#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
ZNF605	100289635	broad.mit.edu	37	12	133502222	133502222	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:133502222G>T	ENST00000360187.4	-	5	2011	c.1663C>A	c.(1663-1665)Cac>Aac	p.H555N	ZNF605_ENST00000331711.7_5'Flank|ZNF605_ENST00000392321.3_Missense_Mutation_p.H586N	NM_183238.3	NP_899061.1	Q86T29	ZN605_HUMAN	zinc finger protein 605	555					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00227)|all_epithelial(31;0.142)		OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06)		TCTCCTGTGTGATTTCTTTGA	0.418																																						ENST00000360187.4																			0				breast(1)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(1663-1665)Cac>Aac		zinc finger protein 605							134.0	131.0	132.0					12																	133502222		2203	4300	6503	SO:0001583	missense	100289635				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:133502222G>T	AL832623	CCDS31938.1, CCDS53850.1	12q24.33	2013-01-08	2009-09-11	2009-09-11		ENSG00000196458		"""Zinc fingers, C2H2-type"", ""-"""	28068	protein-coding gene	gene with protein product							Standard	NM_183238		Approved		uc001uli.3	Q86T29		ENST00000360187.4:c.1663C>A	12.37:g.133502222G>T	ENSP00000353314:p.His555Asn					ZNF605_ENST00000392321.3_Missense_Mutation_p.H586N	p.H555N	NM_183238.3	NP_899061.1	Q86T29	ZN605_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06)	5	2011	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00227)|all_epithelial(31;0.142)	555					B3KVG4|D3DXJ0|Q86T91	Missense_Mutation	SNP	ENST00000360187.4	37	c.1663C>A	CCDS31938.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.534721	0.45073	.	.	ENSG00000196458	ENST00000360187;ENST00000392321	T;T	0.67345	-0.26;-0.26	3.72	2.82	0.32997	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.252780	0.20753	N	0.086306	D	0.82403	0.5029	H	0.95884	3.735	0.34548	D	0.711044	D;P	0.59767	0.986;0.474	P;B	0.55455	0.776;0.099	D	0.88781	0.3271	10	0.72032	D	0.01	.	10.1991	0.43073	0.1017:0.0:0.8983:0.0	.	586;555	B3KVG4;Q86T29	.;ZN605_HUMAN	N	555;586	ENSP00000353314:H555N;ENSP00000376135:H586N	ENSP00000353314:H555N	H	-	1	0	ZNF605	132012295	1.000000	0.71417	0.933000	0.37362	0.587000	0.36485	6.182000	0.71995	0.909000	0.36697	0.462000	0.41574	CAC		0.418	ZNF605-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397135.2	NM_183238		13	586	1	0	2.31682e-05	2.31682e-05	0.00456484	13	586				
CCDC30	728621	broad.mit.edu	37	1	43047064	43047064	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:43047064C>A	ENST00000340612.4	+	7	1099	c.1099C>A	c.(1099-1101)Cat>Aat	p.H367N	CCDC30_ENST00000507855.1_Missense_Mutation_p.H156N|CCDC30_ENST00000390640.4_Missense_Mutation_p.H156N|CCDC30_ENST00000428554.2_Missense_Mutation_p.H367N|CCDC30_ENST00000342022.4_Missense_Mutation_p.H367N			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	367						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AGAACATGCTCATAAAGTCTG	0.348																																						ENST00000428554.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						c.(1099-1101)Cat>Aat		coiled-coil domain containing 30							91.0	94.0	93.0					1																	43047064		2203	4300	6503	SO:0001583	missense	728621							g.chr1:43047064C>A	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1099C>A	1.37:g.43047064C>A	ENSP00000340378:p.His367Asn					CCDC30_ENST00000340612.4_Missense_Mutation_p.H367N|CCDC30_ENST00000342022.4_Missense_Mutation_p.H367N|CCDC30_ENST00000390640.4_Missense_Mutation_p.H156N|CCDC30_ENST00000507855.1_Missense_Mutation_p.H156N	p.H367N			Q5VVM6	CCD30_HUMAN			15	2242	+			367					Q14F06|Q5VVM5	Missense_Mutation	SNP	ENST00000340612.4	37	c.1099C>A	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701346	0.30142	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	5.65	1.32	0.21799	.	0.550040	0.19977	N	0.101853	T	0.32194	0.0821	L	0.38838	1.175	0.09310	N	1	B;B;B	0.22003	0.002;0.0;0.063	B;B;B	0.15870	0.001;0.001;0.014	T	0.16070	-1.0415	10	0.24483	T	0.36	.	8.5805	0.33626	0.3756:0.5512:0.0:0.0732	.	367;151;156	Q5VVM6;Q6N081;Q5VVM6-2	CCD30_HUMAN;.;.	N	367;156;367;367;156	ENSP00000397035:H367N;ENSP00000426711:H156N;ENSP00000340378:H367N;ENSP00000339280:H367N;ENSP00000375051:H156N	ENSP00000340378:H367N	H	+	1	0	CCDC30	42819651	0.497000	0.26067	0.064000	0.19789	0.955000	0.61496	0.970000	0.29383	0.377000	0.24735	0.650000	0.86243	CAT		0.348	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		14	683	1	0	8.00594e-06	8.00594e-06	0.00188799	14	683				
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81443821	81443821	+	RNA	SNP	C	C	G	rs564183572		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr10:81443821C>G	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							GCAGCACCATCGCCTCAGACC	0.612																																						ENST00000600376.1																			0																																																			0							g.chr10:81443821C>G																													10.37:g.81443821C>G						RP11-119F19.2_ENST00000596088.1_RNA								0	54	-									RNA	SNP	ENST00000600376.1	37																																																																																						0.612	RP11-119F19.2-004	KNOWN	basic	antisense	antisense	OTTHUMT00000461766.1			6	134	0	0	0	2.17888e-05	0	6	134				
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527													.|||	3140	0.626997	0.9395	0.5	5008	,	,		11330	0.7847		0.4702	False		,,,				2504	0.2935					ENST00000567960.1																			3	Substitution - Missense(3)	p.I221T(3)	kidney(2)|prostate(1)																																																0							g.chr16:90161926T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161926T>C						TUBB8P7_ENST00000564451.1_RNA								0	662	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.527	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	128	0	0	0	1.23904e-05	0	5	128				
EPHB1	2047	broad.mit.edu	37	3	134873104	134873104	+	Silent	SNP	C	C	A	rs202048188		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:134873104C>A	ENST00000398015.3	+	6	1778	c.1408C>A	c.(1408-1410)Cgg>Agg	p.R470R	EPHB1_ENST00000493838.1_Silent_p.R31R	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	470	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CTATGAGATCCGGTACTATGA	0.542																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(1408-1410)Cgg>Agg		EPH receptor B1							102.0	106.0	105.0					3																	134873104		2187	4299	6486	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134873104C>A	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1408C>A	3.37:g.134873104C>A						EPHB1_ENST00000493838.1_Silent_p.R31R	p.R470R	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			6	1778	+			470			Fibronectin type-III 2.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.1408C>A	CCDS46921.1																																																																																				0.542	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		8	375	1	0	1.12685e-05	1.12685e-05	0.00245395	8	375				
VRK2	7444	broad.mit.edu	37	2	58315553	58315553	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:58315553C>A	ENST00000435505.2	+	9	1167	c.422C>A	c.(421-423)tCa>tAa	p.S141*	VRK2_ENST00000340157.4_Nonsense_Mutation_p.S141*|VRK2_ENST00000417641.2_Nonsense_Mutation_p.S141*|VRK2_ENST00000412104.2_Nonsense_Mutation_p.S141*|VRK2_ENST00000440705.2_Nonsense_Mutation_p.S118*			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	141	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						TTTAAAAAGTCAACTGTCCTG	0.333																																						ENST00000435505.2																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						c.(421-423)tCa>tAa		vaccinia related kinase 2							133.0	138.0	136.0					2																	58315553		2203	4298	6501	SO:0001587	stop_gained	7444					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:58315553C>A	AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.422C>A	2.37:g.58315553C>A	ENSP00000408002:p.Ser141*					VRK2_ENST00000340157.4_Nonsense_Mutation_p.S141*|VRK2_ENST00000417641.2_Nonsense_Mutation_p.S141*|VRK2_ENST00000412104.2_Nonsense_Mutation_p.S141*|VRK2_ENST00000440705.2_Nonsense_Mutation_p.S118*	p.S141*			Q86Y07	VRK2_HUMAN			9	1167	+			141			Protein kinase.		B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Nonsense_Mutation	SNP	ENST00000435505.2	37	c.422C>A	CCDS1859.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419299	0.83559	.	.	ENSG00000028116	ENST00000435505;ENST00000417641;ENST00000423109;ENST00000412104;ENST00000340157;ENST00000394539;ENST00000440705	.	.	.	5.63	2.31	0.28768	.	0.718459	0.14216	N	0.333731	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-2.966	7.6074	0.28110	0.3729:0.5411:0.0:0.086	.	.	.	.	X	141;141;145;141;141;141;118	.	ENSP00000342381:S141X	S	+	2	0	VRK2	58169057	0.999000	0.42202	0.943000	0.38184	0.354000	0.29330	1.869000	0.39519	0.806000	0.34183	0.655000	0.94253	TCA		0.333	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2	NM_006296		13	906	1	0	1.49906e-05	1.49906e-05	0.0031734	13	906				
CHEK2P2	646096	broad.mit.edu	37	15	20496770	20496770	+	RNA	SNP	T	T	C	rs3865047		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr15:20496770T>C	ENST00000555186.1	+	0	823					NR_038836.1				checkpoint kinase 2 pseudogene 2																		TTATAGTGTGTATTTTAATTA	0.353																																						ENST00000555186.1																			0																																																			0							g.chr15:20496770T>C			15q11.1	2011-11-11			ENSG00000259156	ENSG00000259156			43578	pseudogene	pseudogene							Standard	NR_038836		Approved		uc001ytf.1		OTTHUMG00000171660		15.37:g.20496770T>C								NR_038836.1						0	823	+									RNA	SNP	ENST00000555186.1	37																																																																																						0.353	CHEK2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000414654.1	NR_038836		19	146	0	0	0	5.3912e-06	0	19	146				
CCPG1	9236	broad.mit.edu	37	15	55657508	55657508	+	Splice_Site	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr15:55657508C>A	ENST00000310958.6	-	7	1005		c.e7-1		CCPG1_ENST00000425574.3_Splice_Site|CCPG1_ENST00000442196.3_Splice_Site|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000569205.1_Splice_Site	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1						cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TGAATTGTGCCtaaaataaat	0.274																																						ENST00000310958.6																			0				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30						c.e7-1		cell cycle progression 1							58.0	56.0	57.0					15																	55657508		1775	4033	5808	SO:0001630	splice_region_variant	9236				cell cycle	integral to membrane		g.chr15:55657508C>A	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.707-1G>T	15.37:g.55657508C>A						CCPG1_ENST00000425574.3_Splice_Site|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Splice_Site|CCPG1_ENST00000569205.1_Splice_Site		NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN		all cancers(107;0.0354)	7	1005	-								A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Splice_Site	SNP	ENST00000310958.6	37		CCDS42039.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.694925	0.30052	.	.	ENSG00000256061	ENST00000310958;ENST00000442196;ENST00000425574	.	.	.	4.41	3.43	0.39272	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.8455	0.08933	0.0:0.7328:0.0:0.2672	.	.	.	.	.	-1	.	.	.	-	.	.	DYX1C1	53444800	1.000000	0.71417	0.838000	0.33150	0.705000	0.40729	5.724000	0.68500	0.917000	0.36895	0.460000	0.39030	.		0.274	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748	Intron	10	647	1	0	3.86212e-05	3.86212e-05	0.00711662	10	647				
PSMD1	5707	broad.mit.edu	37	2	231937111	231937111	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:231937111C>A	ENST00000308696.6	+	7	1025	c.863C>A	c.(862-864)cCg>cAg	p.P288Q	PSMD1_ENST00000409643.1_Missense_Mutation_p.P288Q|PSMD1_ENST00000373635.4_Missense_Mutation_p.P288Q	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	288					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.P288Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GGTACTGTTCCGGGATCAGAG	0.403																																						ENST00000308696.6																			1	Substitution - Missense(1)	p.P288Q(1)	lung(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31						c.(862-864)cCg>cAg		proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	Bortezomib(DB00188)						111.0	115.0	113.0					2																	231937111		2203	4300	6503	SO:0001583	missense	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:231937111C>A	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.863C>A	2.37:g.231937111C>A	ENSP00000309474:p.Pro288Gln					PSMD1_ENST00000373635.4_Missense_Mutation_p.P288Q|PSMD1_ENST00000409643.1_Missense_Mutation_p.P288Q	p.P288Q	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	7	1025	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	288					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	37	c.863C>A	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.655523	0.88056	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	.	.	.	5.98	5.98	0.97165	Armadillo-type fold (1);	0.140827	0.64402	D	0.000003	T	0.59824	0.2222	L	0.48986	1.54	0.80722	D	1	B;B	0.28178	0.002;0.202	B;B	0.30251	0.006;0.113	T	0.53995	-0.8359	9	0.15952	T	0.53	-2.5112	20.4581	0.99154	0.0:1.0:0.0:0.0	.	288;288	Q99460;Q99460-2	PSMD1_HUMAN;.	Q	288	.	ENSP00000309474:P288Q	P	+	2	0	PSMD1	231645355	1.000000	0.71417	0.997000	0.53966	0.869000	0.49853	7.818000	0.86416	2.835000	0.97688	0.650000	0.86243	CCG		0.403	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			10	762	1	0	1.12685e-05	1.12685e-05	0.00245395	10	762				
AFG3L2	10939	broad.mit.edu	37	18	12363818	12363818	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr18:12363818C>A	ENST00000269143.3	-	6	821	c.590G>T	c.(589-591)cGa>cTa	p.R197L		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	197					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.R197L(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	AAAGGTCACTCGAACAAAACG	0.303																																						ENST00000269143.3																			1	Substitution - Missense(1)	p.R197L(1)	lung(1)	NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27						c.(589-591)cGa>cTa		AFG3-like AAA ATPase 2	Adenosine triphosphate(DB00171)						83.0	91.0	89.0					18																	12363818		2203	4300	6503	SO:0001583	missense	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12363818C>A	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.590G>T	18.37:g.12363818C>A	ENSP00000269143:p.Arg197Leu						p.R197L	NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN			6	821	-			197					Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	37	c.590G>T	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327340	0.81690	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	T	0.74842	-0.88	5.49	5.49	0.81192	Peptidase M41, FtsH extracellular (1);Peptidase M41, FtsH (1);	0.049635	0.85682	D	0.000000	D	0.87063	0.6084	M	0.83953	2.67	0.58432	D	0.999999	D	0.63046	0.992	D	0.63793	0.918	D	0.88175	0.2867	10	0.72032	D	0.01	.	19.7238	0.96153	0.0:1.0:0.0:0.0	.	197	Q9Y4W6	AFG32_HUMAN	L	197;212	ENSP00000269143:R197L	ENSP00000269143:R197L	R	-	2	0	AFG3L2	12353818	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.614000	0.46359	2.740000	0.93945	0.561000	0.74099	CGA		0.303	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		12	755	1	0	5.3912e-06	5.3912e-06	0.00130912	12	755				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		5	228	0	0	0	1.23904e-05	0	5	228				
SCAF11	9169	broad.mit.edu	37	12	46320956	46320956	+	Missense_Mutation	SNP	C	C	A	rs11574972		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:46320956C>A	ENST00000369367.3	-	11	2761	c.2528G>T	c.(2527-2529)cGg>cTg	p.R843L	SCAF11_ENST00000465950.1_Missense_Mutation_p.R528L|SCAF11_ENST00000549162.1_Missense_Mutation_p.R651L|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000419565.2_Missense_Mutation_p.R843L	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	843	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGATTTTTTCCGGCCTCTGGC	0.478																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(1582-1584)cGg>cTg		SR-related CTD-associated factor 11							114.0	115.0	114.0					12																	46320956		2203	4300	6503	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46320956C>A	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2528G>T	12.37:g.46320956C>A	ENSP00000358374:p.Arg843Leu					SCAF11_ENST00000369367.3_Missense_Mutation_p.R843L|SCAF11_ENST00000549162.1_Missense_Mutation_p.R651L|SCAF11_ENST00000419565.2_Missense_Mutation_p.R843L	p.R528L			Q99590	SCAFB_HUMAN			1	2792	-			843					A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.1583G>T	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395667	0.62177	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.51574	1.31;2.05;1.31;2.05;0.7	5.93	5.04	0.67666	.	0.404774	0.23900	N	0.043443	T	0.60792	0.2296	M	0.61703	1.905	0.30181	N	0.800444	D;D	0.69078	0.997;0.984	P;P	0.59056	0.851;0.607	T	0.63963	-0.6518	10	0.52906	T	0.07	-2.496	13.3072	0.60359	0.0:0.9274:0.0:0.0726	.	651;843	F8VXG7;Q99590	.;SCAFB_HUMAN	L	528;843;651;843;783	ENSP00000449812:R528L;ENSP00000358374:R843L;ENSP00000448864:R651L;ENSP00000413036:R843L;ENSP00000446746:R783L	ENSP00000358374:R843L	R	-	2	0	SCAF11	44607223	0.912000	0.30974	0.817000	0.32601	0.973000	0.67179	2.628000	0.46477	1.518000	0.48934	0.655000	0.94253	CGG		0.478	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		14	806	1	0	5.01169e-05	5.01169e-05	0.00884117	14	806				
PRSS3P2	154754	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										GGTCTGCAATGGACAGCTTCA	0.493																																						ENST00000603901.1																			0																																																			0							g.chr7:142482242G>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482242G>A								NR_001296.3						0	622	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		10	262	0	0	0	1.64113e-05	0	10	262				
DCP1B	196513	broad.mit.edu	37	12	2062397	2062397	+	Missense_Mutation	SNP	T	T	C			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:2062397T>C	ENST00000280665.6	-	7	788	c.709A>G	c.(709-711)Aaa>Gaa	p.K237E	DCP1B_ENST00000540622.1_Missense_Mutation_p.K111E|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.K135E	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	237					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)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			CATGTAGCTTTGTCCTGCTTC	0.488																																						ENST00000280665.6																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(709-711)Aaa>Gaa		decapping mRNA 1B							56.0	59.0	58.0					12																	2062397		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062397T>C	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.709A>G	12.37:g.2062397T>C	ENSP00000280665:p.Lys237Glu					DCP1B_ENST00000540622.1_Missense_Mutation_p.K111E|DCP1B_ENST00000397173.4_Missense_Mutation_p.K135E|DCP1B_ENST00000541700.1_5'UTR	p.K237E	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	788	-			237					B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.709A>G	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.579542	0.46006	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.19669	2.19;2.18;2.13	4.93	3.79	0.43588	.	0.725582	0.14262	N	0.330731	T	0.29223	0.0727	M	0.67953	2.075	0.38015	D	0.934657	P;P	0.47762	0.884;0.9	P;B	0.46419	0.516;0.334	T	0.16041	-1.0416	10	0.62326	D	0.03	-2.4726	9.7109	0.40245	0.0:0.0816:0.0:0.9184	.	135;237	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	E	237;135;111	ENSP00000280665:K237E;ENSP00000380358:K135E;ENSP00000444374:K111E	ENSP00000280665:K237E	K	-	1	0	DCP1B	1932658	0.998000	0.40836	0.662000	0.29724	0.161000	0.22273	2.946000	0.49050	0.912000	0.36772	0.528000	0.53228	AAA		0.488	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		27	204	0	0	0	4.66903e-05	0	27	204				
TLE1	7088	broad.mit.edu	37	9	84208113	84208113	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:84208113C>A	ENST00000376499.3	-	15	2472	c.1408G>T	c.(1408-1410)Gga>Tga	p.G470*		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	470					multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CGGGGGATTCCGGGTCCGATG	0.592																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1408-1410)Gga>Tga		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)							102.0	98.0	99.0					9																	84208113		2203	4300	6503	SO:0001587	stop_gained	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84208113C>A		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1408G>T	9.37:g.84208113C>A	ENSP00000365682:p.Gly470*						p.G470*	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN			15	2472	-			470					A8K495|Q5T3G4|Q969V9	Nonsense_Mutation	SNP	ENST00000376499.3	37	c.1408G>T	CCDS6661.1	.	.	.	.	.	.	.	.	.	.	c	49	15.038241	0.99820	.	.	ENSG00000196781	ENST00000376499	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.4443	20.422	0.99049	0.0:1.0:0.0:0.0	.	.	.	.	X	470	.	ENSP00000365682:G470X	G	-	1	0	TLE1	83397933	1.000000	0.71417	0.964000	0.40570	0.971000	0.66376	6.079000	0.71291	2.832000	0.97577	0.655000	0.94253	GGA		0.592	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		10	554	1	0	1.58986e-06	3.86212e-05	0.000423164	10	554				
SPATA16	83893	broad.mit.edu	37	3	172634107	172634107	+	Splice_Site	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:172634107C>A	ENST00000351008.3	-	9	1686	c.1503G>T	c.(1501-1503)ttG>ttT	p.L501F		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	501					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AAATACTTACCAATTCTGCCT	0.408																																						ENST00000351008.3																			0				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.e9+1		spermatogenesis associated 16							154.0	153.0	153.0					3																	172634107		2203	4300	6503	SO:0001630	splice_region_variant	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172634107C>A	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.1503+1G>T	3.37:g.172634107C>A							p.L501_splice	NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		9	1686	-	Ovarian(172;0.00319)|Breast(254;0.197)		501					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Splice_Site	SNP	ENST00000351008.3	37	c.1503_splice	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.491014	0.64074	.	.	ENSG00000144962	ENST00000351008	T	0.26660	1.72	6.16	6.16	0.99307	.	0.109181	0.40908	D	0.000983	T	0.40546	0.1121	L	0.32530	0.975	0.44871	D	0.997886	D	0.63046	0.992	P	0.62298	0.9	T	0.01130	-1.1442	9	.	.	.	-5.1947	20.8598	0.99761	0.0:1.0:0.0:0.0	.	501	Q9BXB7	SPT16_HUMAN	F	501	ENSP00000341765:L501F	.	L	-	3	2	SPATA16	174116801	1.000000	0.71417	0.998000	0.56505	0.184000	0.23303	3.061000	0.49963	2.937000	0.99478	0.650000	0.86243	TTG		0.408	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955	Missense_Mutation	14	898	1	0	1.3612e-06	2.31682e-05	0.000368773	14	898				
FAM183B	340286	broad.mit.edu	37	7	38725296	38725296	+	Missense_Mutation	SNP	G	G	A	rs373142679		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:38725296G>A	ENST00000409072.3	-	2	1244	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C				Q6ZVS7	F183B_HUMAN	family with sequence similarity 183, member B	104										endometrium(1)|lung(7)	8						TGGTCACGGCGTTCTGGGTCG	0.527																																						ENST00000409072.3																			0				endometrium(1)|lung(7)	8						c.(310-312)Cgc>Tgc		family with sequence similarity 183, member B		G		0,3988		0,0,1994	183.0	183.0	183.0			0.0	0.0	7		183	2,8344		0,2,4171	no	intergenic				0,2,6165	AA,AG,GG		0.024,0.0,0.0162			38725296	2,12332	1994	4173	6167	SO:0001583	missense	340286							g.chr7:38725296G>A	AK124132, BC045803		7p14.1	2008-08-11			ENSG00000164556	ENSG00000164556			34511	protein-coding gene	gene with protein product							Standard	NR_028347		Approved	LOC340286	uc011kbd.2	Q6ZVS7	OTTHUMG00000153653	ENST00000409072.3:c.310C>T	7.37:g.38725296G>A	ENSP00000386657:p.Arg104Cys						p.R104C							2	1244	-								A4D1Y1	Missense_Mutation	SNP	ENST00000409072.3	37	c.310C>T		.	.	.	.	.	.	.	.	.	.	G	10.13	1.264836	0.23136	0.0	2.4E-4	ENSG00000164556	ENST00000409072	.	.	.	0.962	0.0343	0.14183	.	0.163918	0.38720	N	0.001598	T	0.34803	0.0910	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.26503	-1.0101	6	0.72032	D	0.01	.	3.2511	0.06815	0.3098:0.0:0.6902:0.0	.	.	.	.	C	104	.	ENSP00000386657:R104C	R	-	1	0	FAM183B	38691821	0.002000	0.14202	0.005000	0.12908	0.002000	0.02628	-0.238000	0.08977	-0.019000	0.14055	-0.251000	0.11542	CGC		0.527	FAM183B-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331972.1	NM_001105282		251	662	0	0	0	2.47226e-05	0	251	662				
ZNF845	91664	broad.mit.edu	37	19	53855012	53855012	+	Missense_Mutation	SNP	A	A	G			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:53855012A>G	ENST00000595091.1	+	5	1303	c.1084A>G	c.(1084-1086)Aaa>Gaa	p.K362E	ZNF845_ENST00000458035.1_Missense_Mutation_p.K362E			Q96IR2	ZN845_HUMAN	zinc finger protein 845	362					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AGAATGTGACAAAGCTTTCAG	0.388																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1084-1086)Aaa>Gaa		zinc finger protein 845							34.0	32.0	33.0					19																	53855012		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855012A>G	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1084A>G	19.37:g.53855012A>G	ENSP00000470005:p.Lys362Glu					ZNF845_ENST00000595091.1_Missense_Mutation_p.K362E	p.K362E	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1201	+			362						Missense_Mutation	SNP	ENST00000595091.1	37	c.1084A>G	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.932463	0.73442	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.07567	3.18	2.05	2.05	0.26809	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22360	0.0539	M	0.74258	2.255	0.09310	N	1	D	0.63046	0.992	P	0.60473	0.875	T	0.03095	-1.1073	9	0.87932	D	0	.	8.8227	0.35036	1.0:0.0:0.0:0.0	.	362	Q96IR2	ZN845_HUMAN	E	362	ENSP00000388311:K362E	ENSP00000412086:K362E	K	+	1	0	ZNF845	58546824	0.756000	0.28383	0.001000	0.08648	0.920000	0.55202	3.376000	0.52417	0.932000	0.37266	0.172000	0.16884	AAA		0.388	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		7	334	0	0	0	5.18039e-06	0	7	334				
STS	412	broad.mit.edu	37	X	7268006	7268006	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chrX:7268006G>A	ENST00000217961.4	+	10	1676	c.1456G>A	c.(1456-1458)Gtg>Atg	p.V486M		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	486					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	TGCCACACACGTGTGCTTCTG	0.488									Ichthyosis																													ENST00000217961.4																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27						c.(1456-1458)Gtg>Atg		steroid sulfatase (microsomal), isozyme S	Estrone(DB00655)						111.0	97.0	102.0					X																	7268006		2203	4299	6502	SO:0001583	missense	412	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity	g.chrX:7268006G>A	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"""Arylsulfatase family"""	11425	protein-coding gene	gene with protein product	"""arylsulfatase C"""	300747	"""steroid sulfatase (microsomal), arylsulfatase C, isozyme S"""	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.1456G>A	X.37:g.7268006G>A	ENSP00000217961:p.Val486Met						p.V486M	NM_000351.4	NP_000342.2	P08842	STS_HUMAN			10	1676	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	486					B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	c.1456G>A	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928468	0.34002	.	.	ENSG00000101846	ENST00000217961	D	0.91068	-2.78	4.22	4.22	0.49857	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.186047	0.33023	N	0.005369	D	0.91432	0.7296	M	0.85630	2.765	0.35164	D	0.770921	P	0.51147	0.942	B	0.43301	0.415	D	0.94820	0.7986	10	0.49607	T	0.09	.	14.6151	0.68541	0.0:0.0:1.0:0.0	.	486	P08842	STS_HUMAN	M	486	ENSP00000217961:V486M	ENSP00000217961:V486M	V	+	1	0	STS	7278006	0.997000	0.39634	0.494000	0.27515	0.029000	0.11900	2.447000	0.44917	1.720000	0.51447	0.600000	0.82982	GTG		0.488	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	NM_000351		50	263	0	0	0	2.47226e-05	0	50	263				
OR2T4	127074	broad.mit.edu	37	1	248524891	248524891	+	Silent	SNP	C	C	T	rs200949727		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:248524891C>T	ENST00000366475.1	+	1	9	c.9C>T	c.(7-9)aaC>aaT	p.N3N		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCATGGACAACATCACCTGGA	0.468													c|||	1	0.000199681	0.0	0.0014	5008	,	,		19293	0.0		0.0	False		,,,				2504	0.0					ENST00000366475.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(7-9)aaC>aaT		olfactory receptor, family 2, subfamily T, member 4							71.0	68.0	69.0					1																	248524891		2203	4300	6503	SO:0001819	synonymous_variant	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248524891C>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.9C>T	1.37:g.248524891C>T							p.N3N	NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	9	+	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)		3					Q6IEZ8	Silent	SNP	ENST00000366475.1	37	c.9C>T	CCDS31113.1																																																																																				0.468	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		41	283	0	0	0	1.13552e-05	0	41	283				
ZNF471	57573	broad.mit.edu	37	19	57035792	57035792	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:57035792C>A	ENST00000308031.5	+	5	489	c.356C>A	c.(355-357)tCc>tAc	p.S119Y	ZNF471_ENST00000591537.1_Intron|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	119					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S119F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		CTTGAGTGTTCCACTTTTGAA	0.378																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	ENST00000308031.5																			1	Substitution - Missense(1)	p.S119F(1)	lung(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(355-357)tCc>tAc		zinc finger protein 471							86.0	82.0	83.0					19																	57035792		2203	4300	6503	SO:0001583	missense	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57035792C>A	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.356C>A	19.37:g.57035792C>A	ENSP00000309161:p.Ser119Tyr					ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Intron	p.S119Y	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	5	489	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	119					B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	c.356C>A	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	C	8.530	0.870742	0.17322	.	.	ENSG00000196263	ENST00000308031	T	0.06687	3.27	3.95	1.61	0.23674	.	.	.	.	.	T	0.08358	0.0208	L	0.57536	1.79	0.09310	N	1	P	0.52842	0.956	P	0.44732	0.459	T	0.07233	-1.0783	9	0.02654	T	1	.	7.3183	0.26513	0.0:0.5848:0.3213:0.094	.	119	Q9BX82	ZN471_HUMAN	Y	119	ENSP00000309161:S119Y	ENSP00000309161:S119Y	S	+	2	0	ZNF471	61727604	0.002000	0.14202	0.005000	0.12908	0.940000	0.58332	0.172000	0.16704	0.378000	0.24764	0.563000	0.77884	TCC		0.378	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		8	445	1	0	2.17888e-05	2.17888e-05	0.00444706	8	445				
PROZ	8858	broad.mit.edu	37	13	113826319	113826319	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr13:113826319C>T	ENST00000375547.2	+	8	1110	c.1103C>T	c.(1102-1104)aCg>aTg	p.T368M	PROZ_ENST00000342783.4_Missense_Mutation_p.T390M	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	368	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	TGGTTTCTCACGGGGGTCCTG	0.562																																						ENST00000342783.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16						c.(1168-1170)aCg>aTg		protein Z, vitamin K-dependent plasma glycoprotein	Menadione(DB00170)						36.0	34.0	35.0					13																	113826319		2203	4298	6501	SO:0001583	missense	8858				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity	g.chr13:113826319C>T	M55670	CCDS9531.1, CCDS58300.1	13q34	2008-07-18			ENSG00000126231	ENSG00000126231			9460	protein-coding gene	gene with protein product		176895				2244898, 2403355	Standard	NM_001256134		Approved	PZ	uc010agr.2	P22891	OTTHUMG00000017376	ENST00000375547.2:c.1103C>T	13.37:g.113826319C>T	ENSP00000364697:p.Thr368Met					PROZ_ENST00000375547.2_Missense_Mutation_p.T368M	p.T390M	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	all cancers(43;0.104)		9	1176	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	368			Peptidase S1.		A6NMB4|Q15213|Q5JVF5|Q5JVF6	Missense_Mutation	SNP	ENST00000375547.2	37	c.1169C>T	CCDS9531.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.282979	0.23392	.	.	ENSG00000126231	ENST00000375547;ENST00000342783	D;D	0.89050	-2.46;-2.46	3.96	2.78	0.32641	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.303944	0.34986	N	0.003522	D	0.91720	0.7382	M	0.68593	2.085	0.39311	D	0.965077	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.91267	0.5041	10	0.87932	D	0	.	6.4669	0.21987	0.0:0.6801:0.1745:0.1454	.	390;368	P22891-2;P22891	.;PROZ_HUMAN	M	368;390	ENSP00000364697:T368M;ENSP00000344458:T390M	ENSP00000344458:T390M	T	+	2	0	PROZ	112874320	0.916000	0.31088	0.503000	0.27626	0.030000	0.12068	1.723000	0.38053	1.891000	0.54761	0.313000	0.20887	ACG		0.562	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045845.1	NM_003891		54	220	0	0	0	2.47226e-05	0	54	220				
DENND1A	57706	broad.mit.edu	37	9	126146178	126146178	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:126146178C>A	ENST00000373624.2	-	21	1793	c.1592G>T	c.(1591-1593)cGg>cTg	p.R531L	DENND1A_ENST00000394219.3_Missense_Mutation_p.R542L|DENND1A_ENST00000542603.1_Missense_Mutation_p.R316L|DENND1A_ENST00000473039.1_5'UTR	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	531					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CCTGAGTGTCCGATACGGCTG	0.662																																						ENST00000373624.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(1591-1593)cGg>cTg		DENN/MADD domain containing 1A							60.0	60.0	60.0					9																	126146178		2203	4300	6503	SO:0001583	missense	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126146178C>A	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1592G>T	9.37:g.126146178C>A	ENSP00000362727:p.Arg531Leu					DENND1A_ENST00000394219.3_Missense_Mutation_p.R542L|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000542603.1_Missense_Mutation_p.R316L	p.R531L	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN			21	1793	-			531					A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	c.1592G>T	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.290799	0.40494	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219	T;T;T	0.30714	3.13;1.52;2.83	4.89	4.89	0.63831	.	0.188343	0.45361	D	0.000366	T	0.51822	0.1697	M	0.72118	2.19	0.80722	D	1	P;P;P;D	0.65815	0.738;0.612;0.478;0.995	B;B;B;P	0.59357	0.38;0.253;0.129;0.856	T	0.52373	-0.8584	10	0.41790	T	0.15	-6.3349	18.1242	0.89581	0.0:1.0:0.0:0.0	.	542;532;531;394	Q8TEH3-6;Q8TEH3-7;Q8TEH3;Q9HCG4	.;.;DEN1A_HUMAN;.	L	531;316;542	ENSP00000362727:R531L;ENSP00000437457:R316L;ENSP00000377766:R542L	ENSP00000362727:R531L	R	-	2	0	DENND1A	125185999	1.000000	0.71417	0.972000	0.41901	0.158000	0.22134	1.211000	0.32382	2.265000	0.75225	0.555000	0.69702	CGG		0.662	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		8	455	1	0	1.12685e-05	1.12685e-05	0.00245395	8	455				
PER3	8863	broad.mit.edu	37	1	7887545	7887545	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:7887545G>T	ENST00000361923.2	+	17	2707	c.2532G>T	c.(2530-2532)ttG>ttT	p.L844F	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000377532.3_Missense_Mutation_p.L852F	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	844	Pro-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.L844F(1)		breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TTCCTTACTTGGATACTTTTA	0.567																																						ENST00000377532.3																			1	Substitution - Missense(1)	p.L844F(1)	lung(1)	breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39						c.(2554-2556)ttG>ttT		period circadian clock 3							174.0	170.0	171.0					1																	7887545		2203	4300	6503	SO:0001583	missense	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7887545G>T	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2532G>T	1.37:g.7887545G>T	ENSP00000355031:p.Leu844Phe					PER3_ENST00000361923.2_Missense_Mutation_p.L844F	p.L852F			P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	17	2780	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	844			Pro-rich.		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	c.2556G>T	CCDS89.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104242	0.37145	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.10668	2.85;2.85	4.2	1.02	0.19986	.	2.753630	0.02126	N	0.056017	T	0.11196	0.0273	L	0.41492	1.28	0.09310	N	1	B;B;B;B	0.19583	0.037;0.021;0.036;0.037	B;B;B;B	0.19391	0.008;0.011;0.025;0.008	T	0.31223	-0.9951	10	0.36615	T	0.2	.	6.0045	0.19539	0.2296:0.1546:0.6158:0.0	.	844;852;852;844	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	F	852;844;55	ENSP00000366755:L852F;ENSP00000355031:L844F	ENSP00000355031:L844F	L	+	3	2	PER3	7810132	0.000000	0.05858	0.000000	0.03702	0.285000	0.27093	0.087000	0.14958	0.021000	0.15133	0.555000	0.69702	TTG		0.567	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		13	937	1	0	1.05317e-09	1.49906e-05	3.1956e-07	13	937				
TBC1D3P2	440452	broad.mit.edu	37	17	60342197	60342197	+	RNA	SNP	T	T	C			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:60342197T>C	ENST00000581291.1	-	0	1956									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						TGGGAGGGGCTGGGCATGGTT	0.488																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														0							g.chr17:60342197T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342197T>C														0	1956	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.488	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		4	60	0	0	0	2.56e-06	0	4	60				
PRB3	5544	broad.mit.edu	37	12	11420496	11420496	+	Silent	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:11420496G>A	ENST00000279573.7	-	3	822	c.687C>T	c.(685-687)ccC>ccT	p.P229P	PRB3_ENST00000538488.1_Intron|PRB3_ENST00000381842.3_Intron|PRB3_ENST00000440870.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	229	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTCCTTGTGGGGGTGGTCCTT	0.632																																						ENST00000381842.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25								proline-rich protein BstNI subfamily 3							75.0	12.0	35.0					12																	11420496		1758	3173	4931	SO:0001819	synonymous_variant	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420496G>A			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.687C>T	12.37:g.11420496G>A						PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA		NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		0	642	-								Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	RNA	SNP	ENST00000279573.7	37																																																																																						0.632	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		8	147	0	0	0	2.31682e-05	0	8	147				
TRIP12	9320	broad.mit.edu	37	2	230670536	230670536	+	Intron	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:230670536C>A	ENST00000283943.5	-	17	2531				TRIP12_ENST00000389044.4_Intron|TRIP12_ENST00000389045.3_Missense_Mutation_p.D509Y|TRIP12_ENST00000543084.1_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12						cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GAATTAAAATCAATAGTATAA	0.418																																						ENST00000389045.3																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(1525-1527)Gat>Tat		thyroid hormone receptor interactor 12							116.0	107.0	110.0					2																	230670536		2203	4300	6503	SO:0001627	intron_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230670536C>A	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.2353-18G>T	2.37:g.230670536C>A						TRIP12_ENST00000389044.4_Intron|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000283943.5_Intron	p.D509Y			Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	15	1597	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	784					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.1525G>T	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707470	0.89018	.	.	ENSG00000153827	ENST00000389045	T	0.57273	0.41	5.77	5.77	0.91146	.	.	.	.	.	T	0.74129	0.3676	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73748	-0.3885	7	.	.	.	.	18.2216	0.89903	0.0:1.0:0.0:0.0	.	509	Q14CF1	.	Y	509	ENSP00000373697:D509Y	.	D	-	1	0	TRIP12	230378780	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.786000	0.85741	2.729000	0.93468	0.644000	0.83932	GAT		0.418	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		8	270	1	0	3.86212e-05	3.86212e-05	0.00711662	8	270				
ZCCHC14	23174	broad.mit.edu	37	16	87525409	87525409	+	Missense_Mutation	SNP	T	T	A	rs146149024		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr16:87525409T>A	ENST00000268616.4	-	1	242	c.25A>T	c.(25-27)Agc>Tgc	p.S9C	RP11-482M8.1_ENST00000565824.1_lincRNA	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	9							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TGGTGGAAGCTGAAGGCCGGG	0.682																																						ENST00000268616.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(25-27)Agc>Tgc		zinc finger, CCHC domain containing 14							26.0	28.0	27.0					16																	87525409		2195	4295	6490	SO:0001583	missense	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87525409T>A	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.25A>T	16.37:g.87525409T>A	ENSP00000268616:p.Ser9Cys						p.S9C	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	1	242	-			9					D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	c.25A>T	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	t	13.51	2.259844	0.39995	.	.	ENSG00000140948	ENST00000268616	T	0.24350	1.86	3.44	2.29	0.28610	.	0.198971	0.39687	U	0.001289	T	0.28433	0.0703	M	0.68593	2.085	0.34508	D	0.706838	D	0.55172	0.97	B	0.44044	0.439	T	0.47674	-0.9099	10	0.87932	D	0	-10.1948	9.746	0.40446	0.0:0.0:0.1749:0.8251	.	9	Q8WYQ9	ZCH14_HUMAN	C	9	ENSP00000268616:S9C	ENSP00000268616:S9C	S	-	1	0	ZCCHC14	86082910	1.000000	0.71417	0.986000	0.45419	0.002000	0.02628	4.552000	0.60747	0.316000	0.23135	-0.646000	0.03943	AGC		0.682	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		4	112	0	0	0	3.59834e-05	0	4	112				
DNAH1	25981	broad.mit.edu	37	3	52398935	52398935	+	Silent	SNP	C	C	A	rs199597694		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:52398935C>A	ENST00000420323.2	+	34	5679	c.5418C>A	c.(5416-5418)tcC>tcA	p.S1806S		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1806					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCATCGTGTCCGACCTGTTTC	0.607																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(5416-5418)tcC>tcA		dynein, axonemal, heavy chain 1							83.0	89.0	87.0					3																	52398935		2158	4256	6414	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52398935C>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5418C>A	3.37:g.52398935C>A							p.S1806S	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	34	5679	+			1806					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.5418C>A	CCDS46842.1																																																																																				0.607	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		11	363	1	0	9.31168e-06	9.31168e-06	0.00207751	11	363				
HMGCR	3156	broad.mit.edu	37	5	74643116	74643116	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:74643116G>A	ENST00000287936.4	+	6	694	c.538G>A	c.(538-540)Gga>Aga	p.G180R	HMGCR_ENST00000511206.1_Missense_Mutation_p.G180R|HMGCR_ENST00000343975.5_Missense_Mutation_p.G180R	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	180	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TCTTGTGATTGGAGTTGGTAC	0.353																																						ENST00000287936.4																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20						c.(538-540)Gga>Aga		3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)						301.0	275.0	284.0					5																	74643116		2203	4300	6503	SO:0001583	missense	3156				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	g.chr5:74643116G>A		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"""hydroxymethylglutaryl-CoA reductase"", ""3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"""	142910	"""3-hydroxy-3-methylglutaryl-Coenzyme A reductase"""				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.538G>A	5.37:g.74643116G>A	ENSP00000287936:p.Gly180Arg					HMGCR_ENST00000343975.5_Missense_Mutation_p.G180R|HMGCR_ENST00000511206.1_Missense_Mutation_p.G180R	p.G180R	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	6	694	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	180					B7Z3Y9|Q8N190	Missense_Mutation	SNP	ENST00000287936.4	37	c.538G>A	CCDS4027.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021820	0.93462	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975	D;D;D	0.91945	-2.94;-2.94;-2.94	5.33	5.33	0.75918	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.95868	0.8655	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	D	0.95438	0.8523	10	0.46703	T	0.11	-22.7867	18.6124	0.91290	0.0:0.0:1.0:0.0	.	180;180;180;180	B2R649;A8KA27;P04035-2;P04035	.;.;.;HMDH_HUMAN	R	180;111;180;180	ENSP00000426745:G180R;ENSP00000287936:G180R;ENSP00000340816:G180R	ENSP00000287936:G180R	G	+	1	0	HMGCR	74678872	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.767000	0.98960	2.459000	0.83118	0.650000	0.86243	GGA		0.353	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2			8	811	0	0	0	2.0095e-06	0	8	811				
PCDHA11	56138	broad.mit.edu	37	5	140250312	140250312	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:140250312C>T	ENST00000398640.2	+	1	1624	c.1624C>T	c.(1624-1626)Ccg>Tcg	p.P542S	PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	542	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGGCGTGCCGCCTCTGAG	0.692																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1624-1626)Ccg>Tcg									73.0	81.0	78.0					5																	140250312		2202	4298	6500	SO:0001583	missense	0							g.chr5:140250312C>T	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1624C>T	5.37:g.140250312C>T	ENSP00000381636:p.Pro542Ser					PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron	p.P542S	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1624	+								B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1624C>T	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.788483	0.70337	.	.	ENSG00000249158	ENST00000398640	T	0.56776	0.44	5.15	5.15	0.70609	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.78698	0.4324	M	0.92026	3.265	0.35643	D	0.811176	D;D	0.89917	1.0;1.0	D;D	0.71414	0.969;0.973	D	0.87476	0.2417	9	0.87932	D	0	.	18.2779	0.90089	0.0:1.0:0.0:0.0	.	542;542	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	S	542	ENSP00000381636:P542S	ENSP00000381636:P542S	P	+	1	0	PCDHA11	140230496	0.999000	0.42202	0.994000	0.49952	0.949000	0.60115	5.585000	0.67497	2.398000	0.81561	0.556000	0.70494	CCG		0.692	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		7	727	0	0	0	2.0095e-06	0	7	727				
FAM214A	56204	broad.mit.edu	37	15	52879377	52879377	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr15:52879377G>T	ENST00000261844.7	-	11	3000	c.2848C>A	c.(2848-2850)Cga>Aga	p.R950R	RP11-23N2.4_ENST00000562062.1_RNA|RP11-23N2.4_ENST00000566344.1_RNA|FAM214A_ENST00000546305.2_Silent_p.R957R	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	950																	GGAGGTACTCGATAACCCCTT	0.348																																						ENST00000261844.7																			0											c.(2848-2850)Cga>Aga		family with sequence similarity 214, member A							142.0	131.0	134.0					15																	52879377		1841	4084	5925	SO:0001819	synonymous_variant	56204							g.chr15:52879377G>T	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.2848C>A	15.37:g.52879377G>T						FAM214A_ENST00000546305.2_Silent_p.R957R|RP11-23N2.4_ENST00000562062.1_RNA|RP11-23N2.4_ENST00000566344.1_RNA	p.R950R	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN			11	3000	-			950					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Silent	SNP	ENST00000261844.7	37	c.2848C>A	CCDS45263.1																																																																																				0.348	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		8	458	1	0	5.50884e-06	5.50884e-06	0.00130912	8	458				
USP5	8078	broad.mit.edu	37	12	6970156	6970156	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:6970156C>A	ENST00000229268.8	+	12	1436	c.1384C>A	c.(1384-1386)Cgc>Agc	p.R462S	USP5_ENST00000389231.5_Missense_Mutation_p.R462S|USP5_ENST00000541969.1_3'UTR	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	462	USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)	p.R462S(2)|p.R462C(1)		breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						TGAAGTGTTCCGCTTCTTGGT	0.537																																						ENST00000229268.8																			3	Substitution - Missense(3)	p.R462S(2)|p.R462C(1)	lung(2)|large_intestine(1)	breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						c.(1384-1386)Cgc>Agc		ubiquitin specific peptidase 5 (isopeptidase T)							194.0	197.0	196.0					12																	6970156		2203	4300	6503	SO:0001583	missense	0				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr12:6970156C>A	U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.1384C>A	12.37:g.6970156C>A	ENSP00000229268:p.Arg462Ser					USP5_ENST00000541969.1_3'UTR|USP5_ENST00000389231.5_Missense_Mutation_p.R462S	p.R462S	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN			12	1436	+			462					D3DUS7|D3DUS8|Q96J22	Missense_Mutation	SNP	ENST00000229268.8	37	c.1384C>A	CCDS41743.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246490	0.80024	.	.	ENSG00000111667	ENST00000229268;ENST00000389231	T;T	0.30714	1.52;1.52	5.14	5.14	0.70334	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.55513	0.1925	M	0.65677	2.01	0.80722	D	1	D;P	0.89917	1.0;0.593	D;B	0.97110	1.0;0.343	T	0.52064	-0.8625	10	0.42905	T	0.14	-5.2531	18.7977	0.92001	0.0:1.0:0.0:0.0	.	462;462	P45974;P45974-2	UBP5_HUMAN;.	S	462	ENSP00000229268:R462S;ENSP00000373883:R462S	ENSP00000229268:R462S	R	+	1	0	USP5	6840417	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.746000	0.55127	2.666000	0.90696	0.561000	0.74099	CGC		0.537	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1			13	1274	1	0	4.68919e-08	3.86212e-05	1.38587e-05	13	1274				
C8orf34	116328	broad.mit.edu	37	8	69552683	69552683	+	Missense_Mutation	SNP	G	G	A	rs548341726		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr8:69552683G>A	ENST00000539993.1	+	8	1469	c.920G>A	c.(919-921)cGt>cAt	p.R307H	C8orf34_ENST00000337103.4_Missense_Mutation_p.R282H|C8orf34_ENST00000325233.3_Missense_Mutation_p.R51H|C8orf34_ENST00000518698.1_Missense_Mutation_p.R393H			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	307										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AACCAAGGCCGTCCTACTTAC	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		16058	0.001		0.0	False		,,,				2504	0.0					ENST00000337103.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(844-846)cGt>cAt		chromosome 8 open reading frame 34							98.0	90.0	92.0					8																	69552683		2203	4300	6503	SO:0001583	missense	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69552683G>A	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.920G>A	8.37:g.69552683G>A	ENSP00000438159:p.Arg307His					C8orf34_ENST00000539993.1_Missense_Mutation_p.R307H|C8orf34_ENST00000518698.1_Missense_Mutation_p.R393H|C8orf34_ENST00000325233.3_Missense_Mutation_p.R51H	p.R282H			Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		7	2437	+			307					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37	c.845G>A		.	.	.	.	.	.	.	.	.	.	G	26.0	4.691944	0.88735	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000337103;ENST00000325233	T;T;T;T	0.63913	0.66;0.71;0.7;-0.07	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.77157	0.4089	L	0.56769	1.78	0.52099	D	0.999942	D	0.89917	1.0	D	0.83275	0.996	T	0.75158	-0.3416	9	.	.	.	-10.9267	19.3134	0.94202	0.0:0.0:1.0:0.0	.	307	Q49A92	CH034_HUMAN	H	393;307;282;51	ENSP00000427820:R393H;ENSP00000438159:R307H;ENSP00000337174:R282H;ENSP00000319532:R51H	.	R	+	2	0	C8orf34	69715237	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.376000	0.97181	2.567000	0.86603	0.585000	0.79938	CGT		0.413	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		39	462	0	0	0	6.26518e-05	0	39	462				
