		22,7,0,633,28,0,513,0,1,2922	no	intergenic				32,15,0,988,40,0,785,0,3,4395	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		15.2811,16.1585,15.5801				1067,880,3,10566						0							g.chr6:26422388_26422390delCCT	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422397_26422399delCCT														0	42_44	+								A6NEF4	RNA	DEL	ENST00000466808.2	37																																																																																						0.586	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		13	442						13	442	---	---	---	---
AK9	221264	broad.mit.edu	37	6	109980432	109980434	+	Splice_Site	DEL	TCT	TCT	-			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr6:109980432_109980434delTCT	ENST00000424296.2	-	7	703_705	c.627_629delAGA	c.(625-630)gaagag>gag	p.209_210EE>E	AK9_ENST00000341338.6_5'UTR|AK9_ENST00000285397.5_Splice_Site_p.209_210EE>E|AK9_ENST00000368948.2_Splice_Site_p.209_210EE>E	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	209	Adenylate kinase 1.|Glu-rich.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										AGATATTACCtcttcttcttctt	0.35																																						ENST00000424296.2																			0											c.e7+1		adenylate kinase 9			,	17,4247		0,17,2115					,	4.4	1.0			142	11,8243		0,11,4116	no	coding-near-splice,coding-near-splice	AKD1	NM_145025.4,NM_001145128.2	,	0,28,6231	A1A1,A1R,RR		0.1333,0.3987,0.2237	,	,		28,12490				SO:0001630	splice_region_variant	221264							g.chr6:109980432_109980434delTCT	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.630+1AGA>-	6.37:g.109980441_109980443delTCT						AK9_ENST00000341338.6_5'UTR|AK9_ENST00000285397.5_Splice_Site_p.EE209_splice|AK9_ENST00000368948.2_Splice_Site_p.EE209_splice	p.EE209_splice	NM_001145128.2	NP_001138600.2					7	703_705	-								A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Splice_Site	DEL	ENST00000424296.2	37	c.630_splice	CCDS55048.1																																																																																				0.350	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128	In_Frame_Del	8	518						8	518	---	---	---	---
IFNGR1	3459	broad.mit.edu	37	6	137519505	137519506	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr6:137519505_137519506delCT	ENST00000367739.4	-	7	1253_1254	c.1132_1133delAG	c.(1132-1134)agtfs	p.S380fs	IFNGR1_ENST00000543628.1_Frame_Shift_Del_p.S352fs	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	380					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	AGGTGAAGAACTCTCTCTCTCT	0.431																																						ENST00000367739.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1132-1134)tfs		interferon gamma receptor 1	Interferon gamma-1b(DB00033)																																			SO:0001589	frameshift_variant	3459				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity	g.chr6:137519505_137519506delCT		CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"""Interferons"", ""CD molecules"""	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.1132_1133delAG	6.37:g.137519515_137519516delCT	ENSP00000356713:p.Ser380fs					IFNGR1_ENST00000543628.1_Frame_Shift_Del_p.S352fs	p.S380fs	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN		GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	7	1253_1254	-	Colorectal(23;0.24)		380					B4DFT7|E1P587|Q53Y96	Frame_Shift_Del	DEL	ENST00000367739.4	37	c.1132_1133delAG	CCDS5185.1																																																																																				0.431	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1			8	517						8	517	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146755219	146755221	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr6:146755219_146755221delGAG	ENST00000282753.1	+	8	3107_3109	c.2872_2874delGAG	c.(2872-2874)gagdel	p.E961del	GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000361719.2_In_Frame_Del_p.E961del|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	961					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TTACAACGTAGAGGAGGAGGAGG	0.586																																						ENST00000361719.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(2872-2874)del		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)		,	5,4255		2,1,2127					,	0.6	0.8			106	4,8246		2,0,4123	no	utr-3,coding	GRM1	NM_001114329.1,NM_000838.3	,	4,1,6250	A1A1,A1R,RR		0.0485,0.1174,0.0719	,	,		9,12501				SO:0001651	inframe_deletion	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755219_146755221delGAG	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2872_2874delGAG	6.37:g.146755228_146755230delGAG	ENSP00000282753:p.Glu961del					GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.E961del|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR	p.E961del	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3342_3344	+		Ovarian(120;0.0387)	961					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	In_Frame_Del	DEL	ENST00000282753.1	37	c.2872_2874delGAG	CCDS5209.1																																																																																				0.586	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		7	826						7	826	---	---	---	---