HRNR	388697	broad.mit.edu	37	1	152187633	152187633	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:152187633G>T	ENST00000368801.2	-	3	6547	c.6472C>A	c.(6472-6474)Cgc>Agc	p.R2158S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2158					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCATAGCGGGAAGACGAA	0.617																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(6472-6474)Cgc>Agc		hornerin							344.0	387.0	373.0					1																	152187633		2199	4280	6479	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187633G>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6472C>A	1.37:g.152187633G>T	ENSP00000357791:p.Arg2158Ser					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R2158S	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6547	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2158					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.6472C>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	5.670	0.308182	0.10733	.	.	ENSG00000197915	ENST00000368801	T	0.02656	4.21	3.54	-4.02	0.04034	.	.	.	.	.	T	0.00300	0.0009	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42882	-0.9425	9	0.07482	T	0.82	.	6.7913	0.23701	0.0:0.4926:0.1584:0.349	.	2158	Q86YZ3	HORN_HUMAN	S	2158	ENSP00000357791:R2158S	ENSP00000357791:R2158S	R	-	1	0	HRNR	150454257	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.367000	0.01078	-0.998000	0.03446	-2.058000	0.00401	CGC		0.617	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		38	6391	1	0	2.0095e-06	2.0095e-06	0.000531746	38	6391				
GABRB1	2560	broad.mit.edu	37	4	47033985	47033985	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:47033985C>A	ENST00000295454.3	+	2	427	c.135C>A	c.(133-135)ctC>ctA	p.L45L	GABRB1_ENST00000538619.1_5'UTR|GABRB1_ENST00000509366.1_3'UTR	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	45					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					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)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|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)	ACAGATTGCTCAAAGGATATG	0.443																																						ENST00000295454.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(133-135)ctC>ctA		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						195.0	192.0	193.0					4																	47033985		2203	4300	6503	SO:0001819	synonymous_variant	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47033985C>A		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.135C>A	4.37:g.47033985C>A						GABRB1_ENST00000509366.1_3'UTR|GABRB1_ENST00000538619.1_5'UTR	p.L45L	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			2	427	+			45					B2R6U7|D6REL3|Q16166|Q8TBK3	Silent	SNP	ENST00000295454.3	37	c.135C>A	CCDS3474.1																																																																																				0.443	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			14	787	1	0	3.52763e-06	5.01169e-05	0.000896964	14	787				
RABGGTA	5875	broad.mit.edu	37	14	24737795	24737795	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr14:24737795C>A	ENST00000399409.3	-	9	1414	c.931G>T	c.(931-933)Gac>Tac	p.D311Y	RABGGTA_ENST00000559586.1_5'Flank|RABGGTA_ENST00000216840.6_Missense_Mutation_p.D311Y|RABGGTA_ENST00000560777.1_Intron	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	311					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GGCAACTGGTCGTTGAGGGAG	0.557																																						ENST00000399409.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12						c.(931-933)Gac>Tac		Rab geranylgeranyltransferase, alpha subunit							91.0	96.0	94.0					14																	24737795		2073	4208	6281	SO:0001583	missense	5875				visual perception		Rab geranylgeranyltransferase activity|zinc ion binding	g.chr14:24737795C>A		CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"""Prenyltransferase alpha subunit repeat containing"""	9795	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 3"""	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.931G>T	14.37:g.24737795C>A	ENSP00000382341:p.Asp311Tyr					RABGGTA_ENST00000560777.1_Intron|RABGGTA_ENST00000216840.6_Missense_Mutation_p.D311Y	p.D311Y	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	9	1414	-			311					A8K5N2|D3DS69	Missense_Mutation	SNP	ENST00000399409.3	37	c.931G>T	CCDS45088.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269476	0.40095	.	.	ENSG00000100949	ENST00000216840;ENST00000399409;ENST00000543002	T;T	0.52057	0.68;0.68	5.11	4.22	0.49857	Rab geranylgeranyltransferase, alpha subunit, insert-domain (4);	0.000000	0.85682	D	0.000000	T	0.61489	0.2351	L	0.55481	1.735	0.80722	D	1	D	0.76494	0.999	D	0.69654	0.965	T	0.63804	-0.6554	10	0.59425	D	0.04	-24.6605	13.0558	0.58980	0.0:0.9196:0.0:0.0804	.	311	Q92696	PGTA_HUMAN	Y	311;311;274	ENSP00000216840:D311Y;ENSP00000382341:D311Y	ENSP00000216840:D311Y	D	-	1	0	RABGGTA	23807635	1.000000	0.71417	1.000000	0.80357	0.278000	0.26855	4.232000	0.58645	1.292000	0.44672	-0.448000	0.05591	GAC		0.557	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415308.5	NM_182836		12	478	1	0	3.45872e-05	3.45872e-05	0.00669873	12	478				
IGLV2-11	28816	broad.mit.edu	37	22	23135323	23135323	+	RNA	SNP	G	G	A	rs546965481	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:23135323G>A	ENST00000390314.2	+	0	227				D86998.1_ENST00000385098.1_RNA					immunoglobulin lambda variable 2-11																		CAGCACCCAGGCAAAGCCCCC	0.557																																						ENST00000390314.2																			0																				280.0	267.0	271.0					22																	23135323		1965	4143	6108			0							g.chr22:23135323G>A	Z73657		22q11.2	2012-02-08			ENSG00000211668	ENSG00000211668		"""Immunoglobulins / IGL locus"""	5887	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151236		22.37:g.23135323G>A														0	227	+									RNA	SNP	ENST00000390314.2	37																																																																																						0.557	IGLV2-11-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321841.1	NG_000002		118	1396	0	0	0	2.47226e-05	0	118	1396				
EEF1A2	1917	broad.mit.edu	37	20	62120282	62120282	+	Missense_Mutation	SNP	T	T	G	rs200931909		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr20:62120282T>G	ENST00000298049.7	-	6	1323	c.1253A>C	c.(1252-1254)tAc>tCc	p.Y418S	EEF1A2_ENST00000217182.3_Missense_Mutation_p.Y418S			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	418					positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)	p.Y418S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GAGAGGCGGGTACTGGGAGAA	0.667																																						ENST00000217182.3																			1	Substitution - Missense(1)	p.Y418S(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20						c.(1252-1254)tAc>tCc		eukaryotic translation elongation factor 1 alpha 2							28.0	29.0	29.0					20																	62120282		2189	4283	6472	SO:0001583	missense	1917					nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr20:62120282T>G	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"""statin-like"", ""statin"""	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.1253A>C	20.37:g.62120282T>G	ENSP00000298049:p.Tyr418Ser					EEF1A2_ENST00000298049.7_Missense_Mutation_p.Y418S	p.Y418S	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		7	1418	-	all_cancers(38;9.45e-12)		418					B5BUF3|E1P5J1|P54266|Q0VGC7	Missense_Mutation	SNP	ENST00000298049.7	37	c.1253A>C	CCDS13522.1	.	.	.	.	.	.	.	.	.	.	T	17.94	3.511359	0.64522	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	T;T	0.44881	0.91;0.91	3.12	3.12	0.35913	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.170048	0.39759	N	0.001263	T	0.74405	0.3712	H	0.96142	3.775	0.80722	D	1	P	0.39696	0.683	D	0.68039	0.955	T	0.79629	-0.1724	10	0.87932	D	0	-10.4709	11.6664	0.51376	0.0:0.0:0.0:1.0	.	418	Q05639	EF1A2_HUMAN	S	418	ENSP00000298049:Y418S;ENSP00000217182:Y418S	ENSP00000217182:Y418S	Y	-	2	0	EEF1A2	61590726	1.000000	0.71417	0.999000	0.59377	0.696000	0.40369	5.966000	0.70395	1.187000	0.43000	0.392000	0.25879	TAC		0.667	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		19	122	0	0	0	1.8613e-05	0	19	122				
OBSCN	84033	broad.mit.edu	37	1	228432014	228432014	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:228432014G>T	ENST00000422127.1	+	11	3267	c.3223G>T	c.(3223-3225)Gca>Tca	p.A1075S	OBSCN_ENST00000570156.2_Missense_Mutation_p.A1167S|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1075S	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1075	Ig-like 11.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GATGATGTTTGCAAAGGAGCA	0.572																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(3499-3501)Gca>Tca		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							97.0	93.0	94.0					1																	228432014		2033	4185	6218	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228432014G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3223G>T	1.37:g.228432014G>T	ENSP00000409493:p.Ala1075Ser					OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.A1075S|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1075S	p.A1167S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			12	3573	+		Prostate(94;0.0405)	105			Ig-like 12.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.3499G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	2.395	-0.338872	0.05243	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.04551	3.6;3.6	3.69	2.78	0.32641	Immunoglobulin-like (1);	0.317255	0.27060	N	0.021125	T	0.04363	0.0120	L	0.39147	1.195	0.80722	D	1	P;B	0.37985	0.613;0.169	B;B	0.41466	0.358;0.049	T	0.40664	-0.9551	10	0.06891	T	0.86	.	6.4866	0.22093	0.3275:0.0:0.6725:0.0	.	1075;1075	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	S	1075	ENSP00000284548:A1075S;ENSP00000409493:A1075S	ENSP00000284548:A1075S	A	+	1	0	OBSCN	226498637	0.000000	0.05858	0.991000	0.47740	0.025000	0.11179	-0.621000	0.05559	0.757000	0.33036	0.455000	0.32223	GCA		0.572	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		42	428	1	0	1.23713e-20	2.47226e-05	3.83039e-18	42	428				
THUMPD3	25917	broad.mit.edu	37	3	9416208	9416208	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:9416208G>T	ENST00000345094.3	+	5	1150	c.816G>T	c.(814-816)ttG>ttT	p.L272F	SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000515662.2_Missense_Mutation_p.L272F|THUMPD3_ENST00000452837.2_Missense_Mutation_p.L272F	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	272	THUMP. {ECO:0000255|PROSITE- ProRule:PRU00529}.					cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		AGGTTCTTTTGAACATCCATG	0.393																																						ENST00000345094.3																			0				NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19						c.(814-816)ttG>ttT		THUMP domain containing 3							160.0	150.0	153.0					3																	9416208		2203	4300	6503	SO:0001583	missense	25917						methyltransferase activity|protein binding|RNA binding	g.chr3:9416208G>T	AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.816G>T	3.37:g.9416208G>T	ENSP00000339532:p.Leu272Phe					SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000452837.2_Missense_Mutation_p.L272F|THUMPD3_ENST00000515662.2_Missense_Mutation_p.L272F	p.L272F	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.101)	5	1150	+	Medulloblastoma(99;0.227)		272			THUMP.		Q9H8V6|Q9NVC1|Q9UFS3	Missense_Mutation	SNP	ENST00000345094.3	37	c.816G>T	CCDS2573.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	16.68|16.68|16.68	3.190198|3.190198|3.190198	0.58017|0.58017|0.58017	.|.|.	.|.|.	ENSG00000134077|ENSG00000134077|ENSG00000134077	ENST00000416603|ENST00000452837;ENST00000345094;ENST00000515662|ENST00000441127	.|T;T;T|.	.|0.52526|.	.|0.66;0.66;0.66|.	5.57|5.57|5.57	4.7|4.7|4.7	0.59300|0.59300|0.59300	.|THUMP (3);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	.|T|.	.|0.77624|.	.|0.4158|.	M|M|M	0.88570|0.88570|0.88570	2.965|2.965|2.965	0.58432|0.58432|0.58432	D|D|D	0.999997|0.999997|0.999997	.|D|.	.|0.76494|.	.|0.999|.	.|D|.	.|0.83275|.	.|0.996|.	.|T|.	.|0.80111|.	.|-0.1519|.	.|10|.	.|0.40728|.	.|T|.	.|0.16|.	-16.9958|-16.9958|-16.9958	10.3831|10.3831|10.3831	0.44123|0.44123|0.44123	0.0738:0.1354:0.7908:0.0|0.0738:0.1354:0.7908:0.0|0.0738:0.1354:0.7908:0.0	.|.|.	.|272|.	.|Q9BV44|.	.|THUM3_HUMAN|.	X|F|L	105|272|129	.|ENSP00000395893:L272F;ENSP00000339532:L272F;ENSP00000424064:L272F|.	.|ENSP00000339532:L272F|.	E|L|X	+|+|+	1|3|2	0|2|2	THUMPD3|THUMPD3|THUMPD3	9391208|9391208|9391208	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.698000|0.698000|0.698000	0.40448|0.40448|0.40448	1.299000|1.299000|1.299000	0.33424|0.33424|0.33424	1.347000|1.347000|1.347000	0.45714|0.45714|0.45714	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	GAA|TTG|TGA		0.393	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214127.1	NM_015453		24	670	1	0	9.93527e-08	9.21846e-06	2.88022e-05	24	670				
ZNF780A	284323	broad.mit.edu	37	19	40580552	40580552	+	Missense_Mutation	SNP	T	T	G	rs200594600		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:40580552T>G	ENST00000595687.2	-	6	2006	c.1797A>C	c.(1795-1797)caA>caC	p.Q599H	ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000450241.2_Missense_Mutation_p.Q565H|AC005614.5_ENST00000595508.1_RNA	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	599					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTCGAATAAGTTGCATATGAA	0.403																																						ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1693-1695)caA>caC		zinc finger protein 780A							144.0	142.0	143.0					19																	40580552		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580552T>G	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1797A>C	19.37:g.40580552T>G	ENSP00000472189:p.Gln599His					ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H|ZNF780A_ENST00000414720.2_Intron|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H	p.Q565H			O75290	Z780A_HUMAN			6	2006	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		599					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.1695A>C	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	t	9.527	1.109847	0.20714	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.27402	1.67;1.67	1.93	-1.27	0.09347	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19208	0.0461	N	0.02674	-0.535	0.09310	N	1	B;D	0.69078	0.387;0.997	B;D	0.65684	0.312;0.937	T	0.17715	-1.0360	9	0.08599	T	0.76	.	6.7369	0.23415	0.0:0.0:0.4738:0.5262	.	600;599	E9PB48;O75290	.;Z780A_HUMAN	H	599;600;599	ENSP00000400997:Q600H;ENSP00000341507:Q599H	ENSP00000341507:Q599H	Q	-	3	2	ZNF780A	45272392	0.000000	0.05858	0.004000	0.12327	0.653000	0.38743	-2.502000	0.00965	-0.004000	0.14419	0.260000	0.18958	CAA		0.403	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		9	874	0	0	0	5.50884e-06	0	9	874				
DDX11	1663	broad.mit.edu	37	12	31237922	31237922	+	Missense_Mutation	SNP	G	G	C			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:31237922G>C	ENST00000407793.2	+	5	751	c.500G>C	c.(499-501)aGa>aCa	p.R167T	DDX11_ENST00000545668.1_Missense_Mutation_p.R167T|DDX11_ENST00000251758.5_Missense_Mutation_p.R167T|DDX11_ENST00000350437.4_Missense_Mutation_p.R167T|DDX11_ENST00000228264.6_Missense_Mutation_p.R141T|DDX11_ENST00000542838.1_Missense_Mutation_p.R167T	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	167	Glu-rich.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.R167T(11)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GAAGAAGAAAGAGAGAATCTC	0.612										Multiple Myeloma(12;0.14)																												ENST00000251758.5																			11	Substitution - Missense(11)	p.R167T(11)	lung(6)|kidney(2)|large_intestine(1)|prostate(1)|central_nervous_system(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57						c.(499-501)aGa>aCa		DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11							18.0	20.0	19.0					12																	31237922		2203	4299	6502	SO:0001583	missense	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31237922G>C	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.500G>C	12.37:g.31237922G>C	ENSP00000384703:p.Arg167Thr	Multiple Myeloma(12;0.14)				DDX11_ENST00000545668.1_Missense_Mutation_p.R167T|DDX11_ENST00000542838.1_Missense_Mutation_p.R167T|DDX11_ENST00000407793.2_Missense_Mutation_p.R167T|DDX11_ENST00000350437.4_Missense_Mutation_p.R167T|DDX11_ENST00000228264.6_Missense_Mutation_p.R141T	p.R167T			Q96FC9	DDX11_HUMAN			5	751	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		167			Glu-rich.|Helicase ATP-binding.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.500G>C	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.810541	0.00600	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000251758;ENST00000228264;ENST00000438391;ENST00000415475;ENST00000545668;ENST00000350437	T;T;T;T;T;T;T;T	0.59224	4.17;4.17;4.17;4.17;0.28;4.17;4.17;4.17	3.87	0.233	0.15386	Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.241085	0.41938	N	0.000785	T	0.18635	0.0447	N	0.00841	-1.15	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.25779	-1.0122	10	0.12430	T	0.62	.	5.1988	0.15252	0.0:0.4995:0.1963:0.3042	.	167;167;167;167	B4DZY1;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	T	167;167;167;141;138;141;167;167	ENSP00000443426:R167T;ENSP00000384703:R167T;ENSP00000251758:R167T;ENSP00000228264:R141T;ENSP00000407646:R138T;ENSP00000406457:R141T;ENSP00000440402:R167T;ENSP00000309965:R167T	ENSP00000228264:R141T	R	+	2	0	DDX11	31129189	0.211000	0.23529	0.000000	0.03702	0.000000	0.00434	0.680000	0.25306	-0.264000	0.09365	-1.993000	0.00448	AGA		0.612	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		6	116	0	0	0	3.59834e-05	0	6	116				
FOXP2	93986	broad.mit.edu	37	7	114269973	114269973	+	Silent	SNP	A	A	G	rs576887296|rs398124272	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:114269973A>G	ENST00000393494.2	+	5	789	c.510A>G	c.(508-510)caA>caG	p.Q170Q	FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000393500.3_Silent_p.Q95Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393491.3_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_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|AC020606.1_ENST00000580664.1_RNA	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	217	0	0	0	1.23904e-05	0	5	217				
ZNF347	84671	broad.mit.edu	37	19	53644064	53644064	+	Missense_Mutation	SNP	T	T	C			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:53644064T>C	ENST00000334197.7	-	5	2085	c.2017A>G	c.(2017-2019)Aga>Gga	p.R673G	ZNF347_ENST00000452676.2_Missense_Mutation_p.R674G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.R674G	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	673					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GTATGAACTCTCCGATGTCTT	0.428																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(2020-2022)Aga>Gga		zinc finger protein 347							161.0	146.0	151.0					19																	53644064		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644064T>C	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.2017A>G	19.37:g.53644064T>C	ENSP00000334146:p.Arg673Gly					ZNF347_ENST00000334197.7_Missense_Mutation_p.R673G|ZNF347_ENST00000601469.2_Missense_Mutation_p.R674G|ZNF347_ENST00000601804.1_Intron	p.R674G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2446	-			673					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.2020A>G	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	T	9.306	1.054384	0.19907	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.02421	4.3;4.3	2.94	1.91	0.25777	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05456	0.0144	M	0.83692	2.655	0.09310	N	0.999998	B;P	0.38504	0.169;0.634	B;B	0.36418	0.034;0.224	T	0.23476	-1.0187	9	0.72032	D	0.01	.	5.9153	0.19052	0.0:0.2437:0.0:0.7563	.	674;673	G5E9N4;Q96SE7	.;ZN347_HUMAN	G	673;674	ENSP00000334146:R673G;ENSP00000405218:R674G	ENSP00000334146:R673G	R	-	1	2	ZNF347	58335876	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.856000	0.01662	0.362000	0.24319	-0.256000	0.11100	AGA		0.428	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		11	921	0	0	0	1.64113e-05	0	11	921				
UGT2B28	54490	broad.mit.edu	37	4	70152481	70152481	+	Silent	SNP	A	A	G	rs141618560	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:70152481A>G	ENST00000335568.5	+	3	884	c.882A>G	c.(880-882)gaA>gaG	p.E294E	UGT2B28_ENST00000511240.1_Silent_p.E294E	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	294					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.E294E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						AAATGGAGGAATTTGTACAGA	0.393													a|||	49	0.00978435	0.0159	0.0043	5008	,	,		10804	0.004		0.005	False		,,,				2504	0.0164					ENST00000335568.5																			1	Substitution - coding silent(1)	p.E294E(1)	kidney(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(880-882)gaA>gaG		UDP glucuronosyltransferase 2 family, polypeptide B28	Flunitrazepam(DB01544)	G	,	12,4124		0,12,2056	125.0	143.0	138.0		882,882	-1.6	0.9	4	dbSNP_134	138	9,8499		0,9,4245	no	coding-synonymous,coding-synonymous	UGT2B28	NM_001207004.1,NM_053039.1	,	0,21,6301	GG,GA,AA		0.1058,0.2901,0.1661	,	294/336,294/530	70152481	21,12623	2068	4254	6322	SO:0001819	synonymous_variant	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70152481A>G	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.882A>G	4.37:g.70152481A>G						UGT2B28_ENST00000511240.1_Silent_p.E294E	p.E294E	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN			3	884	+			294					B5BUM0|Q9BY62|Q9BY63	Silent	SNP	ENST00000335568.5	37	c.882A>G	CCDS3528.1																																																																																				0.393	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		6	966	0	0	0	5.18039e-06	0	6	966				
MLH3	27030	broad.mit.edu	37	14	75515338	75515338	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr14:75515338G>T	ENST00000556740.1	-	1	1056	c.1021C>A	c.(1021-1023)Cag>Aag	p.Q341K	MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.Q341K|MLH3_ENST00000556257.1_Missense_Mutation_p.Q341K|MLH3_ENST00000355774.2_Missense_Mutation_p.Q341K|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000544985.1_5'Flank			Q9UHC1	MLH3_HUMAN	mutL homolog 3	341					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		ACTCCTTCCTGAATGCAAAAC	0.343								Mismatch excision repair (MMR)																														ENST00000355774.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1021-1023)Cag>Aag	Mismatch excision repair (MMR)	mutL homolog 3							66.0	67.0	67.0					14																	75515338		2203	4299	6502	SO:0001583	missense	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75515338G>T	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.1021C>A	14.37:g.75515338G>T	ENSP00000452316:p.Gln341Lys					MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556740.1_Missense_Mutation_p.Q341K|MLH3_ENST00000556257.1_Missense_Mutation_p.Q341K|MLH3_ENST00000238662.7_Missense_Mutation_p.Q341K	p.Q341K	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	1236	-			341					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.1021C>A	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.552631	0.45487	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.75	4.81	0.61882	Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, C-terminal (1);	0.054424	0.64402	D	0.000001	D	0.85173	0.5636	L	0.52126	1.63	0.80722	D	1	D;D	0.56287	0.975;0.973	P;P	0.55749	0.573;0.783	D	0.85052	0.0929	10	0.49607	T	0.09	-8.2283	13.6674	0.62405	0.0:0.3268:0.6732:0.0	.	341;341	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	K	341	ENSP00000348020:Q341K;ENSP00000238662:Q341K;ENSP00000451540:Q341K;ENSP00000452316:Q341K	ENSP00000238662:Q341K	Q	-	1	0	MLH3	74585091	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.724000	0.74747	2.716000	0.92895	0.655000	0.94253	CAG		0.343	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		12	632	1	0	9.31168e-06	9.31168e-06	0.00207751	12	632				
ZNF160	90338	broad.mit.edu	37	19	53577428	53577428	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:53577428G>T	ENST00000429604.1	-	6	651	c.236C>A	c.(235-237)cCa>cAa	p.P79Q	ZNF160_ENST00000601421.1_Missense_Mutation_p.P43Q|ZNF160_ENST00000599056.1_Missense_Mutation_p.P79Q|ZNF160_ENST00000418871.1_Missense_Mutation_p.P79Q|ZNF160_ENST00000355147.5_Missense_Mutation_p.P79Q|ZNF160_ENST00000599729.1_5'Flank	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	79	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		CGGCGTTCTTGGTTTTCTTGC	0.473																																						ENST00000601421.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(127-129)cCa>cAa		zinc finger protein 160							195.0	166.0	176.0					19																	53577428		2203	4300	6503	SO:0001583	missense	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53577428G>T	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.236C>A	19.37:g.53577428G>T	ENSP00000406201:p.Pro79Gln					ZNF160_ENST00000355147.5_Missense_Mutation_p.P79Q|ZNF160_ENST00000599056.1_Missense_Mutation_p.P79Q|ZNF160_ENST00000418871.1_Missense_Mutation_p.P79Q|ZNF160_ENST00000429604.1_Missense_Mutation_p.P79Q	p.P43Q			Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	2	1004	-			79			KRAB.		Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	37	c.128C>A	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	G	8.875	0.950181	0.18431	.	.	ENSG00000170949	ENST00000429604;ENST00000418871;ENST00000355147	T;T;T	0.08102	3.13;3.13;5.47	1.96	0.634	0.17718	Krueppel-associated box (1);	.	.	.	.	T	0.09335	0.0230	L	0.56340	1.77	0.09310	N	1	B;P	0.42757	0.409;0.789	B;B	0.41135	0.184;0.348	T	0.21552	-1.0242	9	0.87932	D	0	.	5.804	0.18430	0.0:0.0:0.5984:0.4016	.	79;79	Q9BVY9;Q9HCG1	.;ZN160_HUMAN	Q	79	ENSP00000406201:P79Q;ENSP00000409597:P79Q;ENSP00000347273:P79Q	ENSP00000347273:P79Q	P	-	2	0	ZNF160	58269240	0.007000	0.16637	0.002000	0.10522	0.045000	0.14185	0.725000	0.25970	0.193000	0.20303	0.555000	0.69702	CCA		0.473	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		11	703	1	0	1.3612e-06	2.31682e-05	0.000368773	11	703				
VPS13A	23230	broad.mit.edu	37	9	79966298	79966298	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:79966298C>A	ENST00000360280.3	+	53	7615	c.7355C>A	c.(7354-7356)cCg>cAg	p.P2452Q	VPS13A_ENST00000376636.3_Missense_Mutation_p.P2413Q|VPS13A_ENST00000376634.4_Missense_Mutation_p.P2452Q|VPS13A_ENST00000357409.5_Missense_Mutation_p.P2452Q	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2452					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGGGCTGATCCGGTGGGCTCT	0.433																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(7354-7356)cCg>cAg		vacuolar protein sorting 13 homolog A (S. cerevisiae)							166.0	163.0	164.0					9																	79966298		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79966298C>A	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.7355C>A	9.37:g.79966298C>A	ENSP00000353422:p.Pro2452Gln					VPS13A_ENST00000376636.3_Missense_Mutation_p.P2413Q|VPS13A_ENST00000376634.4_Missense_Mutation_p.P2452Q|VPS13A_ENST00000357409.5_Missense_Mutation_p.P2452Q	p.P2452Q	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			53	7615	+			2452					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.7355C>A	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532140	0.85812	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.49	5.49	0.81192	Vacuolar protein sorting-associated protein (1);	0.068668	0.64402	D	0.000010	D	0.82765	0.5108	M	0.87456	2.885	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.998;0.998	D	0.85611	0.1258	10	0.87932	D	0	.	18.9616	0.92679	0.0:1.0:0.0:0.0	.	2413;2452;2452;2452	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	Q	2452;2413;2452;2452	ENSP00000365821:P2452Q;ENSP00000365823:P2413Q;ENSP00000353422:P2452Q;ENSP00000349985:P2452Q	ENSP00000349985:P2452Q	P	+	2	0	VPS13A	79156118	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	6.178000	0.71968	2.563000	0.86464	0.555000	0.69702	CCG		0.433	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		12	963	1	0	1.58986e-06	3.86212e-05	0.000423164	12	963				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		13	206	0	0	0	8.00594e-06	0	13	206				
RNF38	152006	broad.mit.edu	37	9	36339793	36339793	+	Missense_Mutation	SNP	T	T	C	rs200434728		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:36339793T>C	ENST00000259605.6	-	12	1611	c.1504A>G	c.(1504-1506)Att>Gtt	p.I502V	RNF38_ENST00000377877.4_Missense_Mutation_p.I426V|RNF38_ENST00000353739.4_Missense_Mutation_p.I452V|RNF38_ENST00000350199.4_Missense_Mutation_p.I419V|RNF38_ENST00000357058.3_Missense_Mutation_p.I419V|RNF38_ENST00000377885.2_Missense_Mutation_p.I419V	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38	502					male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			GCTCGGCAAATTGGGCAAGTA	0.378																																						ENST00000357058.3																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11						c.(1255-1257)Att>Gtt		ring finger protein 38							107.0	81.0	90.0					9																	36339793		2203	4300	6503	SO:0001583	missense	152006						zinc ion binding	g.chr9:36339793T>C		CCDS6603.1, CCDS6604.1	9p	2013-01-09			ENSG00000137075	ENSG00000137075		"""RING-type (C3HC4) zinc fingers"""	18052	protein-coding gene	gene with protein product		612488					Standard	XM_005251364		Approved		uc003zzh.3	Q9H0F5	OTTHUMG00000019905	ENST00000259605.6:c.1504A>G	9.37:g.36339793T>C	ENSP00000259605:p.Ile502Val					RNF38_ENST00000350199.4_Missense_Mutation_p.I419V|RNF38_ENST00000377885.2_Missense_Mutation_p.I419V|RNF38_ENST00000377877.4_Missense_Mutation_p.I426V|RNF38_ENST00000353739.4_Missense_Mutation_p.I452V|RNF38_ENST00000259605.6_Missense_Mutation_p.I502V	p.I419V	NM_194328.2	NP_919309.1	Q9H0F5	RNF38_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		12	1861	-			502					A6PVP9|B1AM81|B1AM82|B3KSG4|E7EVL3|Q7LB33|Q8N0Y0|Q9H748	Missense_Mutation	SNP	ENST00000259605.6	37	c.1255A>G	CCDS6603.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	14.75	2.629377	0.46944	.	.	ENSG00000137075	ENST00000259605;ENST00000353739;ENST00000377885;ENST00000357058;ENST00000350199;ENST00000377876;ENST00000377870;ENST00000377877	T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05	5.55	5.55	0.83447	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	N	0.03948	-0.315	0.80722	D	1	P;B;P	0.48911	0.917;0.124;0.904	D;B;D	0.64321	0.924;0.344;0.924	T	0.52275	-0.8597	10	0.48119	T	0.1	-7.5111	13.6403	0.62246	0.0:0.0:0.0:1.0	.	426;452;502	B1AM81;Q9H0F5-2;Q9H0F5	.;.;RNF38_HUMAN	V	502;452;419;419;419;319;426;426	ENSP00000259605:I502V;ENSP00000335239:I452V;ENSP00000367117:I419V;ENSP00000349566:I419V;ENSP00000343947:I419V;ENSP00000367109:I426V	ENSP00000259605:I502V	I	-	1	0	RNF38	36329793	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.381000	0.79718	2.096000	0.63516	0.533000	0.62120	ATT		0.378	RNF38-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052422.3	NM_022781		47	214	0	0	0	2.47226e-05	0	47	214				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		10	729	0	0	0	2.31682e-05	0	10	729				
MAGI3	260425	broad.mit.edu	37	1	114184571	114184571	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:114184571G>T	ENST00000307546.9	+	10	1474	c.1399G>T	c.(1399-1401)Ggt>Tgt	p.G467C	MAGI3_ENST00000369617.4_Missense_Mutation_p.G492C|MAGI3_ENST00000369611.4_Missense_Mutation_p.G467C|MAGI3_ENST00000369615.1_Missense_Mutation_p.G467C	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	492	Interaction with PTEN.|PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGTGTCCTCGGTCACACTCA	0.358																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(1399-1401)Ggt>Tgt		membrane associated guanylate kinase, WW and PDZ domain containing 3							171.0	152.0	158.0					1																	114184571		2203	4300	6503	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114184571G>T	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.1399G>T	1.37:g.114184571G>T	ENSP00000304604:p.Gly467Cys					MAGI3_ENST00000369617.4_Missense_Mutation_p.G492C|MAGI3_ENST00000307546.9_Missense_Mutation_p.G467C|MAGI3_ENST00000369611.4_Missense_Mutation_p.G467C	p.G467C	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	10	1461	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	492			Interaction with PTEN.|PDZ 2.		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.1399G>T	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456418	0.84317	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.83317	0.5228	H	0.98918	4.37	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89889	0.4036	10	0.87932	D	0	-28.5003	19.4992	0.95086	0.0:0.0:1.0:0.0	.	467;467;492	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	C	492;467;467;467	ENSP00000358630:G492C;ENSP00000304604:G467C;ENSP00000358628:G467C;ENSP00000358624:G467C	ENSP00000304604:G467C	G	+	1	0	MAGI3	113986094	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	9.420000	0.97426	2.689000	0.91719	0.655000	0.94253	GGT		0.358	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		11	593	1	0	5.50884e-06	5.50884e-06	0.00130912	11	593				
ZNF17	7565	broad.mit.edu	37	19	57932196	57932196	+	Missense_Mutation	SNP	A	A	G			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:57932196A>G	ENST00000601808.1	+	3	1549	c.1336A>G	c.(1336-1338)Aaa>Gaa	p.K446E	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000307658.7_Missense_Mutation_p.K448E	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	446					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		TGAATGCAACAAATGTGGGAA	0.398																																					Melanoma(149;1637 1853 29914 42869 44988)	ENST00000307658.7																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1342-1344)Aaa>Gaa		zinc finger protein 17							82.0	86.0	85.0					19																	57932196		2190	4298	6488	SO:0001583	missense	7565				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57932196A>G	X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"""Zinc fingers, C2H2-type"", ""-"""	12958	protein-coding gene	gene with protein product			"""zinc finger protein 17 (HPF3, KOX 10)"""			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.1336A>G	19.37:g.57932196A>G	ENSP00000471905:p.Lys446Glu					ZNF17_ENST00000601808.1_Missense_Mutation_p.K446E|AC004076.7_ENST00000597410.1_Intron	p.K448E			P17021	ZNF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)	4	1605	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	446					B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Missense_Mutation	SNP	ENST00000601808.1	37	c.1342A>G	CCDS42636.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.695047	0.00731	.	.	ENSG00000186272	ENST00000307658	.	.	.	2.31	-3.81	0.04294	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07143	0.0181	N	0.01134	-0.995	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.35351	-0.9792	8	0.02654	T	1	.	7.5511	0.27798	0.4538:0.0:0.5462:0.0	.	448;446	P17021-2;P17021	.;ZNF17_HUMAN	E	446	.	ENSP00000302455:K446E	K	+	1	0	ZNF17	62624008	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.412000	0.02476	-0.938000	0.03714	-0.798000	0.03219	AAA		0.398	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1	NM_006959		7	616	0	0	0	5.18039e-06	0	7	616				
MYBL2	4605	broad.mit.edu	37	20	42338663	42338663	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr20:42338663C>A	ENST00000217026.4	+	10	1693	c.1566C>A	c.(1564-1566)ttC>ttA	p.F522L	MYBL2_ENST00000396863.4_Missense_Mutation_p.F498L	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	522					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAACCCCGTTCAAGAACGCCC	0.587																																						ENST00000217026.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46						c.(1564-1566)ttC>ttA		v-myb avian myeloblastosis viral oncogene homolog-like 2							189.0	187.0	187.0					20																	42338663		2203	4300	6503	SO:0001583	missense	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42338663C>A		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.1566C>A	20.37:g.42338663C>A	ENSP00000217026:p.Phe522Leu					MYBL2_ENST00000396863.4_Missense_Mutation_p.F498L	p.F522L	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		10	1693	+		Myeloproliferative disorder(115;0.00452)	522					B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	ENST00000217026.4	37	c.1566C>A	CCDS13322.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803233	0.70682	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.61274	0.12;0.12	4.86	3.92	0.45320	C-myb, C-terminal (1);	0.055487	0.85682	D	0.000000	T	0.74114	0.3674	M	0.84082	2.675	0.58432	D	0.999991	P;D	0.76494	0.7;0.999	B;D	0.79108	0.372;0.992	T	0.75783	-0.3196	10	0.62326	D	0.03	-25.04	8.884	0.35392	0.0:0.8249:0.0:0.1751	.	498;522	F8W6N6;P10244	.;MYBB_HUMAN	L	498;522	ENSP00000380072:F498L;ENSP00000217026:F522L	ENSP00000217026:F522L	F	+	3	2	MYBL2	41772077	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	1.304000	0.33482	1.197000	0.43143	0.467000	0.42956	TTC		0.587	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		15	863	1	0	3.45872e-05	3.45872e-05	0.00669873	15	863				
ZNF30	90075	broad.mit.edu	37	19	35434709	35434709	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:35434709G>T	ENST00000601142.1	+	5	1076	c.839G>T	c.(838-840)cGa>cTa	p.R280L	ZNF30_ENST00000439785.1_Missense_Mutation_p.R281L|ZNF30_ENST00000303586.7_Missense_Mutation_p.R281L|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000426813.2_Missense_Mutation_p.R199L			P17039	ZNF30_HUMAN	zinc finger protein 30	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		CAACATCAGCGAATTCATACC	0.473																																						ENST00000439785.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16						c.(841-843)cGa>cTa		zinc finger protein 30							75.0	85.0	82.0					19																	35434709		2185	4290	6475	SO:0001583	missense	90075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35434709G>T	X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"""Zinc fingers, C2H2-type"", ""-"""	13090	protein-coding gene	gene with protein product			"""zinc finger protein 30 (KOX 28)"""				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.839G>T	19.37:g.35434709G>T	ENSP00000469954:p.Arg280Leu					ZNF30_ENST00000303586.7_Missense_Mutation_p.R281L|ZNF30_ENST00000601142.1_Missense_Mutation_p.R280L|ZNF30_ENST00000426813.2_Missense_Mutation_p.R199L|ZNF30_ENST00000601957.1_3'UTR	p.R281L	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)	5	1286	+	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		280					A5PLP1|A8K320|B4DIC0|Q6N068	Missense_Mutation	SNP	ENST00000601142.1	37	c.842G>T	CCDS46045.1	.	.	.	.	.	.	.	.	.	.	g	12.92	2.082696	0.36758	.	.	ENSG00000168661	ENST00000439785;ENST00000303586;ENST00000426813;ENST00000342559	T;T	0.25085	1.82;1.82	2.01	0.941	0.19519	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19565	0.0470	L	0.53617	1.68	0.22401	N	0.999136	P;P	0.49358	0.923;0.844	B;B	0.37144	0.242;0.2	T	0.20438	-1.0275	9	0.62326	D	0.03	.	6.149	0.20301	0.1854:0.0:0.8146:0.0	.	281;280	P17039-2;P17039	.;ZNF30_HUMAN	L	281;280;199;17	ENSP00000403441:R281L;ENSP00000416457:R199L	ENSP00000303889:R280L	R	+	2	0	ZNF30	40126549	0.002000	0.14202	0.016000	0.15963	0.100000	0.18952	1.241000	0.32743	1.121000	0.41925	0.404000	0.27445	CGA		0.473	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1	NM_194325		8	337	1	0	2.17888e-05	2.17888e-05	0.00444706	8	337				
TMEM248	55069	broad.mit.edu	37	7	66418350	66418350	+	Silent	SNP	C	C	A	rs375502371		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:66418350C>A	ENST00000341567.4	+	6	1173	c.918C>A	c.(916-918)ccC>ccA	p.P306P		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	306						integral component of membrane (GO:0016021)		p.P306P(1)									AATTTTGTCCCGAGAAGGTGA	0.453																																						ENST00000341567.4																			1	Substitution - coding silent(1)	p.P306P(1)	lung(1)								c.(916-918)ccC>ccA		transmembrane protein 248							160.0	154.0	156.0					7																	66418350		2203	4300	6503	SO:0001819	synonymous_variant	55069							g.chr7:66418350C>A		CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609			25476	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 42"""	C7orf42		12477932	Standard	XM_005250482		Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.918C>A	7.37:g.66418350C>A							p.P306P	NM_017994.4	NP_060464.1					6	1173	+								Q53H07|Q96FR2	Silent	SNP	ENST00000341567.4	37	c.918C>A	CCDS5536.1																																																																																				0.453	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251745.2	NM_017994		10	795	1	0	9.31168e-06	9.31168e-06	0.00207751	10	795				
LUZP4	51213	broad.mit.edu	37	X	114540856	114540856	+	Silent	SNP	G	G	A	rs148942179		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chrX:114540856G>A	ENST00000371920.3	+	4	436	c.429G>A	c.(427-429)ccG>ccA	p.P143P	LUZP4_ENST00000451986.2_Silent_p.P61P	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	143						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						AAGGAAATCCGGACAAATCAG	0.473																																						ENST00000371920.3																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						c.(427-429)ccG>ccA		leucine zipper protein 4		G		0,3835		0,0,1632,571	85.0	80.0	82.0		429	-2.5	0.0	X	dbSNP_134	82	2,6726		0,2,2426,1872	no	coding-synonymous	LUZP4	NM_016383.3		0,2,4058,2443	AA,AG,GG,G		0.0297,0.0,0.0189		143/314	114540856	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	51213					nucleus		g.chrX:114540856G>A	AF124430	CCDS14567.1	Xq24	2009-03-25			ENSG00000102021	ENSG00000102021			24971	protein-coding gene	gene with protein product	"""cancer/testis antigen 28"""	300616				12032826, 11051238	Standard	XM_005268343		Approved	HOM-TES-85, CT-8, CT28	uc004eqa.3	Q9P127	OTTHUMG00000022234	ENST00000371920.3:c.429G>A	X.37:g.114540856G>A						LUZP4_ENST00000451986.2_Silent_p.P61P	p.P143P	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN			4	436	+			143					B3KSD6	Silent	SNP	ENST00000371920.3	37	c.429G>A	CCDS14567.1																																																																																				0.473	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057972.1	NM_016383		37	166	0	0	0	1.8613e-05	0	37	166				
DNAJB14	79982	broad.mit.edu	37	4	100830014	100830014	+	Missense_Mutation	SNP	T	T	C			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:100830014T>C	ENST00000442697.2	-	4	645	c.491A>G	c.(490-492)aAg>aGg	p.K164R		NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	164	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		CTGTTTTCGCTTTTCTGGATT	0.353																																						ENST00000442697.2																			0				kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(490-492)aAg>aGg		DnaJ (Hsp40) homolog, subfamily B, member 14							95.0	90.0	92.0					4																	100830014		2202	4299	6501	SO:0001583	missense	79982				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr4:100830014T>C	BC022248	CCDS34035.1, CCDS75171.1	4q23	2011-09-02			ENSG00000164031	ENSG00000164031		"""Heat shock proteins / DNAJ (HSP40)"""	25881	protein-coding gene	gene with protein product							Standard	NM_001031723		Approved	FLJ14281	uc003hvl.4	Q8TBM8	OTTHUMG00000131049	ENST00000442697.2:c.491A>G	4.37:g.100830014T>C	ENSP00000404381:p.Lys164Arg						p.K164R	NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)	4	645	-			164			J.		Q6UXN1|Q7Z3P0|Q86TA7|Q86TM0|Q9GZU9	Missense_Mutation	SNP	ENST00000442697.2	37	c.491A>G	CCDS34035.1	.	.	.	.	.	.	.	.	.	.	T	31	5.079506	0.94050	.	.	ENSG00000164031	ENST00000442697	T	0.35973	1.28	5.8	5.8	0.92144	Heat shock protein DnaJ, N-terminal (5);Heat shock protein DnaJ, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.46483	0.1395	N	0.20685	0.6	0.80722	D	1	D;D	0.71674	0.994;0.998	D;D	0.78314	0.954;0.991	T	0.50608	-0.8808	10	0.62326	D	0.03	.	16.1549	0.81657	0.0:0.0:0.0:1.0	.	164;79	Q8TBM8;Q8TBM8-2	DJB14_HUMAN;.	R	164	ENSP00000404381:K164R	ENSP00000404381:K164R	K	-	2	0	DNAJB14	101049037	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.490000	0.81461	2.209000	0.71365	0.533000	0.62120	AAG		0.353	DNAJB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253696.2	NM_001031723.2		36	379	0	0	0	1.13552e-05	0	36	379				
TINAG	27283	broad.mit.edu	37	6	54254663	54254663	+	Silent	SNP	C	C	A	rs139720660	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:54254663C>A	ENST00000259782.4	+	11	1467	c.1371C>A	c.(1369-1371)tcC>tcA	p.S457S		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	457					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TAAATGAGTCCGACATTGAAA	0.398																																						ENST00000259782.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34						c.(1369-1371)tcC>tcA		tubulointerstitial nephritis antigen							143.0	139.0	141.0					6																	54254663		2203	4300	6503	SO:0001819	synonymous_variant	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54254663C>A	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1371C>A	6.37:g.54254663C>A							p.S457S	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		11	1467	+	Lung NSC(77;0.0518)		457					Q5T467|Q9UJW1|Q9ULZ4	Silent	SNP	ENST00000259782.4	37	c.1371C>A	CCDS4955.1																																																																																				0.398	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		15	817	1	0	3.52763e-06	5.01169e-05	0.000896964	15	817				
TRAJ45	28710	broad.mit.edu	37	14	22965873	22965873	+	RNA	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr14:22965873G>T	ENST00000390492.1	+	0	66				TRAJ42_ENST00000390495.1_RNA|TRAJ43_ENST00000390494.1_RNA|TRAJ41_ENST00000390496.1_RNA|TRAJ44_ENST00000390493.1_RNA|TRAJ40_ENST00000390497.1_RNA					T cell receptor alpha joining 45																		AGGACTGTGTGAATTATGGAG	0.453																																						ENST00000390495.1																			0																				132.0	128.0	129.0					14																	22965873		1844	4100	5944			0							g.chr14:22965873G>T	M94081		14q11.2	2012-02-07			ENSG00000211844	ENSG00000211844		"""T cell receptors / TRA locus"""	12076	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170922		14.37:g.22965873G>T														0	2	+									RNA	SNP	ENST00000390492.1	37																																																																																						0.453	TRAJ45-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	TR_J_gene	TR_J_gene	OTTHUMT00000410953.1	NG_001332		13	423	1	0	2.31682e-05	2.31682e-05	0.00456484	13	423				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr						p.A99T	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		5	301	0	0	0	1.23904e-05	0	5	301				
CCDC157	550631	broad.mit.edu	37	22	30766541	30766541	+	Missense_Mutation	SNP	C	C	T	rs536552530		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:30766541C>T	ENST00000405659.1	+	5	1356	c.647C>T	c.(646-648)aCg>aTg	p.T216M	CCDC157_ENST00000338306.3_Missense_Mutation_p.T216M			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	216										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						ACCATTGAGACGGCCCTGGTG	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20139	0.0		0.0	False		,,,				2504	0.0					ENST00000405659.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						c.(646-648)aCg>aTg		coiled-coil domain containing 157							92.0	81.0	84.0					22																	30766541		2203	4300	6503	SO:0001583	missense	550631							g.chr22:30766541C>T	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.647C>T	22.37:g.30766541C>T	ENSP00000385357:p.Thr216Met					CCDC157_ENST00000338306.3_Missense_Mutation_p.T216M	p.T216M			Q569K6	CC157_HUMAN			5	1356	+			216					Q0VD76|Q9BYA4	Missense_Mutation	SNP	ENST00000405659.1	37	c.647C>T	CCDS33632.2	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961385	0.92791	.	.	ENSG00000187860	ENST00000405659;ENST00000338306	T;T	0.32515	1.45;1.45	5.54	5.54	0.83059	.	0.129526	0.53938	D	0.000060	T	0.55273	0.1910	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.54490	-0.8286	10	0.87932	D	0	-22.7807	19.2866	0.94077	0.0:1.0:0.0:0.0	.	216	Q569K6	CC157_HUMAN	M	216	ENSP00000385357:T216M;ENSP00000343087:T216M	ENSP00000343087:T216M	T	+	2	0	CCDC157	29096541	1.000000	0.71417	0.959000	0.39883	0.856000	0.48823	7.005000	0.76323	2.884000	0.98904	0.655000	0.94253	ACG		0.622	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437		27	244	0	0	0	9.90768e-06	0	27	244				
PDZRN3	23024	broad.mit.edu	37	3	73432928	73432928	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:73432928G>A	ENST00000263666.4	-	10	2903	c.2789C>T	c.(2788-2790)aCg>aTg	p.T930M	PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000462146.2_Missense_Mutation_p.T587M|PDZRN3_ENST00000535920.1_Missense_Mutation_p.T652M|PDZRN3_ENST00000466780.1_Missense_Mutation_p.T587M|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T647M	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	930					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GATGTAGCGCGTCCCGTCGCT	0.672																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(2788-2790)aCg>aTg		PDZ domain containing ring finger 3							35.0	35.0	35.0					3																	73432928		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73432928G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2789C>T	3.37:g.73432928G>A	ENSP00000263666:p.Thr930Met					PDZRN3_ENST00000535920.1_Missense_Mutation_p.T652M|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T647M|PDZRN3_ENST00000466780.1_Missense_Mutation_p.T587M|PDZRN3_ENST00000462146.2_Missense_Mutation_p.T587M	p.T930M	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2903	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	930					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.2789C>T	CCDS33789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.162279|4.162279	0.78226|0.78226	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000494559|ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	.|T;T;T;T;T	.|0.45276	.|0.9;0.9;0.9;0.9;0.9	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.150407	.|0.64402	.|D	.|0.000015	T|T	0.68274|0.68274	0.2983|0.2983	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;P;D;D	.|0.75484	.|0.986;0.874;0.957;0.911	T|T	0.72717|0.72717	-0.4209|-0.4209	5|10	.|0.87932	.|D	.|0	.|.	18.7949|18.7949	0.91990|0.91990	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|652;647;647;930	.|F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.|.;.;.;PZRN3_HUMAN	C|M	246|930;652;587;587;647	.|ENSP00000263666:T930M;ENSP00000442026:T652M;ENSP00000418168:T587M;ENSP00000418484:T587M;ENSP00000418624:T647M	.|ENSP00000263666:T930M	R|T	-|-	1|2	0|0	PDZRN3|PDZRN3	73515618|73515618	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.915000|0.915000	0.54546|0.54546	7.532000|7.532000	0.81985|0.81985	2.522000|2.522000	0.85027|0.85027	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.672	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		31	209	0	0	0	5.84002e-05	0	31	209				
FASTK	10922	broad.mit.edu	37	7	150775665	150775665	+	Missense_Mutation	SNP	G	G	A	rs377740282		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:150775665G>A	ENST00000297532.6	-	4	886	c.809C>T	c.(808-810)aCg>aTg	p.T270M	FASTK_ENST00000482571.1_Missense_Mutation_p.T243M|FASTK_ENST00000540185.1_Intron|FASTK_ENST00000353841.2_Missense_Mutation_p.T129M|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000489884.1_5'UTR	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	270					apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674)			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GCTGAGTTGCGTTTCCTGAAC	0.642																																						ENST00000297532.6																			0				lung(4)|stomach(2)	6						c.(808-810)aCg>aTg		Fas-activated serine/threonine kinase		G	MET/THR,MET/THR	0,4406		0,0,2203	58.0	60.0	59.0		809,386	0.7	1.0	7		59	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FASTK	NM_006712.3,NM_033015.2	81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	270/550,129/409	150775665	1,13005	2203	4300	6503	SO:0001583	missense	10922				apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding	g.chr7:150775665G>A		CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896			24676	protein-coding gene	gene with protein product		606965				7544399, 15572676	Standard	NM_006712		Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.809C>T	7.37:g.150775665G>A	ENSP00000297532:p.Thr270Met					FASTK_ENST00000482571.1_Missense_Mutation_p.T243M|FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000353841.2_Missense_Mutation_p.T129M|FASTK_ENST00000540185.1_Intron	p.T270M	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)	4	886	-			270					A8K867|F8VTW9|Q59EM8|Q8IVA0	Missense_Mutation	SNP	ENST00000297532.6	37	c.809C>T	CCDS5918.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657389	0.29425	0.0	1.16E-4	ENSG00000164896	ENST00000483105;ENST00000297530;ENST00000353841;ENST00000297532;ENST00000482571	T;T;T	0.30448	1.94;1.94;1.53	4.75	0.664	0.17890	.	0.729997	0.12332	N	0.478305	T	0.11793	0.0287	N	0.08118	0	0.80722	D	1	P;B;B	0.47545	0.897;0.002;0.0	B;B;B	0.37091	0.241;0.001;0.0	T	0.10660	-1.0620	10	0.56958	D	0.05	6.7165	3.399	0.07316	0.0809:0.2673:0.3781:0.2737	.	243;129;270	F8VTW9;Q8IVA0;Q14296	.;.;FASTK_HUMAN	M	270;270;129;270;243	ENSP00000324817:T129M;ENSP00000297532:T270M;ENSP00000418516:T243M	ENSP00000297530:T270M	T	-	2	0	FASTK	150406598	1.000000	0.71417	0.964000	0.40570	0.859000	0.49053	1.929000	0.40114	0.003000	0.14656	-0.152000	0.13540	ACG		0.642	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351832.2	NM_006712		40	137	0	0	0	2.05139e-05	0	40	137				
CD209	30835	broad.mit.edu	37	19	7810698	7810698	+	Missense_Mutation	SNP	A	A	G			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:7810698A>G	ENST00000315599.7	-	4	476	c.454T>C	c.(454-456)Tgg>Cgg	p.W152R	CD209_ENST00000394161.5_Intron|CD209_ENST00000593660.1_Missense_Mutation_p.W128R|CD209_ENST00000602261.1_Missense_Mutation_p.W152R|CD209_ENST00000315591.8_Missense_Mutation_p.W128R|CD209_ENST00000301357.8_Intron|CD209_ENST00000394173.4_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.W152R|CD209_ENST00000593821.1_Missense_Mutation_p.W108R|CD209_ENST00000601256.1_Missense_Mutation_p.W128R|CD209_ENST00000601951.1_Missense_Mutation_p.W128R|CD209_ENST00000204801.8_Missense_Mutation_p.W108R	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	152	7 X approximate tandem repeats.			W -> Q (in Ref. 4; AAK91848). {ECO:0000305}.	antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.W152R(4)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCAGGTCAGCTCC	0.557																																						ENST00000315599.7																			4	Substitution - Missense(4)	p.W152R(4)	skin(4)	endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(454-456)Tgg>Cgg		CD209 molecule							116.0	114.0	115.0					19																	7810698		2200	4298	6498	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810698A>G	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.454T>C	19.37:g.7810698A>G	ENSP00000315477:p.Trp152Arg					CD209_ENST00000602261.1_Missense_Mutation_p.W152R|CD209_ENST00000601951.1_Missense_Mutation_p.W128R|CD209_ENST00000601256.1_Missense_Mutation_p.W128R|CD209_ENST00000593660.1_Missense_Mutation_p.W128R|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.W152R|CD209_ENST00000394173.4_Intron|CD209_ENST00000315591.8_Missense_Mutation_p.W128R|CD209_ENST00000204801.8_Missense_Mutation_p.W108R|CD209_ENST00000593821.1_Missense_Mutation_p.W108R|CD209_ENST00000301357.8_Intron	p.W152R	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			4	476	-			152			7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.454T>C	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	N	0	-2.702335	0.00097	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000540789	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	1.11	-1.88	0.07713	.	.	.	.	.	T	0.03434	0.0099	N	0.00128	-2.045	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B	0.06405	0.001;0.001;0.0;0.001;0.001;0.0;0.0;0.0;0.002	T	0.40979	-0.9534	9	0.18276	T	0.48	.	5.8395	0.18625	0.6612:0.0:0.3388:0.0	.	152;128;108;128;152;152;128;128;152	Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;CD209_HUMAN;.;.;.	R	152;152;128;108;152;136	ENSP00000315477:W152R;ENSP00000346373:W152R;ENSP00000315407:W128R;ENSP00000204801:W108R	ENSP00000204801:W108R	W	-	1	0	CD209	7716698	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.109000	0.03309	-1.261000	0.02462	-0.386000	0.06593	TGG		0.557	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		8	748	0	0	0	1.12685e-05	0	8	748				
GLRA1	2741	broad.mit.edu	37	5	151208531	151208531	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:151208531C>A	ENST00000455880.2	-	8	1296	c.1010G>T	c.(1009-1011)cGg>cTg	p.R337L	GLRA1_ENST00000545569.1_Missense_Mutation_p.R254L|GLRA1_ENST00000274576.4_Missense_Mutation_p.R337L			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	337					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTTATGTTGCCGAGACACAAA	0.478																																						ENST00000274576.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23						c.(1009-1011)cGg>cTg		glycine receptor, alpha 1	Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						137.0	134.0	135.0					5																	151208531		2203	4300	6503	SO:0001583	missense	2741				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	g.chr5:151208531C>A		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"""Ligand-gated ion channels / Glycine receptors"""	4326	protein-coding gene	gene with protein product	"""startle disease/hyperekplexia"", ""stiff person syndrome"""	138491	"""glycine receptor, alpha 1 (startle disease/hyperekplexia)"""	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.1010G>T	5.37:g.151208531C>A	ENSP00000411593:p.Arg337Leu					GLRA1_ENST00000545569.1_Missense_Mutation_p.R254L|GLRA1_ENST00000455880.2_Missense_Mutation_p.R337L	p.R337L	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		8	1302	-		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	337					B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	37	c.1010G>T	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369025	0.82463	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	D;D;D	0.85411	-1.98;-1.98;-1.98	5.07	5.07	0.68467	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.90428	0.7003	M	0.79693	2.465	0.80722	D	1	P;P;P	0.36789	0.57;0.493;0.514	P;P;B	0.47376	0.545;0.545;0.313	D	0.91347	0.5101	10	0.72032	D	0.01	.	18.826	0.92119	0.0:1.0:0.0:0.0	.	337;254;337	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	L	337;337;254	ENSP00000274576:R337L;ENSP00000411593:R337L;ENSP00000445913:R254L	ENSP00000274576:R337L	R	-	2	0	GLRA1	151188724	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.557000	0.82243	2.524000	0.85096	0.650000	0.86243	CGG		0.478	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			11	739	1	0	1.58986e-06	3.86212e-05	0.000423164	11	739				
APPL2	55198	broad.mit.edu	37	12	105597519	105597519	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:105597519C>A	ENST00000258530.3	-	9	891	c.666G>T	c.(664-666)atG>atT	p.M222I	APPL2_ENST00000549573.1_5'UTR|APPL2_ENST00000539978.2_Missense_Mutation_p.M179I|APPL2_ENST00000551662.1_Missense_Mutation_p.M228I	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0	Asp/Glu-rich (highly acidic).|Poly-Glu.				cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AAAAGCTGTCCATACGTTTGG	0.418																																						ENST00000258530.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(664-666)atG>atT		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2							169.0	169.0	169.0					12																	105597519		2203	4300	6503	SO:0001583	missense	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105597519C>A	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.666G>T	12.37:g.105597519C>A	ENSP00000258530:p.Met222Ile					APPL2_ENST00000549573.1_5'UTR|APPL2_ENST00000539978.2_Missense_Mutation_p.M179I|APPL2_ENST00000551662.1_Missense_Mutation_p.M228I	p.M222I	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN			9	891	-			222			Required for RAB5A binding (By similarity).		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	c.666G>T	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301684	0.40694	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662	T;T;T	0.03920	3.76;3.76;3.76	5.56	5.56	0.83823	.	0.037498	0.85682	D	0.000000	T	0.08714	0.0216	L	0.60455	1.87	0.58432	D	0.999999	B;B;B	0.31209	0.313;0.129;0.129	B;B;B	0.30251	0.113;0.053;0.048	T	0.04900	-1.0919	10	0.59425	D	0.04	-30.1684	17.7181	0.88343	0.0:1.0:0.0:0.0	.	228;179;222	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	I	222;179;228	ENSP00000258530:M222I;ENSP00000444472:M179I;ENSP00000446917:M228I	ENSP00000258530:M222I	M	-	3	0	APPL2	104121649	1.000000	0.71417	1.000000	0.80357	0.525000	0.34531	5.448000	0.66612	2.620000	0.88729	0.655000	0.94253	ATG		0.418	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		20	1020	1	0	4.96729e-08	1.15919e-05	1.44924e-05	20	1020				
PKNOX1	5316	broad.mit.edu	37	21	44448897	44448897	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr21:44448897C>A	ENST00000291547.5	+	10	1223	c.1012C>A	c.(1012-1014)Cag>Aag	p.Q338K	PKNOX1_ENST00000607150.1_3'UTR|PKNOX1_ENST00000432907.2_Missense_Mutation_p.Q221K	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	338					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						AAAAACTGCTCAGAACCGGCC	0.502																																						ENST00000291547.5																			0				cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						c.(1012-1014)Cag>Aag		PBX/knotted 1 homeobox 1							107.0	119.0	115.0					21																	44448897		2203	4300	6503	SO:0001583	missense	5316						sequence-specific DNA binding	g.chr21:44448897C>A		CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"""Homeoboxes / TALE class"""	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.1012C>A	21.37:g.44448897C>A	ENSP00000291547:p.Gln338Lys					PKNOX1_ENST00000607150.1_3'UTR|PKNOX1_ENST00000432907.2_Missense_Mutation_p.Q221K	p.Q338K	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN			10	1223	+			338					O00528|Q8IWT7	Missense_Mutation	SNP	ENST00000291547.5	37	c.1012C>A	CCDS13692.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617943	0.87359	.	.	ENSG00000160199	ENST00000291547;ENST00000432907	D;D	0.86562	-1.86;-2.14	5.39	5.39	0.77823	.	0.171230	0.53938	D	0.000057	D	0.86952	0.6057	L	0.60455	1.87	0.80722	D	1	B;P	0.36837	0.349;0.571	B;B	0.39027	0.142;0.288	D	0.85519	0.1202	10	0.36615	T	0.2	-32.1223	19.5223	0.95190	0.0:1.0:0.0:0.0	.	338;338	P55347;P55347-2	PKNX1_HUMAN;.	K	338;221	ENSP00000291547:Q338K;ENSP00000402243:Q221K	ENSP00000291547:Q338K	Q	+	1	0	PKNOX1	43321966	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	6.992000	0.76238	2.691000	0.91804	0.655000	0.94253	CAG		0.502	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195520.3			14	753	1	0	9.31168e-06	9.31168e-06	0.00207751	14	753				
RPF2	84154	broad.mit.edu	37	6	111346763	111346763	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:111346763C>A	ENST00000441448.2	+	10	991	c.899C>A	c.(898-900)tCa>tAa	p.S300*		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	300						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						GAGAAAAAGTCAAAAAGAATT	0.378																																						ENST00000441448.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						c.(898-900)tCa>tAa		ribosome production factor 2 homolog (S. cerevisiae)							39.0	43.0	42.0					6																	111346763		2202	4300	6502	SO:0001587	stop_gained	84154					nucleolus	protein binding	g.chr6:111346763C>A	AK024740	CCDS5088.1	6q21	2009-09-25	2009-09-25	2009-09-25	ENSG00000197498	ENSG00000197498			20870	protein-coding gene	gene with protein product	"""ribosomal processing factor 2 homolog (S. cerevisiae)"""		"""brix domain containing 1"""	BXDC1		12048200	Standard	NM_032194		Approved	FLJ21087, bA397G5.4	uc003pun.3	Q9H7B2	OTTHUMG00000015368	ENST00000441448.2:c.899C>A	6.37:g.111346763C>A	ENSP00000402338:p.Ser300*						p.S300*	NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN			10	991	+			300					Q5VXN1|Q8N4A1	Nonsense_Mutation	SNP	ENST00000441448.2	37	c.899C>A	CCDS5088.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.083416	0.55861	.	.	ENSG00000197498	ENST00000441448	.	.	.	5.8	5.8	0.92144	.	0.924071	0.09228	N	0.831007	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-28.3023	20.0693	0.97712	0.0:1.0:0.0:0.0	.	.	.	.	X	300	.	ENSP00000402338:S300X	S	+	2	0	RPF2	111453456	0.992000	0.36948	0.965000	0.40720	0.017000	0.09413	1.696000	0.37773	2.758000	0.94735	0.563000	0.77884	TCA		0.378	RPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041813.2	NM_032194		13	154	1	0	1.5739e-10	3.45872e-05	4.80767e-08	13	154				
RPTN	126638	broad.mit.edu	37	1	152128689	152128689	+	Missense_Mutation	SNP	C	C	T	rs201025925		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:152128689C>T	ENST00000316073.3	-	3	950	c.886G>A	c.(886-888)Ggt>Agt	p.G296S		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	296	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCCGTCTGACCGTAGTGGGAA	0.498													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22400	0.0		0.0	False		,,,				2504	0.0					ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(886-888)Ggt>Agt		repetin							597.0	514.0	540.0					1																	152128689		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128689C>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.886G>A	1.37:g.152128689C>T	ENSP00000317895:p.Gly296Ser						p.G296S	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	950	-			296			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.886G>A	CCDS41397.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	16.30	3.083172	0.55861	.	.	ENSG00000215853	ENST00000316073	T	0.12984	2.63	4.73	-0.515	0.11954	.	.	.	.	.	T	0.07098	0.0180	L	0.33792	1.035	0.09310	N	1	D	0.65815	0.995	P	0.54140	0.743	T	0.25398	-1.0133	9	0.49607	T	0.09	-8.2231	8.1514	0.31143	0.0:0.4582:0.0:0.5418	.	296	Q6XPR3	RPTN_HUMAN	S	296	ENSP00000317895:G296S	ENSP00000317895:G296S	G	-	1	0	RPTN	150395313	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.770000	0.04705	0.098000	0.17522	-0.409000	0.06214	GGT		0.498	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		13	1804	0	0	0	5.3912e-06	0	13	1804				
BRWD1	54014	broad.mit.edu	37	21	40582011	40582011	+	Silent	SNP	C	C	A	rs182568595	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr21:40582011C>A	ENST00000333229.2	-	36	4434	c.4107G>T	c.(4105-4107)gcG>gcT	p.A1369A	BRWD1_ENST00000342449.3_Silent_p.A1369A|BRWD1_ENST00000380800.3_Silent_p.A1369A	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1369	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CATAATTTCCCGCATCTAGAG	0.343																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(4105-4107)gcG>gcT		bromodomain and WD repeat domain containing 1							97.0	95.0	96.0					21																	40582011		2202	4300	6502	SO:0001819	synonymous_variant	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40582011C>A	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.4107G>T	21.37:g.40582011C>A						BRWD1_ENST00000380800.3_Silent_p.A1369A|BRWD1_ENST00000333229.2_Silent_p.A1369A	p.A1369A	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			36	4185	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1369			Bromo 2.		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Silent	SNP	ENST00000333229.2	37	c.4107G>T	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	8.213	0.800783	0.16397	.	.	ENSG00000185658	ENST00000424441	.	.	.	6.17	-12.3	0.00002	.	.	.	.	.	T	0.32071	0.0817	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46289	-0.9202	4	.	.	.	-3.6845	2.484	0.04594	0.3027:0.0696:0.222:0.4057	.	.	.	.	W	307	.	.	G	-	1	0	BRWD1	39503881	0.000000	0.05858	0.024000	0.17045	0.968000	0.65278	-2.124000	0.01318	-3.448000	0.00161	-0.181000	0.13052	GGG		0.343	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		8	420	1	0	3.86212e-05	3.86212e-05	0.00711662	8	420				
CENPP	401541	broad.mit.edu	37	9	95099894	95099894	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:95099894C>A	ENST00000375587.3	+	3	876	c.361C>A	c.(361-363)Cag>Aag	p.Q121K		NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	121					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						ACTTGAATTTCAGATTCTGGA	0.343																																						ENST00000375587.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						c.(361-363)Cag>Aag		centromere protein P							86.0	91.0	89.0					9																	95099894		2203	4300	6503	SO:0001583	missense	401541				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm		g.chr9:95099894C>A	AK091247	CCDS35063.1, CCDS69618.1	9q22.31	2013-11-05			ENSG00000188312	ENSG00000188312			32933	protein-coding gene	gene with protein product		611505				16622419, 16622420	Standard	NM_001286969		Approved	RP11-19J3.3, CENP-P	uc004arz.3	Q6IPU0	OTTHUMG00000020228	ENST00000375587.3:c.361C>A	9.37:g.95099894C>A	ENSP00000364737:p.Gln121Lys						p.Q121K	NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN			3	876	+			121					B3KRA5|B3KS17|Q5T9F8|Q5T9F9	Missense_Mutation	SNP	ENST00000375587.3	37	c.361C>A	CCDS35063.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.573854	0.45902	.	.	ENSG00000188312	ENST00000375587;ENST00000402724	.	.	.	5.11	3.2	0.36748	.	0.248287	0.32703	N	0.005743	T	0.58807	0.2148	L	0.50333	1.59	0.80722	D	1	P;P	0.46859	0.749;0.885	P;P	0.48770	0.492;0.589	T	0.59804	-0.7385	9	0.48119	T	0.1	-5.334	13.3941	0.60840	0.0:0.6865:0.3135:0.0	.	121;80	Q6IPU0;Q7Z672	CENPP_HUMAN;.	K	121;80	.	ENSP00000364737:Q121K	Q	+	1	0	CENPP	94139715	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.696000	0.37773	0.770000	0.33336	0.655000	0.94253	CAG		0.343	CENPP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053098.1	NM_001012267		14	975	1	0	3.45872e-05	3.45872e-05	0.00669873	14	975				
KRT18	3875	broad.mit.edu	37	12	53344192	53344192	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:53344192C>A	ENST00000388835.3	+	2	708	c.498C>A	c.(496-498)gtC>gtA	p.V166V	KRT8_ENST00000552551.1_5'Flank|AC107016.2_ENST00000581256.1_RNA|KRT18_ENST00000550600.1_Silent_p.V166V|KRT8_ENST00000549198.1_5'Flank|KRT18_ENST00000388837.2_Silent_p.V166V|KRT8_ENST00000546897.1_5'Flank	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	166	Coil 1B.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						ACTTTAGAGTCAAGTAAGTTT	0.537																																						ENST00000550600.1																			0				central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						c.(496-498)gtC>gtA		keratin 18							201.0	210.0	207.0					12																	53344192		2203	4300	6503	SO:0001819	synonymous_variant	3875				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr12:53344192C>A		CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.498C>A	12.37:g.53344192C>A						KRT18_ENST00000388837.2_Silent_p.V166V|KRT18_ENST00000388835.3_Silent_p.V166V	p.V166V			P05783	K1C18_HUMAN			3	552	+			166			Coil 1B.|Necessary for interaction with PNN.|Rod.		Q53G38|Q5U0N8|Q9BW26	Silent	SNP	ENST00000388835.3	37	c.498C>A	CCDS31809.1																																																																																				0.537	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406405.1	NM_199187		19	1216	1	0	2.31682e-05	2.31682e-05	0.00456484	19	1216				
RIMS2	9699	broad.mit.edu	37	8	105257203	105257203	+	Missense_Mutation	SNP	G	G	A	rs377163259		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr8:105257203G>A	ENST00000436393.2	+	24	3689	c.3448G>A	c.(3448-3450)Gtg>Atg	p.V1150M	RIMS2_ENST00000262231.10_Missense_Mutation_p.V971M|RIMS2_ENST00000406091.3_Missense_Mutation_p.V1132M|RIMS2_ENST00000339750.2_Missense_Mutation_p.V68M|RIMS2_ENST00000507740.1_Missense_Mutation_p.V946M			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1194					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGGCCTGGCCGTGGAAATGAG	0.463										HNSCC(12;0.0054)																												ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(2836-2838)Gtg>Atg		regulating synaptic membrane exocytosis 2		G	MET/VAL,MET/VAL	0,4038		0,0,2019	129.0	136.0	133.0		2836,3394	5.1	1.0	8		133	1,8363		0,1,4181	no	missense,missense	RIMS2	NM_014677.4,NM_001100117.2	21,21	0,1,6200	AA,AG,GG		0.012,0.0,0.0081	benign,benign	946/1164,1132/1350	105257203	1,12401	2019	4182	6201	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105257203G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3448G>A	8.37:g.105257203G>A	ENSP00000390665:p.Val1150Met	HNSCC(12;0.0054)				RIMS2_ENST00000339750.2_Missense_Mutation_p.V68M|RIMS2_ENST00000262231.10_Missense_Mutation_p.V971M|RIMS2_ENST00000406091.3_Missense_Mutation_p.V1132M|RIMS2_ENST00000436393.2_Missense_Mutation_p.V1150M	p.V946M	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		18	3072	+			1194					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2836G>A		.	.	.	.	.	.	.	.	.	.	G	16.59	3.166677	0.57476	0.0	1.2E-4	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T;T	0.21361	2.58;2.28;2.27;2.03;2.48;2.02;2.01	5.05	5.05	0.67936	.	.	.	.	.	T	0.28797	0.0714	L	0.43152	1.355	0.58432	D	0.999996	D;P;D;B;B	0.56035	0.974;0.669;0.966;0.161;0.161	P;B;P;B;B	0.49047	0.499;0.032;0.599;0.024;0.024	T	0.01051	-1.1468	9	0.44086	T	0.13	.	18.5918	0.91215	0.0:0.0:1.0:0.0	.	1194;1150;971;946;1132	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	M	1169;1132;1194;971;946;1139;1150;68;68	ENSP00000384892:V1132M;ENSP00000262231:V971M;ENSP00000423559:V946M;ENSP00000386228:V1139M;ENSP00000390665:V1150M;ENSP00000428478:V68M;ENSP00000342051:V68M	ENSP00000262231:V971M	V	+	1	0	RIMS2	105326379	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.807000	0.86032	2.623000	0.88846	0.650000	0.86243	GTG		0.463	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		108	613	0	0	0	2.47226e-05	0	108	613				
SCN5A	6331	broad.mit.edu	37	3	38645288	38645288	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:38645288G>T	ENST00000333535.4	-	12	1954	c.1805C>A	c.(1804-1806)tCa>tAa	p.S602*	SCN5A_ENST00000443581.1_Nonsense_Mutation_p.S602*|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000413689.1_Nonsense_Mutation_p.S602*|SCN5A_ENST00000425664.1_Nonsense_Mutation_p.S602*|SCN5A_ENST00000423572.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000455624.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000414099.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000451551.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000449557.2_Nonsense_Mutation_p.S602*			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	602					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CCCCAGTAATGAGACCACCCC	0.657																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(1804-1806)tCa>tAa		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						69.0	73.0	72.0					3																	38645288		2006	4186	6192	SO:0001587	stop_gained	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38645288G>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1805C>A	3.37:g.38645288G>T	ENSP00000328968:p.Ser602*					SCN5A_ENST00000455624.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000451551.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000414099.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000449557.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000425664.1_Nonsense_Mutation_p.S602*|SCN5A_ENST00000333535.4_Nonsense_Mutation_p.S602*|SCN5A_ENST00000423572.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000443581.1_Nonsense_Mutation_p.S602*	p.S602*	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	12	1998	-	Medulloblastoma(35;0.163)		602					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Nonsense_Mutation	SNP	ENST00000333535.4	37	c.1805C>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	39	7.306943	0.98200	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	.	.	.	4.18	4.18	0.49190	.	0.309913	0.31312	N	0.007876	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6938	0.85329	0.0:0.0:1.0:0.0	.	.	.	.	X	602	.	ENSP00000328968:S602X	S	-	2	0	SCN5A	38620292	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	9.397000	0.97276	2.164000	0.68074	0.561000	0.74099	TCA		0.657	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		13	584	1	0	5.01169e-05	5.01169e-05	0.00884117	13	584				
OBSL1	23363	broad.mit.edu	37	2	220421218	220421218	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:220421218G>A	ENST00000404537.1	-	13	4350	c.4294C>T	c.(4294-4296)Cgg>Tgg	p.R1432W	OBSL1_ENST00000265317.5_Missense_Mutation_p.R331W|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000265318.4_Intron|OBSL1_ENST00000373876.1_Missense_Mutation_p.R1340W|OBSL1_ENST00000603926.1_Missense_Mutation_p.R1432W	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1432	Ig-like 12.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CTCCCTGCCCGCAAAGTCACG	0.607																																						ENST00000404537.1																			0											c.(4294-4296)Cgg>Tgg		obscurin-like 1							93.0	99.0	97.0					2																	220421218		2060	4187	6247	SO:0001583	missense	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220421218G>A	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.4294C>T	2.37:g.220421218G>A	ENSP00000385636:p.Arg1432Trp					OBSL1_ENST00000603926.1_Missense_Mutation_p.R1432W|OBSL1_ENST00000265318.4_Intron|OBSL1_ENST00000265317.5_Missense_Mutation_p.R331W|OBSL1_ENST00000373876.1_Missense_Mutation_p.R1340W	p.R1432W	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	13	4350	-		Renal(207;0.0376)	1432			Ig-like 12.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	c.4294C>T	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.807786	0.31961	.	.	ENSG00000124006	ENST00000404537;ENST00000373876;ENST00000265317	T;T;T	0.68624	-0.34;3.52;3.52	4.51	4.51	0.55191	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79269	0.4417	M	0.79926	2.475	0.09310	N	0.999997	D;D;D;D	0.89917	1.0;0.998;0.999;1.0	D;P;D;D	0.76071	0.987;0.849;0.932;0.953	T	0.69109	-0.5232	9	0.66056	D	0.02	.	5.8434	0.18647	0.0932:0.0:0.5879:0.3188	.	239;1433;1432;331	B7Z5P5;A4KVA4;O75147;E7ER99	.;.;OBSL1_HUMAN;.	W	1432;1340;331	ENSP00000385636:R1432W;ENSP00000362983:R1340W;ENSP00000265317:R331W	ENSP00000265317:R331W	R	-	1	2	OBSL1	220129462	0.925000	0.31364	0.018000	0.16275	0.049000	0.14656	1.813000	0.38962	2.347000	0.79759	0.491000	0.48974	CGG		0.607	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			8	651	0	0	0	2.17888e-05	0	8	651				
CCDC88B	283234	broad.mit.edu	37	11	64111636	64111636	+	Silent	SNP	C	C	A	rs201469975		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:64111636C>A	ENST00000356786.5	+	14	1667	c.1623C>A	c.(1621-1623)ctC>ctA	p.L541L	CCDC88B_ENST00000301897.4_5'Flank|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	541						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACTCAGTGCTCGAGGCATCAG	0.632																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1621-1623)ctC>ctA		coiled-coil domain containing 88B							60.0	66.0	64.0					11																	64111636		2201	4297	6498	SO:0001819	synonymous_variant	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64111636C>A	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.1623C>A	11.37:g.64111636C>A						CCDC88B_ENST00000463837.1_3'UTR	p.L541L	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			14	1667	+			541					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	ENST00000356786.5	37	c.1623C>A	CCDS8072.2																																																																																				0.632	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		9	517	1	0	3.86212e-05	3.86212e-05	0.00711662	9	517				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	92	0	0	0	5.01169e-05	0	17	92				
TRIM38	10475	broad.mit.edu	37	6	25972146	25972146	+	Missense_Mutation	SNP	T	T	G			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:25972146T>G	ENST00000357085.3	+	5	1033	c.557T>G	c.(556-558)cTc>cGc	p.L186R	TRIM38_ENST00000349458.3_Missense_Mutation_p.L186R	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	186					negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						TTTAAGAATCTCCAGTGTTTC	0.438																																						ENST00000357085.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						c.(556-558)cTc>cGc		tripartite motif containing 38							63.0	63.0	63.0					6																	25972146		2203	4300	6503	SO:0001583	missense	10475				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding	g.chr6:25972146T>G	U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10059	protein-coding gene	gene with protein product			"""ring finger protein 15"", ""tripartite motif-containing 38"""	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.557T>G	6.37:g.25972146T>G	ENSP00000349596:p.Leu186Arg					TRIM38_ENST00000349458.3_Missense_Mutation_p.L186R	p.L186R	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN			5	1033	+			186					B2R862	Missense_Mutation	SNP	ENST00000357085.3	37	c.557T>G	CCDS4568.1	.	.	.	.	.	.	.	.	.	.	t	8.516	0.867585	0.17250	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	T;T;T	0.07216	3.21;3.21;3.21	4.55	3.37	0.38596	.	0.000000	0.39985	N	0.001212	T	0.07999	0.0200	M	0.80746	2.51	0.09310	N	0.999999	P	0.52316	0.952	P	0.52267	0.694	T	0.16188	-1.0411	10	0.27082	T	0.32	.	7.6274	0.28220	0.1881:0.0:0.0:0.8119	.	186	O00635	TRI38_HUMAN	R	186	ENSP00000443976:L186R;ENSP00000230099:L186R;ENSP00000349596:L186R	ENSP00000230099:L186R	L	+	2	0	TRIM38	26080125	0.041000	0.20044	0.012000	0.15200	0.001000	0.01503	2.090000	0.41682	1.047000	0.40274	-0.327000	0.08410	CTC		0.438	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2			22	223	0	0	0	5.49717e-05	0	22	223				
HEBP2	23593	broad.mit.edu	37	6	138734065	138734065	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:138734065G>T	ENST00000607197.1	+	4	745	c.468G>T	c.(466-468)ttG>ttT	p.L156F	HEBP2_ENST00000448741.1_Nonstop_Mutation_p.*128L|HEBP2_ENST00000367697.3_Nonstop_Mutation_p.*117L	NM_014320.2	NP_055135.1	Q9Y5Z4	HEBP2_HUMAN	heme binding protein 2	156					negative regulation of mitochondrial membrane potential (GO:0010917)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of necrotic cell death (GO:0010940)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(32;0.0933)			GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)		AACAACTTTTGACATTAGCAA	0.353																																						ENST00000367697.3																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(349-351)tGa>tTa		heme binding protein 2							151.0	149.0	150.0					6																	138734065		2203	4300	6503	SO:0001583	missense	23593					mitochondrion		g.chr6:138734065G>T	AF117616	CCDS5191.1	6q24	2008-08-29	2002-09-23	2002-09-27	ENSG00000051620	ENSG00000051620			15716	protein-coding gene	gene with protein product		605825	"""chromosome 6 open reading frame 34"""	C6orf34		10640688, 17098234	Standard	NM_014320		Approved	SOUL	uc003qhw.1	Q9Y5Z4	OTTHUMG00000015671	ENST00000607197.1:c.468G>T	6.37:g.138734065G>T	ENSP00000475750:p.Leu156Phe					HEBP2_ENST00000607197.1_Missense_Mutation_p.L156F|HEBP2_ENST00000448741.1_Nonstop_Mutation_p.*128L	p.*117L			Q9Y5Z4	HEBP2_HUMAN		GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)	4	599	+	Breast(32;0.0933)		0					Q96P57	Nonstop_Mutation	SNP	ENST00000607197.1	37	c.350G>T	CCDS5191.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.63|15.63	2.889559|2.889559	0.52014|0.52014	.|.	.|.	ENSG00000051620|ENSG00000051620	ENST00000058691|ENST00000448741;ENST00000367697	T|.	0.22539|.	1.95|.	5.75|5.75	3.05|3.05	0.35203|0.35203	Regulatory factor, effector, bacterial (1);|.	0.628617|.	0.15795|.	N|.	0.244224|.	T|.	0.34571|.	0.0902|.	M|M	0.67953|0.67953	2.075|2.075	0.09310|0.09310	N|N	1|1	D|.	0.76494|.	0.999|.	D|.	0.65233|.	0.933|.	T|.	0.24693|.	-1.0153|.	10|.	0.56958|.	D|.	0.05|.	.|.	8.8909|8.8909	0.35432|0.35432	0.2325:0.0:0.7675:0.0|0.2325:0.0:0.7675:0.0	.|.	156|.	Q9Y5Z4|.	HEBP2_HUMAN|.	F|L	156|128;117	ENSP00000058691:L156F|.	ENSP00000058691:L156F|.	L|X	+|+	3|2	2|2	HEBP2|HEBP2	138775758|138775758	1.000000|1.000000	0.71417|0.71417	0.890000|0.890000	0.34922|0.34922	0.965000|0.965000	0.64279|0.64279	3.520000|3.520000	0.53465|0.53465	0.378000|0.378000	0.24764|0.24764	0.563000|0.563000	0.77884|0.77884	TTG|TGA		0.353	HEBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042426.2			13	500	1	0	5.01169e-05	5.01169e-05	0.00884117	13	500				
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51.0	56.0	55.0					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		10	391	0	0	0	5.50884e-06	0	10	391				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			9	244	0	0	0	1.12685e-05	0	9	244				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			7	193	0	0	0	5.18039e-06	0	7	193				
TNXB	7148	broad.mit.edu	37	6	32049954	32049954	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:32049954G>A	ENST00000375244.3	-	9	3796	c.3595C>T	c.(3595-3597)Cgg>Tgg	p.R1199W	TNXB_ENST00000375247.2_Missense_Mutation_p.R1199W			P22105	TENX_HUMAN	tenascin XB	1286	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACCTGGGGCCGTCCATCCCTG	0.562																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(3595-3597)Cgg>Tgg		tenascin XB							45.0	40.0	42.0					6																	32049954		1266	2540	3806	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32049954G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.3595C>T	6.37:g.32049954G>A	ENSP00000364393:p.Arg1199Trp					TNXB_ENST00000375247.2_Missense_Mutation_p.R1199W	p.R1199W			P22105	TENX_HUMAN			9	3796	-			1286			Fibronectin type-III 4.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.3595C>T		.	.	.	.	.	.	.	.	.	.	G	17.01	3.278036	0.59758	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57273	0.41;0.41	4.74	4.74	0.60224	.	0.905187	0.09249	N	0.828076	T	0.53867	0.1823	M	0.61703	1.905	0.09310	N	1	D	0.64830	0.994	P	0.61397	0.888	T	0.41698	-0.9494	10	0.39692	T	0.17	.	10.3406	0.43875	0.0:0.0:0.804:0.196	.	1199	P22105-3	.	W	1199	ENSP00000364393:R1199W;ENSP00000364396:R1199W	ENSP00000364393:R1199W	R	-	1	2	TNXB	32157932	0.003000	0.15002	0.035000	0.18076	0.930000	0.56654	1.320000	0.33666	2.461000	0.83175	0.407000	0.27541	CGG		0.562	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		43	129	0	0	0	1.13552e-05	0	43	129				
PDCD11	22984	broad.mit.edu	37	10	105203711	105203711	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr10:105203711C>A	ENST00000369797.3	+	34	5258	c.5164C>A	c.(5164-5166)Cgg>Agg	p.R1722R		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1722					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GAAGCGTTTCCGGCAGGAGAA	0.587																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(5164-5166)Cgg>Agg		programmed cell death 11							93.0	92.0	92.0					10																	105203711		2203	4300	6503	SO:0001819	synonymous_variant	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105203711C>A	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.5164C>A	10.37:g.105203711C>A							p.R1722R	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	34	5258	+		Colorectal(252;0.0747)|Breast(234;0.128)	1722					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP	ENST00000369797.3	37	c.5164C>A	CCDS31276.1																																																																																				0.587	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			10	646	1	0	3.07112e-06	3.07112e-06	0.000789711	10	646				
ATAD2	29028	broad.mit.edu	37	8	124348766	124348766	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr8:124348766C>A	ENST00000287394.5	-	22	3165	c.3058G>T	c.(3058-3060)Gat>Tat	p.D1020Y	ATAD2_ENST00000521903.1_Missense_Mutation_p.D338Y	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1020	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GTGACATAATCAGGAACCTAA	0.328																																						ENST00000287394.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(3058-3060)Gat>Tat		ATPase family, AAA domain containing 2							100.0	94.0	96.0					8																	124348766		2203	4299	6502	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124348766C>A	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.3058G>T	8.37:g.124348766C>A	ENSP00000287394:p.Asp1020Tyr					ATAD2_ENST00000521903.1_Missense_Mutation_p.D338Y	p.D1020Y	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		22	3165	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		1020			Bromo.		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.3058G>T	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874991	0.91664	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	T;T	0.28069	1.63;1.63	5.89	5.89	0.94794	Bromodomain (6);	0.000000	0.85682	D	0.000000	T	0.74989	0.3789	H	0.98802	4.335	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85104	0.0959	10	0.87932	D	0	-27.9514	20.2576	0.98430	0.0:1.0:0.0:0.0	.	1020	Q6PL18	ATAD2_HUMAN	Y	1020;338	ENSP00000287394:D1020Y;ENSP00000429213:D338Y	ENSP00000287394:D1020Y	D	-	1	0	ATAD2	124417947	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.541000	0.82084	2.783000	0.95769	0.655000	0.94253	GAT		0.328	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		21	761	1	0	4.4004e-07	5.49717e-05	0.00012363	21	761				
ZNF493	284443	broad.mit.edu	37	19	21606712	21606712	+	Silent	SNP	T	T	C			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:21606712T>C	ENST00000355504.4	+	2	1133	c.867T>C	c.(865-867)tcT>tcC	p.S289S	ZNF493_ENST00000392288.2_Silent_p.S417S|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	289					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATAAGGAGTCTTCACACCTTA	0.348																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1249-1251)tcT>tcC		zinc finger protein 493							34.0	37.0	36.0					19																	21606712		2198	4293	6491	SO:0001819	synonymous_variant	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606712T>C	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.867T>C	19.37:g.21606712T>C						CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.S289S	p.S417S	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	1360	+			289					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Silent	SNP	ENST00000355504.4	37	c.1251T>C	CCDS12412.1																																																																																				0.348	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		7	348	0	0	0	1.12685e-05	0	7	348				
BTAF1	9044	broad.mit.edu	37	10	93786913	93786913	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr10:93786913G>T	ENST00000265990.6	+	37	5570	c.5262G>T	c.(5260-5262)ttG>ttT	p.L1754F	BTAF1_ENST00000544642.1_Missense_Mutation_p.L582F	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1754	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TATACCGATTGATAACCAGAG	0.378																																						ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(5260-5262)ttG>ttT		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							108.0	108.0	108.0					10																	93786913		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93786913G>T	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.5262G>T	10.37:g.93786913G>T	ENSP00000265990:p.Leu1754Phe					BTAF1_ENST00000544642.1_Missense_Mutation_p.L582F	p.L1754F	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN			37	5570	+		Colorectal(252;0.0846)	1754			Helicase C-terminal.		B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.5262G>T	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857996	0.71834	.	.	ENSG00000095564	ENST00000265990;ENST00000544642;ENST00000538688	T;T	0.79033	-1.23;-1.23	5.52	2.63	0.31362	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.81754	0.4889	L	0.49350	1.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80139	-0.1507	10	0.62326	D	0.03	-8.1932	7.3657	0.26772	0.2012:0.1222:0.6766:0.0	.	1754	O14981	BTAF1_HUMAN	F	1754;582;604	ENSP00000265990:L1754F;ENSP00000439924:L582F	ENSP00000265990:L1754F	L	+	3	2	BTAF1	93776893	1.000000	0.71417	0.997000	0.53966	0.914000	0.54420	2.707000	0.47143	0.814000	0.34374	0.561000	0.74099	TTG		0.378	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		68	373	1	0	7.33394e-39	2.47226e-05	2.30205e-36	68	373				
KRT20	54474	broad.mit.edu	37	17	39034482	39034482	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:39034482C>A	ENST00000167588.3	-	6	1095	c.1054G>T	c.(1054-1056)Gaa>Taa	p.E352*		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	352	Coil 2.|Rod.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				ATATGGTATTCGTTGTTCTGG	0.493																																						ENST00000167588.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14						c.(1054-1056)Gaa>Taa		keratin 20							275.0	229.0	245.0					17																	39034482		2203	4300	6503	SO:0001587	stop_gained	54474				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39034482C>A	BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.1054G>T	17.37:g.39034482C>A	ENSP00000167588:p.Glu352*						p.E352*	NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN			6	1095	-		Breast(137;0.000301)|Ovarian(249;0.15)	352			Coil 2.|Rod.		B2R6W7	Nonsense_Mutation	SNP	ENST00000167588.3	37	c.1054G>T	CCDS11379.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280293	0.80692	.	.	ENSG00000171431	ENST00000167588	.	.	.	5.0	3.96	0.45880	.	0.095097	0.45361	D	0.000366	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.7896	0.69830	0.0:0.8551:0.1449:0.0	.	.	.	.	X	352	.	ENSP00000167588:E352X	E	-	1	0	KRT20	36288008	1.000000	0.71417	0.042000	0.18584	0.018000	0.09664	4.686000	0.61700	2.310000	0.77875	0.591000	0.81541	GAA		0.493	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257202.2			9	814	1	0	2.17888e-05	2.17888e-05	0.00444706	9	814				
ZNF772	400720	broad.mit.edu	37	19	57985561	57985561	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:57985561C>T	ENST00000343280.4	-	5	811	c.551G>A	c.(550-552)aGt>aAt	p.S184N	ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000601768.1_Intron|AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.S72N|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000356584.3_Missense_Mutation_p.S143N	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	184					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)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		AAGGTTTGCACTGAAGCAGAA	0.483																																					Melanoma(5;289 436 14293 15924 30817)	ENST00000343280.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9						c.(550-552)aGt>aAt		zinc finger protein 772							118.0	103.0	108.0					19																	57985561		2203	4300	6503	SO:0001583	missense	400720				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57985561C>T	BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"""Zinc fingers, C2H2-type"", ""-"""	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.551G>A	19.37:g.57985561C>T	ENSP00000341165:p.Ser184Asn					ZNF772_ENST00000601768.1_Intron|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000356584.3_Missense_Mutation_p.S143N|ZNF772_ENST00000425074.3_3'UTR|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.S72N	p.S184N	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)	5	811	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	184					A6NJK9|B4DH56|B4DYS0	Missense_Mutation	SNP	ENST00000343280.4	37	c.551G>A	CCDS33133.1	.	.	.	.	.	.	.	.	.	.	C	6.499	0.460340	0.12342	.	.	ENSG00000197128	ENST00000343280;ENST00000427512;ENST00000319969;ENST00000356584;ENST00000291809	T;T;T	0.10477	2.87;2.87;2.87	3.99	-3.85	0.04243	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04182	0.0116	N	0.11560	0.145	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.40794	-0.9544	9	0.37606	T	0.19	.	2.2791	0.04110	0.1337:0.3595:0.3269:0.1799	.	72;143;184	Q68DY9-2;A6NJK9;Q68DY9	.;.;ZN772_HUMAN	N	184;72;130;143;109	ENSP00000341165:S184N;ENSP00000395967:S72N;ENSP00000348992:S143N	ENSP00000291809:S109N	S	-	2	0	ZNF772	62677373	0.000000	0.05858	0.000000	0.03702	0.422000	0.31414	-3.962000	0.00324	-0.300000	0.08895	-0.479000	0.04858	AGT		0.483	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397447.1	NM_001024596		40	508	0	0	0	5.1965e-05	0	40	508				
IGKV1D-42	28892	broad.mit.edu	37	2	90229521	90229521	+	RNA	SNP	T	T	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:90229521T>A	ENST00000390278.2	+	0	361									immunoglobulin kappa variable 1D-42 (non-functional)																		AAACAGGACTTCAGTTACCCT	0.498																																						ENST00000390278.2																			0																				52.0	54.0	53.0					2																	90229521		1863	4088	5951			0							g.chr2:90229521T>A	X72816		2p11.2	2012-02-08	2008-09-09		ENSG00000211633	ENSG00000211633		"""Immunoglobulins / IGK locus"""	5757	other	immunoglobulin gene			"""immunoglobulin kappa variable 1D-42"""				Standard	NG_000833		Approved				OTTHUMG00000151573		2.37:g.90229521T>A														0	361	+									RNA	SNP	ENST00000390278.2	37																																																																																						0.498	IGKV1D-42-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323148.1	NG_000833		43	262	0	0	0	2.05139e-05	0	43	262				
TGDS	23483	broad.mit.edu	37	13	95246123	95246123	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr13:95246123G>T	ENST00000261296.5	-	2	245	c.125C>A	c.(124-126)cCa>cAa	p.P42Q	TGDS_ENST00000498294.1_5'UTR	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	42					nucleotide-sugar metabolic process (GO:0009225)		coenzyme binding (GO:0050662)|dTDP-glucose 4,6-dehydratase activity (GO:0008460)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					CATATAGTTTGGATAATCTTC	0.274																																						ENST00000261296.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(124-126)cCa>cAa		TDP-glucose 4,6-dehydratase							103.0	108.0	107.0					13																	95246123		2200	4281	6481	SO:0001583	missense	23483				cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding	g.chr13:95246123G>T	AF048686	CCDS9471.1	13q32.1	2012-02-22			ENSG00000088451	ENSG00000088451	4.2.1.46	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	20324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 2E, member 1"""					19027726	Standard	NM_014305		Approved	TDPGD, SDR2E1	uc001vlw.3	O95455	OTTHUMG00000046308	ENST00000261296.5:c.125C>A	13.37:g.95246123G>T	ENSP00000261296:p.Pro42Gln					TGDS_ENST00000498294.1_5'UTR	p.P42Q	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN			2	245	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		42					Q05DQ3|Q2TU31|Q5T3Z2|Q9H1T9	Missense_Mutation	SNP	ENST00000261296.5	37	c.125C>A	CCDS9471.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204314	0.79127	.	.	ENSG00000088451	ENST00000261296	D	0.93019	-3.15	5.67	5.67	0.87782	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.116101	0.64402	D	0.000014	D	0.96959	0.9007	M	0.88181	2.935	0.54753	D	0.999986	D	0.89917	1.0	D	0.91635	0.999	D	0.95736	0.8779	10	0.21014	T	0.42	.	17.5515	0.87878	0.0:0.0:1.0:0.0	.	42	O95455	TGDS_HUMAN	Q	42	ENSP00000261296:P42Q	ENSP00000261296:P42Q	P	-	2	0	TGDS	94044124	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.419000	0.59835	2.658000	0.90341	0.591000	0.81541	CCA		0.274	TGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106904.2	NM_014305		22	1087	1	0	3.45872e-05	3.45872e-05	0.00669873	22	1087				
NT5C1B	93034	broad.mit.edu	37	2	18766145	18766145	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:18766145G>T	ENST00000359846.2	-	5	615	c.538C>A	c.(538-540)Ccc>Acc	p.P180T	NT5C1B_ENST00000460052.1_5'Flank|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000600945.1_Missense_Mutation_p.P180T|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.P180T|NT5C1B_ENST00000304081.4_Missense_Mutation_p.P120T	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	180	Pro-rich.				nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GGCGACGCGGGTGGCTGGAGC	0.716																																						ENST00000304081.4																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29						c.(358-360)Ccc>Acc		5'-nucleotidase, cytosolic IB							11.0	17.0	15.0					2																	18766145		2123	4096	6219	SO:0001583	missense	93034							g.chr2:18766145G>T	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.538C>A	2.37:g.18766145G>T	ENSP00000352904:p.Pro180Thr					NT5C1B_ENST00000359846.2_Missense_Mutation_p.P180T|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.P180T|NT5C1B_ENST00000600945.1_Missense_Mutation_p.P180T	p.P120T	NM_033253.3	NP_150278.2					4	458	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)						B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	c.358C>A	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	G	6.708	0.499307	0.12762	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846;ENST00000416783	D	0.88741	-2.42	4.15	-7.42	0.01388	.	0.927161	0.08933	N	0.872669	T	0.69797	0.3151	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B;B;B;B	0.12630	0.001;0.006;0.002;0.001;0.001;0.003;0.006;0.003	B;B;B;B;B;B;B;B	0.10450	0.001;0.003;0.001;0.001;0.001;0.005;0.003;0.005	T	0.57329	-0.7830	10	0.31617	T	0.26	-32.7382	0.5312	0.00629	0.3185:0.1133:0.2234:0.3448	.	163;197;120;163;122;120;180;180	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;5NT1B_HUMAN;.	T	180;122;120;180;197	ENSP00000412639:P122T	ENSP00000305979:P120T	P	-	1	0	NT5C1B-RDH14;NT5C1B	18629626	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.508000	0.06344	-1.893000	0.01106	-1.119000	0.02030	CCC		0.716	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			9	84	1	0	2.17888e-05	2.17888e-05	0.00444706	9	84				
UGT3A2	167127	broad.mit.edu	37	5	36066823	36066823	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:36066823G>T	ENST00000282507.3	-	1	170	c.69C>A	c.(67-69)gcC>gcA	p.A23A	UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000513300.1_Silent_p.A23A|UGT3A2_ENST00000504954.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	23					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCAGGATTTTGGCAGCCTCTG	0.592																																						ENST00000282507.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43						c.(67-69)gcC>gcA		UDP glycosyltransferase 3 family, polypeptide A2							144.0	150.0	148.0					5																	36066823		2203	4300	6503	SO:0001819	synonymous_variant	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36066823G>T		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.69C>A	5.37:g.36066823G>T						UGT3A2_ENST00000513300.1_Silent_p.A23A|UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000504954.1_Intron	p.A23A	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		1	170	-	all_lung(31;0.000179)		23					B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Silent	SNP	ENST00000282507.3	37	c.69C>A	CCDS3914.1																																																																																				0.592	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		13	786	1	0	5.01169e-05	5.01169e-05	0.00884117	13	786				
TUBBP5	643224	broad.mit.edu	37	9	141070111	141070111	+	RNA	SNP	T	T	C	rs139643347		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:141070111T>C	ENST00000503395.1	+	0	1191									tubulin, beta pseudogene 5									p.S75S(1)									CCATGGACTCTGTGCGCTCGG	0.697																																						ENST00000503395.1																			1	Substitution - coding silent(1)	p.S75S(1)	prostate(1)																																																0							g.chr9:141070111T>C	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070111T>C														0	1191	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.697	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		6	334	0	0	0	2.17888e-05	0	6	334				
LY75	4065	broad.mit.edu	37	2	160667045	160667045	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:160667045G>T	ENST00000263636.4	-	32	4718	c.4691C>A	c.(4690-4692)tCa>tAa	p.S1564*	LY75_ENST00000554112.1_Nonsense_Mutation_p.S1564*|LY75_ENST00000553424.1_Nonsense_Mutation_p.S1564*|LY75-CD302_ENST00000505052.1_Nonsense_Mutation_p.S1564*|LY75-CD302_ENST00000504764.1_Nonsense_Mutation_p.S1564*	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1564	C-type lectin 10. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ACCATGTTTTGAACACAATTT	0.338																																						ENST00000263636.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(4690-4692)tCa>tAa		lymphocyte antigen 75							140.0	148.0	146.0					2																	160667045		2203	4300	6503	SO:0001587	stop_gained	4065							g.chr2:160667045G>T	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.4691C>A	2.37:g.160667045G>T	ENSP00000263636:p.Ser1564*					LY75-CD302_ENST00000504764.1_Nonsense_Mutation_p.S1564*|LY75_ENST00000553424.1_Nonsense_Mutation_p.S1564*|LY75_ENST00000554112.1_Nonsense_Mutation_p.S1564*|LY75-CD302_ENST00000505052.1_Nonsense_Mutation_p.S1564*	p.S1564*	NM_002349.3	NP_002340.2				COAD - Colon adenocarcinoma(177;0.132)	32	4718	-								O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Nonsense_Mutation	SNP	ENST00000263636.4	37	c.4691C>A	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	G	37	6.470570	0.97594	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	.	.	.	4.91	0.506	0.16961	.	1.146100	0.07019	U	0.826519	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	3.6309	3.151	0.06488	0.0904:0.125:0.3384:0.4462	.	.	.	.	X	1564	.	ENSP00000423463:S1564X	S	-	2	0	LY75;LY75-CD302	160375291	0.054000	0.20591	0.013000	0.15412	0.112000	0.19704	0.597000	0.24059	0.166000	0.19597	0.491000	0.48974	TCA		0.338	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			14	641	1	0	9.31168e-06	9.31168e-06	0.00207751	14	641				