SCAF8	22828	broad.mit.edu	37	6	155153620	155153620	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr6:155153620delT	ENST00000367178.3	+	20	3483	c.2907delT	c.(2905-2907)cctfs	p.P969fs	TIAM2_ENST00000461783.3_5'Flank|SCAF8_ENST00000367186.4_Frame_Shift_Del_p.P1035fs|SCAF8_ENST00000417268.1_Frame_Shift_Del_p.P969fs	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	969	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CCCGTGGACCTTTTCCTCCAG	0.473																																						ENST00000367178.3																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						c.(2905-2907)ccfs		SR-related CTD-associated factor 8							106.0	116.0	113.0					6																	155153620		2203	4300	6503	SO:0001589	frameshift_variant	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155153620delT	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.2907delT	6.37:g.155153620delT	ENSP00000356146:p.Pro969fs					SCAF8_ENST00000417268.1_Frame_Shift_Del_p.P969fs|SCAF8_ENST00000367186.4_Frame_Shift_Del_p.P1035fs	p.P969fs	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN			20	3483	+			969			Pro-rich.		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Frame_Shift_Del	DEL	ENST00000367178.3	37	c.2907delT	CCDS5247.1																																																																																				0.473	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		9	1016						9	1016	---	---	---	---
MLLT4	4301	broad.mit.edu	37	6	168317900	168317900	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr6:168317900delT	ENST00000447894.2	+	19	2676	c.2676delT	c.(2674-2676)cctfs	p.P892fs	MLLT4_ENST00000400822.3_Frame_Shift_Del_p.P891fs|MLLT4_ENST00000392112.1_Frame_Shift_Del_p.P876fs|MLLT4_ENST00000351017.4_Frame_Shift_Del_p.P899fs|MLLT4_ENST00000366806.2_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000344191.4_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000392108.3_Frame_Shift_Del_p.P892fs			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	892	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTGATGAGCCTTTTATCCCAA	0.398			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2674-2676)ccfs		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							177.0	166.0	170.0					6																	168317900		2203	4300	6503	SO:0001589	frameshift_variant	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168317900delT	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.2676delT	6.37:g.168317900delT	ENSP00000404595:p.Pro892fs					MLLT4_ENST00000351017.4_Frame_Shift_Del_p.P899fs|MLLT4_ENST00000447894.2_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000344191.4_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000392108.3_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000392112.1_Frame_Shift_Del_p.P876fs|MLLT4_ENST00000400822.3_Frame_Shift_Del_p.P891fs	p.P892fs			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	19	2818	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	892			Dilute.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Frame_Shift_Del	DEL	ENST00000447894.2	37	c.2676delT																																																																																					0.398	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		7	791						7	791	---	---	---	---
MPP6	51678	broad.mit.edu	37	7	24705665	24705666	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr7:24705665_24705666insA	ENST00000222644.5	+	8	1159_1160	c.909_910insA	c.(910-912)aaafs	p.K304fs	MPP6_ENST00000409761.1_Frame_Shift_Ins_p.K192fs|MPP6_ENST00000396475.2_Frame_Shift_Ins_p.K304fs			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						CTATAAGTAGCAAAAAAAAGAA	0.302																																						ENST00000396475.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						c.(907-912)agaaaafs		membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)																																				SO:0001589	frameshift_variant	51678				protein complex assembly		protein binding	g.chr7:24705665_24705666insA	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.917dupA	7.37:g.24705673_24705673dupA	ENSP00000222644:p.Lys304fs					MPP6_ENST00000222644.4_Frame_Shift_Ins_p.RK303fs|MPP6_ENST00000409761.1_Frame_Shift_Ins_p.RK191fs	p.RK303fs	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN			9	1208_1209	+			303					B2RAF0	Frame_Shift_Ins	INS	ENST00000222644.5	37	c.909_910insA	CCDS5388.1																																																																																				0.302	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4			7	840						7	840	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32635706	32635706	+	5'Flank	DEL	T	T	-			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr9:32635706delT	ENST00000242310.4	-	0	0				RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like						DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCCGCAAAACttttttttttt	0.542																																						ENST00000430787.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr9:32635706delT	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747		9.37:g.32635706delT	Exception_encountered													0	1602	+								Q0VG57	RNA	DEL	ENST00000242310.4	37		CCDS35003.1																																																																																				0.542	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			2	4						2	4	---	---	---	---
TPRN	286262	broad.mit.edu	37	9	140087025	140087027	+	In_Frame_Del	DEL	TCC	TCC	-	rs376810326		TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr9:140087025_140087027delTCC	ENST00000409012.4	-	2	1928_1930	c.1842_1844delGGA	c.(1840-1845)gaggaa>gaa	p.614_615EE>E	TPRN_ENST00000321773.2_In_Frame_Del_p.553_554EE>E|TPRN_ENST00000541945.1_5'Flank	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	614	Glu-rich.				sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)		p.E315delE(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						ctcttcctcttcctcctcctcct	0.596																																						ENST00000409012.4																			1	Deletion - In frame(1)	p.E315delE(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						c.(1840-1845)gaa>ga		taperin																																				SO:0001651	inframe_deletion	286262				sensory perception of sound	stereocilium		g.chr9:140087025_140087027delTCC	AK074735	CCDS56594.1	9q34.3	2011-01-06	2010-03-24	2010-03-24	ENSG00000176058	ENSG00000176058			26894	protein-coding gene	gene with protein product		613354	"""chromosome 9 open reading frame 75"", ""deafness, autosomal recessive 79"""	C9orf75, DFNB79		20170898, 20170899	Standard	NM_001128228		Approved	FLJ90254	uc004clu.3	Q4KMQ1	OTTHUMG00000020984	ENST00000409012.4:c.1842_1844delGGA	9.37:g.140087034_140087036delTCC	ENSP00000387100:p.Glu621del					TPRN_ENST00000321773.2_In_Frame_Del_p.EE559del	p.EE620del	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN			2	1928_1930	-			620			Glu-rich.		B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	In_Frame_Del	DEL	ENST00000409012.4	37	c.1842_1844delGGA	CCDS56594.1																																																																																				0.596	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055323.3	NM_173691		8	90						8	90	---	---	---	---
SYT15	83849	broad.mit.edu	37	10	46969401	46969403	+	In_Frame_Del	DEL	CAG	CAG	-	rs368995487		TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr10:46969401_46969403delCAG	ENST00000374321.4	-	2	124_126	c.58_60delCTG	c.(58-60)ctgdel	p.L21del	SYT15_ENST00000374325.3_In_Frame_Del_p.L21del|SYT15_ENST00000374323.4_Intron|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCCCGATCAACAGCAGCAGCAGC	0.631																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374325.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(58-60)del		synaptotagmin XV																																				SO:0001651	inframe_deletion	83849					integral to membrane|plasma membrane		g.chr10:46969401_46969403delCAG	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.58_60delCTG	10.37:g.46969410_46969412delCAG	ENSP00000363441:p.Leu21del					SYT15_ENST00000374321.4_In_Frame_Del_p.L21del|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374323.3_Intron	p.L21del	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN			2	210_212	-			21					A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	In_Frame_Del	DEL	ENST00000374321.4	37	c.58_60delCTG	CCDS44376.1																																																																																				0.631	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		9	240						9	240	---	---	---	---
DDX50	79009	broad.mit.edu	37	10	70666692	70666693	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr10:70666692_70666693insA	ENST00000373585.3	+	2	420_421	c.313_314insA	c.(313-315)gaafs	p.E105fs		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	105						membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AGATGAATATGAAAAAAAATCA	0.307																																						ENST00000373585.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(313-315)aaafs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 50																																				SO:0001589	frameshift_variant	79009					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr10:70666692_70666693insA	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.321dupA	10.37:g.70666700_70666700dupA	ENSP00000362687:p.Glu105fs						p.K105fs	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN			2	420_421	+			105					Q5VX37|Q8WV76|Q9BWI8	Frame_Shift_Ins	INS	ENST00000373585.3	37	c.313_314insA	CCDS7283.1																																																																																				0.307	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		7	767						7	767	---	---	---	---
TMEM254	80195	broad.mit.edu	37	10	81841638	81841639	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr10:81841638_81841639insG	ENST00000372281.3	+	2	159_160	c.129_130insG	c.(130-132)gggfs	p.G44fs	TMEM254-AS1_ENST00000432070.2_RNA|TMEM254_ENST00000372275.1_Frame_Shift_Ins_p.G44fs|TMEM254-AS1_ENST00000412298.1_RNA|TMEM254_ENST00000372277.3_Frame_Shift_Ins_p.G44fs|TMEM254_ENST00000467529.1_3'UTR|TMEM254_ENST00000372274.1_Frame_Shift_Ins_p.G44fs	NM_001270372.1|NM_025125.3	NP_001257301.1|NP_079401.2	Q8TBM7	TM254_HUMAN	transmembrane protein 254	44						integral component of membrane (GO:0016021)											ATCAGAACCTTGGGCCCCTGGG	0.505																																						ENST00000372281.3																			0											c.(127-132)ctggccfs		transmembrane protein 254																																				SO:0001589	frameshift_variant	80195							g.chr10:81841638_81841639insG	BC022252	CCDS7363.1, CCDS58086.1, CCDS58087.1, CCDS73157.1	10q23.1	2012-11-06	2012-11-06	2012-11-06	ENSG00000133678	ENSG00000133678			25804	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 57"""	C10orf57		14702039	Standard	NM_025125		Approved	FLJ13263, bA369J21.6	uc010qlw.3	Q8TBM7	OTTHUMG00000018602	ENST00000372281.3:c.132dupG	10.37:g.81841641_81841641dupG	ENSP00000361355:p.Gly44fs					TMEM254_ENST00000372274.1_Frame_Shift_Ins_p.A44fs|TMEM254_ENST00000467529.1_3'UTR|TMEM254_ENST00000372275.1_Frame_Shift_Ins_p.A44fs|TMEM254_ENST00000372277.3_Frame_Shift_Ins_p.A44fs	p.A44fs	NM_001270372.1|NM_025125.3	NP_001257301.1|NP_079401.2					2	159_160	+								D3DWC8|Q53HP4|Q5JTC0|Q5JTC1|Q6IA45|Q9H8S6	Frame_Shift_Ins	INS	ENST00000372281.3	37	c.129_130insG	CCDS7363.1																																																																																				0.505	TMEM254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049030.1	NM_025125		8	696						8	696	---	---	---	---