HYDIN	54768	broad.mit.edu	37	16	70843895	70843895	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr16:70843895C>A	ENST00000393567.2	-	85	14824	c.14674G>T	c.(14674-14676)Gaa>Taa	p.E4892*		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4892					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGCTGAAATTCAAATGAGAAC	0.483																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(14674-14676)Gaa>Taa		HYDIN, axonemal central pair apparatus protein							188.0	194.0	192.0					16																	70843895		1938	4135	6073	SO:0001587	stop_gained	54768							g.chr16:70843895C>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.14674G>T	16.37:g.70843895C>A	ENSP00000377197:p.Glu4892*						p.E4892*	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			85	14824	-		Ovarian(137;0.0654)	4892					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Nonsense_Mutation	SNP	ENST00000393567.2	37	c.14674G>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	56	26.157347	0.99968	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	.	.	.	6.08	6.08	0.98989	.	0.000000	0.31797	U	0.007056	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	20.2585	0.98435	0.0:1.0:0.0:0.0	.	.	.	.	X	4892;4891	.	ENSP00000313052:E4891X	E	-	1	0	HYDIN	69401396	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.302000	0.78861	2.894000	0.99253	0.655000	0.94253	GAA		0.483	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			29	814	1	0	5.52252e-06	4.66903e-05	0.00130912	29	814				
C22orf23	84645	broad.mit.edu	37	22	38343336	38343336	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:38343336G>T	ENST00000249079.2	-	4	557	c.301C>A	c.(301-303)Caa>Aaa	p.Q101K	C22orf23_ENST00000403026.1_Missense_Mutation_p.Q101K|C22orf23_ENST00000403305.1_Missense_Mutation_p.Q101K			Q9BZE7	EVG1_HUMAN	chromosome 22 open reading frame 23	101										endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					CCATTGGCTTGACACATGTTG	0.597																																						ENST00000249079.2																			0				endometrium(3)|kidney(2)|large_intestine(7)	12						c.(301-303)Caa>Aaa		chromosome 22 open reading frame 23							107.0	95.0	99.0					22																	38343336		2203	4300	6503	SO:0001583	missense	84645							g.chr22:38343336G>T	AF324466	CCDS13962.1, CCDS74860.1	22q13.1	2013-10-11			ENSG00000128346	ENSG00000128346			18589	protein-coding gene	gene with protein product						11237012	Standard	NM_032561		Approved	FLJ32787, EVG1, LOC84645	uc003auj.2	Q9BZE7	OTTHUMG00000150672	ENST00000249079.2:c.301C>A	22.37:g.38343336G>T	ENSP00000249079:p.Gln101Lys					C22orf23_ENST00000403305.1_Missense_Mutation_p.Q101K|C22orf23_ENST00000403026.1_Missense_Mutation_p.Q101K	p.Q101K			Q9BZE7	EVG1_HUMAN			4	557	-	Melanoma(58;0.045)		101					Q5JYU9|Q96M68	Missense_Mutation	SNP	ENST00000249079.2	37	c.301C>A	CCDS13962.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.240528	0.39598	.	.	ENSG00000128346	ENST00000403305;ENST00000249079;ENST00000403026;ENST00000418863;ENST00000422191	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	5.38	5.38	0.77491	.	0.060861	0.64402	D	0.000005	T	0.56659	0.2000	M	0.67953	2.075	0.36778	D	0.884186	D	0.56968	0.978	P	0.54499	0.754	T	0.64478	-0.6398	10	0.48119	T	0.1	-15.7245	17.308	0.87200	0.0:0.0:1.0:0.0	.	101	Q9BZE7	EVG1_HUMAN	K	101	ENSP00000384667:Q101K;ENSP00000249079:Q101K;ENSP00000384618:Q101K;ENSP00000395077:Q101K;ENSP00000407707:Q101K	ENSP00000249079:Q101K	Q	-	1	0	C22orf23	36673282	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.719000	0.68462	2.504000	0.84457	0.555000	0.69702	CAA		0.597	C22orf23-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319564.1	NM_032561		15	535	1	0	4.72057e-08	7.33532e-06	1.38614e-05	15	535				
MAMDC2	256691	broad.mit.edu	37	9	72785470	72785470	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:72785470G>A	ENST00000377182.4	+	11	2191	c.1574G>A	c.(1573-1575)cGg>cAg	p.R525Q	MAMDC2-AS1_ENST00000591368.1_RNA|MAMDC2_ENST00000460688.1_3'UTR|MAMDC2-AS1_ENST00000377178.3_RNA|MAMDC2-AS1_ENST00000535188.1_RNA|MAMDC2-AS1_ENST00000420573.1_RNA|MAMDC2-AS1_ENST00000448377.3_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	525	MAM 4. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						AAAAGAAACCGGAGCAGCTGG	0.498																																						ENST00000377182.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.(1573-1575)cGg>cAg		MAM domain containing 2							80.0	76.0	78.0					9																	72785470		2203	4300	6503	SO:0001583	missense	256691					endoplasmic reticulum|membrane		g.chr9:72785470G>A	BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.1574G>A	9.37:g.72785470G>A	ENSP00000366387:p.Arg525Gln					MAMDC2_ENST00000460688.1_3'UTR|MAMDC2-AS1_ENST00000377178.3_RNA|MAMDC2-AS1_ENST00000591368.1_RNA|MAMDC2-AS1_ENST00000535188.1_RNA|MAMDC2-AS1_ENST00000448377.3_RNA	p.R525Q	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN			11	2191	+			525			MAM 4.		Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	ENST00000377182.4	37	c.1574G>A	CCDS6631.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995045	0.74703	.	.	ENSG00000165072	ENST00000377182	T	0.01963	4.53	5.25	4.33	0.51752	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.500904	0.21233	N	0.077953	T	0.02767	0.0083	N	0.16478	0.41	0.43118	D	0.994837	P	0.40602	0.723	B	0.44315	0.446	T	0.67799	-0.5577	10	0.25106	T	0.35	-12.7011	15.9892	0.80188	0.0:0.1352:0.8648:0.0	.	525	Q7Z304	MAMC2_HUMAN	Q	525	ENSP00000366387:R525Q	ENSP00000366387:R525Q	R	+	2	0	MAMDC2	71975290	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.458000	0.66679	1.297000	0.44761	0.491000	0.48974	CGG		0.498	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	NM_153267		6	381	0	0	0	2.0095e-06	0	6	381				
MYO5B	4645	broad.mit.edu	37	18	47363917	47363917	+	Missense_Mutation	SNP	A	A	G	rs138128932	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr18:47363917A>G	ENST00000285039.7	-	37	5407	c.5108T>C	c.(5107-5109)gTc>gCc	p.V1703A	MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A|MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A|SCARNA17_ENST00000589499.1_RNA	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1703	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.V1703A(5)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCAAGAGCAGACGTCCTTCCG	0.527																																						ENST00000285039.7																			5	Substitution - Missense(5)	p.V1703A(5)	endometrium(2)|kidney(2)|lung(1)	NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(5107-5109)gTc>gCc		myosin VB							70.0	68.0	69.0					18																	47363917		2027	4186	6213	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47363917A>G	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.5108T>C	18.37:g.47363917A>G	ENSP00000285039:p.Val1703Ala					MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A	p.V1703A	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	37	5407	-			1703			Dilute.		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.5108T>C	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.542024	0.45280	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	D;T	0.86432	-2.12;2.51	4.77	0.996	0.19844	Dilute (1);Dil domain (1);	0.146358	0.45126	N	0.000396	T	0.78534	0.4298	L	0.40543	1.245	0.36910	D	0.890859	B;B	0.13145	0.001;0.007	B;B	0.21708	0.012;0.036	T	0.66284	-0.5962	10	0.19147	T	0.46	.	8.6034	0.33758	0.7815:0.0:0.2185:0.0	.	1703;818	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	A	1703;818	ENSP00000285039:V1703A;ENSP00000315531:V818A	ENSP00000285039:V1703A	V	-	2	0	MYO5B	45617915	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.310000	0.59141	0.082000	0.17018	0.482000	0.46254	GTC		0.527	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			7	193	0	0	0	5.50884e-06	0	7	193				
LRRC37A6P	387646	broad.mit.edu	37	10	27535836	27535836	+	lincRNA	SNP	T	T	C			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr10:27535836T>C	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							GGCCCTAAGTTGAATGCAGTC	0.453																																						ENST00000574842.1																			0																																																			0							g.chr10:27535836T>C																													10.37:g.27535836T>C														0	255	+									RNA	SNP	ENST00000574842.1	37																																																																																						0.453	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1			30	275	0	0	0	2.90539e-05	0	30	275				
GFRAL	389400	broad.mit.edu	37	6	55216353	55216353	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:55216353C>T	ENST00000340465.2	+	5	759	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	225					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CAGTGTAATTCGCAGCTGCCA	0.428																																						ENST00000340465.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48						c.(673-675)Cgc>Tgc		GDNF family receptor alpha like							64.0	65.0	65.0					6																	55216353		2203	4300	6503	SO:0001583	missense	389400					integral to membrane	receptor activity	g.chr6:55216353C>T	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.673C>T	6.37:g.55216353C>T	ENSP00000343636:p.Arg225Cys						p.R225C	NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		5	759	+	Lung NSC(77;0.0875)|Renal(3;0.122)		225					Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	c.673C>T	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588449	0.86851	.	.	ENSG00000187871	ENST00000340465	T	0.64991	-0.13	6.05	6.05	0.98169	GDNF/GAS1 (2);	0.376195	0.29424	N	0.012190	T	0.62551	0.2437	L	0.34521	1.04	0.43014	D	0.994552	D	0.67145	0.996	P	0.56788	0.806	T	0.64084	-0.6490	10	0.62326	D	0.03	-2.3631	20.6087	0.99469	0.0:1.0:0.0:0.0	.	225	Q6UXV0	GFRAL_HUMAN	C	225	ENSP00000343636:R225C	ENSP00000343636:R225C	R	+	1	0	GFRAL	55324312	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	3.954000	0.56708	2.866000	0.98385	0.650000	0.86243	CGC		0.428	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		17	241	0	0	0	5.3912e-06	0	17	241				
RABGAP1	23637	broad.mit.edu	37	9	125835869	125835869	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:125835869C>A	ENST00000373647.4	+	16	2156	c.2022C>A	c.(2020-2022)atC>atA	p.I674I	RABGAP1_ENST00000493854.1_3'UTR|RABGAP1_ENST00000373643.5_Silent_p.I13I	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	674	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TGGTCAAGATCATGTTTGACT	0.438																																						ENST00000373647.4																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(2020-2022)atC>atA		RAB GTPase activating protein 1							171.0	162.0	165.0					9																	125835869		2203	4300	6503	SO:0001819	synonymous_variant	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125835869C>A	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.2022C>A	9.37:g.125835869C>A						RABGAP1_ENST00000373643.5_Silent_p.I13I|RABGAP1_ENST00000493854.1_3'UTR	p.I674I	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN			16	2156	+			674			Rab-GAP TBC.		B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Silent	SNP	ENST00000373647.4	37	c.2022C>A	CCDS6848.2																																																																																				0.438	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		18	982	1	0	2.31682e-05	2.31682e-05	0.00456484	18	982				
TUBA8	51807	broad.mit.edu	37	22	18606952	18606952	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:18606952C>T	ENST00000330423.3	+	3	329	c.256C>T	c.(256-258)Ctc>Ttc	p.L86F	TUBA8_ENST00000316027.6_Missense_Mutation_p.L20F	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	86					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CTACCGCCAGCTCTTCCATCC	0.582																																						ENST00000330423.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						c.(256-258)Ctc>Ttc		tubulin, alpha 8							65.0	60.0	62.0					22																	18606952		2203	4300	6503	SO:0001583	missense	51807				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr22:18606952C>T	AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"""Tubulins"""	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.256C>T	22.37:g.18606952C>T	ENSP00000333326:p.Leu86Phe					TUBA8_ENST00000316027.6_Missense_Mutation_p.L20F	p.L86F	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN			3	329	+			86					B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	ENST00000330423.3	37	c.256C>T	CCDS13751.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.565399	0.65651	.	.	ENSG00000183785	ENST00000426208;ENST00000316027;ENST00000330423;ENST00000416740	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	5.11	5.11	0.69529	Tubulin/FtsZ, GTPase domain (4);	0.065611	0.64402	N	0.000012	D	0.88599	0.6480	H	0.95224	3.64	0.54753	D	0.999981	P;D;P	0.76494	0.767;0.999;0.767	B;D;B	0.67103	0.356;0.949;0.36	D	0.91998	0.5608	10	0.87932	D	0	.	17.8832	0.88846	0.0:1.0:0.0:0.0	.	110;86;85	C9J2C0;Q9NY65;Q7Z3M3	.;TBA8_HUMAN;.	F	20;20;86;110	ENSP00000407624:L20F;ENSP00000318575:L20F;ENSP00000333326:L86F;ENSP00000412646:L110F	ENSP00000318575:L20F	L	+	1	0	TUBA8	16986952	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.554000	0.86153	0.462000	0.41574	CTC		0.582	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	NM_018943		15	160	0	0	0	2.31682e-05	0	15	160				
ZNF280A	129025	broad.mit.edu	37	22	22868515	22868515	+	Silent	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:22868515C>T	ENST00000302097.3	-	2	1692	c.1440G>A	c.(1438-1440)ccG>ccA	p.P480P		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	480					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GCAGTTGCTCCGGCTTTTTAA	0.443																																						ENST00000302097.3																			0				endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18						c.(1438-1440)ccG>ccA		zinc finger protein 280A							133.0	118.0	123.0					22																	22868515		2203	4300	6503	SO:0001819	synonymous_variant	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22868515C>T	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.1440G>A	22.37:g.22868515C>T							p.P480P	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	1692	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	480						Silent	SNP	ENST00000302097.3	37	c.1440G>A	CCDS13800.1																																																																																				0.443	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		53	511	0	0	0	2.47226e-05	0	53	511				
RITA1	84934	broad.mit.edu	37	12	113624632	113624632	+	Silent	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:113624632C>T	ENST00000548278.1	+	3	773	c.81C>T	c.(79-81)gtC>gtT	p.V27V	C12orf52_ENST00000552495.1_Silent_p.V51V|DDX54_ENST00000306014.5_5'Flank|RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000549621.1_Silent_p.V27V|DDX54_ENST00000314045.7_5'Flank	NM_032848.1	NP_116237.1	Q96K30	RITA1_HUMAN		27					negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|nuclear export (GO:0051168)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	tubulin binding (GO:0015631)			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						GCTACCGGGTCAAGGCCAGGA	0.652																																						ENST00000548278.1																			0				large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						c.(79-81)gtC>gtT		chromosome 12 open reading frame 52							51.0	46.0	48.0					12																	113624632		2203	4300	6503	SO:0001819	synonymous_variant	84934				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding	g.chr12:113624632C>T																												ENST00000548278.1:c.81C>T	12.37:g.113624632C>T						C12orf52_ENST00000549621.1_Silent_p.V27V|RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000552495.1_Silent_p.V51V	p.V27V	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN			3	773	+			27					B3KVZ4|C9JIN1|F8VRG5|Q53GM3|Q96K25	Silent	SNP	ENST00000548278.1	37	c.81C>T	CCDS9166.1																																																																																				0.652	C12orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405239.1			27	114	0	0	0	1.7367e-05	0	27	114				
BCRP7	100133163	broad.mit.edu	37	22	18846098	18846098	+	3'UTR	SNP	G	G	A	rs9306211	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:18846098G>A	ENST00000412938.1	+	0	3456																											ATGCCTCGGCGCTCGATCTCC	0.622																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846098G>A																												ENST00000412938.1:c.*3453G>A	22.37:g.18846098G>A														0	3456	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.622	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			10	127	0	0	0	2.31682e-05	0	10	127				
DIMT1	27292	broad.mit.edu	37	5	61699154	61699154	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:61699154C>A	ENST00000199320.4	-	2	259	c.99G>T	c.(97-99)ggG>ggT	p.G33G	DIMT1_ENST00000506390.1_Silent_p.G33G|KIF2A_ENST00000509663.2_Intron	NM_014473.2	NP_055288.1	Q9UNQ2	DIM1_HUMAN	DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)	33						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity (GO:0052909)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)										GCTGCCCAATCCCCGTGTTGA	0.388																																						ENST00000199320.4																			0											c.(97-99)ggG>ggT		DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)							146.0	140.0	142.0					5																	61699154		2203	4300	6503	SO:0001819	synonymous_variant	27292					nucleolus	RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr5:61699154C>A	AF102147	CCDS3981.1	5q12.1	2011-08-11	2011-08-11	2011-08-11	ENSG00000086189	ENSG00000086189			30217	protein-coding gene	gene with protein product		612499	"""DIM1 dimethyladenosine transferase 1-like (S. cerevisiae)"""	DIMT1L		11124703	Standard	NM_014473		Approved	HSA9761	uc003jta.3	Q9UNQ2	OTTHUMG00000131223	ENST00000199320.4:c.99G>T	5.37:g.61699154C>A						KIF2A_ENST00000509663.2_Intron|DIMT1_ENST00000506390.1_Silent_p.G33G	p.G33G	NM_014473.2	NP_055288.1	Q9UNQ2	DIMT1_HUMAN			2	259	-			33					O76025|Q9BU77|Q9UES1	Silent	SNP	ENST00000199320.4	37	c.99G>T	CCDS3981.1																																																																																				0.388	DIMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253967.1	NM_014473		64	383	1	0	3.83939e-23	2.47226e-05	1.19689e-20	64	383				
HTR2A	3356	broad.mit.edu	37	13	47409499	47409499	+	Missense_Mutation	SNP	G	G	A	rs376305063		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr13:47409499G>A	ENST00000378688.4	-	3	1020	c.889C>T	c.(889-891)Cgg>Tgg	p.R297W	HTR2A_ENST00000543956.1_Missense_Mutation_p.R213W|HTR2A_ENST00000542664.1_Missense_Mutation_p.R297W			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	297					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGGATCGACCGCTGGAAGAGC	0.502																																						ENST00000378688.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(889-891)Cgg>Tgg		5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	85.0	76.0	79.0		889,637	0.5	1.0	13		79	0,8600	1.2+/-3.3	0,0,4300	no	missense,missense	HTR2A	NM_000621.3,NM_001165947.1	101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	297/472,213/388	47409499	1,13005	2203	4300	6503	SO:0001583	missense	3356				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	g.chr13:47409499G>A	X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.889C>T	13.37:g.47409499G>A	ENSP00000367959:p.Arg297Trp					HTR2A_ENST00000543956.1_Missense_Mutation_p.R213W|HTR2A_ENST00000542664.1_Missense_Mutation_p.R297W	p.R297W			P28223	5HT2A_HUMAN		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	3	1020	-		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)	297					B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	ENST00000378688.4	37	c.889C>T	CCDS9405.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180129	0.57800	2.27E-4	0.0	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.63417	0.27;-0.04;0.27	5.78	0.475	0.16774	GPCR, rhodopsin-like superfamily (1);	0.124540	0.53938	D	0.000048	T	0.81536	0.4843	M	0.91872	3.25	0.45477	D	0.998448	D;D	0.89917	0.999;1.0	D;D	0.74348	0.94;0.983	D	0.84763	0.0763	10	0.62326	D	0.03	.	15.9291	0.79646	0.0:0.0:0.4023:0.5977	.	213;297	F5GWE8;P28223	.;5HT2A_HUMAN	W	297;213;297	ENSP00000367959:R297W;ENSP00000441861:R213W;ENSP00000437737:R297W	ENSP00000367959:R297W	R	-	1	2	HTR2A	46307500	1.000000	0.71417	0.984000	0.44739	0.974000	0.67602	3.113000	0.50376	-0.155000	0.11098	-0.293000	0.09583	CGG		0.502	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621		35	179	0	0	0	1.48458e-05	0	35	179				
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G	rs200656321		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		CGTTGGTGTTTTTGTAGACCA	0.617																																						ENST00000330048.5																			0																																																			0							g.chr16:32890622T>G	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890622T>G								NR_003083.2						0	3176	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.617	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			6	128	0	0	0	5.18039e-06	0	6	128				
LOC101927905	101927905	broad.mit.edu	37	12	8386955	8386955	+	lincRNA	SNP	T	T	C	rs75997195	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:8386955T>C	ENST00000304751.9	+	0	0				FAM86FP_ENST00000427893.2_RNA																							CTTGTGCTCCTGGCAGGCAGC	0.612													.|||	1	0.000199681	0.0008	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0					ENST00000427893.2																			0																																																			0							g.chr12:8386955T>C																													12.37:g.8386955T>C														0	811	-									RNA	SNP	ENST00000304751.9	37																																																																																						0.612	RP11-266K4.9-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000400464.1			11	322	0	0	0	5.01169e-05	0	11	322				
PYHIN1	149628	broad.mit.edu	37	1	158908227	158908227	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:158908227C>A	ENST00000368140.1	+	3	551	c.306C>A	c.(304-306)atC>atA	p.I102I	PYHIN1_ENST00000392252.3_Silent_p.I93I|PYHIN1_ENST00000368135.4_Silent_p.I102I|PYHIN1_ENST00000368138.3_Silent_p.I93I|PYHIN1_ENST00000392254.2_Silent_p.I102I	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	102					cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AAGGAATAATCCCATCTAAAA	0.443																																						ENST00000368140.1																			0				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(304-306)atC>atA		pyrin and HIN domain family, member 1							114.0	110.0	112.0					1																	158908227		2203	4300	6503	SO:0001819	synonymous_variant	149628				cell cycle	nuclear speck		g.chr1:158908227C>A	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.306C>A	1.37:g.158908227C>A						PYHIN1_ENST00000368138.3_Silent_p.I93I|PYHIN1_ENST00000368135.4_Silent_p.I102I|PYHIN1_ENST00000392252.3_Silent_p.I93I|PYHIN1_ENST00000392254.2_Silent_p.I102I	p.I102I	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN			3	551	+	all_hematologic(112;0.0378)		102					Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Silent	SNP	ENST00000368140.1	37	c.306C>A	CCDS1178.1																																																																																				0.443	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		9	487	1	0	7.48243e-07	2.17888e-05	0.000207656	9	487				
CSF2RB	1439	broad.mit.edu	37	22	37333569	37333569	+	Silent	SNP	G	G	A	rs140662059		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:37333569G>A	ENST00000403662.3	+	14	1941	c.1719G>A	c.(1717-1719)ccG>ccA	p.P573P	CSF2RB_ENST00000406230.1_Silent_p.P579P|CSF2RB_ENST00000262825.5_Silent_p.P579P|CSF2RB_ENST00000536485.1_Silent_p.P520P			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	573					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	AGCCAGGCCCGCCTGCCGCCT	0.647																																						ENST00000262825.5																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42						c.(1735-1737)ccG>ccA		colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)	G		0,4404		0,0,2202	21.0	24.0	23.0		1719	-10.7	0.0	22	dbSNP_134	23	2,8592		0,2,4295	no	coding-synonymous	CSF2RB	NM_000395.2		0,2,6497	AA,AG,GG		0.0233,0.0,0.0154		573/898	37333569	2,12996	2202	4297	6499	SO:0001819	synonymous_variant	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37333569G>A	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.1719G>A	22.37:g.37333569G>A						CSF2RB_ENST00000406230.1_Silent_p.P579P|CSF2RB_ENST00000403662.3_Silent_p.P573P|CSF2RB_ENST00000536485.1_Silent_p.P520P	p.P579P	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN			14	1954	+			573					Q5JZI1|Q6ICE0	Silent	SNP	ENST00000403662.3	37	c.1737G>A	CCDS13936.1																																																																																				0.647	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		16	96	0	0	0	8.00594e-06	0	16	96				
SMC1B	27127	broad.mit.edu	37	22	45765841	45765841	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:45765841G>T	ENST00000357450.4	-	15	2412	c.2413C>A	c.(2413-2415)Caa>Aaa	p.Q805K	SMC1B_ENST00000404354.3_Missense_Mutation_p.Q805K	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	805					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TACCTTTTTTGATCAATTTCT	0.294																																						ENST00000357450.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(2413-2415)Caa>Aaa		structural maintenance of chromosomes 1B							48.0	48.0	48.0					22																	45765841		1791	4053	5844	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45765841G>T	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.2413C>A	22.37:g.45765841G>T	ENSP00000350036:p.Gln805Lys					SMC1B_ENST00000404354.3_Missense_Mutation_p.Q805K	p.Q805K	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	15	2412	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	805					A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.2413C>A	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	G	3.668	-0.068042	0.07228	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.77877	-1.13;-0.93	5.79	3.6	0.41247	RecF/RecN/SMC (1);	0.107611	0.40064	N	0.001198	T	0.45617	0.1351	N	0.01289	-0.905	0.29170	N	0.877191	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.11329	0.006;0.002;0.001	T	0.37454	-0.9705	10	0.02654	T	1	.	12.0528	0.53515	0.0:0.0:0.4371:0.5629	.	805;805;805	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	K	805	ENSP00000350036:Q805K;ENSP00000385902:Q805K	ENSP00000350036:Q805K	Q	-	1	0	SMC1B	44144505	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.708000	0.61859	1.423000	0.47198	0.585000	0.79938	CAA		0.294	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		15	466	1	0	2.31682e-05	2.31682e-05	0.00456484	15	466				
RP11-156P1.3	0	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs532197977		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:45128685T>C	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							TTCCAGGATATGGCTATACTG	0.303																																						ENST00000575173.1																			0																																																			0							g.chr17:45128685T>C																													17.37:g.45128685T>C														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.303	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			17	710	0	0	0	1.64113e-05	0	17	710				
OTOGL	283310	broad.mit.edu	37	12	80749714	80749714	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:80749714C>A	ENST00000547103.1	+	46	5735	c.5729C>A	c.(5728-5730)tCa>tAa	p.S1910*	OTOGL_ENST00000546620.1_5'Flank|OTOGL_ENST00000458043.2_Nonsense_Mutation_p.S1922*			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1910	Cys-rich.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ACCTGCTGTTCAAAGGAAGTT	0.383																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(5764-5766)tCa>tAa		otogelin-like							225.0	208.0	213.0					12																	80749714		1892	4133	6025	SO:0001587	stop_gained	283310							g.chr12:80749714C>A	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.5729C>A	12.37:g.80749714C>A	ENSP00000447211:p.Ser1910*					OTOGL_ENST00000547103.1_Nonsense_Mutation_p.S1910*	p.S1922*	NM_173591.3	NP_775862.3					46	5771	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Nonsense_Mutation	SNP	ENST00000547103.1	37	c.5765C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	47|47	13.174025|13.174025	0.99725|0.99725	.|.	.|.	ENSG00000165899|ENSG00000165899	ENST00000298820|ENST00000547103;ENST00000458043	.|.	.|.	.|.	5.18|5.18	4.28|4.28	0.50868|0.50868	.|.	.|.	.|.	.|.	.|.	T|.	0.62575|.	0.2439|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.69499|.	-0.5129|.	3|.	.|.	.|.	.|.	.|.	13.1075|13.1075	0.59255|0.59255	0.0:0.9231:0.0:0.0768|0.0:0.9231:0.0:0.0768	.|.	.|.	.|.	.|.	K|X	365|1910;1922	.|.	.|.	Q|S	+|+	1|2	0|0	OTOGL|OTOGL	79273845|79273845	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.818000|0.818000	0.46254|0.46254	2.234000|2.234000	0.43035|0.43035	2.417000|2.417000	0.82017|0.82017	0.591000|0.591000	0.81541|0.81541	CAA|TCA		0.383	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		17	784	1	0	5.3912e-06	5.3912e-06	0.00130912	17	784				
MPP3	4356	broad.mit.edu	37	17	41886383	41886383	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:41886383G>T	ENST00000398389.4	-	19	1687	c.1522C>A	c.(1522-1524)Cag>Aag	p.Q508K	MPP3_ENST00000398393.1_Missense_Mutation_p.Q533K	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	508	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CTTTTTTCCTGAATTGCAGGC	0.378																																						ENST00000398393.1																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(1597-1599)Cag>Aag		membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)							131.0	129.0	130.0					17																	41886383		1813	4072	5885	SO:0001583	missense	4356				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	g.chr17:41886383G>T		CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 3"", ""discs, large (Drosophila) homolog 3"", ""membrane protein palmitoylated 3"""	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.1522C>A	17.37:g.41886383G>T	ENSP00000381425:p.Gln508Lys					MPP3_ENST00000398389.4_Missense_Mutation_p.Q508K	p.Q533K			Q13368	MPP3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.119)	17	1857	-		Breast(137;0.00394)	508			Guanylate kinase-like.		B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Missense_Mutation	SNP	ENST00000398389.4	37	c.1597C>A	CCDS42344.1	.	.	.	.	.	.	.	.	.	.	G	8.912	0.959001	0.18507	.	.	ENSG00000161647	ENST00000398393;ENST00000398389	T;T	0.15603	2.41;2.41	5.36	5.36	0.76844	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.278923	0.35291	N	0.003309	T	0.10937	0.0267	N	0.12471	0.22	0.29701	N	0.840156	B;B	0.18741	0.03;0.03	B;B	0.29440	0.071;0.102	T	0.13737	-1.0498	10	0.25751	T	0.34	.	11.4234	0.49996	0.0828:0.0:0.9172:0.0	.	508;533	Q13368;D3DX46	MPP3_HUMAN;.	K	533;508	ENSP00000381430:Q533K;ENSP00000381425:Q508K	ENSP00000381425:Q508K	Q	-	1	0	MPP3	39241909	0.999000	0.42202	0.988000	0.46212	0.988000	0.76386	3.512000	0.53407	2.782000	0.95742	0.655000	0.94253	CAG		0.378	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1	NM_001932		15	623	1	0	1.15919e-05	1.15919e-05	0.00251234	15	623				
OXCT1	5019	broad.mit.edu	37	5	41840613	41840613	+	Splice_Site	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:41840613C>A	ENST00000196371.5	-	7	832	c.672G>T	c.(670-672)agG>agT	p.R224S	OXCT1_ENST00000509987.1_Splice_Site_p.R38S	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	224					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	TTGCACTTTTCCTACAGGGGT	0.368																																						ENST00000196371.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28						c.e7-1		3-oxoacid CoA transferase 1	Succinic acid(DB00139)						99.0	107.0	104.0					5																	41840613		2203	4300	6503	SO:0001630	splice_region_variant	5019				cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity	g.chr5:41840613C>A	U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"""3-oxoacid CoA transferase"""	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.672-1G>T	5.37:g.41840613C>A						OXCT1_ENST00000509987.1_Splice_Site_p.R38_splice	p.R224_splice	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN			7	832	-			224					B2R5V2|B7Z528	Splice_Site	SNP	ENST00000196371.5	37	c.671_splice	CCDS3937.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461521	0.63513	.	.	ENSG00000083720	ENST00000196371;ENST00000546045;ENST00000509987	D;D	0.88354	-2.37;-2.37	5.98	5.98	0.97165	3-oxoacid CoA-transferase, subunit A (1);	0.137880	0.64402	D	0.000003	D	0.94401	0.8199	M	0.85373	2.75	0.52099	D	0.999947	D	0.76494	0.999	D	0.69479	0.964	D	0.94619	0.7811	10	0.87932	D	0	.	13.6254	0.62161	0.0:0.9297:0.0:0.0702	.	224	P55809	SCOT1_HUMAN	S	224;136;38	ENSP00000196371:R224S;ENSP00000425348:R38S	ENSP00000196371:R224S	R	-	3	2	OXCT1	41876370	1.000000	0.71417	1.000000	0.80357	0.400000	0.30750	3.218000	0.51192	2.835000	0.97688	0.650000	0.86243	AGG		0.368	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	NM_000436	Missense_Mutation	9	692	1	0	3.86212e-05	3.86212e-05	0.00711662	9	692				
PITPNM2	57605	broad.mit.edu	37	12	123494616	123494616	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:123494616C>A	ENST00000542749.1	-	4	487	c.424G>T	c.(424-426)Gac>Tac	p.D142Y	PITPNM2_ENST00000320201.4_Missense_Mutation_p.D142Y|PITPNM2_ENST00000546049.1_Missense_Mutation_p.D142Y|MIR4304_ENST00000580964.1_RNA|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000280562.5_Missense_Mutation_p.D142Y			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	142					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TTGACAATGTCGATGAAGTCT	0.567																																						ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(424-426)Gac>Tac		phosphatidylinositol transfer protein, membrane-associated 2							75.0	75.0	75.0					12																	123494616		2203	4300	6503	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123494616C>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.424G>T	12.37:g.123494616C>A	ENSP00000437611:p.Asp142Tyr					PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000546049.1_Missense_Mutation_p.D142Y|PITPNM2_ENST00000542749.1_Missense_Mutation_p.D142Y|PITPNM2_ENST00000320201.4_Missense_Mutation_p.D142Y|PITPNM2_ENST00000392428.1_Intron	p.D142Y			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	5	629	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		142					Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.424G>T	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527356	0.85706	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000542749	T;T;T	0.72615	-0.67;-0.67;-0.67	4.96	4.96	0.65561	START-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90184	0.6932	H	0.97465	4.01	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.93731	0.7041	10	0.87932	D	0	-45.2378	18.5728	0.91142	0.0:1.0:0.0:0.0	.	142;142;142	A5D8U3;Q9BZ72-2;Q9BZ72	.;.;PITM2_HUMAN	Y	142	ENSP00000280562:D142Y;ENSP00000322218:D142Y;ENSP00000437611:D142Y	ENSP00000280562:D142Y	D	-	1	0	PITPNM2	122060569	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.609000	0.82925	2.479000	0.83701	0.655000	0.94253	GAC		0.567	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		8	416	1	0	1.12685e-05	1.12685e-05	0.00245395	8	416				
OR2M2	391194	broad.mit.edu	37	1	248344093	248344093	+	Missense_Mutation	SNP	C	C	T	rs149761766		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:248344093C>T	ENST00000359682.2	+	1	806	c.806C>T	c.(805-807)aCg>aTg	p.T269M		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CACTCCCCAACGCAGGACAAG	0.502																																						ENST00000359682.2																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70						c.(805-807)aCg>aTg		olfactory receptor, family 2, subfamily M, member 2		T	MET/THR	0,4406		0,0,2203	212.0	189.0	197.0		806	-4.1	0.0	1	dbSNP_134	197	1,8599	819.2+/-406.8	0,1,4299	no	missense	OR2M2	NM_001004688.1	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	269/348	248344093	1,13005	2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248344093C>T	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.806C>T	1.37:g.248344093C>T	ENSP00000352710:p.Thr269Met						p.T269M	NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	806	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		269					A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.806C>T	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	t	1.263	-0.615211	0.03663	0.0	1.16E-4	ENSG00000198601	ENST00000359682	T	0.00123	8.7	2.03	-4.06	0.03986	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	M	0.70275	2.135	0.09310	N	1	B	0.28439	0.212	B	0.29598	0.104	T	0.38178	-0.9673	9	0.51188	T	0.08	.	10.6476	0.45630	0.2235:0.6609:0.0:0.1157	.	269	Q96R28	OR2M2_HUMAN	M	269	ENSP00000352710:T269M	ENSP00000352710:T269M	T	+	2	0	OR2M2	246410716	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.426000	0.00036	-3.968000	0.00086	-3.185000	0.00055	ACG		0.502	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		166	796	0	0	0	2.47226e-05	0	166	796				
ZAN	7455	broad.mit.edu	37	7	100350550	100350550	+	RNA	SNP	T	T	C			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:100350550T>C	ENST00000348028.3	+	0	2987				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L941P(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACAGAAAAACTCACCATCCCC	0.517																																						ENST00000542585.1																			1	Substitution - Missense(1)	p.L941P(1)	prostate(1)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							260.0	315.0	297.0					7																	100350550		1856	4091	5947			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350550T>C	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350550T>C						ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2970	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	C	0.203	-1.042681	0.01997	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.58506	0.33;0.33;0.33	2.62	0.819	0.18785	.	.	.	.	.	T	0.28234	0.0697	N	0.01576	-0.805	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20571	-1.0271	9	0.34782	T	0.22	.	10.5034	0.44819	0.0:0.8802:0.0:0.1198	.	941;941	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	941	ENSP00000445943:L941P;ENSP00000445091:L941P;ENSP00000444427:L941P	ENSP00000423579:L941P	L	+	2	0	ZAN	100188486	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-1.679000	0.01940	0.215000	0.20761	-0.721000	0.03606	CTC		0.517	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		6	691	0	0	0	1.12685e-05	0	6	691				
C1orf110	339512	broad.mit.edu	37	1	162824970	162824970	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:162824970G>T	ENST00000367910.1	-	4	614	c.494C>A	c.(493-495)cCa>cAa	p.P165Q	C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367912.2_Missense_Mutation_p.P164Q|C1orf110_ENST00000367911.2_Missense_Mutation_p.P160Q	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	165										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						GTCCTTAGATGGATTCACAGA	0.473																																						ENST00000367912.1																			0				endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						c.(490-492)cCa>cAa		chromosome 1 open reading frame 110							266.0	255.0	259.0					1																	162824970		1912	4131	6043	SO:0001583	missense	339512							g.chr1:162824970G>T	BC040018	CCDS44269.1	1q23.3	2012-06-26			ENSG00000185860	ENSG00000185860			28736	protein-coding gene	gene with protein product						12477932	Standard	NM_178550		Approved	MGC48998	uc001gck.2	Q86UF4	OTTHUMG00000034421	ENST00000367910.1:c.494C>A	1.37:g.162824970G>T	ENSP00000356886:p.Pro165Gln					C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367910.1_Missense_Mutation_p.P165Q|C1orf110_ENST00000367911.2_Missense_Mutation_p.P160Q	p.P164Q			Q86UF4	CA110_HUMAN			4	665	-			165					Q5JSG1|Q6ZW57	Missense_Mutation	SNP	ENST00000367910.1	37	c.491C>A	CCDS44269.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313572	0.40996	.	.	ENSG00000185860	ENST00000367912;ENST00000367911;ENST00000367910	.	.	.	4.22	2.33	0.28932	.	0.264448	0.27331	N	0.019843	T	0.32466	0.0830	L	0.36672	1.1	0.31767	N	0.6326149999999999	D;D	0.55385	0.971;0.971	P;P	0.56042	0.79;0.79	T	0.26155	-1.0111	8	0.87932	D	0	-1.0E-4	6.5268	0.22305	0.221:0.0:0.779:0.0	.	164;165	Q86UF4-2;Q86UF4	.;CA110_HUMAN	Q	164;160;165	.	ENSP00000356886:P165Q	P	-	2	0	C1orf110	161091594	0.011000	0.17503	0.001000	0.08648	0.014000	0.08584	1.584000	0.36589	0.517000	0.28361	0.655000	0.94253	CCA		0.473	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083211.2	NM_178550		13	1087	1	0	5.50884e-06	5.50884e-06	0.00130912	13	1087				
PLEKHA8P1	51054	broad.mit.edu	37	12	45567702	45567702	+	RNA	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:45567702G>T	ENST00000256692.5	-	0	983					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CACCTTGGACGGTTATATTAT	0.343																																						ENST00000256692.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26															95.0	94.0	94.0					12																	45567702		2203	4300	6503			0							g.chr12:45567702G>T	AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"""putative glycolipid transfer protein"""		"""pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"""	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45567702G>T								NR_037144.1						0	983	-									RNA	SNP	ENST00000256692.5	37																																																																																						0.343	PLEKHA8P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000404814.1	NR_037144		9	579	1	0	3.86212e-05	3.86212e-05	0.00711662	9	579				
ZNF443	10224	broad.mit.edu	37	19	12541141	12541141	+	Silent	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:12541141C>T	ENST00000301547.5	-	4	2042	c.1845G>A	c.(1843-1845)ccG>ccA	p.P615P	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	615					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TACATTCATACGGGTTCTCTC	0.403																																						ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(1843-1845)ccG>ccA		zinc finger protein 443							62.0	67.0	65.0					19																	12541141		2197	4290	6487	SO:0001819	synonymous_variant	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12541141C>T	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.1845G>A	19.37:g.12541141C>T						CTD-3105H18.16_ENST00000595562.1_Intron	p.P615P	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			4	2042	-			615						Silent	SNP	ENST00000301547.5	37	c.1845G>A	CCDS32918.1																																																																																				0.403	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		5	419	0	0	0	3.59834e-05	0	5	419				
ZNF845	91664	broad.mit.edu	37	19	53856761	53856761	+	Missense_Mutation	SNP	T	T	C	rs528924232		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:53856761T>C	ENST00000595091.1	+	5	3052	c.2833T>C	c.(2833-2835)Tgt>Cgt	p.C945R	ZNF845_ENST00000458035.1_Missense_Mutation_p.C945R			Q96IR2	ZN845_HUMAN	zinc finger protein 845	945					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C945R(1)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACCTTACAAGTGTAATGAATG	0.348																																						ENST00000458035.1																			1	Substitution - Missense(1)	p.C945R(1)	kidney(1)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2833-2835)Tgt>Cgt		zinc finger protein 845							25.0	23.0	24.0					19																	53856761		692	1590	2282	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856761T>C	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2833T>C	19.37:g.53856761T>C	ENSP00000470005:p.Cys945Arg					ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R	p.C945R	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2950	+			945						Missense_Mutation	SNP	ENST00000595091.1	37	c.2833T>C	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	T	7.922	0.738844	0.15642	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	D	0.85258	-1.96	2.04	0.921	0.19403	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94417	0.8204	H	0.99336	4.52	0.38301	D	0.942985	D	0.89917	1.0	D	0.91635	0.999	D	0.91222	0.5007	9	0.66056	D	0.02	.	6.1858	0.20495	0.2258:0.0:0.0:0.7742	.	945	Q96IR2	ZN845_HUMAN	R	945;861	ENSP00000388311:C945R	ENSP00000412086:C861R	C	+	1	0	ZNF845	58548573	1.000000	0.71417	0.080000	0.20451	0.053000	0.15095	4.520000	0.60524	0.031000	0.15407	-0.871000	0.02989	TGT		0.348	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		9	195	0	0	0	9.31168e-06	0	9	195				
CRNN	49860	broad.mit.edu	37	1	152383339	152383339	+	Silent	SNP	T	T	C			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:152383339T>C	ENST00000271835.3	-	3	281	c.219A>G	c.(217-219)gaA>gaG	p.E73E	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	73	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCAGGAATTCCTTGAATT	0.537																																						ENST00000271835.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(217-219)gaA>gaG		cornulin							60.0	64.0	63.0					1																	152383339		2200	4299	6499	SO:0001819	synonymous_variant	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152383339T>C	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.219A>G	1.37:g.152383339T>C						RP1-91G5.3_ENST00000411804.1_RNA	p.E73E	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	281	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		73			EF-hand.		B2RE60|Q8N613	Silent	SNP	ENST00000271835.3	37	c.219A>G	CCDS1010.1																																																																																				0.537	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		26	439	0	0	0	7.33532e-06	0	26	439				
MRPL3	11222	broad.mit.edu	37	3	131219286	131219286	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:131219286G>T	ENST00000264995.3	-	3	504	c.357C>A	c.(355-357)gtC>gtA	p.V119V	MRPL3_ENST00000506946.1_5'UTR|MRPL3_ENST00000425847.2_Silent_p.V146V	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	119					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						GAAGTAATGTGACCACATGCT	0.398																																						ENST00000264995.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						c.(355-357)gtC>gtA		mitochondrial ribosomal protein L3							156.0	121.0	133.0					3																	131219286		2203	4300	6503	SO:0001819	synonymous_variant	11222				translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr3:131219286G>T	X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"""Mitochondrial ribosomal proteins / large subunits"""	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.357C>A	3.37:g.131219286G>T						MRPL3_ENST00000506946.1_5'UTR|MRPL3_ENST00000425847.2_Silent_p.V146V	p.V119V	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN			3	504	-			119					Q6IBT2	Silent	SNP	ENST00000264995.3	37	c.357C>A	CCDS3071.1	.	.	.	.	.	.	.	.	.	.	G	3.702	-0.061285	0.07317	.	.	ENSG00000114686	ENST00000511168	.	.	.	5.62	4.73	0.59995	.	.	.	.	.	T	0.71099	0.3300	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70498	-0.4855	4	.	.	.	-2.7541	15.3528	0.74402	0.0:0.1405:0.8595:0.0	.	.	.	.	N	134	.	.	H	-	1	0	MRPL3	132701976	1.000000	0.71417	0.999000	0.59377	0.354000	0.29330	4.626000	0.61269	1.340000	0.45581	0.555000	0.69702	CAC		0.398	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356471.3	NM_007208		21	916	1	0	4.16121e-05	4.16121e-05	0.00757574	21	916				
TUBB8P7	197331	broad.mit.edu	37	16	90162338	90162338	+	RNA	SNP	T	T	C			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr16:90162338T>C	ENST00000564451.1	+	0	1691				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		GACATCCCACTCCGGGGGCTA	0.483																																						ENST00000567960.1																			0																																																			0							g.chr16:90162338T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162338T>C						TUBB8P7_ENST00000564451.1_RNA								0	1074	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.483	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		7	736	0	0	0	7.33532e-06	0	7	736				
KRTAP1-3	81850	broad.mit.edu	37	17	39190779	39190779	+	Missense_Mutation	SNP	T	T	C			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:39190779T>C	ENST00000344363.5	-	1	328	c.295A>G	c.(295-297)Agt>Ggt	p.S99G		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	109						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)	p.S99G(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACAGCTCCACTGCTGCCCTCC	0.652																																						ENST00000344363.5																			2	Substitution - Missense(2)	p.S99G(2)	lung(1)|kidney(1)	cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12						c.(295-297)Agt>Ggt		keratin associated protein 1-3							17.0	22.0	21.0					17																	39190779		2007	4147	6154	SO:0001583	missense	81850					extracellular region|keratin filament	structural constituent of epidermis	g.chr17:39190779T>C	AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"""Keratin associated proteins"""	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.295A>G	17.37:g.39190779T>C	ENSP00000344420:p.Ser99Gly						p.S99G	NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	328	-		Breast(137;0.000496)	109					Q07628|Q8IUG0|Q9BYS2	Missense_Mutation	SNP	ENST00000344363.5	37	c.295A>G	CCDS42323.1	.	.	.	.	.	.	.	.	.	.	T	12.64	1.997470	0.35226	.	.	ENSG00000221880	ENST00000344363	T	0.38077	1.16	4.93	-9.87	0.00470	.	.	.	.	.	T	0.25754	0.0627	.	.	.	0.09310	N	0.999999	B	0.29253	0.239	B	0.34038	0.174	T	0.43956	-0.9359	8	0.59425	D	0.04	.	10.9204	0.47161	0.1862:0.0:0.0722:0.7416	.	109	Q8IUG1	KRA13_HUMAN	G	99	ENSP00000344420:S99G	ENSP00000344420:S99G	S	-	1	0	KRTAP1-3	36444305	0.028000	0.19301	0.006000	0.13384	0.225000	0.24961	0.193000	0.17116	-1.956000	0.01022	-0.302000	0.09304	AGT		0.652	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257687.1			5	166	0	0	0	5.18039e-06	0	5	166				
ZFP91	80829	broad.mit.edu	37	11	58379764	58379764	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:58379764C>T	ENST00000316059.6	+	7	1042	c.871C>T	c.(871-873)Cga>Tga	p.R291*	ZFP91-CNTF_ENST00000389919.4_Nonsense_Mutation_p.R291*|AP001350.1_ENST00000601906.1_5'Flank	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	291					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AGGAAGAAGACGAAAAGATGA	0.418																																						ENST00000316059.6																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(871-873)Cga>Tga		ZFP91 zinc finger protein							101.0	92.0	95.0					11																	58379764		2201	4295	6496	SO:0001587	stop_gained	80829				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:58379764C>T	AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.871C>T	11.37:g.58379764C>T	ENSP00000339030:p.Arg291*					ZFP91-CNTF_ENST00000389919.4_Nonsense_Mutation_p.R291*	p.R291*	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN			7	1042	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	291					A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Nonsense_Mutation	SNP	ENST00000316059.6	37	c.871C>T	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	C	38	6.963557	0.97967	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	.	.	.	5.69	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-6.2665	11.456	0.50183	0.3271:0.6729:0.0:0.0	.	.	.	.	X	291	.	ENSP00000374569:R291X	R	+	1	2	ZFP91	58136340	0.985000	0.35326	1.000000	0.80357	0.992000	0.81027	0.526000	0.22971	1.346000	0.45694	0.650000	0.86243	CGA		0.418	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023		26	238	0	0	0	4.66903e-05	0	26	238				
KRTAP9-9	81870	broad.mit.edu	37	17	39412064	39412064	+	Missense_Mutation	SNP	G	G	A	rs374673591	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:39412064G>A	ENST00000394008.1	+	1	429	c.427G>A	c.(427-429)Gcc>Acc	p.A143T		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	128	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CTGCCGCCCCGCCTGCTGTGA	0.612													.|||	2	0.000399361	0.0008	0.0	5008	,	,		19347	0.0		0.001	False		,,,				2504	0.0					ENST00000394008.1																			0				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(427-429)Gcc>Acc		keratin associated protein 9-9		G	THR/ALA	0,4406		0,0,2203	153.0	161.0	158.0		427	-2.5	0.0	17		158	1,8599		0,1,4299	no	missense	KRTAP9-9	NM_030975.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	143/170	39412064	1,13005	2203	4300	6503	SO:0001583	missense	81870					keratin filament		g.chr17:39412064G>A	AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"""Keratin associated proteins"""	16773	protein-coding gene	gene with protein product			"""keratin associated protein 9-5"""	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.427G>A	17.37:g.39412064G>A	ENSP00000377576:p.Ala143Thr						p.A143T	NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	429	+		Breast(137;0.000496)	143					B5MDD6|Q9BYQ1	Missense_Mutation	SNP	ENST00000394008.1	37	c.427G>A	CCDS54127.1	.	.	.	.	.	.	.	.	.	.	.	14.35	2.507999	0.44558	0.0	1.16E-4	ENSG00000198083	ENST00000431129;ENST00000394008	T	0.01295	5.04	2.85	-2.54	0.06307	.	.	.	.	.	T	0.00524	0.0017	N	0.00879	-1.12	0.09310	N	1	B	0.17268	0.021	B	0.08055	0.003	T	0.44982	-0.9292	9	0.37606	T	0.19	.	3.7095	0.08414	0.5122:0.0:0.3091:0.1786	.	128	Q9BYP9	KRA99_HUMAN	T	149;143	ENSP00000377576:A143T	ENSP00000377576:A143T	A	+	1	0	KRTAP9-9	36665590	0.000000	0.05858	0.000000	0.03702	0.448000	0.32197	-1.026000	0.03596	-0.748000	0.04753	0.205000	0.17691	GCC		0.612	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257710.1	NM_030975		62	670	0	0	0	2.47226e-05	0	62	670				
ZNF761	388561	broad.mit.edu	37	19	53958280	53958280	+	RNA	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:53958280G>T	ENST00000454407.1	+	0	972							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ATGCTTCCTTGGTTTCAACAG	0.383																																						ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761							97.0	102.0	101.0					19																	53958280		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958280G>T	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958280G>T										Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	972	+								Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.383	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		12	969	1	0	9.31168e-06	9.31168e-06	0.00207751	12	969				
SGCG	6445	broad.mit.edu	37	13	23869565	23869565	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr13:23869565G>A	ENST00000218867.3	+	6	641	c.517G>A	c.(517-519)Gct>Act	p.A173T	SGCG_ENST00000537476.1_Missense_Mutation_p.A173T|SGCG_ENST00000545013.1_Missense_Mutation_p.A173T	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	173					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		GCCTGAAGGGGCTCTTTTTGA	0.373																																						ENST00000218867.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(517-519)Gct>Act		sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)							155.0	158.0	157.0					13																	23869565		2203	4300	6503	SO:0001583	missense	6445				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr13:23869565G>A	U34976	CCDS9299.1	13q12-q13	2014-09-17	2002-08-29		ENSG00000102683	ENSG00000102683			10809	protein-coding gene	gene with protein product	"""Maghrebian myopathy (autosomal recessive)"", ""35kD dystrophin-associated glycoprotein"", ""limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)"", ""gamma sarcoglycan"""	608896	"""sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)"""	DMDA1, MAM, LGMD2C		8968757	Standard	NM_000231		Approved	SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048	uc001uom.2	Q13326	OTTHUMG00000016563	ENST00000218867.3:c.517G>A	13.37:g.23869565G>A	ENSP00000218867:p.Ala173Thr					SGCG_ENST00000545013.1_Missense_Mutation_p.A173T|SGCG_ENST00000537476.1_Missense_Mutation_p.A173T	p.A173T	NM_000231.2	NP_000222.1	Q13326	SGCG_HUMAN		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)	6	641	+		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)	173					Q32M32|Q5T9J6	Missense_Mutation	SNP	ENST00000218867.3	37	c.517G>A	CCDS9299.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182474	0.57800	.	.	ENSG00000102683	ENST00000218867;ENST00000537476;ENST00000545013	D;D;D	0.95307	-3.67;-3.67;-3.67	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.96386	0.8821	M	0.75447	2.3	0.54753	D	0.999985	D	0.89917	1.0	D	0.91635	0.999	D	0.94976	0.8121	10	0.23891	T	0.37	-20.3547	13.2912	0.60272	0.0:0.0:1.0:0.0	.	173	Q13326	SGCG_HUMAN	T	173	ENSP00000218867:A173T;ENSP00000444100:A173T;ENSP00000442232:A173T	ENSP00000218867:A173T	A	+	1	0	SGCG	22767565	1.000000	0.71417	0.998000	0.56505	0.580000	0.36256	4.816000	0.62642	2.264000	0.75181	0.563000	0.77884	GCT		0.373	SGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044151.1	NM_000231		172	805	0	0	0	2.47226e-05	0	172	805				
ATP7B	540	broad.mit.edu	37	13	52548807	52548807	+	Silent	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr13:52548807G>A	ENST00000242839.4	-	2	705	c.549C>T	c.(547-549)gcC>gcT	p.A183A	ATP7B_ENST00000400370.3_Silent_p.A183A|ATP7B_ENST00000344297.5_Silent_p.A183A|ATP7B_ENST00000418097.2_Silent_p.A183A|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000448424.2_Silent_p.A183A|ATP7B_ENST00000542656.1_Silent_p.A151A|ATP7B_ENST00000400366.3_Silent_p.A183A	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	183	HMA 2. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AAGTGATGACGGCCTCTTGGT	0.512									Wilson disease																													ENST00000242839.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55						c.(547-549)gcC>gcT		ATPase, Cu++ transporting, beta polypeptide							59.0	62.0	61.0					13																	52548807		2083	4211	6294	SO:0001819	synonymous_variant	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52548807G>A	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.549C>T	13.37:g.52548807G>A						ATP7B_ENST00000400370.3_Silent_p.A183A|ATP7B_ENST00000448424.2_Silent_p.A183A|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400366.3_Silent_p.A183A|ATP7B_ENST00000418097.2_Silent_p.A183A|ATP7B_ENST00000344297.5_Silent_p.A183A|ATP7B_ENST00000542656.1_Silent_p.A151A	p.A183A	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	2	705	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	183			HMA 2.		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Silent	SNP	ENST00000242839.4	37	c.549C>T	CCDS41892.1																																																																																				0.512	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		43	222	0	0	0	6.26518e-05	0	43	222				
ENPP3	5169	broad.mit.edu	37	6	131979467	131979467	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:131979467G>T	ENST00000414305.1	+	7	797	c.469G>T	c.(469-471)Gac>Tac	p.D157Y	ENPP3_ENST00000357639.3_Missense_Mutation_p.D157Y|ENPP3_ENST00000358229.5_Missense_Mutation_p.D157Y|ENPP3_ENST00000427148.2_Missense_Mutation_p.D123Y|ENPP3_ENST00000470930.1_3'UTR|ENPP3_ENST00000543135.1_Missense_Mutation_p.D123Y			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	157	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TTTCAGGTTTGACCTGCCACC	0.328																																						ENST00000414305.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(469-471)Gac>Tac		ectonucleotide pyrophosphatase/phosphodiesterase 3							137.0	133.0	134.0					6																	131979467		2202	4300	6502	SO:0001583	missense	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:131979467G>T	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.469G>T	6.37:g.131979467G>T	ENSP00000406261:p.Asp157Tyr					ENPP3_ENST00000358229.5_Missense_Mutation_p.D157Y|ENPP3_ENST00000543135.1_Missense_Mutation_p.D123Y|ENPP3_ENST00000427148.2_Missense_Mutation_p.D123Y|ENPP3_ENST00000470930.1_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.D157Y	p.D157Y			O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	7	797	+	Breast(56;0.0753)		157			Phosphodiesterase.		Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	c.469G>T	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432322	0.62844	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000543135;ENST00000427148;ENST00000358229	T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88	5.46	5.46	0.80206	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.726895	0.12959	N	0.425153	T	0.77032	0.4071	M	0.73962	2.25	0.38009	D	0.934463	P	0.47545	0.897	P	0.49561	0.615	T	0.79536	-0.1763	10	0.66056	D	0.02	-12.1846	16.5792	0.84710	0.0:0.0:1.0:0.0	.	157	O14638	ENPP3_HUMAN	Y	157;157;123;123;157	ENSP00000406261:D157Y;ENSP00000350265:D157Y;ENSP00000440810:D123Y;ENSP00000399269:D123Y;ENSP00000350964:D157Y	ENSP00000350265:D157Y	D	+	1	0	ENPP3	132021160	1.000000	0.71417	0.998000	0.56505	0.671000	0.39405	2.644000	0.46613	2.722000	0.93159	0.650000	0.86243	GAC		0.328	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			8	283	1	0	1.12685e-05	1.12685e-05	0.00245395	8	283				
PRKAA1	5562	broad.mit.edu	37	5	40767579	40767579	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:40767579G>T	ENST00000397128.2	-	6	818	c.810C>A	c.(808-810)atC>atA	p.I270I	PRKAA1_ENST00000354209.3_Silent_p.I285I	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	270	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to glucose starvation (GO:0042149)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|cold acclimation (GO:0009631)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|fatty acid oxidation (GO:0019395)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of glucosylceramide biosynthetic process (GO:0046318)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of gene expression (GO:0010628)|positive regulation of glycolytic process (GO:0045821)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of transcription, DNA-templated (GO:0006355)|regulation of vesicle-mediated transport (GO:0060627)|response to activity (GO:0014823)|response to caffeine (GO:0031000)|response to camptothecin (GO:1901563)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	AMP-activated protein kinase complex (GO:0031588)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|tau-protein kinase activity (GO:0050321)			breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TGATATCTTTGATTGTGGCCC	0.348																																						ENST00000397128.2																			0				breast(1)	1						c.(808-810)atC>atA		protein kinase, AMP-activated, alpha 1 catalytic subunit	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)						79.0	75.0	76.0					5																	40767579		1823	4077	5900	SO:0001819	synonymous_variant	5562				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding	g.chr5:40767579G>T		CCDS3932.2, CCDS3933.2	5p13.1	2012-10-03			ENSG00000132356	ENSG00000132356			9376	protein-coding gene	gene with protein product	"""AMPK, alpha, 1"""	602739				8557660	Standard	XM_006714481		Approved	AMPKa1	uc003jmb.3	Q13131	OTTHUMG00000162269	ENST00000397128.2:c.810C>A	5.37:g.40767579G>T						PRKAA1_ENST00000354209.3_Silent_p.I285I	p.I270I	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN			6	818	-			270			Protein kinase.		A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Silent	SNP	ENST00000397128.2	37	c.810C>A	CCDS3932.2																																																																																				0.348	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253833.2	NM_006251		11	400	1	0	3.07112e-06	3.07112e-06	0.000789711	11	400				
CD99L2	83692	broad.mit.edu	37	X	149983362	149983362	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chrX:149983362G>T	ENST00000370377.3	-	4	367	c.250C>A	c.(250-252)Cgc>Agc	p.R84S	CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000437787.2_Missense_Mutation_p.R84S|CD99L2_ENST00000466436.1_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	84					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTTCCTGCGGCCATCATCT	0.453																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(250-252)Cgc>Agc		CD99 molecule-like 2							179.0	167.0	171.0					X																	149983362		2203	4300	6503	SO:0001583	missense	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149983362G>T	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.250C>A	X.37:g.149983362G>T	ENSP00000359403:p.Arg84Ser					CD99L2_ENST00000437787.2_Missense_Mutation_p.R84S|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron	p.R84S	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			4	367	-	Acute lymphoblastic leukemia(192;6.56e-05)		84					A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	Missense_Mutation	SNP	ENST00000370377.3	37	c.250C>A	CCDS35427.1	.	.	.	.	.	.	.	.	.	.	G	2.949	-0.217209	0.06101	.	.	ENSG00000102181	ENST00000370377;ENST00000438086;ENST00000437787;ENST00000418547	T	0.21361	2.01	2.07	1.19	0.21007	.	15.027200	0.00897	U	0.002304	T	0.26011	0.0634	M	0.66939	2.045	0.09310	N	1	B;B	0.25105	0.118;0.058	B;B	0.30179	0.112;0.009	T	0.17806	-1.0357	9	.	.	.	.	4.0882	0.09957	0.2226:0.0:0.7774:0.0	.	84;84	E9PD27;Q8TCZ2	.;C99L2_HUMAN	S	84;88;84;47	ENSP00000394858:R84S	.	R	-	1	0	CD99L2	149734020	0.016000	0.18221	0.003000	0.11579	0.096000	0.18686	1.263000	0.33004	0.324000	0.23333	0.292000	0.19580	CGC		0.453	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		9	561	1	0	5.50884e-06	5.50884e-06	0.00130912	9	561				
HSD17B11	51170	broad.mit.edu	37	4	88258508	88258508	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:88258508C>A	ENST00000358290.4	-	7	1138	c.823G>T	c.(823-825)Gag>Tag	p.E275*	HSD17B11_ENST00000507286.1_Nonsense_Mutation_p.E231*|HSD17B11_ENST00000507518.1_5'UTR|RP11-529H2.2_ENST00000508163.1_RNA	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	275					androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		AGGAAACGCTCAGGAAGGATC	0.294																																						ENST00000358290.4																			0				cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11						c.(823-825)Gag>Tag		hydroxysteroid (17-beta) dehydrogenase 11							86.0	87.0	86.0					4																	88258508		2203	4299	6502	SO:0001587	stop_gained	51170				androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity	g.chr4:88258508C>A	AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	22960	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 2"", ""short chain dehydrogenase/reductase family 16C, member 2"""	612831	"""dehydrogenase/reductase (SDR family) member 8"""	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.823G>T	4.37:g.88258508C>A	ENSP00000351035:p.Glu275*					HSD17B11_ENST00000507518.1_5'UTR|HSD17B11_ENST00000507286.1_Nonsense_Mutation_p.E231*|RP11-529H2.2_ENST00000508163.1_RNA	p.E275*	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000339)	7	1138	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	275					Q96HF6|Q9UKU4	Nonsense_Mutation	SNP	ENST00000358290.4	37	c.823G>T	CCDS3619.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214804	0.39102	.	.	ENSG00000198189	ENST00000358290;ENST00000507286	.	.	.	5.49	4.64	0.57946	.	0.079681	0.51477	D	0.000087	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	13.4986	0.61440	0.0:0.8429:0.1571:0.0	.	.	.	.	X	275;231	.	ENSP00000351035:E275X	E	-	1	0	HSD17B11	88477532	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	3.940000	0.56599	1.307000	0.44944	0.563000	0.77884	GAG		0.294	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253041.1	NM_016245		21	620	1	0	3.70037e-05	3.70037e-05	0.00707642	21	620				
RP1L1	94137	broad.mit.edu	37	8	10465247	10465247	+	Missense_Mutation	SNP	T	T	C			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr8:10465247T>C	ENST00000382483.3	-	4	6584	c.6361A>G	c.(6361-6363)Act>Gct	p.T2121A		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2201	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCCCCTTCAGTCTCTGGGGCC	0.622																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(6361-6363)Act>Gct		retinitis pigmentosa 1-like 1							157.0	171.0	166.0					8																	10465247		1889	4094	5983	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10465247T>C	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.6361A>G	8.37:g.10465247T>C	ENSP00000371923:p.Thr2121Ala						p.T2121A	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6584	-			2121					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.6361A>G	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	-	0.211	-1.036742	0.02013	.	.	ENSG00000183638	ENST00000382483	T	0.04758	3.56	1.62	-1.31	0.09230	.	.	.	.	.	T	0.01320	0.0043	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45352	-0.9267	9	0.06099	T	0.92	.	3.4342	0.07440	0.0:0.4695:0.2141:0.3164	.	2121	A6NKC6	.	A	2121	ENSP00000371923:T2121A	ENSP00000371923:T2121A	T	-	1	0	RP1L1	10502657	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-5.720000	0.00102	-0.477000	0.06832	-1.558000	0.00888	ACT		0.622	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			7	916	0	0	0	3.86212e-05	0	7	916				
ZNF208	7757	broad.mit.edu	37	19	22155223	22155223	+	Silent	SNP	T	T	C			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:22155223T>C	ENST00000397126.4	-	4	2761	c.2613A>G	c.(2611-2613)aaA>aaG	p.K871K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	871					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K771K(2)|p.K871K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGAGGGCCATTTATAGGCTT	0.373																																						ENST00000397126.4																			3	Substitution - coding silent(3)	p.K771K(2)|p.K871K(1)	kidney(3)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2611-2613)aaA>aaG		zinc finger protein 208							47.0	50.0	49.0					19																	22155223		2074	4231	6305	SO:0001819	synonymous_variant	7757							g.chr19:22155223T>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2613A>G	19.37:g.22155223T>C						ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.K871K	NM_007153.3	NP_009084.2					4	2761	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.2613A>G	CCDS54240.1																																																																																				0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		6	416	0	0	0	3.59834e-05	0	6	416				
RNF32	140545	broad.mit.edu	37	7	156437421	156437421	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:156437421C>A	ENST00000405335.1	+	4	653	c.244C>A	c.(244-246)Ctt>Att	p.L82I	RNF32_ENST00000392743.2_Missense_Mutation_p.L82I|RNF32_ENST00000392741.2_Missense_Mutation_p.L82I|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000317955.5_Missense_Mutation_p.L82I|RNF32_ENST00000432459.2_Missense_Mutation_p.L82I|RNF32_ENST00000392740.1_Missense_Mutation_p.L82I|RNF32_ENST00000311822.8_Missense_Mutation_p.L82I|RNF32_ENST00000343665.4_Missense_Mutation_p.L82I			Q9H0A6	RNF32_HUMAN	ring finger protein 32	82						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AGAATATGTTCTTGATCCCAA	0.353																																						ENST00000392741.2																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15						c.(244-246)Ctt>Att		ring finger protein 32							70.0	74.0	72.0					7																	156437421		2203	4300	6503	SO:0001583	missense	140545					aggresome|endosome	protein binding|zinc ion binding	g.chr7:156437421C>A		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.244C>A	7.37:g.156437421C>A	ENSP00000385285:p.Leu82Ile					RNF32_ENST00000392740.1_Missense_Mutation_p.L82I|RNF32_ENST00000392743.2_Missense_Mutation_p.L82I|RNF32_ENST00000343665.4_Missense_Mutation_p.L82I|RNF32_ENST00000405335.1_Missense_Mutation_p.L82I|RNF32_ENST00000317955.5_Missense_Mutation_p.L82I|RNF32_ENST00000311822.8_Missense_Mutation_p.L82I|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000432459.2_Missense_Mutation_p.L82I	p.L82I			Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	2	332	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	82					Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Missense_Mutation	SNP	ENST00000405335.1	37	c.244C>A	CCDS5944.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331272	0.81690	.	.	ENSG00000105982	ENST00000404282;ENST00000432459;ENST00000317955;ENST00000405335;ENST00000311822;ENST00000392743;ENST00000392741;ENST00000343665;ENST00000392740	D;D;D;D;D;D;D;T	0.92299	-3.01;-3.01;-3.01;-3.01;-3.01;-3.01;-3.01;1.6	5.17	5.17	0.71159	.	0.059371	0.64402	D	0.000002	D	0.95705	0.8603	M	0.71206	2.165	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.998;1.0;0.993	D;P;D;P	0.87578	0.997;0.895;0.998;0.725	D	0.95321	0.8420	10	0.46703	T	0.11	-17.3747	18.6938	0.91593	0.0:1.0:0.0:0.0	.	82;82;82;82	Q9H0A6-4;G5E940;Q9H0A6-2;Q9H0A6	.;.;.;RNF32_HUMAN	I	82	ENSP00000385815:L82I;ENSP00000405588:L82I;ENSP00000315950:L82I;ENSP00000385285:L82I;ENSP00000308894:L82I;ENSP00000376499:L82I;ENSP00000376497:L82I;ENSP00000341185:L82I	ENSP00000308894:L82I	L	+	1	0	RNF32	156130182	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	5.029000	0.64121	2.403000	0.81681	0.655000	0.94253	CTT		0.353	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936		16	658	1	0	4.16121e-05	4.16121e-05	0.00757574	16	658				
BAGE2	85319	broad.mit.edu	37	21	11098910	11098910	+	RNA	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr21:11098910G>A	ENST00000470054.1	-	0	15							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gcagctcagcgggagatacca	0.587																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098910G>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098910G>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	15	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.587	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	21	0	0	0	2.56e-06	0	3	21				
SPTA1	6708	broad.mit.edu	37	1	158592860	158592860	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:158592860G>T	ENST00000368147.4	-	43	6213	c.6033C>A	c.(6031-6033)gcC>gcA	p.A2011A		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2011					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.A2011A(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCAGCAGAGCGGCATAACGCT	0.478																																						ENST00000368148.3																			2	Substitution - coding silent(2)	p.A2011A(2)	prostate(1)|lung(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(6031-6033)gcC>gcA		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							265.0	265.0	265.0					1																	158592860		1942	4142	6084	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158592860G>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6033C>A	1.37:g.158592860G>T						SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Silent_p.A2008A	p.A2011A	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			43	6213	-	all_hematologic(112;0.0378)		2011					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.6033C>A	CCDS41423.1																																																																																				0.478	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		13	1356	1	0	2.17888e-05	2.17888e-05	0.00444706	13	1356				
B3GNT2	10678	broad.mit.edu	37	2	62449693	62449693	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:62449693C>A	ENST00000301998.4	+	2	590	c.338C>A	c.(337-339)cCg>cAg	p.P113Q	B3GNT2_ENST00000405767.1_Missense_Mutation_p.P113Q	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	113					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			AACAACTTGCCGGACAGATTT	0.483																																						ENST00000301998.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18						c.(337-339)cCg>cAg		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2							171.0	193.0	185.0					2																	62449693		2203	4300	6503	SO:0001583	missense	10678					Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:62449693C>A	AB049584	CCDS1870.1	2p15	2013-02-19	2006-04-12	2006-04-12	ENSG00000170340	ENSG00000170340		"""Beta 3-glycosyltransferases"""	15629	protein-coding gene	gene with protein product		605581	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1"""	B3GNT1		9892646, 11042166	Standard	NM_006577		Approved	B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1	uc002sbs.3	Q9NY97	OTTHUMG00000129444	ENST00000301998.4:c.338C>A	2.37:g.62449693C>A	ENSP00000305595:p.Pro113Gln					B3GNT2_ENST00000405767.1_Missense_Mutation_p.P113Q	p.P113Q	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)		2	590	+	Lung NSC(7;0.031)|all_lung(7;0.0634)		113					Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Missense_Mutation	SNP	ENST00000301998.4	37	c.338C>A	CCDS1870.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099982	0.76983	.	.	ENSG00000170340	ENST00000301998;ENST00000405767	T;T	0.32753	1.44;1.44	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.61362	0.2341	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.63594	-0.6602	10	0.66056	D	0.02	.	19.9598	0.97242	0.0:1.0:0.0:0.0	.	113	Q9NY97	B3GN2_HUMAN	Q	113	ENSP00000305595:P113Q;ENSP00000384692:P113Q	ENSP00000305595:P113Q	P	+	2	0	B3GNT2	62303197	1.000000	0.71417	0.991000	0.47740	0.717000	0.41224	6.071000	0.71229	2.716000	0.92895	0.655000	0.94253	CCG		0.483	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251606.2	NM_006577		15	1276	1	0	4.3838e-07	9.31168e-06	0.00012363	15	1276				
SPZ1	84654	broad.mit.edu	37	5	79616461	79616461	+	Missense_Mutation	SNP	G	G	C			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:79616461G>C	ENST00000296739.4	+	1	672	c.427G>C	c.(427-429)Gag>Cag	p.E143Q		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	143					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AAAGAAACAGGAGATGATATT	0.358																																						ENST00000296739.4																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26						c.(427-429)Gag>Cag		spermatogenic leucine zipper 1							97.0	86.0	90.0					5																	79616461		1837	4096	5933	SO:0001583	missense	84654				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:79616461G>C		CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.427G>C	5.37:g.79616461G>C	ENSP00000369611:p.Glu143Gln						p.E143Q	NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)	1	672	+		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)	143					B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	c.427G>C	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	G	6.225	0.409715	0.11812	.	.	ENSG00000164299	ENST00000511881;ENST00000296739	T;T	0.50277	0.75;1.37	0.904	0.904	0.19302	.	.	.	.	.	T	0.18676	0.0448	N	0.08118	0	0.09310	N	1	P	0.37101	0.582	B	0.32583	0.148	T	0.10567	-1.0624	9	0.12430	T	0.62	.	3.1765	0.06570	0.3021:0.0:0.6979:0.0	.	143	Q9BXG8	SPZ1_HUMAN	Q	143	ENSP00000426530:E143Q;ENSP00000369611:E143Q	ENSP00000369611:E143Q	E	+	1	0	SPZ1	79652217	0.997000	0.39634	0.050000	0.19076	0.132000	0.20833	0.224000	0.17738	0.774000	0.33427	0.313000	0.20887	GAG		0.358	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		8	527	0	0	0	3.86212e-05	0	8	527				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	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>gAt		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>T	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>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	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>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	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		78	304	0	0	0	2.47226e-05	0	78	304				
SPOPL	339745	broad.mit.edu	37	2	139326586	139326586	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:139326586G>T	ENST00000280098.4	+	11	1494	c.1115G>T	c.(1114-1116)cGa>cTa	p.R372L	AC092620.2_ENST00000458007.2_RNA	NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	372					negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GAAGCCTTTCGAGCACTAGCA	0.423																																						ENST00000280098.4																			0				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21						c.(1114-1116)cGa>cTa		speckle-type POZ protein-like							260.0	260.0	260.0					2																	139326586		2203	4300	6503	SO:0001583	missense	339745					nucleus		g.chr2:139326586G>T		CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"""BTB/POZ domain containing"""	27934	protein-coding gene	gene with protein product	"""HIB homolog 2"", ""roadkill homolog 2"""						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.1115G>T	2.37:g.139326586G>T	ENSP00000280098:p.Arg372Leu						p.R372L	NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0296)	11	1494	+			372						Missense_Mutation	SNP	ENST00000280098.4	37	c.1115G>T	CCDS33298.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933375	0.92458	.	.	ENSG00000144228	ENST00000280098	T	0.71461	-0.57	5.97	5.97	0.96955	.	0.058159	0.64402	D	0.000001	T	0.79953	0.4535	L	0.58810	1.83	0.80722	D	1	D	0.58268	0.982	P	0.57057	0.812	T	0.76812	-0.2821	9	.	.	.	-11.9914	20.428	0.99075	0.0:0.0:1.0:0.0	.	372	Q6IQ16	SPOPL_HUMAN	L	372	ENSP00000280098:R372L	.	R	+	2	0	SPOPL	139043056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.837000	0.97791	0.655000	0.94253	CGA		0.423	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331897.1			28	1377	1	0	8.34094e-07	1.15919e-05	0.000228692	28	1377				
TTN	7273	broad.mit.edu	37	2	179598474	179598474	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:179598474G>T	ENST00000591111.1	-	51	14915	c.14691C>A	c.(14689-14691)atC>atA	p.I4897I	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.I3970I|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.I5214I			Q8WZ42	TITIN_HUMAN	titin	12289	Ig-like 29.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTCATTTTGATTTTTCCGT	0.453																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(15640-15642)atC>atA		titin							202.0	191.0	195.0					2																	179598474		1904	4138	6042	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179598474G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14691C>A	2.37:g.179598474G>T						TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.I3970I|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.I4897I|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	p.I5214I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		53	15866	-			4897			Ig-like 32.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.15642C>A																																																																																					0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	744	1	0	5.49717e-05	5.49717e-05	0.00966016	20	744				
ZNF461	92283	broad.mit.edu	37	19	37130742	37130742	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:37130742G>T	ENST00000588268.1	-	6	732	c.505C>A	c.(505-507)Cat>Aat	p.H169N	ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Missense_Mutation_p.H146N	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATGTTTTCATGGTTAATCATA	0.358																																						ENST00000588268.1																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29						c.(505-507)Cat>Aat		zinc finger protein 461							238.0	228.0	231.0					19																	37130742		1842	4102	5944	SO:0001583	missense	92283				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37130742G>T	BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.505C>A	19.37:g.37130742G>T	ENSP00000467931:p.His169Asn					ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Missense_Mutation_p.H146N	p.H169N	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		6	732	-	Esophageal squamous(110;0.198)		169					A8K9W9|Q6VSF7|Q9ULZ8	Missense_Mutation	SNP	ENST00000588268.1	37	c.505C>A	CCDS54257.1	.	.	.	.	.	.	.	.	.	.	G	0.120	-1.127098	0.01770	.	.	ENSG00000197808	ENST00000396893;ENST00000360357;ENST00000540605;ENST00000396892	T	0.05855	3.38	3.87	0.209	0.15226	.	.	.	.	.	T	0.04679	0.0127	L	0.39898	1.24	0.09310	N	1	B;B;B	0.13145	0.004;0.007;0.007	B;B;B	0.08055	0.002;0.003;0.003	T	0.45056	-0.9287	9	0.19590	T	0.45	.	3.5785	0.07943	0.2434:0.2122:0.5444:0.0	.	146;91;169	B4DRP8;Q59G30;Q8TAF7	.;.;ZN461_HUMAN	N	169;146;42;104	ENSP00000353515:H146N	ENSP00000353515:H146N	H	-	1	0	ZNF461	41822582	0.004000	0.15560	0.001000	0.08648	0.041000	0.13682	0.721000	0.25911	0.399000	0.25367	-0.150000	0.13652	CAT		0.358	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257		14	976	1	0	9.31168e-06	9.31168e-06	0.00207751	14	976				
SSH1	54434	broad.mit.edu	37	12	109212031	109212031	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:109212031G>T	ENST00000326495.5	-	4	366	c.273C>A	c.(271-273)atC>atA	p.I91I	SSH1_ENST00000551165.1_Silent_p.I91I|SSH1_ENST00000360239.3_5'UTR|SSH1_ENST00000326470.5_Silent_p.I102I|SSH1_ENST00000546812.1_Intron	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	91					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTACCAGCTTGATTCTGTCTT	0.418																																						ENST00000326495.5																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(271-273)atC>atA		slingshot protein phosphatase 1							100.0	99.0	99.0					12																	109212031		2203	4300	6503	SO:0001819	synonymous_variant	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109212031G>T	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.273C>A	12.37:g.109212031G>T						SSH1_ENST00000360239.3_5'UTR|SSH1_ENST00000546812.1_Intron|SSH1_ENST00000326470.5_Silent_p.I102I|SSH1_ENST00000551165.1_Silent_p.I91I	p.I91I	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN			4	366	-			91					Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Silent	SNP	ENST00000326495.5	37	c.273C>A	CCDS9121.1																																																																																				0.418	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		17	775	1	0	1.32003e-05	1.32003e-05	0.00283396	17	775				
ABCA4	24	broad.mit.edu	37	1	94466426	94466426	+	Nonsense_Mutation	SNP	G	G	A	rs61750654		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:94466426G>A	ENST00000370225.3	-	47	6531	c.6445C>T	c.(6445-6447)Cga>Tga	p.R2149*	ABCA4_ENST00000536513.1_Nonsense_Mutation_p.R419*|ABCA4_ENST00000465352.1_5'Flank|ABCA4_ENST00000535881.1_Nonsense_Mutation_p.R268*	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2149	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.		R -> L (in STGD1).		phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCCATACATCGAAAGGCGCCC	0.562																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147	GRCh37	CM990078	ABCA4	M	rs140142529	c.(6445-6447)Cga>Tga		ATP-binding cassette, sub-family A (ABC1), member 4		G	stop/ARG	0,4406		0,0,2203	159.0	124.0	136.0		6445	5.8	1.0	1	dbSNP_134	136	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	ABCA4	NM_000350.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2149/2274	94466426	1,13005	2203	4300	6503	SO:0001587	stop_gained	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94466426G>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6445C>T	1.37:g.94466426G>A	ENSP00000359245:p.Arg2149*					ABCA4_ENST00000536513.1_Nonsense_Mutation_p.R419*|ABCA4_ENST00000535881.1_Nonsense_Mutation_p.R268*	p.R2149*	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	47	6531	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	2149		R -> L (in STGD1).	ABC transporter 2.		O15112|O60438|O60915|Q0QD48|Q4LE31	Nonsense_Mutation	SNP	ENST00000370225.3	37	c.6445C>T	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	38	6.739809	0.97801	0.0	1.16E-4	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	.	.	.	5.84	5.84	0.93424	.	0.166997	0.50627	D	0.000112	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0922	0.59172	0.0:0.0:0.7351:0.2649	rs61750654	.	.	.	X	941;2149;419;268	.	ENSP00000359245:R2149X	R	-	1	2	ABCA4	94239014	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.696000	0.68287	2.779000	0.95612	0.655000	0.94253	CGA		0.562	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		48	325	0	0	0	2.47226e-05	0	48	325				
KMO	8564	broad.mit.edu	37	1	241714324	241714324	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:241714324C>A	ENST00000366559.4	+	4	603	c.292C>A	c.(292-294)Ccc>Acc	p.P98T	KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366558.3_Missense_Mutation_p.P98T|KMO_ENST00000366557.4_Missense_Mutation_p.P98T	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)											NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GTCTGCAATTCCCTATGGGAC	0.413																																						ENST00000366559.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33						c.(292-294)Ccc>Acc		kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)							162.0	158.0	159.0					1																	241714324		2203	4300	6503	SO:0001583	missense	8564				pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity	g.chr1:241714324C>A	AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.292C>A	1.37:g.241714324C>A	ENSP00000355517:p.Pro98Thr					KMO_ENST00000366558.3_Missense_Mutation_p.P98T|KMO_ENST00000366557.4_Missense_Mutation_p.P98T|KMO_ENST00000484628.1_3'UTR	p.P98T	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0176)		4	603	+	Ovarian(103;0.103)|all_lung(81;0.23)		98						Missense_Mutation	SNP	ENST00000366559.4	37	c.292C>A	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580937	0.65992	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.49432	0.78;0.78;0.78	6.17	6.17	0.99709	Monooxygenase, FAD-binding (1);	0.000000	0.85682	D	0.000000	T	0.72391	0.3454	M	0.87456	2.885	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.73708	0.981;0.981;0.977	T	0.72312	-0.4331	10	0.40728	T	0.16	.	16.3795	0.83443	0.0:1.0:0.0:0.0	.	98;98;98	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	T	98	ENSP00000355517:P98T;ENSP00000355516:P98T;ENSP00000355515:P98T	ENSP00000355515:P98T	P	+	1	0	KMO	239780947	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	2.444000	0.44890	2.941000	0.99782	0.655000	0.94253	CCC		0.413	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	NM_003679		11	675	1	0	4.3838e-07	9.31168e-06	0.00012363	11	675				
TTN	7273	broad.mit.edu	37	2	179583118	179583118	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:179583118C>T	ENST00000591111.1	-	83	23988	c.23764G>A	c.(23764-23766)Gca>Aca	p.A7922T	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A6995T|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.A8239T			Q8WZ42	TITIN_HUMAN	titin	12113	Ig-like 61.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTACTGTGCATAATCCTCT	0.398																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(24715-24717)Gca>Aca		titin							138.0	132.0	134.0					2																	179583118		1887	4115	6002	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179583118C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.23764G>A	2.37:g.179583118C>T	ENSP00000465570:p.Ala7922Thr					TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A6995T|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.A7922T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	p.A8239T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		85	24939	-			7922			Ig-like 65.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.24715G>A		.	.	.	.	.	.	.	.	.	.	C	14.74	2.626923	0.46840	.	.	ENSG00000155657	ENST00000342992	T	0.45276	0.9	6.16	6.16	0.99307	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55433	0.1920	M	0.79926	2.475	0.80722	D	1	B	0.31459	0.324	B	0.36418	0.224	T	0.56823	-0.7915	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	7922	Q8WZ42	TITIN_HUMAN	T	6995	ENSP00000343764:A6995T	ENSP00000343764:A6995T	A	-	1	0	TTN	179291363	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.607000	0.61133	2.937000	0.99478	0.650000	0.86243	GCA		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		45	272	0	0	0	2.47226e-05	0	45	272				
ZNF285	26974	broad.mit.edu	37	19	44892133	44892133	+	Missense_Mutation	SNP	C	C	T	rs140033872		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:44892133C>T	ENST00000330997.4	-	4	338	c.274G>A	c.(274-276)Gtg>Atg	p.V92M	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.V92M|ZNF285_ENST00000591679.1_Missense_Mutation_p.V99M	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	92					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)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TGAAGGTTCACGATATAATCC	0.418																																						ENST00000330997.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(274-276)Gtg>Atg		zinc finger protein 285							89.0	89.0	89.0					19																	44892133		2203	4300	6503	SO:0001583	missense	26974							g.chr19:44892133C>T	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.274G>A	19.37:g.44892133C>T	ENSP00000333595:p.Val92Met					CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.V99M|ZNF285_ENST00000544719.2_Missense_Mutation_p.V92M	p.V92M	NM_152354.3	NP_689567.3					4	338	-								Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.274G>A	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	T	4.739	0.137438	0.09032	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.07021	3.23	3.33	0.726	0.18248	.	.	.	.	.	T	0.02727	0.0082	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46871	-0.9160	9	0.23891	T	0.37	.	4.9771	0.14146	0.0:0.1211:0.4682:0.4107	.	116;92	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	M	115;92	ENSP00000333595:V92M	ENSP00000333595:V92M	V	-	1	0	ZNF285	49583973	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.764000	0.04735	-0.369000	0.08028	-0.566000	0.04163	GTG		0.418	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		12	717	0	0	0	5.50884e-06	0	12	717				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		7	182	0	0	0	2.0095e-06	0	7	182				
PUS1	80324	broad.mit.edu	37	12	132426520	132426520	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:132426520G>A	ENST00000376649.3	+	5	1728	c.1228G>A	c.(1228-1230)Ggc>Agc	p.G410S	PUS1_ENST00000542167.2_Missense_Mutation_p.G357S|PUS1_ENST00000443358.2_Missense_Mutation_p.G382S|PUS1_ENST00000535067.1_Intron|PUS1_ENST00000440818.2_Missense_Mutation_p.G382S	NM_025215.5	NP_079491.2	Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	410					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|tRNA pseudouridine synthesis (GO:0031119)	mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|pseudouridylate synthase activity (GO:0004730)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		AGGTGGCACGGGCGCCAAGGT	0.612																																					Esophageal Squamous(102;671 2009 17384 45666)	ENST00000542167.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11						c.(1069-1071)Ggc>Agc		pseudouridylate synthase 1							21.0	16.0	18.0					12																	132426520		2196	4280	6476	SO:0001583	missense	80324					mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding	g.chr12:132426520G>A	AF116238	CCDS9275.2, CCDS31928.1	12q24	2004-05-17			ENSG00000177192	ENSG00000177192			15508	protein-coding gene	gene with protein product		608109				10094309	Standard	NM_001002019		Approved		uc001ujf.3	Q9Y606	OTTHUMG00000128507	ENST00000376649.3:c.1228G>A	12.37:g.132426520G>A	ENSP00000365837:p.Gly410Ser					PUS1_ENST00000376649.3_Missense_Mutation_p.G410S|PUS1_ENST00000443358.2_Missense_Mutation_p.G382S|PUS1_ENST00000440818.2_Missense_Mutation_p.G382S|PUS1_ENST00000535067.1_Intron	p.G357S			Q9Y606	TRUA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)	4	1822	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		410					A8K877|B3KQC1|Q8WYT2|Q9BU44	Missense_Mutation	SNP	ENST00000376649.3	37	c.1069G>A	CCDS9275.2	.	.	.	.	.	.	.	.	.	.	G	13.91	2.378889	0.42207	.	.	ENSG00000177192	ENST00000443358;ENST00000376649;ENST00000322060;ENST00000440818;ENST00000542167	T;T;T;T;T	0.54279	0.62;0.6;0.58;0.62;0.62	4.58	3.69	0.42338	.	0.639198	0.14819	N	0.296581	T	0.44265	0.1285	L	0.44542	1.39	0.09310	N	1	P;B	0.38078	0.617;0.005	B;B	0.37144	0.242;0.002	T	0.30416	-0.9979	10	0.49607	T	0.09	-10.2033	10.0242	0.42061	0.0981:0.0:0.9019:0.0	.	357;410	F5H1S9;Q9Y606	.;TRUA_HUMAN	S	382;410;382;382;357	ENSP00000392451:G382S;ENSP00000365837:G410S;ENSP00000324726:G382S;ENSP00000400032:G382S;ENSP00000438948:G357S	ENSP00000324726:G382S	G	+	1	0	PUS1	130992473	0.017000	0.18338	0.001000	0.08648	0.009000	0.06853	1.937000	0.40193	1.034000	0.39945	0.491000	0.48974	GGC		0.612	PUS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250313.2	NM_025215		8	88	0	0	0	3.86212e-05	0	8	88				
C20orf24	55969	broad.mit.edu	37	20	35236149	35236149	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr20:35236149G>T	ENST00000373852.5	+	2	281	c.146G>T	c.(145-147)cGa>cTa	p.R49L	C20orf24_ENST00000342422.3_Missense_Mutation_p.R49L|C20orf24_ENST00000344795.3_Missense_Mutation_p.R49L|TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.R75L			Q9BUV8	CT024_HUMAN	chromosome 20 open reading frame 24	49								p.R49L(2)		breast(1)|kidney(1)|lung(2)	4	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				TACTGGTTCCGACAGATCATT	0.423																																						ENST00000344795.3																			2	Substitution - Missense(2)	p.R49L(2)	lung(2)	breast(1)|kidney(1)|lung(2)	4						c.(145-147)cGa>cTa		chromosome 20 open reading frame 24							176.0	162.0	167.0					20																	35236149		2203	4300	6503	SO:0001583	missense	55969							g.chr20:35236149G>T	AF112213	CCDS13279.1, CCDS13280.1, CCDS56190.1	20q11.23	2011-01-25			ENSG00000101084	ENSG00000101084			15870	protein-coding gene	gene with protein product						15178406	Standard	NM_018840		Approved	PNAS-11, RIP5		Q9BUV8	OTTHUMG00000032384	ENST00000373852.5:c.146G>T	20.37:g.35236149G>T	ENSP00000362958:p.Arg49Leu					C20orf24_ENST00000373852.5_Missense_Mutation_p.R49L|TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.R75L|C20orf24_ENST00000342422.3_Missense_Mutation_p.R49L	p.R49L	NM_001199534.1|NM_018840.4	NP_001186463.1|NP_061328.1					2	364	+	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)						E1P5U0|O00605|Q5QPG6|Q5QPG7|Q9BT03|Q9BZU7|Q9UI05	Missense_Mutation	SNP	ENST00000373852.5	37	c.146G>T	CCDS56190.1	.	.	.	.	.	.	.	.	.	.	G	35	5.526283	0.96431	.	.	ENSG00000101084	ENST00000344795;ENST00000373852;ENST00000342422	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.85039	0.5606	M	0.89287	3.02	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.999;0.998;0.991;0.995	D	0.87290	0.2298	9	0.87932	D	0	-22.6447	17.5412	0.87848	0.0:0.0:1.0:0.0	.	49;49;49;49;49	Q9BUV8;Q5QPG6;Q9BUV8-2;Q9BUV8-3;Q9BUV8-4	CT024_HUMAN;.;.;.;.	L	49	.	ENSP00000341213:R49L	R	+	2	0	C20orf24	34669563	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.225000	0.95219	2.722000	0.93159	0.655000	0.94253	CGA		0.423	C20orf24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079006.1	NM_018840		8	416	1	0	1.49906e-05	1.49906e-05	0.0031734	8	416				
ANKRD30A	91074	broad.mit.edu	37	10	37431050	37431050	+	Missense_Mutation	SNP	G	G	C	rs201391167		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr10:37431050G>C	ENST00000602533.1	+	7	1156	c.1057G>C	c.(1057-1059)Gca>Cca	p.A353P	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A353P|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.A353P			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	409					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A353P(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTACGTGGGCAGCAAAAGG	0.408																																						ENST00000374660.1																			1	Substitution - Missense(1)	p.A353P(1)	lung(1)	NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(1057-1059)Gca>Cca		ankyrin repeat domain 30A							102.0	102.0	102.0					10																	37431050		1853	4086	5939	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37431050G>C	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1057G>C	10.37:g.37431050G>C	ENSP00000473551:p.Ala353Pro					ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A353P|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A353P	p.A353P			Q9BXX3	AN30A_HUMAN			7	1156	+			409					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1057G>C		.	.	.	.	.	.	.	.	.	.	.	2.178	-0.388156	0.04932	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.39592	1.19;1.07	.	.	.	.	.	.	.	.	T	0.28300	0.0699	N	0.08118	0	0.09310	N	1	P	0.48350	0.909	P	0.51297	0.665	T	0.16188	-1.0411	7	0.33141	T	0.24	.	.	.	.	.	409	Q9BXX3	AN30A_HUMAN	P	353	ENSP00000354432:A353P;ENSP00000363792:A353P	ENSP00000354432:A353P	A	+	1	0	ANKRD30A	37471056	0.782000	0.28689	0.179000	0.23059	0.179000	0.23085	-0.616000	0.05591	0.088000	0.17205	0.089000	0.15464	GCA		0.408	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		8	548	0	0	0	1.12685e-05	0	8	548				
ZMYM4	9202	broad.mit.edu	37	1	35859318	35859318	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:35859318C>A	ENST00000314607.6	+	18	2969	c.2889C>A	c.(2887-2889)acC>acA	p.T963T	ZMYM4_ENST00000373297.2_Silent_p.T874T	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	963					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AACCACATACCCAAAACAAAG	0.393																																						ENST00000314607.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(2887-2889)acC>acA		zinc finger, MYM-type 4							118.0	106.0	110.0					1																	35859318		2203	4300	6503	SO:0001819	synonymous_variant	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35859318C>A	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.2889C>A	1.37:g.35859318C>A						ZMYM4_ENST00000373297.2_Silent_p.T874T	p.T963T	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN			18	2969	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	963					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Silent	SNP	ENST00000314607.6	37	c.2889C>A	CCDS389.1	.	.	.	.	.	.	.	.	.	.	C	9.029	0.986755	0.18889	.	.	ENSG00000146463	ENST00000457946	.	.	.	5.18	-1.85	0.07784	.	.	.	.	.	T	0.39989	0.1099	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32134	-0.9918	4	.	.	.	-0.0487	1.9559	0.03376	0.4888:0.1835:0.1729:0.1547	.	.	.	.	T	623	.	.	P	+	1	0	ZMYM4	35631905	0.666000	0.27475	0.994000	0.49952	0.990000	0.78478	-0.302000	0.08221	0.016000	0.14998	0.585000	0.79938	CCA		0.393	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		10	665	1	0	9.31168e-06	9.31168e-06	0.00207751	10	665				
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493																																						ENST00000603901.1																			1	Substitution - coding silent(1)	p.P203P(1)	prostate(1)																																																0							g.chr7:142482229T>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482229T>A								NR_001296.3						0	609	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		10	247	0	0	0	1.15919e-05	0	10	247				
SLITRK4	139065	broad.mit.edu	37	X	142716900	142716900	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chrX:142716900G>T	ENST00000381779.4	-	2	2250	c.2025C>A	c.(2023-2025)acC>acA	p.T675T	SLITRK4_ENST00000356928.1_Silent_p.T675T|SLITRK4_ENST00000338017.4_Silent_p.T675T	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	675						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTTTTATTGGTTTTGTGGT	0.483																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(2023-2025)acC>acA		SLIT and NTRK-like family, member 4							123.0	125.0	124.0					X																	142716900		2203	4300	6503	SO:0001819	synonymous_variant	139065					integral to membrane		g.chrX:142716900G>T	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.2025C>A	X.37:g.142716900G>T						SLITRK4_ENST00000356928.1_Silent_p.T675T|SLITRK4_ENST00000338017.4_Silent_p.T675T	p.T675T	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	2250	-	Acute lymphoblastic leukemia(192;6.56e-05)		675					Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	ENST00000381779.4	37	c.2025C>A	CCDS14679.1																																																																																				0.483	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		9	408	1	0	3.86212e-05	3.86212e-05	0.00711662	9	408				
C9orf135	138255	broad.mit.edu	37	9	72471475	72471475	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:72471475G>T	ENST00000377197.3	+	3	353	c.266G>T	c.(265-267)tGg>tTg	p.W89L	C9orf135_ENST00000466872.2_3'UTR|C9orf135_ENST00000527647.1_Missense_Mutation_p.W89L	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	89						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						TTCCAGATTTGGACATCAGAA	0.323																																						ENST00000377197.3																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						c.(265-267)tGg>tTg		chromosome 9 open reading frame 135							61.0	61.0	61.0					9																	72471475		2203	4300	6503	SO:0001583	missense	138255					integral to membrane		g.chr9:72471475G>T		CCDS35041.1	9q21.11	2013-06-07	2013-06-07	2013-06-07	ENSG00000204711	ENSG00000204711			31422	protein-coding gene	gene with protein product							Standard	XM_005251705		Approved		uc004ahl.3	Q5VTT2	OTTHUMG00000019985	ENST00000377197.3:c.266G>T	9.37:g.72471475G>T	ENSP00000366402:p.Trp89Leu					C9orf135_ENST00000466872.2_3'UTR|C9orf135_ENST00000527647.1_Missense_Mutation_p.W89L	p.W89L	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN			3	353	+			89					A7E2U4|B2RN61	Missense_Mutation	SNP	ENST00000377197.3	37	c.266G>T	CCDS35041.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.82|11.82	1.752791|1.752791	0.31046|0.31046	.|.	.|.	ENSG00000204711|ENSG00000204711	ENST00000480564|ENST00000377197;ENST00000527647	.|.	.|.	.|.	5.08|5.08	4.14|4.14	0.48551|0.48551	.|.	.|0.000000	.|0.49916	.|D	.|0.000133	T|T	0.66616|0.66616	0.2807|0.2807	L|L	0.59436|0.59436	1.845|1.845	0.36898|0.36898	D|D	0.890251|0.890251	.|D;D	.|0.71674	.|0.998;0.998	.|D;D	.|0.68943	.|0.961;0.948	T|T	0.65487|0.65487	-0.6156|-0.6156	5|9	.|0.16420	.|T	.|0.52	-6.8158|-6.8158	11.6367|11.6367	0.51209|0.51209	0.0:0.178:0.822:0.0|0.0:0.178:0.822:0.0	.|.	.|89;89	.|A7E2U4;Q5VTT2	.|.;CI135_HUMAN	F|L	62|89	.|.	.|ENSP00000366402:W89L	L|W	+|+	3|2	2|0	C9orf135|C9orf135	71661295|71661295	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.031000|0.031000	0.12232|0.12232	3.187000|3.187000	0.50950|0.50950	2.374000|2.374000	0.81015|0.81015	0.585000|0.585000	0.79938|0.79938	TTG|TGG		0.323	C9orf135-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052591.1	NM_001010940		8	289	1	0	7.48243e-07	2.17888e-05	0.000207656	8	289				