AGAP11	119385	broad.mit.edu	37	10	88764064	88764064	+	RNA	DEL	T	T	-			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr10:88764064delT	ENST00000444431.1	+	0	2623				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										TTGTTATGAATTTTTTTTCCT	0.378																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11				4,3964		0,4,1980	124.0	165.0	149.0				0.1	10		150	7,7537		0,7,3765	no	intron	AGAP11	NM_133447.1		0,11,5745	A1A1,A1R,RR		0.0928,0.1008,0.0956			88764064	11,11501	1361	2351	3712			119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88764064delT			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88764064delT						RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA				Q8TF27	AGA11_HUMAN			0	2623	+								B9EIP7|D3DWE4	RNA	DEL	ENST00000444431.1	37																																																																																						0.378	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		7	826						7	826	---	---	---	---
INA	9118	broad.mit.edu	37	10	105048271	105048273	+	In_Frame_Del	DEL	GAG	GAG	-	rs545805667	byFrequency	TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr10:105048271_105048273delGAG	ENST00000369849.4	+	3	1394_1396	c.1345_1347delGAG	c.(1345-1347)gagdel	p.E454del		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	454	Poly-Glu.|Tail.				cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)	p.E449_E450delEE(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ACTTAAGAAAGAGGAGGAGGAGG	0.458														3	0.000599042	0.0008	0.0	5008	,	,		16930	0.001		0.0	False		,,,				2504	0.001					ENST00000369849.4																			1	Deletion - In frame(1)	p.E449_E450delEE(1)	breast(1)	breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13						c.(1345-1347)del		internexin neuronal intermediate filament protein, alpha																																				SO:0001651	inframe_deletion	9118				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton	g.chr10:105048271_105048273delGAG	S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"""Intermediate filaments type IV"""	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.1345_1347delGAG	10.37:g.105048280_105048282delGAG	ENSP00000358865:p.Glu454del						p.E454del	NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN		Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	3	1394_1396	+			454			Poly-Glu.|Tail.		B1AQK0|Q9BRC5	In_Frame_Del	DEL	ENST00000369849.4	37	c.1345_1347delGAG	CCDS7545.1																																																																																				0.458	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	NM_032727		18	450						18	450	---	---	---	---
RAB11FIP2	22841	broad.mit.edu	37	10	119798647	119798647	+	Frame_Shift_Del	DEL	T	T	-	rs35192242		TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr10:119798647delT	ENST00000355624.3	-	3	1540	c.1101delA	c.(1099-1101)aaafs	p.K367fs	RAB11FIP2_ENST00000369199.3_Frame_Shift_Del_p.K367fs|RP11-354M20.3_ENST00000451610.2_RNA|RP11-354M20.3_ENST00000417968.4_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	367					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TTCTGCTATCTTTTTTTCCAG	0.343																																						ENST00000355624.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19						c.(1099-1101)aafs		RAB11 family interacting protein 2 (class I)							194.0	211.0	205.0					10																	119798647		2203	4300	6503	SO:0001589	frameshift_variant	22841				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	g.chr10:119798647delT	AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.1101delA	10.37:g.119798647delT	ENSP00000347839:p.Lys367fs					RP11-354M20.3_ENST00000451610.2_RNA|RAB11FIP2_ENST00000369199.3_Frame_Shift_Del_p.K367fs	p.K367fs	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN		all cancers(201;0.0238)	3	1540	-		Colorectal(252;0.235)	367					A6NEI4|Q3I768|Q9Y2F0	Frame_Shift_Del	DEL	ENST00000355624.3	37	c.1101delA	CCDS7602.1																																																																																				0.343	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	NM_014904		7	861						7	861	---	---	---	---
KRTAP5-5	439915	broad.mit.edu	37	11	1651116	1651127	+	In_Frame_Del	DEL	GGCCGTGGCTCC	GGCCGTGGCTCC	-	rs66665994		TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr11:1651116_1651127delGGCCGTGGCTCC	ENST00000399676.2	+	1	84_95	c.46_57delGGCCGTGGCTCC	c.(46-57)ggccgtggctccdel	p.GRGS16del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	16						keratin filament (GO:0045095)		p.R17C(2)|p.R17L(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		cggctgtggaggccgtggctccggctgtgggg	0.693																																						ENST00000399676.2																			4	Substitution - Missense(4)	p.R17C(2)|p.R17L(2)	ovary(1)|lung(1)|large_intestine(1)|endometrium(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(46-57)del		keratin associated protein 5-5				60,4170		3,54,2058						-1.5	0.8			32	107,8101		1,105,3998	no	coding	KRTAP5-5	NM_001001480.2		4,159,6056	A1A1,A1R,RR		1.3036,1.4184,1.3427				167,12271				SO:0001651	inframe_deletion	439915					keratin filament		g.chr11:1651116_1651127delGGCCGTGGCTCC	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.46_57delGGCCGTGGCTCC	11.37:g.1651116_1651127delGGCCGTGGCTCC	ENSP00000382584:p.Gly16_Ser19del						p.GRGS16del	NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	84_95	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	16					A8MWN2	In_Frame_Del	DEL	ENST00000399676.2	37	c.46_57delGGCCGTGGCTCC	CCDS41592.1																																																																																				0.693	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			12	754						12	754	---	---	---	---
SPON1	10418	broad.mit.edu	37	11	14101781	14101782	+	RNA	INS	-	-	T	rs11432678	byFrequency	TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr11:14101781_14101782insT	ENST00000310358.7	+	0	1211							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		TAttttttttcttttttttttt	0.441													|||unknown(HR)	1735	0.346446	0.1241	0.2738	5008	,	,		21091	0.4494		0.3917	False		,,,				2504	0.546					ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein																																						10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14101781_14101782insT	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14101792_14101792dupT										Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	1211	+								A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	INS	ENST00000310358.7	37																																																																																						0.441	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584		3	6						3	6	---	---	---	---
SPON1	10418	broad.mit.edu	37	11	14276276	14276277	+	RNA	DEL	GT	GT	-	rs144833103		TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr11:14276276_14276277delGT	ENST00000310358.7	+	0	1627							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GACCTATGAGGTGTGTGTGTGT	0.594																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein				1,106,4101		0,0,1,3,100,2000						5.7	1.0		dbSNP_134	77	4,167,8025		0,0,4,1,165,3928	no	splice-5	SPON1	NM_006108.3		0,0,5,4,265,5928	A1A1,A1A2,A1R,A2A2,A2R,RR		2.0864,2.5428,2.2412				5,273,12126						10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14276276_14276277delGT	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14276286_14276287delGT										Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	1627	+								A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	DEL	ENST00000310358.7	37																																																																																						0.594	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584		14	251						14	251	---	---	---	---
TMEM132A	54972	broad.mit.edu	37	11	60703785	60703787	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr11:60703785_60703787delGGA	ENST00000453848.2	+	11	2636_2638	c.2478_2480delGGA	c.(2476-2481)agggag>agg	p.E835del	TMEM132A_ENST00000005286.4_In_Frame_Del_p.E836del			Q24JP5	T132A_HUMAN	transmembrane protein 132A	835	Binds to HSPA5/GRP78. {ECO:0000250}.|Confers cellular localization similar to full-length form. {ECO:0000250}.|Glu-rich.					endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCGAAGCCAGggaggaggaggag	0.635																																						ENST00000005286.4																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.(2479-2484)agg>ag		transmembrane protein 132A																																				SO:0001651	inframe_deletion	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60703785_60703787delGGA	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.2478_2480delGGA	11.37:g.60703794_60703796delGGA	ENSP00000405823:p.Glu835del					TMEM132A_ENST00000453848.2_In_Frame_Del_p.RE826del	p.RE827del	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN			11	2634_2636	+			826			Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).|Glu-rich.		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	In_Frame_Del	DEL	ENST00000453848.2	37	c.2481_2483delGGA	CCDS44618.1																																																																																				0.635	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		7	422						7	422	---	---	---	---
RTN3	10313	broad.mit.edu	37	11	63525788	63525788	+	3'UTR	DEL	T	T	-			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr11:63525788delT	ENST00000377819.5	+	0	3368				RTN3_ENST00000341307.2_3'UTR|RTN3_ENST00000354497.4_Frame_Shift_Del_p.A190fs|RTN3_ENST00000356000.3_3'UTR|C11orf95_ENST00000433688.1_lincRNA|RTN3_ENST00000537981.1_3'UTR|RTN3_ENST00000540798.1_3'UTR|RTN3_ENST00000339997.4_3'UTR	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3						apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CATTCCAAGCTTTTTTTTTAA	0.348																																						ENST00000354497.4																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(568-570)gcfs		reticulon 3							48.0	49.0	49.0					11																	63525788		2201	4298	6499	SO:0001624	3_prime_UTR_variant	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63525788delT	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.*115T>-	11.37:g.63525788delT						RTN3_ENST00000537981.1_3'UTR|RTN3_ENST00000341307.2_3'UTR|RTN3_ENST00000377819.5_3'UTR|RTN3_ENST00000540798.1_3'UTR|RTN3_ENST00000339997.4_3'UTR|RTN3_ENST00000356000.3_3'UTR	p.A190fs	NM_001265591.1	NP_001252520.1	O95197	RTN3_HUMAN			4	634	+			0					B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Frame_Shift_Del	DEL	ENST00000377819.5	37	c.570delT	CCDS58141.1																																																																																				0.348	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		9	319						9	319	---	---	---	---