CNBD2	140894	broad.mit.edu	37	20	34596256	34596256	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr20:34596256C>A	ENST00000373973.3	+	9	1181	c.1008C>A	c.(1006-1008)atC>atA	p.I336I	CNBD2_ENST00000538900.1_Silent_p.I336I|CNBD2_ENST00000349339.1_Silent_p.I336I			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	336								p.I336I(1)									AATTCCAGATCAAATCATATC	0.408																																						ENST00000373973.3																			1	Substitution - coding silent(1)	p.I336I(1)	lung(1)								c.(1006-1008)atC>atA		cyclic nucleotide binding domain containing 2							101.0	113.0	109.0					20																	34596256		2203	4300	6503	SO:0001819	synonymous_variant	140894							g.chr20:34596256C>A	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1008C>A	20.37:g.34596256C>A						CNBD2_ENST00000349339.1_Silent_p.I336I|CNBD2_ENST00000538900.1_Silent_p.I336I	p.I336I							9	1181	+								Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Silent	SNP	ENST00000373973.3	37	c.1008C>A																																																																																					0.408	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		15	588	1	0	2.94398e-08	8.00594e-06	8.75768e-06	15	588				
ITGB6	3694	broad.mit.edu	37	2	160964209	160964209	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:160964209G>T	ENST00000283249.2	-	14	2486	c.2249C>A	c.(2248-2250)tCa>tAa	p.S750*	ITGB6_ENST00000428609.2_Nonsense_Mutation_p.S708*|ITGB6_ENST00000409967.2_Nonsense_Mutation_p.S643*|ITGB6_ENST00000409872.1_Nonsense_Mutation_p.S750*	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	750	Interaction with HAX1.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						CTTGGCTTTTGATCGTTCTGC	0.473																																						ENST00000283249.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(2248-2250)tCa>tAa		integrin, beta 6							165.0	157.0	160.0					2																	160964209		2203	4300	6503	SO:0001587	stop_gained	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:160964209G>T		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.2249C>A	2.37:g.160964209G>T	ENSP00000283249:p.Ser750*					ITGB6_ENST00000409872.1_Nonsense_Mutation_p.S750*|ITGB6_ENST00000428609.2_Nonsense_Mutation_p.S708*|ITGB6_ENST00000409967.2_Nonsense_Mutation_p.S643*	p.S750*			P18564	ITB6_HUMAN			14	2486	-			750			Interaction with HAX1.		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Nonsense_Mutation	SNP	ENST00000283249.2	37	c.2249C>A	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	G	41	8.884371	0.98990	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	.	.	.	5.79	5.79	0.91817	.	0.143292	0.49305	D	0.000152	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4254	0.44375	0.1438:0.0:0.8562:0.0	.	.	.	.	X	750;708;643;750	.	ENSP00000283249:S750X	S	-	2	0	ITGB6	160672455	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.488000	0.73637	2.739000	0.93911	0.655000	0.94253	TCA		0.473	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		16	608	1	0	1.64113e-05	1.64113e-05	0.00345808	16	608				
ZCCHC11	23318	broad.mit.edu	37	1	52911509	52911509	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:52911509C>A	ENST00000371544.3	-	24	4034	c.3772G>T	c.(3772-3774)Gga>Tga	p.G1258*	ZCCHC11_ENST00000257177.4_Nonsense_Mutation_p.G1258*	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1258					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						AGTTTCCTTCCATTGATAAAT	0.294																																						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.(3772-3774)Gga>Tga		zinc finger, CCHC domain containing 11							86.0	98.0	94.0					1																	52911509		2201	4295	6496	SO:0001587	stop_gained	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.chr1:52911509C>A	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.3772G>T	1.37:g.52911509C>A	ENSP00000360599:p.Gly1258*					ZCCHC11_ENST00000257177.4_Nonsense_Mutation_p.G1258*	p.G1258*	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			24	4034	-			1258					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Nonsense_Mutation	SNP	ENST00000371544.3	37	c.3772G>T	CCDS30716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.174853|4.174853	0.78564|0.78564	.|.	.|.	ENSG00000134744|ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000531722;ENST00000528642|ENST00000474453	.|.	.|.	.|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.052143|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76948	.|0.4059	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74253	.|-0.3725	.|4	0.87932|.	D|.	0|.	.|.	20.1665|20.1665	0.98152|0.98152	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	1258;1258;100;1187|107	.|.	ENSP00000257177:G1258X|.	G|W	-|-	1|2	0|0	ZCCHC11|ZCCHC11	52684097|52684097	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.466000|7.466000	0.80914|0.80914	2.770000|2.770000	0.95276|0.95276	0.650000|0.650000	0.86243|0.86243	GGA|TGG		0.294	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		10	732	1	0	5.50884e-06	5.50884e-06	0.00130912	10	732				
NCOR1	9611	broad.mit.edu	37	17	15978856	15978856	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:15978856G>T	ENST00000268712.3	-	27	3919	c.3662C>A	c.(3661-3663)tCa>tAa	p.S1221*	NCOR1_ENST00000395851.1_Nonsense_Mutation_p.S1237*|NCOR1_ENST00000395857.3_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1221	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACTATCATATGACAAGATATG	0.423																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(3661-3663)tCa>tAa		nuclear receptor corepressor 1							236.0	214.0	221.0					17																	15978856		2203	4300	6503	SO:0001587	stop_gained	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15978856G>T	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3662C>A	17.37:g.15978856G>T	ENSP00000268712:p.Ser1221*					NCOR1_ENST00000395851.1_Nonsense_Mutation_p.S1237*|NCOR1_ENST00000395857.3_Intron	p.S1221*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	27	3919	-			1221			Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Nonsense_Mutation	SNP	ENST00000268712.3	37	c.3662C>A	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	39	7.794547	0.98492	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0796	19.3193	0.94231	0.0:0.0:1.0:0.0	.	.	.	.	X	1221;1237;1128	.	ENSP00000268712:S1221X	S	-	2	0	NCOR1	15919581	1.000000	0.71417	0.982000	0.44146	0.980000	0.70556	9.238000	0.95380	2.797000	0.96272	0.655000	0.94253	TCA		0.423	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		12	623	1	0	5.50884e-06	5.50884e-06	0.00130912	12	623				
MAP2K6	5608	broad.mit.edu	37	17	67519707	67519707	+	Nonsense_Mutation	SNP	C	C	A	rs143627401		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:67519707C>A	ENST00000590474.1	+	8	875	c.588C>A	c.(586-588)tgC>tgA	p.C196*	MAP2K6_ENST00000589647.1_Nonsense_Mutation_p.C140*	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	196	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					TGAAGATGTGCGATTTTGGAA	0.448																																						ENST00000590474.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20						c.(586-588)tgC>tgA		mitogen-activated protein kinase kinase 6							332.0	294.0	307.0					17																	67519707		2203	4300	6503	SO:0001587	stop_gained	5608				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:67519707C>A	U39064	CCDS11686.1	17q	2011-06-09						"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6846	protein-coding gene	gene with protein product	"""protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"""	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.588C>A	17.37:g.67519707C>A	ENSP00000468348:p.Cys196*					MAP2K6_ENST00000589647.1_Nonsense_Mutation_p.C140*	p.C196*	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN			8	875	+	Breast(10;6.05e-10)		196			Protein kinase.			Nonsense_Mutation	SNP	ENST00000590474.1	37	c.588C>A	CCDS11686.1	.	.	.	.	.	.	.	.	.	.	C	37	6.576599	0.97676	.	.	ENSG00000108984	ENST00000359094	.	.	.	5.73	-1.1	0.09872	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.3369	12.9116	0.58182	0.0:0.2066:0.0:0.7934	.	.	.	.	X	196	.	.	C	+	3	2	MAP2K6	65031302	0.881000	0.30235	0.989000	0.46669	0.998000	0.95712	-0.053000	0.11846	-0.502000	0.06596	0.655000	0.94253	TGC		0.448	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	NM_002758		9	866	1	0	3.86212e-05	3.86212e-05	0.00711662	9	866				
IQCG	84223	broad.mit.edu	37	3	197665429	197665429	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:197665429G>T	ENST00000265239.6	-	5	929	c.505C>A	c.(505-507)Cag>Aag	p.Q169K	IQCG_ENST00000455191.1_Missense_Mutation_p.Q169K|IQCG_ENST00000480302.1_5'Flank|IQCG_ENST00000453254.1_Missense_Mutation_p.Q169K	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	169						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		CTATCAATCTGAATTTTCTTC	0.453																																						ENST00000265239.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(505-507)Cag>Aag		IQ motif containing G							210.0	201.0	204.0					3																	197665429		2203	4300	6503	SO:0001583	missense	84223							g.chr3:197665429G>T	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.505C>A	3.37:g.197665429G>T	ENSP00000265239:p.Gln169Lys					IQCG_ENST00000455191.1_Missense_Mutation_p.Q169K|IQCG_ENST00000453254.1_Missense_Mutation_p.Q169K	p.Q169K	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)	5	929	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		169					Q9BST2|Q9HAG8	Missense_Mutation	SNP	ENST00000265239.6	37	c.505C>A	CCDS3331.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.251946	0.80135	.	.	ENSG00000114473	ENST00000265239;ENST00000455191;ENST00000453254;ENST00000416896	T;T;T;T	0.57107	0.66;0.66;0.96;0.42	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.73560	0.3602	M	0.81341	2.54	0.46927	D	0.999252	P;D	0.89917	0.911;1.0	P;D	0.71656	0.558;0.974	T	0.75764	-0.3203	10	0.59425	D	0.04	-21.4276	16.5383	0.84377	0.0:0.0:1.0:0.0	.	169;169	C9JKX8;Q9H095	.;IQCG_HUMAN	K	169;169;169;150	ENSP00000265239:Q169K;ENSP00000407736:Q169K;ENSP00000389897:Q169K;ENSP00000406411:Q150K	ENSP00000265239:Q169K	Q	-	1	0	IQCG	199149826	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	3.181000	0.50903	2.759000	0.94783	0.558000	0.71614	CAG		0.453	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263		16	802	1	0	5.01169e-05	5.01169e-05	0.00884117	16	802				
ANAPC5	51433	broad.mit.edu	37	12	121773451	121773451	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:121773451C>A	ENST00000261819.3	-	7	956	c.835G>T	c.(835-837)Gat>Tat	p.D279Y	ANAPC5_ENST00000344395.4_Missense_Mutation_p.D180Y|ANAPC5_ENST00000441917.2_Missense_Mutation_p.D180Y|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Missense_Mutation_p.D279Y|ANAPC5_ENST00000536366.1_Missense_Mutation_p.D158Y	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	279					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATCAGACGATCAAAATAATGG	0.448																																						ENST00000261819.3																			0				breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31						c.(835-837)Gat>Tat		anaphase promoting complex subunit 5							114.0	113.0	113.0					12																	121773451		2203	4300	6503	SO:0001583	missense	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121773451C>A	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.835G>T	12.37:g.121773451C>A	ENSP00000261819:p.Asp279Tyr					ANAPC5_ENST00000441917.2_Missense_Mutation_p.D180Y|ANAPC5_ENST00000344395.4_Missense_Mutation_p.D180Y|ANAPC5_ENST00000541887.1_Missense_Mutation_p.D279Y|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000536366.1_Missense_Mutation_p.D158Y	p.D279Y	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN			7	956	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		279					E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	37	c.835G>T	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978590	0.92982	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000344395;ENST00000536366;ENST00000544442	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.85234	0.5650	M	0.87328	2.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.86425	0.1757	9	0.87932	D	0	.	19.6319	0.95708	0.0:1.0:0.0:0.0	.	180;279	E9PFB2;Q9UJX4	.;APC5_HUMAN	Y	180;279;279;180;158;180	.	ENSP00000261819:D279Y	D	-	1	0	ANAPC5	120257834	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.188000	0.77739	2.890000	0.99128	0.650000	0.86243	GAT		0.448	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			12	655	1	0	7.93312e-07	1.49906e-05	0.000218829	12	655				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			6	222	1	0	3.59834e-05	3.59834e-05	0.00691032	6	222				
FGD4	121512	broad.mit.edu	37	12	32778699	32778699	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:32778699C>A	ENST00000427716.2	+	14	2171	c.1747C>A	c.(1747-1749)Cga>Aga	p.R583R	FGD4_ENST00000531134.1_Silent_p.R668R|FGD4_ENST00000534526.2_Silent_p.R720R|FGD4_ENST00000546442.1_Silent_p.R490R|FGD4_ENST00000525053.1_Silent_p.R695R|FGD4_ENST00000266482.3_Silent_p.R335R	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	583					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GCATCATTGTCGAGCATGTGG	0.383																																						ENST00000427716.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(1747-1749)Cga>Aga		FYVE, RhoGEF and PH domain containing 4							139.0	136.0	137.0					12																	32778699		2203	4300	6503	SO:0001819	synonymous_variant	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32778699C>A	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.1747C>A	12.37:g.32778699C>A						FGD4_ENST00000266482.3_Silent_p.R335R|FGD4_ENST00000546442.1_Silent_p.R490R|FGD4_ENST00000525053.1_Silent_p.R695R|FGD4_ENST00000534526.2_Silent_p.R720R|FGD4_ENST00000531134.1_Silent_p.R668R	p.R583R	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN			14	2171	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		583					Q6ULS2|Q8TCP6	Silent	SNP	ENST00000427716.2	37	c.1747C>A	CCDS8727.1																																																																																				0.383	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		17	729	1	0	2.27731e-05	2.27731e-05	0.00456484	17	729				
LRRC7	57554	broad.mit.edu	37	1	70446077	70446077	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:70446077C>A	ENST00000035383.5	+	7	643	c.613C>A	c.(613-615)Caa>Aaa	p.Q205K	LRRC7_ENST00000310961.5_Missense_Mutation_p.Q210K|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	205						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.Q205K(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGTTCTGGATCAAATACAAAA	0.328																																						ENST00000310961.5																			1	Substitution - Missense(1)	p.Q205K(1)	lung(1)	breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(628-630)Caa>Aaa		leucine rich repeat containing 7							162.0	167.0	165.0					1																	70446077		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70446077C>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.613C>A	1.37:g.70446077C>A	ENSP00000035383:p.Gln205Lys					LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Missense_Mutation_p.Q205K	p.Q210K			Q96NW7	LRRC7_HUMAN			10	1046	+			205					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.628C>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679363	0.68042	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.23950	1.88;1.9	5.25	5.25	0.73442	.	0.059688	0.64402	D	0.000002	T	0.11153	0.0272	N	0.13168	0.305	0.80722	D	1	P	0.40197	0.706	B	0.43623	0.425	T	0.11299	-1.0593	10	0.25751	T	0.34	.	16.3726	0.83370	0.0:1.0:0.0:0.0	.	205	Q96NW7	LRRC7_HUMAN	K	210;205;28	ENSP00000309245:Q210K;ENSP00000035383:Q205K	ENSP00000035383:Q205K	Q	+	1	0	LRRC7	70218665	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.238000	0.78173	2.608000	0.88229	0.650000	0.86243	CAA		0.328	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		22	938	1	0	4.16121e-05	4.16121e-05	0.00757574	22	938				
NADSYN1	55191	broad.mit.edu	37	11	71189504	71189504	+	Silent	SNP	C	C	A	rs547470892	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:71189504C>A	ENST00000319023.2	+	10	1050	c.862C>A	c.(862-864)Cga>Aga	p.R288R	NADSYN1_ENST00000530055.1_5'Flank|NADSYN1_ENST00000539574.1_Silent_p.R28R	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	288	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	GATTTCATCTCGAAACCTGGC	0.577													C|||	2	0.000399361	0.0	0.0	5008	,	,		18967	0.0		0.0	False		,,,				2504	0.002				Ovarian(79;763 1781 6490 50276)	ENST00000319023.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(862-864)Cga>Aga		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						48.0	44.0	45.0					11																	71189504		2200	4294	6494	SO:0001819	synonymous_variant	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71189504C>A	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.862C>A	11.37:g.71189504C>A						NADSYN1_ENST00000539574.1_Silent_p.R28R	p.R288R	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN			10	1050	+			288			CN hydrolase.		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Silent	SNP	ENST00000319023.2	37	c.862C>A	CCDS8201.1																																																																																				0.577	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		5	61	1	0	3.59834e-05	3.59834e-05	0.00691032	5	61				
ZNF845	91664	broad.mit.edu	37	19	53855011	53855011	+	Silent	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:53855011C>T	ENST00000595091.1	+	5	1302	c.1083C>T	c.(1081-1083)gaC>gaT	p.D361D	ZNF845_ENST00000458035.1_Silent_p.D361D			Q96IR2	ZN845_HUMAN	zinc finger protein 845	361					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAGAATGTGACAAAGCTTTCA	0.388																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1081-1083)gaC>gaT		zinc finger protein 845							34.0	32.0	33.0					19																	53855011		692	1591	2283	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855011C>T	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1083C>T	19.37:g.53855011C>T						ZNF845_ENST00000595091.1_Silent_p.D361D	p.D361D	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1200	+			361						Silent	SNP	ENST00000595091.1	37	c.1083C>T	CCDS46170.1																																																																																				0.388	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		7	335	0	0	0	5.18039e-06	0	7	335				
CCRL2	9034	broad.mit.edu	37	3	46450404	46450404	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:46450404G>T	ENST00000399036.3	+	2	1186	c.834G>T	c.(832-834)ctG>ctT	p.L278L	CCRL2_ENST00000400880.3_Silent_p.L278L|CCRL2_ENST00000357392.4_Silent_p.L290L|RP11-24F11.2_ENST00000451485.1_RNA|CCRL2_ENST00000400882.2_Silent_p.L278L	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2	278					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CCR chemokine receptor binding (GO:0048020)|chemokine receptor activity (GO:0004950)|chemokine receptor binding (GO:0042379)			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		GCTACAATCTGGACAAAAGTG	0.458																																						ENST00000399036.3																			0											c.(832-834)ctG>ctT									238.0	248.0	244.0					3																	46450404		2171	4261	6432	SO:0001819	synonymous_variant	0							g.chr3:46450404G>T	AF014958	CCDS43079.1, CCDS46814.1	3p21	2013-07-18	2013-07-18	2013-07-18	ENSG00000121797	ENSG00000121797		"""GPCR / Class A : Chemokine receptors : Atypical"""	1612	protein-coding gene	gene with protein product	"""atypical chemokine receptor 5"""	608379				9473515	Standard	NM_001130910		Approved	HCR, CRAM-B, CKRX, CRAM-A, ACKR5	uc003cpp.4	O00421	OTTHUMG00000156318	ENST00000399036.3:c.834G>T	3.37:g.46450404G>T						ACKR5_ENST00000357392.4_Silent_p.L290L|ACKR5_ENST00000400882.2_Silent_p.L278L|ACKR5_ENST00000400880.3_Silent_p.L278L	p.L278L	NM_003965.4	NP_003956.2					2	1186	+								B4DKQ8|O75307|Q4VBB0|Q6IPX0|Q7KYQ9|Q96KP5|Q9UPG0	Silent	SNP	ENST00000399036.3	37	c.834G>T	CCDS43079.1																																																																																				0.458	CCRL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343909.2			19	1672	1	0	3.07112e-06	3.07112e-06	0.000789711	19	1672				
ZNF563	147837	broad.mit.edu	37	19	12429722	12429722	+	Missense_Mutation	SNP	T	T	C			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:12429722T>C	ENST00000293725.5	-	4	1322	c.1117A>G	c.(1117-1119)Acg>Gcg	p.T373A		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	373					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(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TGAGATAACGTTTTCCCACAC	0.413																																					GBM(39;623 795 5132 29510 31476)	ENST00000293725.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1117-1119)Acg>Gcg		zinc finger protein 563							191.0	181.0	184.0					19																	12429722		2203	4300	6503	SO:0001583	missense	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12429722T>C	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.1117A>G	19.37:g.12429722T>C	ENSP00000293725:p.Thr373Ala						p.T373A	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN			4	1322	-			373					B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	c.1117A>G	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.253024	0.00268	.	.	ENSG00000188868	ENST00000293725	T	0.03745	3.82	1.0	-1.65	0.08291	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01320	0.0043	N	0.05259	-0.085	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45963	-0.9225	9	0.02654	T	1	.	2.3025	0.04165	0.3613:0.2701:0.0:0.3686	.	373	Q8TA94	ZN563_HUMAN	A	373	ENSP00000293725:T373A	ENSP00000293725:T373A	T	-	1	0	ZNF563	12290722	0.000000	0.05858	0.003000	0.11579	0.233000	0.25261	-3.012000	0.00647	-0.501000	0.06605	-0.765000	0.03448	ACG		0.413	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		7	835	0	0	0	2.17888e-05	0	7	835				
CMYA5	202333	broad.mit.edu	37	5	79025398	79025398	+	Silent	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:79025398G>A	ENST00000446378.2	+	2	841	c.810G>A	c.(808-810)gaG>gaA	p.E270E		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	270					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTAGTCTAGAGCCAGATTTGG	0.353																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(808-810)gaG>gaA		cardiomyopathy associated 5							51.0	48.0	49.0					5																	79025398		1857	4091	5948	SO:0001819	synonymous_variant	202333					perinuclear region of cytoplasm		g.chr5:79025398G>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.810G>A	5.37:g.79025398G>A							p.E270E	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	841	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	270					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	c.810G>A	CCDS47238.1																																																																																				0.353	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		20	264	0	0	0	1.15919e-05	0	20	264				
ARHGEF10L	55160	broad.mit.edu	37	1	17958842	17958842	+	Silent	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:17958842G>A	ENST00000361221.3	+	16	1770	c.1611G>A	c.(1609-1611)ctG>ctA	p.L537L	ARHGEF10L_ENST00000452522.1_Silent_p.L498L|ARHGEF10L_ENST00000375420.3_Silent_p.L295L|ARHGEF10L_ENST00000375415.1_Silent_p.L498L|ARHGEF10L_ENST00000167825.4_Silent_p.L245L|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Silent_p.L315L|ARHGEF10L_ENST00000434513.1_Silent_p.L537L	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	537						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGCGGCAGCTGCTCCTGTGTG	0.627																																						ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(1609-1611)ctG>ctA		Rho guanine nucleotide exchange factor (GEF) 10-like							77.0	78.0	78.0					1																	17958842		2203	4300	6503	SO:0001819	synonymous_variant	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17958842G>A	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.1611G>A	1.37:g.17958842G>A						ARHGEF10L_ENST00000452522.1_Silent_p.L498L|ARHGEF10L_ENST00000167825.4_Silent_p.L245L|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375420.3_Silent_p.L295L|ARHGEF10L_ENST00000375415.1_Silent_p.L498L|ARHGEF10L_ENST00000434513.1_Silent_p.L537L|ARHGEF10L_ENST00000375408.3_Silent_p.L315L	p.L537L	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	16	1770	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	537					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Silent	SNP	ENST00000361221.3	37	c.1611G>A	CCDS182.1																																																																																				0.627	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		85	473	0	0	0	2.47226e-05	0	85	473				
FMN2	56776	broad.mit.edu	37	1	240371373	240371373	+	Silent	SNP	A	A	T	rs199766654	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:240371373A>T	ENST00000319653.9	+	5	3491	c.3261A>T	c.(3259-3261)ccA>ccT	p.P1087P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1087	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCATACCCCCACCTCCCCCTC	0.726																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3259-3261)ccA>ccT		formin 2							4.0	5.0	4.0					1																	240371373		1745	3543	5288	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371373A>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3261A>T	1.37:g.240371373A>T							p.P1087P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3491	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1087			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.3261A>T	CCDS31069.2																																																																																				0.726	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		5	86	0	0	0	3.59834e-05	0	5	86				
PPFIA1	8500	broad.mit.edu	37	11	70172768	70172768	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:70172768C>A	ENST00000253925.7	+	7	989	c.774C>A	c.(772-774)atC>atA	p.I258I	CTA-797E19.2_ENST00000526017.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.I258I|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	258					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)			TCCAAGAAATCATAAGTAAGC	0.433																																						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.(772-774)atC>atA		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1							191.0	201.0	197.0					11																	70172768		2200	4294	6494	SO:0001819	synonymous_variant	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70172768C>A	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.774C>A	11.37:g.70172768C>A						PPFIA1_ENST00000389547.3_Silent_p.I258I|AP000487.6_ENST00000528607.1_RNA|CTA-797E19.2_ENST00000526017.1_RNA	p.I258I	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)		7	989	+			258					A6NLE3|Q13135|Q14567|Q8N4I2	Silent	SNP	ENST00000253925.7	37	c.774C>A	CCDS31627.1																																																																																				0.433	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		28	1323	1	0	2.27731e-05	2.27731e-05	0.00456484	28	1323				
HEATR9	256957	broad.mit.edu	37	17	34182158	34182158	+	Nonsense_Mutation	SNP	G	G	T	rs114102494	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:34182158G>T	ENST00000311880.2	-	15	1770	c.1622C>A	c.(1621-1623)tCg>tAg	p.S541*	C17orf66_ENST00000592980.1_Nonsense_Mutation_p.S501*	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		541					hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TCGTGGTTTCGAGCAGCACGG	0.478																																						ENST00000311880.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38						c.(1621-1623)tCg>tAg		chromosome 17 open reading frame 66							179.0	159.0	166.0					17																	34182158		2203	4300	6503	SO:0001587	stop_gained	256957						binding	g.chr17:34182158G>T																												ENST00000311880.2:c.1622C>A	17.37:g.34182158G>T	ENSP00000309560:p.Ser541*					C17orf66_ENST00000592980.1_Nonsense_Mutation_p.S501*	p.S541*	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	15	1770	-		Ovarian(249;0.17)	541					B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Nonsense_Mutation	SNP	ENST00000311880.2	37	c.1622C>A	CCDS11299.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285540	0.59867	.	.	ENSG00000172653	ENST00000311880	.	.	.	3.32	1.31	0.21738	.	0.687649	0.12769	N	0.440695	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.3942	0.16261	0.2631:0.0:0.7369:0.0	.	.	.	.	X	541	.	ENSP00000309560:S541X	S	-	2	0	C17orf66	31206271	0.005000	0.15991	0.001000	0.08648	0.016000	0.09150	0.204000	0.17335	0.419000	0.25927	0.591000	0.81541	TCG		0.478	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			14	690	1	0	5.01169e-05	5.01169e-05	0.00884117	14	690				
PTPN4	5775	broad.mit.edu	37	2	120692428	120692428	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:120692428G>T	ENST00000263708.2	+	15	2020	c.1249G>T	c.(1249-1251)Ggt>Tgt	p.G417C	PTPN4_ENST00000544261.1_Missense_Mutation_p.G50C	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	417					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ATCTTCAGTTGGTCATTTGGT	0.388																																						ENST00000263708.2																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30						c.(1249-1251)Ggt>Tgt		protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	Alendronate(DB00630)						139.0	124.0	129.0					2																	120692428		2203	4300	6503	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120692428G>T		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.1249G>T	2.37:g.120692428G>T	ENSP00000263708:p.Gly417Cys					PTPN4_ENST00000544261.1_Missense_Mutation_p.G50C	p.G417C	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN			15	2020	+			417					B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.1249G>T	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	G	31	5.079925	0.94050	.	.	ENSG00000088179	ENST00000263708;ENST00000544261;ENST00000431283	T;T;T	0.68479	-0.33;-0.33;-0.33	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.81297	0.4793	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.81254	-0.1016	10	0.72032	D	0.01	.	20.3046	0.98621	0.0:0.0:1.0:0.0	.	417	P29074	PTN4_HUMAN	C	417;50;43	ENSP00000263708:G417C;ENSP00000445841:G50C;ENSP00000387457:G43C	ENSP00000263708:G417C	G	+	1	0	PTPN4	120408898	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.847000	0.92166	2.878000	0.98634	0.650000	0.86243	GGT		0.388	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			12	556	1	0	5.01169e-05	5.01169e-05	0.00884117	12	556				
STAT1	6772	broad.mit.edu	37	2	191847210	191847210	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:191847210C>T	ENST00000361099.3	-	18	1868	c.1481G>A	c.(1480-1482)cGa>cAa	p.R494Q	STAT1_ENST00000392323.2_Missense_Mutation_p.R496Q|STAT1_ENST00000392322.3_Missense_Mutation_p.R494Q|STAT1_ENST00000409465.1_Missense_Mutation_p.R494Q|STAT1_ENST00000540176.1_3'UTR	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	494					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			CTGAGCCCATCGTGCACATGG	0.463																																						ENST00000361099.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1480-1482)cGa>cAa		signal transducer and activator of transcription 1, 91kDa	Fludarabine(DB01073)						101.0	101.0	101.0					2																	191847210		2203	4300	6503	SO:0001583	missense	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191847210C>T		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1481G>A	2.37:g.191847210C>T	ENSP00000354394:p.Arg494Gln					STAT1_ENST00000409465.1_Missense_Mutation_p.R494Q|STAT1_ENST00000392322.3_Missense_Mutation_p.R494Q|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392323.2_Missense_Mutation_p.R496Q	p.R494Q	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		18	1868	-			494					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	c.1481G>A	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112096	0.37242	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	5.31	3.15	0.36227	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.310219	0.34932	N	0.003580	T	0.61986	0.2391	L	0.31664	0.95	0.18873	N	0.999986	B;B	0.20780	0.048;0.005	B;B	0.17098	0.016;0.017	T	0.41945	-0.9480	10	0.12766	T	0.61	-3.6255	10.1437	0.42751	0.0:0.7608:0.0:0.2392	.	494;494	P42224-2;P42224	.;STAT1_HUMAN	Q	494;494;494;496	ENSP00000354394:R494Q;ENSP00000386244:R494Q;ENSP00000376136:R494Q;ENSP00000376137:R496Q	ENSP00000354394:R494Q	R	-	2	0	STAT1	191555455	0.002000	0.14202	0.932000	0.37286	0.981000	0.71138	0.290000	0.18975	1.304000	0.44892	0.655000	0.94253	CGA		0.463	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		44	465	0	0	0	1.39061e-05	0	44	465				
ANKRD30A	91074	broad.mit.edu	37	10	37430948	37430948	+	Missense_Mutation	SNP	C	C	G			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr10:37430948C>G	ENST00000602533.1	+	7	1054	c.955C>G	c.(955-957)Cca>Gca	p.P319A	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P319A|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.P319A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	375					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTACGTGGCCAGCAAAAGG	0.423																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(955-957)Cca>Gca		ankyrin repeat domain 30A							102.0	101.0	102.0					10																	37430948		1856	4094	5950	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37430948C>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.955C>G	10.37:g.37430948C>G	ENSP00000473551:p.Pro319Ala					ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P319A|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P319A	p.P319A			Q9BXX3	AN30A_HUMAN			7	1054	+			375					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.955C>G		.	.	.	.	.	.	.	.	.	.	.	0	-2.634296	0.00114	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.41400	1.17;1.0	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.45577	0.1349	L	0.40543	1.245	0.09310	N	1	D	0.63880	0.993	D	0.68192	0.956	T	0.39292	-0.9621	8	0.15066	T	0.55	.	.	.	.	.	375	Q9BXX3	AN30A_HUMAN	A	319	ENSP00000354432:P319A;ENSP00000363792:P319A	ENSP00000354432:P319A	P	+	1	0	ANKRD30A	37470954	0.001000	0.12720	0.009000	0.14445	0.010000	0.07245	1.228000	0.32588	0.132000	0.18615	0.134000	0.15878	CCA		0.423	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		9	549	0	0	0	2.17888e-05	0	9	549				
PPP2R2B	5521	broad.mit.edu	37	5	146080689	146080689	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:146080689C>A	ENST00000394413.3	-	2	657	c.87G>T	c.(85-87)acG>acT	p.T29T	PPP2R2B_ENST00000453001.1_Silent_p.T29T|PPP2R2B_ENST00000356826.3_Silent_p.T29T|PPP2R2B_ENST00000394414.1_Silent_p.T95T|PPP2R2B_ENST00000508545.2_Silent_p.T18T|PPP2R2B_ENST00000504198.1_Silent_p.T35T|PPP2R2B_ENST00000394409.3_Silent_p.T87T|PPP2R2B_ENST00000336640.6_Silent_p.T32T|PPP2R2B_ENST00000394410.2_Silent_p.T18T|PPP2R2B_ENST00000394411.4_Silent_p.T29T|PPP2R2B_ENST00000530902.1_5'UTR			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	29					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAATTCTACCGTAGAGATAA	0.418																																						ENST00000394413.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(85-87)acG>acT		protein phosphatase 2, regulatory subunit B, beta							237.0	249.0	245.0					5																	146080689		2203	4300	6503	SO:0001819	synonymous_variant	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:146080689C>A	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.87G>T	5.37:g.146080689C>A						PPP2R2B_ENST00000394411.4_Silent_p.T29T|PPP2R2B_ENST00000453001.1_Silent_p.T29T|PPP2R2B_ENST00000394410.2_Silent_p.T18T|PPP2R2B_ENST00000356826.3_Silent_p.T29T|PPP2R2B_ENST00000508545.2_Silent_p.T18T|PPP2R2B_ENST00000394414.1_Silent_p.T95T|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394409.3_Silent_p.T87T|PPP2R2B_ENST00000504198.1_Silent_p.T35T|PPP2R2B_ENST00000336640.6_Silent_p.T32T	p.T29T			Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	657	-			29					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Silent	SNP	ENST00000394413.3	37	c.87G>T	CCDS4284.1																																																																																				0.418	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		16	1237	1	0	5.50884e-06	5.50884e-06	0.00130912	16	1237				
ZNF442	79973	broad.mit.edu	37	19	12461420	12461420	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:12461420C>A	ENST00000242804.4	-	6	1561	c.979G>T	c.(979-981)Ggg>Tgg	p.G327W	CTD-3105H18.13_ENST00000563695.2_lincRNA|ZNF442_ENST00000438182.1_Missense_Mutation_p.G258W	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	327					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						AATGCTTTCCCGCATTGCTTG	0.418																																						ENST00000242804.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(979-981)Ggg>Tgg		zinc finger protein 442							211.0	204.0	206.0					19																	12461420		2203	4300	6503	SO:0001583	missense	79973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12461420C>A	AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.979G>T	19.37:g.12461420C>A	ENSP00000242804:p.Gly327Trp					ZNF442_ENST00000438182.1_Missense_Mutation_p.G258W	p.G327W	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN			6	1561	-			327					B4DJ48	Missense_Mutation	SNP	ENST00000242804.4	37	c.979G>T	CCDS12271.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.379391	0.42207	.	.	ENSG00000198342	ENST00000242804;ENST00000438182	T;T	0.01051	5.4;5.4	0.832	-0.357	0.12579	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08358	0.0208	H	0.96080	3.765	0.34524	D	0.708446	D	0.89917	1.0	D	0.97110	1.0	T	0.05131	-1.0904	9	0.87932	D	0	.	5.1771	0.15141	0.0:0.7619:0.0:0.2381	.	327	Q9H7R0	ZN442_HUMAN	W	327;258	ENSP00000242804:G327W;ENSP00000388634:G258W	ENSP00000242804:G327W	G	-	1	0	ZNF442	12322420	0.009000	0.17119	0.000000	0.03702	0.227000	0.25037	0.946000	0.29069	-0.077000	0.12752	0.313000	0.20887	GGG		0.418	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824		11	1006	1	0	3.07112e-06	3.07112e-06	0.000789711	11	1006				
SPIRE1	56907	broad.mit.edu	37	18	12535496	12535496	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr18:12535496G>T	ENST00000409402.4	-	4	975	c.708C>A	c.(706-708)acC>acA	p.T236T	SPIRE1_ENST00000383356.2_Silent_p.T77T|snoU13_ENST00000459256.1_RNA|SPIRE1_ENST00000309836.5_Silent_p.T39T|SPIRE1_ENST00000453447.2_Silent_p.T116T|SPIRE1_ENST00000410092.3_Silent_p.T236T	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						TCTTAATTTTGGTCAGAAATG	0.393																																						ENST00000409402.4																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						c.(706-708)acC>acA		spire-type actin nucleation factor 1							157.0	140.0	146.0					18																	12535496		2203	4300	6503	SO:0001819	synonymous_variant	56907					cytoskeleton|perinuclear region of cytoplasm	actin binding	g.chr18:12535496G>T	AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"""spire homolog 1 (Drosophila)"", ""spire family actin nucleation factor 1"""			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.708C>A	18.37:g.12535496G>T						SPIRE1_ENST00000309836.5_Silent_p.T39T|SPIRE1_ENST00000410092.3_Silent_p.T236T|SPIRE1_ENST00000383356.2_Silent_p.T77T|SPIRE1_ENST00000453447.2_Silent_p.T116T	p.T236T	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN			4	975	-			236						Silent	SNP	ENST00000409402.4	37	c.708C>A	CCDS45829.1																																																																																				0.393	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333109.2	XM_290818		13	679	1	0	9.31168e-06	9.31168e-06	0.00207751	13	679				
DSE	29940	broad.mit.edu	37	6	116756757	116756757	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:116756757G>T	ENST00000331677.3	+	7	1570	c.1126G>T	c.(1126-1128)Ggc>Tgc	p.G376C	DSE_ENST00000537543.1_Missense_Mutation_p.G395C|DSE_ENST00000452085.3_Missense_Mutation_p.G376C|DSE_ENST00000359564.2_Missense_Mutation_p.G376C			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	376					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CAGGTATGATGGCAGCTTGAA	0.408																																						ENST00000331677.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1126-1128)Ggc>Tgc		dermatan sulfate epimerase							77.0	78.0	78.0					6																	116756757		2203	4300	6503	SO:0001583	missense	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116756757G>T	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.1126G>T	6.37:g.116756757G>T	ENSP00000332151:p.Gly376Cys					DSE_ENST00000452085.3_Missense_Mutation_p.G376C|DSE_ENST00000359564.2_Missense_Mutation_p.G376C|DSE_ENST00000537543.1_Missense_Mutation_p.G395C	p.G376C			Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	7	1570	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	376					Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	c.1126G>T	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647492	0.29246	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.99	5.11	0.69529	.	0.107851	0.64402	D	0.000006	T	0.04452	0.0122	N	0.08118	0	0.29751	N	0.836299	B;B	0.14438	0.01;0.01	B;B	0.11329	0.006;0.003	T	0.27226	-1.0080	10	0.62326	D	0.03	-11.7541	17.1813	0.86856	0.0:0.1261:0.8739:0.0	.	395;376	B7Z765;Q9UL01	.;DSE_HUMAN	C	376;395;376;376	ENSP00000404049:G376C;ENSP00000441152:G395C;ENSP00000332151:G376C;ENSP00000352567:G376C	ENSP00000332151:G376C	G	+	1	0	DSE	116863450	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.663000	0.68038	1.499000	0.48617	0.655000	0.94253	GGC		0.408	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		9	434	1	0	2.17888e-05	2.17888e-05	0.00444706	9	434				
ZNF83	55769	broad.mit.edu	37	19	53116885	53116885	+	Silent	SNP	A	A	G	rs7247257	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:53116885A>G	ENST00000597597.1	-	2	3186	c.933T>C	c.(931-933)caT>caC	p.H311H	ZNF83_ENST00000536937.1_Silent_p.H311H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000545872.1_Silent_p.H311H|ZNF83_ENST00000541777.2_Silent_p.H311H|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000301096.3_Silent_p.H311H|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000391789.4_Silent_p.H283H|ZNF83_ENST00000544146.1_Silent_p.H311H			P51522	ZNF83_HUMAN	zinc finger protein 83	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCTCTCCAGTATGAATTCTCC	0.418													A|||	38	0.00758786	0.0234	0.0043	5008	,	,		21479	0.002		0.001	False		,,,				2504	0.001					ENST00000597597.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(931-933)caT>caC		zinc finger protein 83							108.0	113.0	111.0					19																	53116885		2201	4300	6501	SO:0001819	synonymous_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53116885A>G	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.933T>C	19.37:g.53116885A>G						ZNF83_ENST00000301096.3_Silent_p.H311H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000541777.2_Silent_p.H311H|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000391789.4_Silent_p.H283H|ZNF83_ENST00000545872.1_Silent_p.H311H|ZNF83_ENST00000536937.1_Silent_p.H311H|ZNF83_ENST00000544146.1_Silent_p.H311H	p.H311H			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	3186	-			311					A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000597597.1	37	c.933T>C	CCDS12854.1																																																																																				0.418	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		9	861	0	0	0	2.17888e-05	0	9	861				
IDI1	3422	broad.mit.edu	37	10	1087287	1087287	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr10:1087287G>T	ENST00000381344.3	-	5	861	c.695C>A	c.(694-696)tCa>tAa	p.S232*	IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|RNU7-163P_ENST00000459467.1_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000437374.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	175					cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isoprenoid biosynthetic process (GO:0008299)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		TTCTTCCTTTGACACATAACA	0.348																																						ENST00000381344.3																			0				large_intestine(3)|lung(2)|prostate(1)	6						c.(694-696)tCa>tAa		isopentenyl-diphosphate delta isomerase 1							93.0	94.0	94.0					10																	1087287		2202	4299	6501	SO:0001587	stop_gained	3422				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding	g.chr10:1087287G>T	BC006999	CCDS7056.1	10p15.3	2003-11-12	2005-07-25		ENSG00000067064	ENSG00000067064	5.3.3.2		5387	protein-coding gene	gene with protein product	"""IPP isomerase"""	604055	"""isopentenyl-diphosphate delta isomerase"""			8020941	Standard	NM_004508		Approved		uc001iga.3	Q13907	OTTHUMG00000017536	ENST00000381344.3:c.695C>A	10.37:g.1087287G>T	ENSP00000370748:p.Ser232*					IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI1_ENST00000491735.1_5'UTR	p.S232*	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)	5	861	-		all_epithelial(10;0.107)|Colorectal(49;0.14)	175					B4E155|Q32Q13|Q53GQ6|Q86U81|Q8WUX8|Q96IZ4|Q9BQ74	Nonsense_Mutation	SNP	ENST00000381344.3	37	c.695C>A	CCDS7056.1	.	.	.	.	.	.	.	.	.	.	G	34	5.401817	0.96030	.	.	ENSG00000067064	ENST00000381344	.	.	.	5.72	5.72	0.89469	.	0.564741	0.19803	N	0.105709	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.3922	20.2504	0.98404	0.0:0.0:1.0:0.0	.	.	.	.	X	232	.	ENSP00000370748:S232X	S	-	2	0	IDI1	1077287	1.000000	0.71417	0.948000	0.38648	0.595000	0.36748	5.650000	0.67944	2.850000	0.98022	0.650000	0.86243	TCA		0.348	IDI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046409.2	NM_004508		13	466	1	0	5.01169e-05	5.01169e-05	0.00884117	13	466				
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	T	C	rs201078380		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:12501446T>C	ENST00000430385.3	-	4	1966	c.1766A>G	c.(1765-1767)gAa>gGa	p.E589G	ZNF799_ENST00000419318.1_Missense_Mutation_p.E557G|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	589					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413													T|||	1	0.000199681	0.0	0.0	5008	,	,		22235	0.0		0.0	False		,,,				2504	0.001					ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(1669-1671)gAa>gGa		zinc finger protein 799							71.0	74.0	73.0					19																	12501446		2202	4278	6480	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12501446T>C	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1766A>G	19.37:g.12501446T>C	ENSP00000411084:p.Glu589Gly					CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G	p.E557G			Q96GE5	ZN799_HUMAN			4	2419	-			589						Missense_Mutation	SNP	ENST00000430385.3	37	c.1670A>G	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	T	10.35	1.326777	0.24080	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.22743	1.94;1.94	1.27	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26629	0.0651	L	0.45228	1.405	0.09310	N	1	P	0.42692	0.787	P	0.53760	0.734	T	0.11446	-1.0587	9	0.49607	T	0.09	.	5.3684	0.16127	0.0:0.0:0.2914:0.7086	.	589	Q96GE5	ZN799_HUMAN	G	557;589	ENSP00000415278:E557G;ENSP00000411084:E589G	ENSP00000415278:E557G	E	-	2	0	ZNF799	12362446	0.000000	0.05858	0.018000	0.16275	0.046000	0.14306	-0.655000	0.05348	0.842000	0.35045	0.347000	0.21830	GAA		0.413	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		6	416	0	0	0	2.0095e-06	0	6	416				
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:45128671T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							GCTCACAAAATAAGTTCCAGG	0.323																																						ENST00000575173.1																			0																																																			0							g.chr17:45128671T>G																													17.37:g.45128671T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			9	675	0	0	0	5.50884e-06	0	9	675				
TMEM216	51259	broad.mit.edu	37	11	61161357	61161357	+	Splice_Site	SNP	T	T	G	rs559230605	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:61161357T>G	ENST00000515837.2	+	3	1083	c.138T>G	c.(136-138)ggT>ggG	p.G46G	TMEM216_ENST00000398979.3_5'UTR|TMEM216_ENST00000334888.5_Splice_Site_p.G46G			Q9P0N5	TM216_HUMAN	transmembrane protein 216	46					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438													T|||	429	0.0856629	0.1248	0.0965	5008	,	,		21622	0.0665		0.0666	False		,,,				2504	0.0644					ENST00000515837.2																			3	Substitution - coding silent(3)	p.G46G(3)	prostate(2)|endometrium(1)	endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						c.e3-1		transmembrane protein 216							84.0	93.0	90.0					11																	61161357		1966	4155	6121	SO:0001630	splice_region_variant	51259					integral to membrane		g.chr11:61161357T>G		CCDS53640.1	11q13.1	2014-09-17			ENSG00000187049	ENSG00000187049			25018	protein-coding gene	gene with protein product		613277	"""cerebello-oculo-renal syndrome 2"", ""Meckel syndrome, type 2"""	CORS2, MKS2		11042152, 20036350, 20512146	Standard	NM_016499		Approved	MGC13379, HSPC244, JBTS2	uc021qkf.1	Q9P0N5		ENST00000515837.2:c.137-1T>G	11.37:g.61161357T>G						TMEM216_ENST00000334888.5_Splice_Site_p.G46_splice|TMEM216_ENST00000398979.3_5'UTR	p.G46_splice			Q9P0N5	TM216_HUMAN			3	1083	+			39					A8MZ23|B7Z8N1	Splice_Site	SNP	ENST00000515837.2	37	c.136_splice	CCDS53640.1																																																																																				0.438	TMEM216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398430.1	NM_016499	Silent	23	200	0	0	0	1.17478e-05	0	23	200				
PRDM5	11107	broad.mit.edu	37	4	121739540	121739540	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:121739540C>A	ENST00000264808.3	-	5	858	c.618G>T	c.(616-618)aaG>aaT	p.K206N	PRDM5_ENST00000515109.1_Missense_Mutation_p.K206N|PRDM5_ENST00000428209.2_Missense_Mutation_p.K206N	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	206					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTGGGAATTTCTTCCCACAGT	0.373																																						ENST00000264808.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(616-618)aaG>aaT		PR domain containing 5							91.0	86.0	88.0					4																	121739540		2203	4300	6503	SO:0001583	missense	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121739540C>A	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.618G>T	4.37:g.121739540C>A	ENSP00000264808:p.Lys206Asn					PRDM5_ENST00000515109.1_Missense_Mutation_p.K206N|PRDM5_ENST00000428209.2_Missense_Mutation_p.K206N	p.K206N	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN			5	858	-			206					Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.618G>T	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358729	0.82243	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	T;T;T	0.61158	0.13;0.13;0.13	5.32	5.32	0.75619	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.79257	0.4415	M	0.84219	2.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	T	0.82165	-0.0592	10	0.72032	D	0.01	-32.109	19.0126	0.92879	0.0:1.0:0.0:0.0	.	206;206;206	Q0VAI9;Q9NQX1-2;Q9NQX1	.;.;PRDM5_HUMAN	N	206	ENSP00000264808:K206N;ENSP00000422309:K206N;ENSP00000404832:K206N	ENSP00000264808:K206N	K	-	3	2	PRDM5	121958990	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.395000	0.59678	2.498000	0.84270	0.555000	0.69702	AAG		0.373	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			69	479	1	0	5.46685e-50	2.47226e-05	1.72791e-47	69	479				