PPFIA1	8500	broad.mit.edu	37	11	70194407	70194407	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr11:70194407delC	ENST00000253925.7	+	16	2259	c.2044delC	c.(2044-2046)cccfs	p.P683fs	PPFIA1_ENST00000389547.3_Frame_Shift_Del_p.P683fs|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	683					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GAGCTCCATTCCCCCCTACCC	0.557																																						ENST00000253925.7																			0				breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65						c.(2044-2046)ccfs		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1							235.0	199.0	211.0					11																	70194407		2200	4294	6494	SO:0001589	frameshift_variant	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70194407delC	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2044delC	11.37:g.70194407delC	ENSP00000253925:p.Pro683fs					PPFIA1_ENST00000389547.3_Frame_Shift_Del_p.P683fs|AP000487.6_ENST00000528607.1_RNA	p.P683fs	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		16	2259	+			683					A6NLE3|Q13135|Q14567|Q8N4I2	Frame_Shift_Del	DEL	ENST00000253925.7	37	c.2044delC	CCDS31627.1																																																																																				0.557	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		7	1182						7	1182	---	---	---	---
DDX6	1656	broad.mit.edu	37	11	118629613	118629614	+	Splice_Site	INS	-	-	G	rs200755405		TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr11:118629613_118629614insG	ENST00000526070.2	-	9	1225		c.e9-2		DDX6_ENST00000264018.4_Splice_Site|DDX6_ENST00000534980.1_Splice_Site	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6						cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL																																	ENST00000264018.4				Dom	yes		11	11q23.3	1656	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6			L	IGH@		B-NHL		0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13						c.e9-2		DEAD (Asp-Glu-Ala-Asp) box helicase 6				28,3478		0,28,1725						5.8	1.0			104	55,7749		0,55,3847	no	splice-3	DDX6	NM_004397.4		0,83,5572	A1A1,A1R,RR		0.7048,0.7986,0.7339				83,11227				SO:0001630	splice_region_variant	1656				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity	g.chr11:118629613_118629614insG	D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.865-2->C	11.37:g.118629621_118629621dupG						DDX6_ENST00000534980.1_Splice_Site|DDX6_ENST00000526070.2_Splice_Site		NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)	9	1170	-	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)						Q5D048	Splice_Site	INS	ENST00000526070.2	37		CCDS44751.1																																																																																				0.426	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397	Intron	11	627						11	627	---	---	---	---
C1QTNF5	114902	broad.mit.edu	37	11	119210189	119210190	+	Frame_Shift_Ins	INS	-	-	C	rs369839371		TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr11:119210189_119210190insC	ENST00000528368.1	-	3	814_815	c.583_584insG	c.(583-585)gccfs	p.A195fs	C1QTNF5_ENST00000445041.2_Frame_Shift_Ins_p.A195fs|RP11-334E6.10_ENST00000501918.2_RNA|MFRP_ENST00000530681.1_3'UTR|C1QTNF5_ENST00000525657.1_5'UTR|MFRP_ENST00000555262.1_3'UTR	NM_001278431.1	NP_001265360.1	Q9BXJ0	C1QT5_HUMAN	C1q and tumor necrosis factor related protein 5	195	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CCTCACCATGGCCCCCCCCGAG	0.589																																						ENST00000445041.2																			0				endometrium(1)|lung(2)	3						c.(583-585)catfs		C1q and tumor necrosis factor related protein 5																																				SO:0001589	frameshift_variant	114902				embryo development	integral to membrane		g.chr11:119210189_119210190insC	AF329841	CCDS8420.1	11q23.3	2013-05-10				ENSG00000223953			14344	protein-coding gene	gene with protein product	"""complement-c1q tumor necrosis factor-related protein 5"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 3"""	608752				12944416	Standard	NM_015645		Approved	CTRP5, DKFZp586B0621, LORD		Q9BXJ0	OTTHUMG00000166198	ENST00000528368.1:c.584dupG	11.37:g.119210197_119210197dupC	ENSP00000431140:p.Ala195fs					C1QTNF5_ENST00000525657.1_5'UTR|C1QTNF5_ENST00000528368.1_Frame_Shift_Ins_p.H195fs|MFRP_ENST00000530681.1_3'UTR|MFRP_ENST00000555262.1_3'UTR	p.H195fs	NM_001278431.1|NM_015645.3|NM_031433.2	NP_001265360.1|NP_056460.1|NP_113621.1	Q9BY79	MFRP_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)	15	3378_3379	-		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	147			CUB 1.		A6NDD3|B0YJ35|Q335M2|Q8N6P2|Q9UFX4	Frame_Shift_Ins	INS	ENST00000528368.1	37	c.583_584insG	CCDS8420.1																																																																																				0.589	C1QTNF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388354.1	NM_015645		7	326						7	326	---	---	---	---
VPS29	51699	broad.mit.edu	37	12	110930880	110930881	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr12:110930880_110930881delTG	ENST00000549578.1	-	3	416_417	c.351_352delCA	c.(349-354)cacaaafs	p.HK117fs	VPS29_ENST00000360579.7_Frame_Shift_Del_p.HK121fs|VPS29_ENST00000546588.1_Frame_Shift_Del_p.HK149fs|VPS29_ENST00000447578.2_Frame_Shift_Del_p.HK22fs|VPS29_ENST00000549970.1_Frame_Shift_Del_p.HK22fs|VPS29_ENST00000552130.2_Frame_Shift_Del_p.HK22fs	NM_016226.3	NP_057310.1	Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 homolog (S. cerevisiae)	117					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphoserine phosphatase activity (GO:0004647)			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						GCTTCAAATTTGTGTGTGTGTC	0.421																																						ENST00000549578.1																			0				kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(349-354)caaafs		vacuolar protein sorting 29 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	51699				protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity	g.chr12:110930880_110930881delTG	AF193795	CCDS41832.1, CCDS53832.1, CCDS73525.1	12q24	2006-12-19	2006-12-19			ENSG00000111237			14340	protein-coding gene	gene with protein product		606932	"""vacuolar protein sorting 29 (yeast homolog)"", ""vacuolar protein sorting 29 (yeast)"""			11062004	Standard	NM_001282151		Approved	PEP11, DC7, DC15	uc001tqx.3	Q9UBQ0	OTTHUMG00000169527	ENST00000549578.1:c.351_352delCA	12.37:g.110930888_110930889delTG	ENSP00000447058:p.His117fs					VPS29_ENST00000546588.1_Frame_Shift_Del_p.HK149fs|VPS29_ENST00000447578.2_Frame_Shift_Del_p.HK22fs|VPS29_ENST00000549970.1_Frame_Shift_Del_p.HK22fs|VPS29_ENST00000552130.2_Frame_Shift_Del_p.HK22fs|VPS29_ENST00000360579.7_Frame_Shift_Del_p.HK121fs	p.HK117fs	NM_016226.3	NP_057310.1	Q9UBQ0	VPS29_HUMAN			3	416_417	-			117					Q502Y5|Q6FIF8|Q6IAH3|Q9H0W0|Q9NRP1|Q9NRU7	Frame_Shift_Del	DEL	ENST00000549578.1	37	c.351_352delCA	CCDS41832.1																																																																																				0.421	VPS29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404623.1			8	374						8	374	---	---	---	---
TPCN1	53373	broad.mit.edu	37	12	113707611	113707613	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr12:113707611_113707613delCTG	ENST00000335509.6	+	7	1023_1025	c.709_711delCTG	c.(709-711)ctgdel	p.L240del	TPCN1_ENST00000541517.1_In_Frame_Del_p.L312del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L172del|TPCN1_ENST00000550785.1_In_Frame_Del_p.L312del	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	240					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)	p.L237L(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGACATCCTCCTGCTGCTGCTGT	0.601																																						ENST00000550785.1																			1	Substitution - coding silent(1)	p.L237L(1)	large_intestine(1)	cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(925-927)del		two pore segment channel 1																																				SO:0001651	inframe_deletion	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113707611_113707613delCTG	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.709_711delCTG	12.37:g.113707620_113707622delCTG	ENSP00000335300:p.Leu240del					TPCN1_ENST00000541517.1_In_Frame_Del_p.L312del|TPCN1_ENST00000335509.6_In_Frame_Del_p.L240del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L172del	p.L312del	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			8	1094_1096	+			240					A7E258|Q86XS9|Q8NC20	In_Frame_Del	DEL	ENST00000335509.6	37	c.925_927delCTG	CCDS31908.1																																																																																				0.601	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		7	545						7	545	---	---	---	---
RBM25	58517	broad.mit.edu	37	14	73574574	73574576	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr14:73574574_73574576delATG	ENST00000261973.7	+	13	1793_1795	c.1508_1510delATG	c.(1507-1512)tatgat>tat	p.D506del	RBM25_ENST00000527432.1_In_Frame_Del_p.D506del|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	506	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		TTAGAAGACTATGATGATGATAG	0.33																																						ENST00000261973.7																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(1507-1512)tat>t		RNA binding motif protein 25																																				SO:0001651	inframe_deletion	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73574574_73574576delATG	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1508_1510delATG	14.37:g.73574580_73574582delATG	ENSP00000261973:p.Asp506del					RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_In_Frame_Del_p.YD503del	p.YD503del	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	13	1793_1795	+			503			Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	In_Frame_Del	DEL	ENST00000261973.7	37	c.1508_1510delATG	CCDS32113.1																																																																																				0.330	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		8	1265						8	1265	---	---	---	---
LRRC37A16P	651250	broad.mit.edu	37	17	66141032	66141032	+	RNA	DEL	C	C	-	rs76883902|rs370970351|rs372081386	byFrequency	TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr17:66141032delC	ENST00000590019.1	-	0	70									leucine rich repeat containing 37, member A16, pseudogene																		AAAAAAAAAACATAAGCCAAA	0.338																																						ENST00000590019.1																			0																																																			0							g.chr17:66141032delC			17q24.2	2012-10-18				ENSG00000267023			43820	pseudogene	pseudogene							Standard	NG_023507		Approved				OTTHUMG00000180160		17.37:g.66141032delC														0	70	-									RNA	DEL	ENST00000590019.1	37																																																																																						0.338	LRRC37A16P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000450078.1			10	373						10	373	---	---	---	---