FAT4	79633	broad.mit.edu	37	4	126370128	126370128	+	Nonsense_Mutation	SNP	G	G	T	rs556536853	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:126370128G>T	ENST00000394329.3	+	9	7970	c.7957G>T	c.(7957-7959)Gag>Tag	p.E2653*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.E951*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2653	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ctCCTCTTACGAGAAACTTGA	0.373																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(7957-7959)Gag>Tag		FAT atypical cadherin 4							54.0	57.0	56.0					4																	126370128		2203	4300	6503	SO:0001587	stop_gained	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126370128G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.7957G>T	4.37:g.126370128G>T	ENSP00000377862:p.Glu2653*					FAT4_ENST00000335110.5_Nonsense_Mutation_p.E951*	p.E2653*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	7970	+			2653			Cadherin 25.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	37	c.7957G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	49	15.050129	0.99820	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.71	5.71	0.89125	.	0.214766	0.22554	U	0.058541	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	13.5378	0.61655	0.0799:0.0:0.9201:0.0	.	.	.	.	X	2653;951	.	ENSP00000335169:E951X	E	+	1	0	FAT4	126589578	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	5.431000	0.66507	2.686000	0.91538	0.650000	0.86243	GAG		0.373	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		10	351	1	0	3.07112e-06	3.07112e-06	0.000789711	10	351				
HDLBP	3069	broad.mit.edu	37	2	242187757	242187757	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:242187757C>A	ENST00000391975.1	-	13	1746	c.1519G>T	c.(1519-1521)Gag>Tag	p.E507*	HDLBP_ENST00000427183.2_Nonsense_Mutation_p.E474*|HDLBP_ENST00000391976.2_Nonsense_Mutation_p.E507*|HDLBP_ENST00000310931.4_Nonsense_Mutation_p.E507*|HDLBP_ENST00000476807.1_5'UTR	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	507	KH 5. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TTGGTACGCTCATTTTCCTAA	0.463																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1519-1521)Gag>Tag		high density lipoprotein binding protein							113.0	108.0	110.0					2																	242187757		2203	4300	6503	SO:0001587	stop_gained	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242187757C>A		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1519G>T	2.37:g.242187757C>A	ENSP00000375836:p.Glu507*					HDLBP_ENST00000391976.2_Nonsense_Mutation_p.E507*|HDLBP_ENST00000427183.2_Nonsense_Mutation_p.E474*|HDLBP_ENST00000310931.4_Nonsense_Mutation_p.E507*|HDLBP_ENST00000476807.1_5'UTR	p.E507*	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	13	1746	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	507			KH 5.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Nonsense_Mutation	SNP	ENST00000391975.1	37	c.1519G>T	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	9.954687|9.954687	0.99304|0.99304	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000452931|ENST00000373292	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.56958|.	D|.	0.05|.	-40.5689|-40.5689	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	507;507;507;474;16|315	.|.	ENSP00000312042:E507X|.	E|X	-|-	1|2	0|2	HDLBP|HDLBP	241836430|241836430	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.978000|0.978000	0.69477|0.69477	7.755000|7.755000	0.85180|0.85180	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAG|TGA		0.463	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		13	471	1	0	2.31682e-05	2.31682e-05	0.00456484	13	471				
LOC101927905	101927905	broad.mit.edu	37	12	8386973	8386973	+	lincRNA	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:8386973C>T	ENST00000304751.9	+	0	0				FAM86FP_ENST00000427893.2_RNA																							AGCCAGCCTCCGCAGGACCCC	0.592													.|||	4	0.000798722	0.0008	0.0029	5008	,	,		-128	0.0		0.001	False		,,,				2504	0.0					ENST00000427893.2																			0																																																			0							g.chr12:8386973C>T																													12.37:g.8386973C>T														0	793	-									RNA	SNP	ENST00000304751.9	37																																																																																						0.592	RP11-266K4.9-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000400464.1			11	274	0	0	0	2.31682e-05	0	11	274				
TRANK1	9881	broad.mit.edu	37	3	36897208	36897208	+	Silent	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:36897208G>T	ENST00000429976.2	-	12	4120	c.3873C>A	c.(3871-3873)acC>acA	p.T1291T	TRANK1_ENST00000428977.2_Silent_p.T741T|TRANK1_ENST00000301807.6_Silent_p.T741T	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1291							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCCTCCCTTTGGTCATTTTGG	0.473																																						ENST00000301807.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(2221-2223)acC>acA		tetratricopeptide repeat and ankyrin repeat containing 1							199.0	195.0	197.0					3																	36897208		1930	4148	6078	SO:0001819	synonymous_variant	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36897208G>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.3873C>A	3.37:g.36897208G>T						TRANK1_ENST00000428977.2_Silent_p.T741T|TRANK1_ENST00000429976.2_Silent_p.T1291T	p.T741T	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN			12	4120	-			1291					Q8N8K0	Silent	SNP	ENST00000429976.2	37	c.2223C>A	CCDS46789.2																																																																																				0.473	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		12	853	1	0	1.49906e-05	1.49906e-05	0.0031734	12	853				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		9	732	0	0	0	1.49906e-05	0	9	732				
KIRREL	55243	broad.mit.edu	37	1	158057941	158057941	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:158057941C>A	ENST00000359209.6	+	7	980	c.913C>A	c.(913-915)Cac>Aac	p.H305N	KIRREL_ENST00000392272.2_Missense_Mutation_p.H202N|KIRREL_ENST00000368173.3_Missense_Mutation_p.H305N|KIRREL_ENST00000360089.4_Missense_Mutation_p.H141N|KIRREL_ENST00000416935.2_Missense_Mutation_p.H205N|KIRREL_ENST00000368172.1_Missense_Mutation_p.H103N			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	305					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)	p.H305N(2)|p.H141N(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					AGTAAATGTCCACTGTGAGTA	0.532											OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000368172.1																			3	Substitution - Missense(3)	p.H305N(2)|p.H141N(1)	lung(3)	NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(307-309)Cac>Aac		kin of IRRE like (Drosophila)							122.0	130.0	127.0					1																	158057941		2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158057941C>A	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.913C>A	1.37:g.158057941C>A	ENSP00000352138:p.His305Asn		OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1790	KIRREL_ENST00000392272.2_Missense_Mutation_p.H202N|KIRREL_ENST00000368173.3_Missense_Mutation_p.H305N|KIRREL_ENST00000360089.4_Missense_Mutation_p.H141N|KIRREL_ENST00000359209.6_Missense_Mutation_p.H305N|KIRREL_ENST00000416935.2_Missense_Mutation_p.H205N	p.H103N			Q96J84	KIRR1_HUMAN			3	319	+	all_hematologic(112;0.0378)		305			Ig-like C2-type 1.		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.307C>A	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	C	19.70	3.875650	0.72180	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76;2.76	5.44	5.44	0.79542	.	0.000000	0.45606	D	0.000341	T	0.07683	0.0193	L	0.45228	1.405	0.80722	D	1	P;P;P;P	0.44521	0.605;0.571;0.684;0.837	B;B;B;B	0.43536	0.288;0.312;0.423;0.346	T	0.16453	-1.0402	10	0.37606	T	0.19	-44.7724	16.7618	0.85514	0.0:1.0:0.0:0.0	.	205;141;103;305	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	N	141;305;202;305;205;103	ENSP00000353202:H141N;ENSP00000357155:H305N;ENSP00000376098:H202N;ENSP00000352138:H305N;ENSP00000389674:H205N;ENSP00000357154:H103N	ENSP00000352138:H305N	H	+	1	0	KIRREL	156324565	0.994000	0.37717	0.996000	0.52242	0.987000	0.75469	3.117000	0.50407	2.557000	0.86248	0.557000	0.71058	CAC		0.532	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		11	681	1	0	5.50884e-06	5.50884e-06	0.00130912	11	681				
MYH7	4625	broad.mit.edu	37	14	23898270	23898270	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr14:23898270C>T	ENST00000355349.3	-	14	1463	c.1301G>A	c.(1300-1302)aGg>aAg	p.R434K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	434	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTTGAACATCCTCTCATACAC	0.542																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(1300-1302)aGg>aAg		myosin, heavy chain 7, cardiac muscle, beta							144.0	127.0	133.0					14																	23898270		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23898270C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.1301G>A	14.37:g.23898270C>T	ENSP00000347507:p.Arg434Lys						p.R434K	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	14	1463	-	all_cancers(95;2.54e-05)		434			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.1301G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	c	1.349	-0.591893	0.03799	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.88664	-2.41	4.18	-2.61	0.06171	Myosin head, motor domain (2);	.	.	.	.	T	0.78419	0.4280	N	0.25825	0.765	0.21782	N	0.999541	B	0.02656	0.0	B	0.01281	0.0	T	0.59440	-0.7454	9	0.10902	T	0.67	.	11.4013	0.49873	0.0:0.3619:0.0:0.6381	.	434	P12883	MYH7_HUMAN	K	434	ENSP00000347507:R434K	ENSP00000347507:R434K	R	-	2	0	MYH7	22968110	0.983000	0.35010	0.980000	0.43619	0.520000	0.34377	0.109000	0.15417	-0.725000	0.04901	-1.662000	0.00750	AGG		0.542	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		6	414	0	0	0	1.12685e-05	0	6	414				
SORBS2	8470	broad.mit.edu	37	4	186544639	186544639	+	Silent	SNP	A	A	G			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:186544639A>G	ENST00000284776.7	-	13	2441	c.1932T>C	c.(1930-1932)caT>caC	p.H644H	SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000418609.1_Silent_p.H548H|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Silent_p.H744H|SORBS2_ENST00000431808.1_Silent_p.H644H|SORBS2_ENST00000319471.9_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	644	His-rich.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ggtggtggtgatggtggtggt	0.522																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(1930-1932)caT>caC		sorbin and SH3 domain containing 2							54.0	54.0	54.0					4																	186544639		2203	4300	6503	SO:0001819	synonymous_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544639A>G		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1932T>C	4.37:g.186544639A>G						SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000355634.5_Silent_p.H744H|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000418609.1_Silent_p.H548H|SORBS2_ENST00000284776.7_Silent_p.H644H|SORBS2_ENST00000448662.2_Intron	p.H644H			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2495	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	644			His-rich.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	ENST00000284776.7	37	c.1932T>C	CCDS3845.1																																																																																				0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		5	243	0	0	0	1.23904e-05	0	5	243				
RP11-156P1.3	0	broad.mit.edu	37	17	45128735	45128735	+	RNA	SNP	T	T	C			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:45128735T>C	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							GAAATACTAATGATTTTTATT	0.323																																						ENST00000575173.1																			0																																																			0							g.chr17:45128735T>C																													17.37:g.45128735T>C														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			14	561	0	0	0	3.45872e-05	0	14	561				
SSUH2	51066	broad.mit.edu	37	3	8669466	8669466	+	Missense_Mutation	SNP	G	G	A	rs377451237		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:8669466G>A	ENST00000317371.4	-	15	1751	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	SSUH2_ENST00000415132.1_Missense_Mutation_p.R176W|SSUH2_ENST00000544814.1_Missense_Mutation_p.R198W|SSUH2_ENST00000341795.3_Missense_Mutation_p.R176W			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	176	Cys-rich.					cytoplasm (GO:0005737)											GATGGGCACCGCACCTGCAGA	0.662																																						ENST00000317371.4																			0											c.(526-528)Cgg>Tgg		ssu-2 homolog (C. elegans)		G	TRP/ARG	0,4406		0,0,2203	47.0	43.0	44.0		526	-5.2	0.0	3		44	1,8599	1.2+/-3.3	0,1,4299	no	missense	C3orf32	NM_015931.1	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	176/354	8669466	1,13005	2203	4300	6503	SO:0001583	missense	51066							g.chr3:8669466G>A	AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 32"""	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.526C>T	3.37:g.8669466G>A	ENSP00000324551:p.Arg176Trp					SSUH2_ENST00000544814.1_Missense_Mutation_p.R198W|SSUH2_ENST00000415132.1_Missense_Mutation_p.R176W|SSUH2_ENST00000341795.3_Missense_Mutation_p.R176W	p.R176W							15	1751	-								A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Missense_Mutation	SNP	ENST00000317371.4	37	c.526C>T	CCDS2568.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086021	0.36855	0.0	1.16E-4	ENSG00000125046	ENST00000341795;ENST00000317371;ENST00000415132;ENST00000544814	T;T;T;T	0.49720	0.79;0.79;0.77;0.79	5.36	-5.21	0.02815	.	0.285278	0.35870	N	0.002939	T	0.61236	0.2331	M	0.74881	2.28	0.09310	N	1	D;D	0.71674	0.998;0.998	P;P	0.62298	0.9;0.9	T	0.66027	-0.6025	10	0.72032	D	0.01	-10.8102	17.9076	0.88923	0.0:0.0:0.7685:0.2315	.	198;176	F5H2S5;Q9Y2M2	.;CC032_HUMAN	W	176;176;176;198	ENSP00000339150:R176W;ENSP00000324551:R176W;ENSP00000410757:R176W;ENSP00000439378:R198W	ENSP00000324551:R176W	R	-	1	2	C3orf32	8644466	0.769000	0.28531	0.000000	0.03702	0.001000	0.01503	0.143000	0.16115	-0.658000	0.05366	-0.467000	0.05162	CGG		0.662	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337900.1	NM_015931		29	180	0	0	0	9.21846e-06	0	29	180				
DPY19L2P1	554236	broad.mit.edu	37	7	35131480	35131480	+	RNA	SNP	A	A	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:35131480A>T	ENST00000436258.1	-	0	1889							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ATCTTCGTAAAGTGGATGATT	0.423																																						ENST00000436258.1																			0																																																			0							g.chr7:35131480A>T	BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35131480A>T														0	1889	-								B4E2E3	RNA	SNP	ENST00000436258.1	37																																																																																						0.423	DPY19L2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338113.1			6	359	0	0	0	2.31682e-05	0	6	359				
MOB3A	126308	broad.mit.edu	37	19	2076887	2076887	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:2076887C>T	ENST00000357066.3	-	4	926	c.547G>A	c.(547-549)Gtg>Atg	p.V183M	MOB3A_ENST00000592143.1_Intron|MOB3A_ENST00000592280.1_Missense_Mutation_p.V183M	NM_130807.2	NP_570719.1	Q96BX8	MOB3A_HUMAN	MOB kinase activator 3A	183						intracellular (GO:0005622)	metal ion binding (GO:0046872)										CAGGTGTTCACGTGGGCCTCG	0.612																																						ENST00000357066.3																			0											c.(547-549)Gtg>Atg		MOB kinase activator 3A							86.0	72.0	77.0					19																	2076887		2203	4300	6503	SO:0001583	missense	126308					intracellular	metal ion binding	g.chr19:2076887C>T	AK095471	CCDS12081.1	19p13.3	2011-09-28	2011-09-28	2011-09-28	ENSG00000172081	ENSG00000172081		"""MOB kinase activators"""	29802	protein-coding gene	gene with protein product	"""MOB LAK"""		"""MOB1, Mps One Binder kinase activator-like 2A (yeast)"""	MOBKL2A		12477932	Standard	NM_130807		Approved	MOB1C, MOB-LAK, moblak	uc002luv.3	Q96BX8		ENST00000357066.3:c.547G>A	19.37:g.2076887C>T	ENSP00000349575:p.Val183Met					MOB3A_ENST00000592280.1_Missense_Mutation_p.V183M|MOB3A_ENST00000592143.1_Intron	p.V183M	NM_130807.2	NP_570719.1	Q96BX8	MOL2A_HUMAN			4	926	-			183					B3KTF1|O75249|Q8TF69	Missense_Mutation	SNP	ENST00000357066.3	37	c.547G>A	CCDS12081.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421174	0.83559	.	.	ENSG00000172081	ENST00000357066	.	.	.	3.74	3.74	0.42951	.	0.000000	0.85682	D	0.000000	T	0.78470	0.4288	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.82125	-0.0612	9	0.62326	D	0.03	-49.6356	14.2648	0.66110	0.0:1.0:0.0:0.0	.	183	Q96BX8	MOB3A_HUMAN	M	183	.	ENSP00000349575:V183M	V	-	1	0	MOBKL2A	2027887	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.596000	0.67570	1.937000	0.56155	0.491000	0.48974	GTG		0.612	MOB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450893.1	NM_130807		15	169	0	0	0	2.31682e-05	0	15	169				
ACKR2	1238	broad.mit.edu	37	3	42906734	42906734	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:42906734G>T	ENST00000422265.1	+	3	915	c.740G>T	c.(739-741)cGg>cTg	p.R247L	ACKR2_ENST00000442925.1_Missense_Mutation_p.R247L|KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000273145.2_Missense_Mutation_p.R247L|CYP8B1_ENST00000437102.1_Intron	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	247					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										GGCCAGGGCCGGGCTTTAAAA	0.527																																						ENST00000422265.1																			0											c.(739-741)cGg>cTg		atypical chemokine receptor 2							121.0	118.0	119.0					3																	42906734		2203	4300	6503	SO:0001583	missense	1238							g.chr3:42906734G>T	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.740G>T	3.37:g.42906734G>T	ENSP00000416996:p.Arg247Leu					ACKR2_ENST00000442925.1_Missense_Mutation_p.R247L|ACKR2_ENST00000471537.1_Intron|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.R247L	p.R247L	NM_001296.4	NP_001287.2					3	915	+								B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Missense_Mutation	SNP	ENST00000422265.1	37	c.740G>T	CCDS2706.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735230	0.48939	.	.	ENSG00000144648	ENST00000442925;ENST00000422265;ENST00000273145	T;T;T	0.44881	0.91;0.91;0.91	4.49	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	0.442477	0.16852	N	0.196877	T	0.59335	0.2186	M	0.88906	2.99	0.80722	D	1	D	0.60160	0.987	P	0.56398	0.797	T	0.62163	-0.6912	9	.	.	.	.	5.7864	0.18336	0.2999:0.0:0.7001:0.0	.	247	O00590	CCBP2_HUMAN	L	247	ENSP00000396150:R247L;ENSP00000416996:R247L;ENSP00000273145:R247L	.	R	+	2	0	CCBP2	42881738	0.030000	0.19436	0.997000	0.53966	0.455000	0.32408	0.934000	0.28910	1.114000	0.41781	0.563000	0.77884	CGG		0.527	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296		12	774	1	0	9.31168e-06	9.31168e-06	0.00207751	12	774				
RP11-423O2.5	0	broad.mit.edu	37	1	142803437	142803437	+	lincRNA	SNP	G	G	T	rs112626665		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:142803437G>T	ENST00000423385.1	-	0	1528																											caagtagtttggattagaggc	0.333																																						ENST00000423385.1																			0																																																			0							g.chr1:142803437G>T																													1.37:g.142803437G>T														0	1528	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.333	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			11	100	1	0	1.33834e-09	8.00594e-06	4.00744e-07	11	100				
WDR19	57728	broad.mit.edu	37	4	39276564	39276564	+	Silent	SNP	C	C	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:39276564C>A	ENST00000399820.3	+	33	3856	c.3702C>A	c.(3700-3702)atC>atA	p.I1234I	WDR19_ENST00000288634.7_Silent_p.I1074I	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1234					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						AAAAGAAGATCGAGGGAATGG	0.438																																						ENST00000399820.3																			0				large_intestine(1)	1						c.(3700-3702)atC>atA		WD repeat domain 19							79.0	74.0	75.0					4																	39276564		1909	4115	6024	SO:0001819	synonymous_variant	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39276564C>A	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.3702C>A	4.37:g.39276564C>A						WDR19_ENST00000288634.7_Silent_p.I1074I	p.I1234I	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN			33	3856	+			1234					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Silent	SNP	ENST00000399820.3	37	c.3702C>A	CCDS47042.1																																																																																				0.438	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			7	205	1	0	1.06961e-07	5.18039e-06	3.08116e-05	7	205				
AHRR	57491	broad.mit.edu	37	5	422893	422893	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:422893G>A	ENST00000505113.1	+	6	547	c.503G>A	c.(502-504)cGc>cAc	p.R168H	AHRR_ENST00000512529.1_Missense_Mutation_p.R14H|AHRR_ENST00000506456.1_Missense_Mutation_p.R24H|AHRR_ENST00000316418.5_Missense_Mutation_p.R168H	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	168	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GTGGACGACCGCCAGGACTTC	0.567																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(502-504)cGc>cAc		aryl-hydrocarbon receptor repressor							65.0	74.0	71.0					5																	422893		1983	4150	6133	SO:0001583	missense	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:422893G>A	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.503G>A	5.37:g.422893G>A	ENSP00000424601:p.Arg168His					AHRR_ENST00000505113.1_Missense_Mutation_p.R168H|AHRR_ENST00000512529.1_Missense_Mutation_p.R14H|AHRR_ENST00000506456.1_Missense_Mutation_p.R24H	p.R168H	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		6	547	+			168			PAS.		A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	37	c.503G>A	CCDS56355.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.045895	0.93685	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456	T;T;T;T	0.48201	2.17;2.17;0.9;0.82	4.76	4.76	0.60689	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.57446	0.2054	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.988	D;D;D	0.91635	0.999;0.964;0.911	T	0.62520	-0.6837	10	0.87932	D	0	.	15.254	0.73571	0.0:0.0:1.0:0.0	.	24;168;168	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	H	168;168;14;24	ENSP00000424601:R168H;ENSP00000323816:R168H;ENSP00000424880:R14H;ENSP00000426932:R24H	ENSP00000323816:R168H	R	+	2	0	AHRR	475893	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.077000	0.76814	2.164000	0.68074	0.655000	0.94253	CGC		0.567	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		53	240	0	0	0	2.47226e-05	0	53	240				
NLGN1	22871	broad.mit.edu	37	3	173998609	173998609	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:173998609G>A	ENST00000457714.1	+	7	2417	c.1988G>A	c.(1987-1989)aGt>aAt	p.S663N	NLGN1_ENST00000545397.1_Missense_Mutation_p.S663N|NLGN1_ENST00000401917.3_Missense_Mutation_p.S703N|NLGN1_ENST00000361589.4_Missense_Mutation_p.S663N	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	680					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CAACAACCAAGTCCATTTTCA	0.468																																						ENST00000457714.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(1987-1989)aGt>aAt		neuroligin 1							108.0	110.0	109.0					3																	173998609		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173998609G>A	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1988G>A	3.37:g.173998609G>A	ENSP00000392500:p.Ser663Asn					NLGN1_ENST00000545397.1_Missense_Mutation_p.S663N|NLGN1_ENST00000361589.4_Missense_Mutation_p.S663N|NLGN1_ENST00000401917.3_Missense_Mutation_p.S703N	p.S663N	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		7	2417	+	Ovarian(172;0.0025)		680					Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.1988G>A	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	9.582	1.123955	0.20959	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.50803	0.1637	N	0.24115	0.695	0.44694	D	0.997688	B	0.06786	0.001	B	0.06405	0.002	T	0.39482	-0.9612	10	0.21014	T	0.42	.	19.9651	0.97262	0.0:0.0:1.0:0.0	.	663	Q8N2Q7-2	.	N	663;663;663;703	ENSP00000392500:S663N;ENSP00000354541:S663N;ENSP00000441108:S663N;ENSP00000385750:S703N	ENSP00000354541:S663N	S	+	2	0	NLGN1	175481303	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.166000	0.64965	2.793000	0.96121	0.655000	0.94253	AGT		0.468	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		31	417	0	0	0	1.48458e-05	0	31	417				
VAMP3	9341	broad.mit.edu	37	1	7838212	7838214	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:7838212_7838214delTCA	ENST00000054666.6	+	4	381_383	c.266_268delTCA	c.(265-270)ttcatc>ttc	p.I94del	VAMP3_ENST00000470357.1_In_Frame_Del_p.I66del|RP3-467L1.6_ENST00000602406.1_RNA	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN	vesicle-associated membrane protein 3	94					calcium ion-dependent exocytosis (GO:0017156)|exocytosis (GO:0006887)|Golgi to plasma membrane protein transport (GO:0043001)|membrane fusion (GO:0061025)|positive regulation of receptor recycling (GO:0001921)|protein complex assembly (GO:0006461)|retrograde transport, endosome to Golgi (GO:0042147)|SNARE complex assembly (GO:0035493)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synapse (GO:0045202)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGTTATCTTCATCATCATCAT	0.365																																						ENST00000054666.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6						c.(265-270)ttc>t		vesicle-associated membrane protein 3																																				SO:0001651	inframe_deletion	9341				cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding	g.chr1:7838212_7838214delTCA	BC003570	CCDS88.1	1p36.23	2013-02-13	2012-10-17		ENSG00000049245	ENSG00000049245		"""Vesicle-associated membrane proteins"""	12644	protein-coding gene	gene with protein product	"""cellubrevin"""	603657				9885218	Standard	NM_004781		Approved	CEB	uc001aol.3	Q15836	OTTHUMG00000001225	ENST00000054666.6:c.266_268delTCA	1.37:g.7838221_7838223delTCA	ENSP00000054666:p.Ile94del					VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del	p.FI89del	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	4	381_383	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	89					Q9BRV4	In_Frame_Del	DEL	ENST00000054666.6	37	c.266_268delTCA	CCDS88.1																																																																																				0.365	VAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003625.1	NM_004781		7	845						7	845	---	---	---	---
RERE	473	broad.mit.edu	37	1	8716108	8716109	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:8716108_8716109insT	ENST00000337907.3	-	3	882_883	c.248_249insA	c.(247-249)aagfs	p.K83fs	RERE_ENST00000400907.2_Frame_Shift_Ins_p.K83fs|RERE_ENST00000400908.2_Frame_Shift_Ins_p.K83fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	83					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CATAACGAGACTTTTTTTTCGG	0.45																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(247-249)atcfs		arginine-glutamic acid dipeptide (RE) repeats																																				SO:0001589	frameshift_variant	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8716108_8716109insT	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.249dupA	1.37:g.8716116_8716116dupT	ENSP00000338629:p.Lys83fs					RERE_ENST00000400908.2_Frame_Shift_Ins_p.I83fs|RERE_ENST00000400907.2_Frame_Shift_Ins_p.I83fs	p.I83fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	3	882_883	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	83					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Frame_Shift_Ins	INS	ENST00000337907.3	37	c.248_249insA	CCDS95.1																																																																																				0.450	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			7	1338						7	1338	---	---	---	---
PADI1	29943	broad.mit.edu	37	1	17555158	17555158	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:17555158delC	ENST00000375471.4	+	7	783	c.691delC	c.(691-693)cccfs	p.P231fs		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	231					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GGTGCTGGGGCCCCAGTGTCT	0.582																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	ENST00000375471.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(691-693)ccfs		peptidyl arginine deiminase, type I	L-Citrulline(DB00155)						144.0	159.0	154.0					1																	17555158		2203	4300	6503	SO:0001589	frameshift_variant	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17555158delC	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.691delC	1.37:g.17555158delC	ENSP00000364620:p.Pro231fs						p.P231fs	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	7	783	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	231					A1L4K6|Q70SX6	Frame_Shift_Del	DEL	ENST00000375471.4	37	c.691delC	CCDS178.1																																																																																				0.582	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		7	1287						7	1287	---	---	---	---
DLGAP3	58512	broad.mit.edu	37	1	35370281	35370283	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:35370281_35370283delTGG	ENST00000373347.1	-	3	970_972	c.702_704delCCA	c.(700-705)caccag>cag	p.H234del	DLGAP3_ENST00000495979.1_5'Flank|DLGAP3_ENST00000235180.4_In_Frame_Del_p.H234del			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	234	Poly-His.				cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GTGCCGGGACtggtggtggtggt	0.65																																						ENST00000373347.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46						c.(700-705)cag>ca		discs, large (Drosophila) homolog-associated protein 3																																				SO:0001651	inframe_deletion	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35370281_35370283delTGG	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.702_704delCCA	1.37:g.35370290_35370292delTGG	ENSP00000362444:p.His234del					DLGAP3_ENST00000235180.4_In_Frame_Del_p.HQ234del	p.HQ234del			O95886	DLGP3_HUMAN			3	970_972	-		Myeloproliferative disorder(586;0.0393)	234			Poly-His.		Q5TDD5|Q9H3X7	In_Frame_Del	DEL	ENST00000373347.1	37	c.702_704delCCA	CCDS30670.1																																																																																				0.650	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		7	489						7	489	---	---	---	---
SLC6A9	6536	broad.mit.edu	37	1	44489938	44489938	+	Frame_Shift_Del	DEL	T	T	-	rs201148088		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:44489938delT	ENST00000372310.3	-	2	177	c.12delA	c.(10-12)aaafs	p.K4fs	SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000475075.2_5'UTR	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	335					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CTTTGGCACCTTTTCCTACCA	0.627																																						ENST00000372310.3																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(10-12)aafs		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)						231.0	218.0	222.0					1																	44489938		2203	4300	6503	SO:0001589	frameshift_variant	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44489938delT	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000372310.3:c.12delA	1.37:g.44489938delT	ENSP00000361384:p.Lys4fs					SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000475075.2_5'UTR	p.K4fs	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN			2	177	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	335					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Frame_Shift_Del	DEL	ENST00000372310.3	37	c.12delA	CCDS30695.1																																																																																				0.627	SLC6A9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022827.1	NM_201649		7	1490						7	1490	---	---	---	---
AGL	178	broad.mit.edu	37	1	100380997	100380997	+	Frame_Shift_Del	DEL	A	A	-	rs28730708		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:100380997delA	ENST00000294724.4	+	31	4692	c.4214delA	c.(4213-4215)gaafs	p.E1405fs	AGL_ENST00000370161.2_Frame_Shift_Del_p.E1389fs|AGL_ENST00000361302.3_Frame_Shift_Del_p.E1389fs|AGL_ENST00000361522.4_Frame_Shift_Del_p.E1388fs|AGL_ENST00000361915.3_Frame_Shift_Del_p.E1405fs|AGL_ENST00000370163.3_Frame_Shift_Del_p.E1405fs|AGL_ENST00000370165.3_Frame_Shift_Del_p.E1405fs	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1405					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GAGATTGCAGAAAAAAAATTG	0.328																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(4213-4215)gafs		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							80.0	87.0	84.0					1																	100380997		2203	4300	6503	SO:0001589	frameshift_variant	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100380997delA	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.4214delA	1.37:g.100380997delA	ENSP00000294724:p.Glu1405fs					AGL_ENST00000361915.3_Frame_Shift_Del_p.E1405fs|AGL_ENST00000361302.3_Frame_Shift_Del_p.E1389fs|AGL_ENST00000370161.2_Frame_Shift_Del_p.E1389fs|AGL_ENST00000361522.4_Frame_Shift_Del_p.E1388fs|AGL_ENST00000370163.3_Frame_Shift_Del_p.E1405fs|AGL_ENST00000370165.3_Frame_Shift_Del_p.E1405fs	p.E1405fs	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	31	4692	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	1405					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Frame_Shift_Del	DEL	ENST00000294724.4	37	c.4214delA	CCDS759.1																																																																																				0.328	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		7	868						7	868	---	---	---	---
NTNG1	22854	broad.mit.edu	37	1	107866960	107866960	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:107866960delC	ENST00000370068.1	+	3	1149	c.303delC	c.(301-303)cacfs	p.H101fs	NTNG1_ENST00000370061.3_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370066.1_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370073.2_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370070.2_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370071.2_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370074.4_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370067.1_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370065.1_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370072.3_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000542803.1_Frame_Shift_Del_p.H101fs			Q9Y2I2	NTNG1_HUMAN	netrin G1	101	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AGCTGGCACACCCCCCTGAGC	0.483																																						ENST00000370067.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37						c.(301-303)cafs		netrin G1							203.0	204.0	204.0					1																	107866960		2203	4300	6503	SO:0001589	frameshift_variant	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:107866960delC	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.303delC	1.37:g.107866960delC	ENSP00000359085:p.His101fs					NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000542803.1_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370061.3_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370066.1_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370068.1_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370070.2_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370071.2_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370072.3_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370074.4_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370073.2_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370065.1_Frame_Shift_Del_p.H101fs	p.H101fs			Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	3	930	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	101			Laminin N-terminal.		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Frame_Shift_Del	DEL	ENST00000370068.1	37	c.303delC	CCDS44180.1																																																																																				0.483	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		7	1361						7	1361	---	---	---	---
FNDC7	163479	broad.mit.edu	37	1	109276138	109276138	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:109276138delA	ENST00000370017.3	+	10	2401	c.2124delA	c.(2122-2124)ccafs	p.P708fs	RP11-293A10.3_ENST00000437400.2_RNA|FNDC7_ENST00000271311.2_Frame_Shift_Del_p.P709fs	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	708	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)		p.I478fs*4(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CTTTCTGTCCAAAAAAAATAT	0.363																																						ENST00000370017.3																			1	Deletion - Frameshift(1)	p.I478fs*4(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20						c.(2122-2124)ccfs		fibronectin type III domain containing 7							65.0	66.0	66.0					1																	109276138		2203	4300	6503	SO:0001589	frameshift_variant	163479					extracellular region		g.chr1:109276138delA		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"""Fibronectin type III domain containing"""	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.2124delA	1.37:g.109276138delA	ENSP00000359034:p.Pro708fs					FNDC7_ENST00000271311.2_Frame_Shift_Del_p.P709fs	p.P708fs	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)	10	2401	+		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)	709			Fibronectin type-III 8.		A1L468|E9PAZ5|Q6PF16|Q8NA51	Frame_Shift_Del	DEL	ENST00000370017.3	37	c.2124delA	CCDS44185.1																																																																																				0.363	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532		8	522						8	522	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116645	121116645	+	lincRNA	DEL	T	T	-	rs377003181		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:121116645delT	ENST00000437515.1	-	0	329					NR_104189.1																						CAAGCCCCCCTTTAAAAAAAA	0.393																																						ENST00000437515.1																			0																																																			0							g.chr1:121116645delT																													1.37:g.121116645delT														0	329	-									RNA	DEL	ENST00000437515.1	37																																																																																						0.393	RP11-343N15.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098477.2			17	267						17	267	---	---	---	---
RP11-782C8.2	0	broad.mit.edu	37	1	143210193	143210194	+	lincRNA	INS	-	-	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:143210193_143210194insT	ENST00000412204.2	-	0	876_877				RP11-782C8.1_ENST00000438000.1_lincRNA																							GGCAGCATTTGTTTTTTTAACA	0.317																																						ENST00000412204.2																			0																																																			0							g.chr1:143210193_143210194insT																													1.37:g.143210200_143210200dupT						RP11-782C8.1_ENST00000438000.1_lincRNA								0	876_877	-									RNA	INS	ENST00000412204.2	37																																																																																						0.317	RP11-782C8.2-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037567.2			11	469						11	469	---	---	---	---
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)gaadel	p.E40del	HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000532105.1_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria. {ECO:0000250}.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome																													ENST00000328703.7																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(106-108)del		HCLS1 associated protein X-1			,	145,4121		1,143,1989					,	-10.8	0.2			60	303,7951		0,303,3824	no	coding,intron	HAX1	NM_006118.3,NM_001018837.1	,	1,446,5813	A1A1,A1R,RR		3.6709,3.399,3.5783	,	,		448,12072				SO:0001651	inframe_deletion	10456	Kostmann syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154245864_154245866delGAA	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.106_108delGAA	1.37:g.154245873_154245875delGAA	ENSP00000329002:p.Glu40del					HAX1_ENST00000457918.2_Intron|HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del	p.E40del	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	319_321	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		40			Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	In_Frame_Del	DEL	ENST00000328703.7	37	c.106_108delGAA	CCDS1064.1																																																																																				0.522	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		12	459						12	459	---	---	---	---
PBXIP1	57326	broad.mit.edu	37	1	154917508	154917510	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:154917508_154917510delGGT	ENST00000368463.3	-	11	2257_2259	c.2186_2188delACC	c.(2185-2190)caccgg>cgg	p.H729del	PBXIP1_ENST00000542459.1_In_Frame_Del_p.H574del|PBXIP1_ENST00000539880.1_In_Frame_Del_p.H556del|PBXIP1_ENST00000498553.1_5'Flank|PBXIP1_ENST00000368465.1_In_Frame_Del_p.H700del	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	729	His-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGTCAGCCCCGGTGGTGGTGGTG	0.64																																						ENST00000368463.3																			0				breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24						c.(2185-2190)cgg>c		pre-B-cell leukemia homeobox interacting protein 1				1,4265		0,1,2132						1.1	0.6			98	7,8247		1,5,4121	no	coding	PBXIP1	NM_020524.2		1,6,6253	A1A1,A1R,RR		0.0848,0.0234,0.0639				8,12512				SO:0001651	inframe_deletion	57326				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	g.chr1:154917508_154917510delGGT	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.2186_2188delACC	1.37:g.154917517_154917519delGGT	ENSP00000357448:p.His729del					PBXIP1_ENST00000539880.1_In_Frame_Del_p.HR556del|PBXIP1_ENST00000368465.1_In_Frame_Del_p.HR700del|PBXIP1_ENST00000542459.1_In_Frame_Del_p.HR574del	p.HR729del	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		11	2257_2259	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		729			His-rich.		Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	In_Frame_Del	DEL	ENST00000368463.3	37	c.2186_2188delACC	CCDS1074.1																																																																																				0.640	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524		11	508						11	508	---	---	---	---
ISG20L2	81875	broad.mit.edu	37	1	156694023	156694023	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:156694023delG	ENST00000313146.6	-	2	1647	c.865delC	c.(865-867)ctcfs	p.L289fs	ISG20L2_ENST00000472824.2_5'UTR|ISG20L2_ENST00000368219.1_Frame_Shift_Del_p.L289fs	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	289	Exonuclease.				ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTCCGGTTGAGGGGGGGGATA	0.557																																						ENST00000313146.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16						c.(865-867)tcfs		interferon stimulated exonuclease gene 20kDa-like 2							82.0	86.0	85.0					1																	156694023		2203	4300	6503	SO:0001589	frameshift_variant	81875				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding	g.chr1:156694023delG	AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319			25745	protein-coding gene	gene with protein product		611930				18065403	Standard	NM_030980		Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.865delC	1.37:g.156694023delG	ENSP00000323424:p.Leu289fs					ISG20L2_ENST00000368219.1_Frame_Shift_Del_p.L289fs|ISG20L2_ENST00000472824.1_5'UTR	p.L289fs	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN			2	1647	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		289			Exonuclease.		D3DVC6|Q64KA2	Frame_Shift_Del	DEL	ENST00000313146.6	37	c.865delC	CCDS1153.1																																																																																				0.557	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098969.1	NM_030980		10	445						10	445	---	---	---	---
PCP4L1	654790	broad.mit.edu	37	1	161254154	161254156	+	In_Frame_Del	DEL	GGA	GGA	-	rs549268381		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:161254154_161254156delGGA	ENST00000504449.1	+	3	338_340	c.90_92delGGA	c.(88-93)gcggag>gcg	p.E35del		NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	Purkinje cell protein 4 like 1	35								p.A30A(1)|p.E35delE(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCAAGAAGGCGGAGGAGGAGGAG	0.488																																						ENST00000504449.1																			2	Substitution - coding silent(1)|Deletion - In frame(1)	p.A30A(1)|p.E35delE(1)	large_intestine(1)|lung(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(88-93)gcg>gc		Purkinje cell protein 4 like 1																																				SO:0001651	inframe_deletion	654790							g.chr1:161254154_161254156delGGA	BC028905	CCDS53412.1	1q23.3	2006-02-27	2006-02-27		ENSG00000248485	ENSG00000248485			20448	protein-coding gene	gene with protein product			"""purkinje cell protein 4 like 1"""				Standard	NM_001102566		Approved	IQM1	uc001gad.3	A6NKN8	OTTHUMG00000034340	ENST00000504449.1:c.90_92delGGA	1.37:g.161254163_161254165delGGA	ENSP00000426296:p.Glu35del						p.AE30del	NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	338_340	+	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		30					B2RV24|B9EJG4	In_Frame_Del	DEL	ENST00000504449.1	37	c.90_92delGGA	CCDS53412.1																																																																																				0.488	PCP4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082986.2			7	465						7	465	---	---	---	---
PRG4	10216	broad.mit.edu	37	1	186276374	186276376	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:186276374_186276376delCCA	ENST00000445192.2	+	7	1568_1570	c.1523_1525delCCA	c.(1522-1527)cccacc>ccc	p.T511del	PRG4_ENST00000367486.3_In_Frame_Del_p.T468del|PRG4_ENST00000367485.4_In_Frame_Del_p.T418del|PRG4_ENST00000367483.4_In_Frame_Del_p.T470del|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	511	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.P508H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GAGCCTGCACCCACCACCACCAA	0.645																																						ENST00000445192.2																			1	Substitution - Missense(1)	p.P508H(1)	lung(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1522-1527)ccc>c		proteoglycan 4																																				SO:0001651	inframe_deletion	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276374_186276376delCCA	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1523_1525delCCA	1.37:g.186276383_186276385delCCA	ENSP00000399679:p.Thr511del					PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_In_Frame_Del_p.PT465del|PRG4_ENST00000367485.4_In_Frame_Del_p.PT415del|PRG4_ENST00000367483.4_In_Frame_Del_p.PT467del	p.PT508del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1568_1570	+			508			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	In_Frame_Del	DEL	ENST00000445192.2	37	c.1523_1525delCCA	CCDS1369.1																																																																																				0.645	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		12	759						12	759	---	---	---	---
GPR25	2848	broad.mit.edu	37	1	200842776	200842778	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:200842776_200842778delTGC	ENST00000304244.2	+	1	694_696	c.611_613delTGC	c.(610-615)ttgctg>ttg	p.204_205LL>L		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	204	Poly-Leu.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GGCCTCAGCTTGCTGCTGCTGCT	0.724																																						ENST00000304244.2																			0				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						c.(610-615)ttg>t		G protein-coupled receptor 25				110,4002		8,94,1954						2.2	1.0			14	235,7753		17,201,3776	no	coding	GPR25	NM_005298.2		25,295,5730	A1A1,A1R,RR		2.9419,2.6751,2.8512				345,11755				SO:0001651	inframe_deletion	2848					integral to plasma membrane		g.chr1:200842776_200842778delTGC	U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"""GPCR / Class A : Orphans"""	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.611_613delTGC	1.37:g.200842785_200842787delTGC	ENSP00000301917:p.Leu209del						p.LL208del	NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN			1	694_696	+			208			Poly-Leu.		A0AVJ5	In_Frame_Del	DEL	ENST00000304244.2	37	c.611_613delTGC	CCDS1405.1																																																																																				0.724	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087056.1	NM_005298		7	140						7	140	---	---	---	---
RMDN2	151393	broad.mit.edu	37	2	38178783	38178783	+	Intron	DEL	T	T	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:38178783delT	ENST00000406384.1	+	2	646				RMDN2_ENST00000402091.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000407257.1_Frame_Shift_Del_p.I142fs|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000234195.3_Frame_Shift_Del_p.I142fs	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)											AAGAGTGCCATTTTTTTTGAT	0.333																																						ENST00000407257.1																			0											c.(424-426)atfs		regulator of microtubule dynamics 2							67.0	73.0	71.0					2																	38178783		2195	4296	6491	SO:0001627	intron_variant	151393							g.chr2:38178783delT	AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"""family with sequence similarity 82, member A1"""	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.452+21911T>-	2.37:g.38178783delT						RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000234195.3_Frame_Shift_Del_p.I142fs|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000402091.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000354545.2_Intron	p.I142fs							2	572	+								A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Frame_Shift_Del	DEL	ENST00000406384.1	37	c.425delT	CCDS54351.1																																																																																				0.333	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325577.1	NM_144713		9	531						9	531	---	---	---	---
KRCC1	51315	broad.mit.edu	37	2	88327535	88327536	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:88327535_88327536insT	ENST00000347055.3	-	4	940_941	c.547_548insA	c.(547-549)agcfs	p.S183fs		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	183	Lys-rich.							p.S183fs*7(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						TTCCTCGCAGCTTTTTTTTCTC	0.411																																						ENST00000347055.3																			1	Deletion - Frameshift(1)	p.S183fs*7(1)	lung(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(547-549)ctgfs		lysine-rich coiled-coil 1																																				SO:0001589	frameshift_variant	51315							g.chr2:88327535_88327536insT	AF208845	CCDS2000.1	2p11.2	2008-02-05			ENSG00000172086	ENSG00000172086			28039	protein-coding gene	gene with protein product						12477932	Standard	XM_005264360		Approved	FLJ22333	uc002sso.1	Q9NPI7	OTTHUMG00000130315	ENST00000347055.3:c.548dupA	2.37:g.88327543_88327543dupT	ENSP00000340083:p.Ser183fs						p.L183fs	NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN			4	940_941	-			183			Lys-rich.		Q3B7J7	Frame_Shift_Ins	INS	ENST00000347055.3	37	c.547_548insA	CCDS2000.1																																																																																				0.411	KRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252664.1	NM_016618		9	887						9	887	---	---	---	---
SLC20A1	6574	broad.mit.edu	37	2	113416607	113416608	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:113416607_113416608delAG	ENST00000272542.3	+	7	1523_1524	c.984_985delAG	c.(982-987)ccagagfs	p.E329fs	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	329					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)	p.R332fs*14(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AGGAAGCTCCAGAGAGAGAGAG	0.515																																						ENST00000272542.3																			1	Deletion - Frameshift(1)	p.R332fs*14(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						c.(982-987)ccagfs		solute carrier family 20 (phosphate transporter), member 1																																				SO:0001589	frameshift_variant	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113416607_113416608delAG		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.984_985delAG	2.37:g.113416617_113416618delAG	ENSP00000272542:p.Glu329fs					SLC20A1_ENST00000480984.1_3'UTR	p.PE328fs	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN			7	1523_1524	+			328					Q08344|Q6DHX8|Q9UQ82	Frame_Shift_Del	DEL	ENST00000272542.3	37	c.984_985delAG	CCDS2099.1																																																																																				0.515	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		8	383						8	383	---	---	---	---