ANKRD20A5P	440482	broad.mit.edu	37	18	14249254	14249254	+	lincRNA	DEL	A	A	-	rs71176025	byFrequency	TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr18:14249254delA	ENST00000580200.1	+	0	217																											GTTTAAACACAATTAGAATTA	0.303													|||unknown(NO_COVERAGE)	257	0.0513179	0.0613	0.0504	5008	,	,		18880	0.002		0.1014	False		,,,				2504	0.0378					ENST00000580200.1																			0																																																			0							g.chr18:14249254delA																													18.37:g.14249254delA														0	217	+									RNA	DEL	ENST00000580200.1	37																																																																																						0.303	RP11-757O6.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000442841.1			4	5						4	5	---	---	---	---
HAUS8	93323	broad.mit.edu	37	19	17160706	17160707	+	Frame_Shift_Del	DEL	GA	GA	-	rs532006952		TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr19:17160706_17160707delGA	ENST00000253669.5	-	11	1399_1400	c.1209_1210delTC	c.(1207-1212)tctcgtfs	p.R404fs	HAUS8_ENST00000593360.1_Frame_Shift_Del_p.R343fs|CTD-2528A14.3_ENST00000598893.1_RNA|HAUS8_ENST00000448593.2_Frame_Shift_Del_p.R403fs			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	404					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CTCCCTGAACGAGAGAGAGAGG	0.495																																						ENST00000593360.1																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						c.(1024-1029)tcgtfs		HAUS augmin-like complex, subunit 8																																				SO:0001589	frameshift_variant	93323				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr19:17160706_17160707delGA	BC004398	CCDS32948.1, CCDS46009.1	19p13.11	2013-10-11	2009-04-20	2009-04-20	ENSG00000131351	ENSG00000131351		"""HAUS augmin-like complex subunits"""	30532	protein-coding gene	gene with protein product		613434	"""HEC1/NDC80 interacting, centrosome associated 1"""	HICE1		19427217	Standard	XM_005260154		Approved	MGC20533, NY-SAR-48	uc002nfe.3	Q9BT25		ENST00000253669.5:c.1209_1210delTC	19.37:g.17160714_17160715delGA	ENSP00000253669:p.Arg404fs					HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs|HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs	p.SR342fs			Q9BT25	HAUS8_HUMAN			10	3044_3045	-			403					B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Frame_Shift_Del	DEL	ENST00000253669.5	37	c.1026_1027delTC	CCDS32948.1																																																																																				0.495	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463015.1	NM_001011699		9	987						9	987	---	---	---	---
ATP4A	495	broad.mit.edu	37	19	36054349	36054351	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr19:36054349_36054351delCTT	ENST00000262623.3	-	2	119_121	c.91_93delAAG	c.(91-93)aagdel	p.K31del		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	31					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CGCCACCCGCCTTCTTCTTCTTG	0.601																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(91-93)del		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)																																			SO:0001651	inframe_deletion	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36054349_36054351delCTT		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.91_93delAAG	19.37:g.36054358_36054360delCTT	ENSP00000262623:p.Lys31del						p.K31del	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	119_121	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		31					O00738	In_Frame_Del	DEL	ENST00000262623.3	37	c.91_93delAAG	CCDS12467.1																																																																																				0.601	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		7	891						7	891	---	---	---	---
ANKRD20A18P	391269	broad.mit.edu	37	21	15441192	15441193	+	RNA	INS	-	-	T	rs148464975		TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr21:15441192_15441193insT	ENST00000428809.1	+	0	177				RNA5SP488_ENST00000364942.1_RNA|AP001347.6_ENST00000448463.1_RNA|AP001347.6_ENST00000432621.1_RNA																							TGTATTTTGAATTCTTGGAATT	0.361																																						ENST00000428809.1																			0																																																			0							g.chr21:15441192_15441193insT																													21.37:g.15441194_15441194dupT														0	177	+									RNA	INS	ENST00000428809.1	37																																																																																						0.361	AP001347.6-001	KNOWN	basic	antisense	antisense	OTTHUMT00000157812.1			7	525						7	525	---	---	---	---
LA16c-23H5.4	0	broad.mit.edu	37	22	16419352	16419352	+	RNA	DEL	T	T	-			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr22:16419352delT	ENST00000444162.1	+	0	279																											GAATCGACGATTTTTTTTTTG	0.398																																						ENST00000444162.1																			0																																																			0							g.chr22:16419352delT																													22.37:g.16419352delT														0	279	+									RNA	DEL	ENST00000444162.1	37																																																																																						0.398	LA16c-23H5.4-004	KNOWN	basic	antisense	antisense	OTTHUMT00000074929.2			9	30						9	30	---	---	---	---