AMER3	205147	broad.mit.edu	37	2	131521308	131521308	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:131521308delG	ENST00000423981.1	+	2	1773	c.1663delG	c.(1663-1665)gggfs	p.G556fs	AMER3_ENST00000321420.4_Frame_Shift_Del_p.G556fs	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	556					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										CTCAGATGCAGGGGGGGCGAC	0.711																																						ENST00000423981.1																			0											c.(1663-1665)ggfs		APC membrane recruitment protein 3							10.0	12.0	11.0					2																	131521308		2168	4256	6424	SO:0001589	frameshift_variant	205147							g.chr2:131521308delG	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1663delG	2.37:g.131521308delG	ENSP00000392700:p.Gly556fs					AMER3_ENST00000321420.4_Frame_Shift_Del_p.G556fs	p.G556fs	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	1773	+								B7ZLH6	Frame_Shift_Del	DEL	ENST00000423981.1	37	c.1663delG	CCDS2164.1																																																																																				0.711	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		10	82						10	82	---	---	---	---
SSB	6741	broad.mit.edu	37	2	170657516	170657516	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:170657516delA	ENST00000409333.1	+	2	293	c.46delA	c.(46-48)aaafs	p.K16fs	SSB_ENST00000260956.4_Frame_Shift_Del_p.K16fs			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	16	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				histone mRNA metabolic process (GO:0008334)|tRNA modification (GO:0006400)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCTGGAGGCCAAAATCTGTCA	0.333																																						ENST00000409333.1																			0				endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(46-48)aafs		Sjogren syndrome antigen B (autoantigen La)							78.0	86.0	83.0					2																	170657516		2203	4300	6503	SO:0001589	frameshift_variant	6741				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding	g.chr2:170657516delA		CCDS2237.1	2q31.1	2014-02-14		2005-06-16	ENSG00000138385	ENSG00000138385		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	11316	protein-coding gene	gene with protein product	"""La ribonucleoprotein domain family, member 3"""	109090					Standard	NM_003142		Approved	LARP3, La, La/SSB	uc002ufk.3	P05455	OTTHUMG00000132212	ENST00000409333.1:c.46delA	2.37:g.170657516delA	ENSP00000386636:p.Lys16fs					SSB_ENST00000260956.4_Frame_Shift_Del_p.K16fs	p.K16fs			P05455	LA_HUMAN			2	293	+			16			HTH La-type RNA-binding.		Q15367|Q53XJ4	Frame_Shift_Del	DEL	ENST00000409333.1	37	c.46delA	CCDS2237.1																																																																																				0.333	SSB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333316.1	NM_003142		7	536						7	536	---	---	---	---
LOC728323	728323	broad.mit.edu	37	2	243056967	243056967	+	RNA	DEL	T	T	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:243056967delT	ENST00000456398.1	+	0	413																											CAGTGCTATCTTATGAAATAA	0.299																																						ENST00000456398.1																			0																																																			0							g.chr2:243056967delT																													2.37:g.243056967delT														0	413	+									RNA	DEL	ENST00000456398.1	37																																																																																						0.299	AC093642.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000322444.2			8	38						8	38	---	---	---	---
XPC	7508	broad.mit.edu	37	3	14219966	14219968	+	Splice_Site	DEL	CCT	CCT	-	rs72561774	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:14219966_14219968delCCT	ENST00000285021.7	-	1	315_317	c.101_103delAGG	c.(100-105)gaggat>gat	p.E34del	LSM3_ENST00000306024.3_5'UTR|XPC_ENST00000449060.2_Splice_Site_p.E34del	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	34	Glu-rich (acidic).|Poly-Glu.				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)	p.E34delE(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCGCTCTCACCCTCCTCCTCCTC	0.734			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group C"""			E		"""skin basal cell, skin squamous cell, melanoma"""			1	Deletion - In frame(1)	p.E34delE(1)	upper_aerodigestive_tract(1)	NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.e1+1	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C			,	315,1,3348		29,0,257,0,1,1545					,	5.2	1.0			23	706,1,7113		33,0,640,0,1,3236	no	codingComplex-near-splice,codingComplex-near-splice	XPC	NM_004628.4,NM_001145769.1	,	62,0,897,0,2,4781	A1A1,A1A2,A1R,A2A2,A2R,RR		9.0409,8.6245,8.908	,	,		1021,2,10461				SO:0001630	splice_region_variant	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14219966_14219968delCCT		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.103+1AGG>-	3.37:g.14219975_14219977delCCT						LSM3_ENST00000306024.3_5'UTR|XPC_ENST00000449060.2_Splice_Site_p.ED34_splice	p.ED34_splice	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			1	315_317	-			34			Glu-rich (acidic).|Poly-Glu.		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Splice_Site	DEL	ENST00000285021.7	37	c.103_splice	CCDS46763.1																																																																																				0.734	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628	In_Frame_Del	23	341						23	341	---	---	---	---
DYNC1LI1	51143	broad.mit.edu	37	3	32571050	32571050	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:32571050delT	ENST00000273130.4	-	11	1391	c.1288delA	c.(1288-1290)attfs	p.I430fs	DYNC1LI1_ENST00000432458.2_Frame_Shift_Del_p.I314fs	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	430					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						TTTGGATCAATTTTTTTTGAC	0.398																																						ENST00000273130.4																			0				kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						c.(1288-1290)ttfs		dynein, cytoplasmic 1, light intermediate chain 1							67.0	64.0	65.0					3																	32571050		2203	4300	6503	SO:0001589	frameshift_variant	51143				cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity	g.chr3:32571050delT	AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"""Cytoplasmic dyneins"""	18745	protein-coding gene	gene with protein product		615890	"""dynein, cytoplasmic, light intermediate polypeptide 1"""	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.1288delA	3.37:g.32571050delT	ENSP00000273130:p.Ile430fs					DYNC1LI1_ENST00000432458.2_Frame_Shift_Del_p.I314fs	p.I430fs	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN			11	1391	-			430					A2RRG7|Q53HC8|Q53HK7	Frame_Shift_Del	DEL	ENST00000273130.4	37	c.1288delA	CCDS2654.1																																																																																				0.398	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253250.1	NM_016141		8	338						8	338	---	---	---	---
ROBO2	6092	broad.mit.edu	37	3	77657038	77657038	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:77657038delC	ENST00000461745.1	+	21	4126	c.3226delC	c.(3226-3228)cccfs	p.P1078fs	ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000487694.3_Frame_Shift_Del_p.P1094fs|ROBO2_ENST00000332191.8_Frame_Shift_Del_p.P1078fs	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1078					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.V1079fs*22(1)|p.V1095fs*22(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCCTCTACCTCCCCCCCCAGT	0.433																																						ENST00000461745.1																			2	Insertion - Frameshift(2)	p.V1079fs*22(1)|p.V1095fs*22(1)	biliary_tract(2)	NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(3226-3228)ccfs		roundabout, axon guidance receptor, homolog 2 (Drosophila)							68.0	74.0	72.0					3																	77657038		1836	4082	5918	SO:0001589	frameshift_variant	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77657038delC	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3226delC	3.37:g.77657038delC	ENSP00000417164:p.Pro1078fs					ROBO2_ENST00000487694.3_Frame_Shift_Del_p.P1094fs|ROBO2_ENST00000332191.8_Frame_Shift_Del_p.P1078fs|ROBO2_ENST00000469233.1_3'UTR	p.P1078fs	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	21	4126	+			1078					O43608|Q19AB4|Q19AB5	Frame_Shift_Del	DEL	ENST00000461745.1	37	c.3226delC	CCDS43109.1																																																																																				0.433	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		7	373						7	373	---	---	---	---
FILIP1L	11259	broad.mit.edu	37	3	99568272	99568273	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:99568272_99568273insT	ENST00000354552.3	-	5	2717_2718	c.2247_2248insA	c.(2245-2250)aaactafs	p.L750fs	CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000331335.5_Frame_Shift_Ins_p.L750fs|FILIP1L_ENST00000487087.1_Frame_Shift_Ins_p.L326fs|FILIP1L_ENST00000383694.2_Frame_Shift_Ins_p.L510fs|FILIP1L_ENST00000471562.1_Frame_Shift_Ins_p.L510fs|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000421999.2_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	750						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TGTTGATTTAGTTTTTTTTGCA	0.406																																						ENST00000331335.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(2245-2250)aataaafs		filamin A interacting protein 1-like																																				SO:0001589	frameshift_variant	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99568272_99568273insT		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.2248dupA	3.37:g.99568280_99568280dupT	ENSP00000346560:p.Leu750fs					CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_Frame_Shift_Ins_p.NK325fs|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000383694.2_Frame_Shift_Ins_p.NK509fs|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000471562.1_Frame_Shift_Ins_p.NK509fs|FILIP1L_ENST00000354552.3_Frame_Shift_Ins_p.NK749fs	p.NK749fs	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN			5	2717_2718	-			749					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Frame_Shift_Ins	INS	ENST00000354552.3	37	c.2247_2248insA	CCDS43117.1																																																																																				0.406	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		7	809						7	809	---	---	---	---
SLCO2A1	6578	broad.mit.edu	37	3	133670082	133670083	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:133670082_133670083insA	ENST00000310926.4	-	6	1103_1104	c.830_831insT	c.(829-831)ttcfs	p.F277fs	SLCO2A1_ENST00000493729.1_Frame_Shift_Ins_p.F201fs	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	277					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	CTCGAGGGAAGAAAAAAAAGGG	0.49																																						ENST00000310926.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						c.(829-831)tttfs		solute carrier organic anion transporter family, member 2A1				1,4265		0,1,2132						4.8	1.0			90	0,8254		0,0,4127	no	frameshift	SLCO2A1	NM_005630.2		0,1,6259	A1A1,A1R,RR		0.0,0.0234,0.0080				1,12519				SO:0001589	frameshift_variant	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133670082_133670083insA		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.831dupT	3.37:g.133670090_133670090dupA	ENSP00000311291:p.Phe277fs					SLCO2A1_ENST00000493729.1_Frame_Shift_Ins_p.F201fs	p.F277fs	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN			6	1103_1104	-			277					Q86V98|Q8IUN2	Frame_Shift_Ins	INS	ENST00000310926.4	37	c.830_831insT	CCDS3084.1																																																																																				0.490	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		7	581						7	581	---	---	---	---
PROM1	8842	broad.mit.edu	37	4	15995680	15995680	+	Frame_Shift_Del	DEL	T	T	-	rs376676164		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:15995680delT	ENST00000510224.1	-	16	1945	c.1697delA	c.(1696-1698)aatfs	p.N566fs	PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000505450.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs			O43490	PROM1_HUMAN	prominin 1	566					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AGTGCCTCTATTTTTTTTGCA	0.428																																						ENST00000505450.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						c.(1669-1671)atfs		prominin 1							189.0	187.0	188.0					4																	15995680		1901	4120	6021	SO:0001589	frameshift_variant	8842				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	g.chr4:15995680delT	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.1697delA	4.37:g.15995680delT	ENSP00000426809:p.Asn566fs					PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs	p.N557fs	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN			15	2282	-			566					Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Frame_Shift_Del	DEL	ENST00000510224.1	37	c.1670delA	CCDS47029.1																																																																																				0.428	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017		8	470						8	470	---	---	---	---
ZCCHC4	29063	broad.mit.edu	37	4	25353261	25353261	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:25353261delG	ENST00000302874.4	+	8	985	c.961delG	c.(961-963)gaafs	p.E321fs	ZCCHC4_ENST00000505451.1_3'UTR|AC108218.1_ENST00000580712.1_RNA	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	321							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				CTATTTTTTTGAATCCCGAAT	0.348																																						ENST00000302874.4																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9						c.(961-963)aafs		zinc finger, CCHC domain containing 4							132.0	122.0	125.0					4																	25353261		1790	4062	5852	SO:0001589	frameshift_variant	29063						methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr4:25353261delG	AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"""Zinc fingers, CCHC domain containing"""	22917	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 4"""	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.961delG	4.37:g.25353261delG	ENSP00000303468:p.Glu321fs					ZCCHC4_ENST00000505451.1_3'UTR	p.E321fs	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN			8	985	+		Breast(46;0.0503)	321					B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Frame_Shift_Del	DEL	ENST00000302874.4	37	c.961delG	CCDS43218.1																																																																																				0.348	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1			7	627						7	627	---	---	---	---
GUF1	60558	broad.mit.edu	37	4	44700615	44700615	+	Frame_Shift_Del	DEL	A	A	-	rs545503516		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:44700615delA	ENST00000281543.5	+	17	2121	c.1927delA	c.(1927-1929)aaafs	p.K645fs	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						AGCAGAAGGGAAAAAAAAGCT	0.328																																						ENST00000281543.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						c.(1927-1929)aafs		GUF1 GTPase homolog (S. cerevisiae)							65.0	72.0	69.0					4																	44700615		2203	4300	6503	SO:0001589	frameshift_variant	60558				translation	mitochondrial inner membrane	GTP binding|GTPase activity	g.chr4:44700615delA		CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.1927delA	4.37:g.44700615delA	ENSP00000281543:p.Lys645fs					GUF1_ENST00000506793.1_3'UTR	p.K645fs	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN			17	2121	+			645						Frame_Shift_Del	DEL	ENST00000281543.5	37	c.1927delA	CCDS3468.1																																																																																				0.328	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927		10	455						10	455	---	---	---	---
YTHDC1	91746	broad.mit.edu	37	4	69202891	69202893	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:69202891_69202893delTCC	ENST00000344157.4	-	4	1070_1072	c.735_737delGGA	c.(733-738)gaggaa>gaa	p.245_246EE>E	YTHDC1_ENST00000579690.1_In_Frame_Del_p.245_246EE>E|YTHDC1_ENST00000355665.3_In_Frame_Del_p.245_246EE>E	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	245	Glu-rich.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E245E(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ttcttcttcttcctcctcctcct	0.473																																						ENST00000344157.4																			1	Substitution - coding silent(1)	p.E245E(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(733-738)gaa>ga		YTH domain containing 1																																				SO:0001651	inframe_deletion	91746							g.chr4:69202891_69202893delTCC	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.735_737delGGA	4.37:g.69202900_69202902delTCC	ENSP00000339245:p.Glu249del					YTHDC1_ENST00000355665.3_In_Frame_Del_p.EE247del|YTHDC1_ENST00000579690.1_In_Frame_Del_p.EE247del	p.EE247del	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN			4	1070_1072	-			247			Glu-rich.		Q4W5Q3|Q7Z622|Q8TF35	In_Frame_Del	DEL	ENST00000344157.4	37	c.735_737delGGA	CCDS33992.1																																																																																				0.473	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		10	230						10	230	---	---	---	---
C4orf22	255119	broad.mit.edu	37	4	81791254	81791254	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:81791254delA	ENST00000358105.3	+	4	490	c.441delA	c.(439-441)ggafs	p.G147fs	C4orf22_ENST00000508675.1_Frame_Shift_Del_p.G164fs	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	147										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						ACTTTACTGGAAAAAAAAGAC	0.373																																						ENST00000358105.3																			0				NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						c.(439-441)ggfs		chromosome 4 open reading frame 22																																				SO:0001589	frameshift_variant	255119							g.chr4:81791254delA	BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.441delA	4.37:g.81791254delA	ENSP00000350818:p.Gly147fs					C4orf22_ENST00000508675.1_Frame_Shift_Del_p.G164fs	p.G147fs	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN			4	490	+			147					E7EQ13|Q6ZQY4|Q8N4G9	Frame_Shift_Del	DEL	ENST00000358105.3	37	c.441delA	CCDS3587.1																																																																																				0.373	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252629.2	NM_152770		8	739						8	739	---	---	---	---
SEC31A	22872	broad.mit.edu	37	4	83785565	83785565	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:83785565delT	ENST00000395310.2	-	11	1566	c.1384delA	c.(1384-1386)attfs	p.I462fs	SEC31A_ENST00000326950.5_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000508479.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000508502.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000448323.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000509142.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000505472.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000505984.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000513858.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000311785.7_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000348405.4_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000355196.2_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000432794.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000264405.5_Frame_Shift_Del_p.I234fs|SEC31A_ENST00000443462.2_Frame_Shift_Del_p.I457fs|SEC31A_ENST00000500777.2_Frame_Shift_Del_p.I462fs	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	462	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)	p.I462fs*16(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GAAGCATCAATTTTTTTTTGG	0.353																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	2	Deletion - Frameshift(2)	p.I462fs*16(2)	lung(2)	breast(1)	1						c.(1384-1386)ttfs		SEC31 homolog A (S. cerevisiae)							89.0	91.0	91.0					4																	83785565		2203	4300	6503	SO:0001589	frameshift_variant	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83785565delT	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1384delA	4.37:g.83785565delT	ENSP00000378721:p.Ile462fs					SEC31A_ENST00000264405.5_Frame_Shift_Del_p.I234fs|SEC31A_ENST00000508479.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000509142.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000505984.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000513858.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000500777.2_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000448323.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000443462.2_Frame_Shift_Del_p.I457fs|SEC31A_ENST00000395310.2_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000355196.2_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000505472.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000326950.5_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000311785.7_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000348405.4_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000508502.1_Frame_Shift_Del_p.I462fs	p.I462fs			O94979	SC31A_HUMAN			11	1547	-		Hepatocellular(203;0.114)	462			Interaction with SEC13.		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Frame_Shift_Del	DEL	ENST00000395310.2	37	c.1384delA	CCDS3596.1																																																																																				0.353	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		15	423						15	423	---	---	---	---
FHDC1	85462	broad.mit.edu	37	4	153896047	153896048	+	Frame_Shift_Ins	INS	-	-	C	rs551279175	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:153896047_153896048insC	ENST00000511601.1	+	12	1792_1793	c.1604_1605insC	c.(1603-1608)aacaccfs	p.T536fs	FHDC1_ENST00000260008.3_Frame_Shift_Ins_p.T536fs			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	536									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CGGCCCCCGAACACCCGCCGCT	0.663																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1603-1605)aacfs		FH2 domain containing 1																																				SO:0001589	frameshift_variant	85462				actin cytoskeleton organization		actin binding	g.chr4:153896047_153896048insC	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.1605dupC	4.37:g.153896048_153896048dupC	ENSP00000427567:p.Thr536fs					FHDC1_ENST00000260008.3_Frame_Shift_Ins_p.N535fs	p.N535fs			Q9C0D6	FHDC1_HUMAN			12	1792_1793	+	all_hematologic(180;0.093)		535						Frame_Shift_Ins	INS	ENST00000511601.1	37	c.1604_1605insC	CCDS34081.1																																																																																				0.663	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		12	80						12	80	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13919383	13919383	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:13919383delT	ENST00000265104.4	-	7	981	c.877delA	c.(877-879)agafs	p.R293fs		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	293	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTGGAGAGTCTTTTTTTCCAG	0.517									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(877-879)gafs		dynein, axonemal, heavy chain 5							145.0	157.0	153.0					5																	13919383		2203	4300	6503	SO:0001589	frameshift_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13919383delT	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.877delA	5.37:g.13919383delT	ENSP00000265104:p.Arg293fs						p.R293fs	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			7	981	-	Lung NSC(4;0.00476)		293			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Frame_Shift_Del	DEL	ENST00000265104.4	37	c.877delA	CCDS3882.1																																																																																				0.517	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		8	1079						8	1079	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24492973	24492973	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:24492973delA	ENST00000264463.4	-	10	2084	c.1577delT	c.(1576-1578)ttcfs	p.F526fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTAAACTGAAAAAAAATTT	0.313										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(1576-1578)tcfs		cadherin 10, type 2 (T2-cadherin)							170.0	183.0	179.0					5																	24492973		2203	4298	6501	SO:0001589	frameshift_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24492973delA	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1577delT	5.37:g.24492973delA	ENSP00000264463:p.Phe526fs	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.F526fs	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	10	2084	-			526			Cadherin 5.		Q9ULB3	Frame_Shift_Del	DEL	ENST00000264463.4	37	c.1577delT	CCDS3892.1																																																																																				0.313	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		12	1558						12	1558	---	---	---	---
SRFBP1	153443	broad.mit.edu	37	5	121356129	121356130	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:121356129_121356130insA	ENST00000339397.4	+	6	771_772	c.699_700insA	c.(700-702)aaafs	p.K234fs		NM_152546.2	NP_689759.2			serum response factor binding protein 1											central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		TAAGTCAAACCAAAAAAAACAA	0.401																																						ENST00000339397.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15						c.(697-702)acaaaafs		serum response factor binding protein 1																																				SO:0001589	frameshift_variant	153443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		g.chr5:121356129_121356130insA	AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"""BUD22 homolog (S. cerevisiae)"""	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.707dupA	5.37:g.121356137_121356137dupA	ENSP00000341324:p.Lys234fs						p.TK233fs	NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)	6	771_772	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	233						Frame_Shift_Ins	INS	ENST00000339397.4	37	c.699_700insA	CCDS43354.1																																																																																				0.401	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	NM_152546		8	596						8	596	---	---	---	---
SLC22A4	6583	broad.mit.edu	37	5	131676327	131676327	+	Frame_Shift_Del	DEL	T	T	-	rs72552721		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:131676327delT	ENST00000200652.3	+	9	1688	c.1514delT	c.(1513-1515)cttfs	p.L505fs	AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	505					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)	p.E509fs*1(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	ATCCTCACCCTTTTTTTCCCT	0.418																																						ENST00000200652.3																			1	Insertion - Frameshift(1)	p.E509fs*1(1)	ovary(1)	endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(1513-1515)ctfs		solute carrier family 22 (organic cation/zwitterion transporter), member 4	L-Carnitine(DB00583)						222.0	206.0	211.0					5																	131676327		2203	4300	6503	SO:0001589	frameshift_variant	6583				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	g.chr5:131676327delT	AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"""Solute carriers"""	10968	protein-coding gene	gene with protein product		604190	"""solute carrier family 22 (organic cation/ergothioneine transporter), member 4"""			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.1514delT	5.37:g.131676327delT	ENSP00000200652:p.Leu505fs					AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA	p.L505fs	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1688	+		all_cancers(142;0.0752)|Breast(839;0.198)	505					O14546	Frame_Shift_Del	DEL	ENST00000200652.3	37	c.1514delT	CCDS4153.1																																																																																				0.418	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	NM_003059		11	898						11	898	---	---	---	---
ANKHD1	54882	broad.mit.edu	37	5	139905676	139905676	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:139905676delA	ENST00000360839.2	+	26	4742	c.4588delA	c.(4588-4590)aaafs	p.K1531fs	ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs|SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000544120.1_5'Flank|ANKHD1_ENST00000297183.6_Frame_Shift_Del_p.K1531fs	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1531						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGTTTGGGAAAAAAAGGGC	0.423																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(4588-4590)aafs		ankyrin repeat and KH domain containing 1							133.0	145.0	141.0					5																	139905676		2203	4300	6503	SO:0001589	frameshift_variant	54882							g.chr5:139905676delA	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.4588delA	5.37:g.139905676delA	ENSP00000354085:p.Lys1531fs					ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs|ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.K1531fs	p.K1531fs	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		26	4712	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Frame_Shift_Del	DEL	ENST00000360839.2	37	c.4588delA	CCDS4225.1																																																																																				0.423	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		9	1084						9	1084	---	---	---	---
CPLX2	10814	broad.mit.edu	37	5	175306965	175306967	+	In_Frame_Del	DEL	GAG	GAG	-	rs183694640	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:175306965_175306967delGAG	ENST00000359546.4	+	5	965_967	c.322_324delGAG	c.(322-324)gagdel	p.E114del	CPLX2_ENST00000393745.3_In_Frame_Del_p.E114del|CPLX2_ENST00000515094.1_In_Frame_Del_p.E114del	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	complexin 2	114					cell differentiation (GO:0030154)|mast cell degranulation (GO:0043303)|nervous system development (GO:0007399)|positive regulation of synaptic plasticity (GO:0031915)|regulation of exocytosis (GO:0017157)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking involved in exocytosis (GO:0006904)	dendrite (GO:0030425)|mast cell granule (GO:0042629)|neuronal cell body (GO:0043025)|synapse (GO:0045202)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)|synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex (GO:0070554)				endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTGCGGGGACGAGGAGGAGGAGG	0.645																																						ENST00000359546.4																			0				endometrium(3)|kidney(2)|lung(3)|ovary(2)	10						c.(322-324)del		complexin 2																																				SO:0001651	inframe_deletion	10814				mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis	cytosol		g.chr5:175306965_175306967delGAG	U35100	CCDS4396.1	5q35.2	2008-05-23			ENSG00000145920	ENSG00000145920			2310	protein-coding gene	gene with protein product		605033				7553862, 16162394	Standard	XM_005265798		Approved	CPX-2, DKFZp547D155	uc003mdf.1	Q6PUV4	OTTHUMG00000130665	ENST00000359546.4:c.322_324delGAG	5.37:g.175306974_175306976delGAG	ENSP00000352544:p.Glu114del					CPLX2_ENST00000515094.1_In_Frame_Del_p.E114del|CPLX2_ENST00000393745.3_In_Frame_Del_p.E114del	p.E114del	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		5	965_967	+	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	114					B2RAG2|O09056|Q13329|Q28184|Q52M15|Q64386	In_Frame_Del	DEL	ENST00000359546.4	37	c.322_324delGAG	CCDS4396.1																																																																																				0.645	CPLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253157.2			9	160						9	160	---	---	---	---
SUDS3P1	285647	broad.mit.edu	37	5	177398373	177398396	+	RNA	DEL	AGGACGAAGAGCTGGAGAGCGCCA	AGGACGAAGAGCTGGAGAGCGCCA	-	rs548039666|rs70994948|rs71585660|rs568597025|rs535774316	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA	ENST00000511650.1	+	0	145																											GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA	0.683														1220	0.24361	0.2678	0.3372	5008	,	,		15351	0.1548		0.2674	False		,,,				2504	0.2117					ENST00000511650.1																			0																																																			0							g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA																													5.37:g.177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA														0	145	+									RNA	DEL	ENST00000511650.1	37																																																																																						0.683	RP11-1252I4.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000373553.1			10	20						10	20	---	---	---	---
HIST1H1B	3009	broad.mit.edu	37	6	27834859	27834859	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:27834859delT	ENST00000331442.3	-	1	500	c.449delA	c.(448-450)aagfs	p.K150fs		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	150					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)	p.K150R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CTTCACTGCCTTTTTCGCCCC	0.622																																						ENST00000331442.3																			1	Substitution - Missense(1)	p.K150R(1)	large_intestine(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(448-450)agfs		histone cluster 1, H1b							97.0	111.0	106.0					6																	27834859		2203	4299	6502	SO:0001589	frameshift_variant	3009				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27834859delT	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.449delA	6.37:g.27834859delT	ENSP00000330074:p.Lys150fs						p.K150fs	NM_005322.2	NP_005313.1	P16401	H15_HUMAN			1	500	-			150					Q14529|Q3MJ42	Frame_Shift_Del	DEL	ENST00000331442.3	37	c.449delA	CCDS4635.1																																																																																				0.622	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		7	1320						7	1320	---	---	---	---
SLC44A4	80736	broad.mit.edu	37	6	31843636	31843636	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:31843636delC	ENST00000229729.6	-	4	255	c.235delG	c.(235-237)gagfs	p.E79fs	SLC44A4_ENST00000465707.1_5'UTR|SLC44A4_ENST00000544672.1_Frame_Shift_Del_p.E3fs|SLC44A4_ENST00000375562.4_Frame_Shift_Del_p.E79fs	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	79					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CACTTGTTCTCCCCCATGCCA	0.602																																						ENST00000544672.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35						c.(7-9)agfs		solute carrier family 44, member 4	Choline(DB00122)						194.0	216.0	208.0					6																	31843636		1511	2709	4220	SO:0001589	frameshift_variant	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31843636delC	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.235delG	6.37:g.31843636delC	ENSP00000229729:p.Glu79fs					SLC44A4_ENST00000229729.6_Frame_Shift_Del_p.E79fs|SLC44A4_ENST00000375562.4_Frame_Shift_Del_p.E79fs|SLC44A4_ENST00000465707.1_5'UTR	p.E3fs	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN			4	303	-			79					A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Frame_Shift_Del	DEL	ENST00000229729.6	37	c.7delG	CCDS4724.2																																																																																				0.602	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			7	1764						7	1764	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32523362	32523363	+	RNA	INS	-	-	GATA	rs142676080|rs190692498		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:32523362_32523363insGATA	ENST00000411500.1	-	0	458					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		AAAGCAATGTGGATAAAGGGAC	0.431																																						ENST00000411500.1																			0																																																			0							g.chr6:32523362_32523363insGATA	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32523363_32523366dupGATA								NR_001298.1						0	458	-									RNA	INS	ENST00000411500.1	37																																																																																						0.431	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		9	34						9	34	---	---	---	---
UHRF1BP1	54887	broad.mit.edu	37	6	34826124	34826124	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:34826124delT	ENST00000192788.5	+	14	2162	c.1991delT	c.(1990-1992)cttfs	p.L664fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Del_p.L664fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	664							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.L666fs*15(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CTGCACATGCTTTTTTTGCAT	0.502																																						ENST00000192788.5																			1	Insertion - Frameshift(1)	p.L666fs*15(1)	breast(1)	breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(1990-1992)ctfs		UHRF1 binding protein 1							170.0	155.0	159.0					6																	34826124		1916	4147	6063	SO:0001589	frameshift_variant	54887							g.chr6:34826124delT	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.1991delT	6.37:g.34826124delT	ENSP00000192788:p.Leu664fs					UHRF1BP1_ENST00000452449.2_Frame_Shift_Del_p.L664fs	p.L664fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			14	2162	+			664					Q9NXE0	Frame_Shift_Del	DEL	ENST00000192788.5	37	c.1991delT	CCDS43455.1																																																																																				0.502	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		8	1011						8	1011	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152539540	152539540	+	Splice_Site	DEL	T	T	-	rs35128811		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:152539540delT	ENST00000367255.5	-	121	22646		c.e121-2		SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACTCCAGCCTTTTTTTCCAC	0.343										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.e121-2		spectrin repeat containing, nuclear envelope 1							125.0	136.0	132.0					6																	152539540		2203	4300	6503	SO:0001630	splice_region_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152539540delT	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.22045-2A>-	6.37:g.152539540delT		HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site		NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	121	22646	-		Ovarian(120;0.0955)						E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Splice_Site	DEL	ENST00000367255.5	37		CCDS5236.2																																																																																				0.343	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	Intron	7	971						7	971	---	---	---	---
IGF2R	3482	broad.mit.edu	37	6	160485487	160485488	+	Frame_Shift_Ins	INS	-	-	G	rs371109078	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:160485487_160485488insG	ENST00000356956.1	+	28	4089_4090	c.3941_3942insG	c.(3940-3945)acggggfs	p.TG1314fs		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1314					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	ATGAACTTCACGGGGGGGGACA	0.505																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(3940-3942)aggfs		insulin-like growth factor 2 receptor																																				SO:0001589	frameshift_variant	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160485487_160485488insG	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.3949dupG	6.37:g.160485495_160485495dupG	ENSP00000349437:p.Thr1314fs						p.R1314fs	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	28	4089_4090	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1314					Q7Z7G9|Q96PT5	Frame_Shift_Ins	INS	ENST00000356956.1	37	c.3941_3942insG	CCDS5273.1																																																																																				0.505	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		18	646						18	646	---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11871469	11871470	+	In_Frame_Ins	INS	-	-	GCAGCG	rs559389570|rs536177295	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:11871469_11871470insGCAGCG	ENST00000423059.4	-	1	354_355	c.103_104insCGCTGC	c.(103-105)ctc>cCGCTGCtc	p.34_35insPL		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	34					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		cagcagcaggagcagcggcagc	0.772										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(103-105)cct>CGCTGCcct		thrombospondin, type I, domain containing 7A																																				SO:0001652	inframe_insertion	221981					integral to membrane		g.chr7:11871469_11871470insGCAGCG		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.98_103dupCGCTGC	7.37:g.11871470_11871475dupGCAGCG	ENSP00000406482:p.Pro33_Leu34dup	HNSCC(18;0.044)					p.34_35insRC	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	1	354_355	-			34						In_Frame_Ins	INS	ENST00000423059.4	37	c.103_104insCGCTGC	CCDS47543.1																																																																																				0.772	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		12	52						12	52	---	---	---	---
MPP6	51678	broad.mit.edu	37	7	24705666	24705666	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:24705666delA	ENST00000222644.5	+	8	1160	c.910delA	c.(910-912)aaafs	p.K308fs	MPP6_ENST00000396475.2_Frame_Shift_Del_p.K308fs|MPP6_ENST00000409761.1_Frame_Shift_Del_p.K196fs			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						TATAAGTAGCAAAAAAAAGAA	0.299																																						ENST00000396475.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						c.(910-912)aafs		membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)							88.0	103.0	98.0					7																	24705666		2198	4295	6493	SO:0001589	frameshift_variant	51678				protein complex assembly		protein binding	g.chr7:24705666delA	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.910delA	7.37:g.24705666delA	ENSP00000222644:p.Lys308fs					MPP6_ENST00000222644.4_Frame_Shift_Del_p.K308fs|MPP6_ENST00000409761.1_Frame_Shift_Del_p.K196fs	p.K308fs	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN			9	1209	+			308					B2RAF0	Frame_Shift_Del	DEL	ENST00000222644.5	37	c.910delA	CCDS5388.1																																																																																				0.299	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4			8	1014						8	1014	---	---	---	---
RP5-905H7.3	0	broad.mit.edu	37	7	62701951	62701952	+	RNA	INS	-	-	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:62701951_62701952insA	ENST00000451381.1	-	0	55																											CTTTTTTGGAGAAAAAATATAT	0.337																																						ENST00000451381.1																			0																																																			0							g.chr7:62701951_62701952insA																													7.37:g.62701957_62701957dupA														0	55	-									RNA	INS	ENST00000451381.1	37																																																																																						0.337	RP5-905H7.3-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000343675.1			9	8						9	8	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91671392	91671393	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:91671392_91671393delAG	ENST00000359028.2	+	20	5211_5212	c.4986_4987delAG	c.(4984-4989)tcagagfs	p.E1663fs	AKAP9_ENST00000358100.2_Frame_Shift_Del_p.E1663fs|AKAP9_ENST00000356239.3_Frame_Shift_Del_p.E1651fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1663					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACCTGGTTTCAGAGAGAGAGAG	0.411			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(4984-4989)tcagfs		A kinase (PRKA) anchor protein 9																																				SO:0001589	frameshift_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91671392_91671393delAG	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.4986_4987delAG	7.37:g.91671402_91671403delAG	ENSP00000351922:p.Glu1663fs					AKAP9_ENST00000358100.2_Frame_Shift_Del_p.SE1662fs|AKAP9_ENST00000356239.3_Frame_Shift_Del_p.SE1650fs	p.SE1662fs			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		20	5211_5212	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1662					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Del	DEL	ENST00000359028.2	37	c.4986_4987delAG																																																																																					0.411	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		9	457						9	457	---	---	---	---
GIGYF1	64599	broad.mit.edu	37	7	100280978	100280980	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:100280978_100280980delCTG	ENST00000275732.5	-	18	3349_3351	c.2140_2142delCAG	c.(2140-2142)cagdel	p.Q714del	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	714					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCTGCTCCTCCTGCTGCTGCTGG	0.65																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2140-2142)del		GRB10 interacting GYF protein 1																																				SO:0001651	inframe_deletion	64599							g.chr7:100280978_100280980delCTG	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.2140_2142delCAG	7.37:g.100280987_100280989delCTG	ENSP00000275732:p.Gln714del						p.Q714del	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			18	3349_3351	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		714					Q6Y7W7|Q8WZ38	In_Frame_Del	DEL	ENST00000275732.5	37	c.2140_2142delCAG	CCDS34708.1																																																																																				0.650	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		8	804						8	804	---	---	---	---
RBM33	155435	broad.mit.edu	37	7	155531073	155531074	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:155531073_155531074delCA	ENST00000401878.3	+	11	1911_1912	c.1713_1714delCA	c.(1711-1716)cccacafs	p.T572fs		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	572	Pro-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CGTTTCTGCCCACACACACACA	0.53																																						ENST00000401878.3																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(1711-1716)cccafs		RNA binding motif protein 33																																				SO:0001589	frameshift_variant	155435						nucleotide binding|RNA binding	g.chr7:155531073_155531074delCA	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.1713_1714delCA	7.37:g.155531083_155531084delCA	ENSP00000384160:p.Thr572fs						p.PT571fs	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	11	1911_1912	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	571			Pro-rich.		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Frame_Shift_Del	DEL	ENST00000401878.3	37	c.1713_1714delCA	CCDS5941.2																																																																																				0.530	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		11	293						11	293	---	---	---	---
TDRP	157695	broad.mit.edu	37	8	494659	494664	+	In_Frame_Del	DEL	GGCGGC	GGCGGC	-	rs71202629	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr8:494659_494664delGGCGGC	ENST00000324079.6	-	1	334_339	c.94_99delGCCGCC	c.(94-99)gccgccdel	p.AA32del	TDRP_ENST00000427263.2_In_Frame_Del_p.AA32del|TDRP_ENST00000523656.1_In_Frame_Del_p.AA32del			Q86YL5	TDRP_HUMAN	testis development related protein	32	Poly-Ala.				spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A32_A33delAA(1)									CCTGCGCCTGggcggcggcggcggcg	0.782														1130	0.225639	0.056	0.4049	5008	,	,		8817	0.1677		0.3439	False		,,,				2504	0.2658					ENST00000324079.6																			1	Deletion - In frame(1)	p.A32_A33delAA(1)	upper_aerodigestive_tract(1)								c.(94-99)del		testis development related protein				110,14,698		47,1,15,6,1,341						1.0	0.0		dbSNP_134	2	1280,14,1322		556,0,168,7,0,577	no	codingComplex	C8orf42	NM_175075.3		603,1,183,13,1,918	A1A1,A1A2,A1R,A2A2,A2R,RR		49.4648,15.0852,41.2449				1390,28,2020				SO:0001651	inframe_deletion	157695							g.chr8:494659_494664delGGCGGC	AY194292	CCDS47759.1, CCDS59090.1	8p23.3	2013-06-03	2013-06-03	2013-06-03	ENSG00000180190	ENSG00000180190			26951	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 42"""	C8orf42		20170638	Standard	NM_175075		Approved	INM01, TDRP1, TDRP2		Q86YL5	OTTHUMG00000163593	ENST00000324079.6:c.94_99delGCCGCC	8.37:g.494665_494670delGGCGGC	ENSP00000315111:p.Ala32_Ala33del					TDRP_ENST00000523656.1_In_Frame_Del_p.AA32del|TDRP_ENST00000427263.2_In_Frame_Del_p.AA32del	p.AA32del							1	334_339	-								B6VF03|B9EG53	In_Frame_Del	DEL	ENST00000324079.6	37	c.94_99delGCCGCC	CCDS47759.1																																																																																				0.782	TDRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374442.1	NM_175075		21	8						21	8	---	---	---	---
SULF1	23213	broad.mit.edu	37	8	70514026	70514026	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr8:70514026delT	ENST00000260128.4	+	10	1740	c.1023delT	c.(1021-1023)cctfs	p.P341fs	SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs|SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	341					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTCGTGTGCCTTTTTTTATTC	0.408																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1021-1023)ccfs		sulfatase 1							396.0	343.0	361.0					8																	70514026		2203	4300	6503	SO:0001589	frameshift_variant	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70514026delT	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1023delT	8.37:g.70514026delT	ENSP00000260128:p.Pro341fs					SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs|SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs	p.P341fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		10	1740	+	Breast(64;0.0654)		341					Q86YV8|Q8NCA2|Q9UPS5	Frame_Shift_Del	DEL	ENST00000260128.4	37	c.1023delT	CCDS6204.1																																																																																				0.408	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		11	1345						11	1345	---	---	---	---
CYC1	1537	broad.mit.edu	37	8	145150875	145150876	+	Frame_Shift_Ins	INS	-	-	C			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr8:145150875_145150876insC	ENST00000318911.4	+	2	342_343	c.269_270insC	c.(268-273)caccccfs	p.HP90fs		NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	90					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to glucagon (GO:0033762)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGGAGCTGCACCCCCCCAGCT	0.668											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000318911.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15						c.(268-270)cccfs		cytochrome c-1																																				SO:0001589	frameshift_variant	1537				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding	g.chr8:145150875_145150876insC	BC001006	CCDS6415.1	8q24	2011-07-04			ENSG00000179091	ENSG00000179091		"""Mitochondrial respiratory chain complex / Complex III"""	2579	protein-coding gene	gene with protein product		123980					Standard	NM_001916		Approved	UQCR4	uc003zaz.4	P08574	OTTHUMG00000165242	ENST00000318911.4:c.276dupC	8.37:g.145150882_145150882dupC	ENSP00000317159:p.His90fs		OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1692		p.P90fs	NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	342_343	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		90					Q5U062|Q6FHS7	Frame_Shift_Ins	INS	ENST00000318911.4	37	c.269_270insC	CCDS6415.1																																																																																				0.668	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382895.1	NM_001916		27	458						27	458	---	---	---	---
RLN2	6019	broad.mit.edu	37	9	5304560	5304561	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:5304560_5304561insA	ENST00000381627.3	-	1	408_409	c.20_21insT	c.(19-21)ttcfs	p.F7fs	RLN2_ENST00000308420.3_Frame_Shift_Ins_p.F7fs	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	7					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		CTAGCAGGTGGAAAAAAAACAG	0.535																																						ENST00000381627.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11						c.(19-21)tcafs		relaxin 2			,	5,4259		0,5,2127					,	0.2	0.1			64	20,8234		0,20,4107	no	frameshift,frameshift	RLN2	NM_134441.1,NM_005059.2	,	0,25,6234	A1A1,A1R,RR		0.2423,0.1173,0.1997	,	,		25,12493				SO:0001589	frameshift_variant	6019				female pregnancy	extracellular region	hormone activity	g.chr9:5304560_5304561insA		CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014		"""Endogenous ligands"""	10027	protein-coding gene	gene with protein product	"""relaxin H2"", ""prorelaxin H2"", ""relaxin, ovarian, of pregnancy"""	179740	"""relaxin 2 (H2)"""			6548703, 6548702	Standard	NM_134441		Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.21dupT	9.37:g.5304568_5304568dupA	ENSP00000371040:p.Phe7fs					RLN2_ENST00000308420.3_Frame_Shift_Ins_p.S7fs	p.S7fs	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)	1	408_409	-	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	7					A0AVM0|Q99936|Q9UCX3|Q9UQJ2	Frame_Shift_Ins	INS	ENST00000381627.3	37	c.20_21insT	CCDS6460.1																																																																																				0.535	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051619.1	NM_134441		7	668						7	668	---	---	---	---
RANBP6	26953	broad.mit.edu	37	9	6012690	6012690	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:6012690delT	ENST00000259569.5	-	1	2928	c.2918delA	c.(2917-2919)aatfs	p.N973fs	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	973					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.N973fs*12(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AGCAATGACATTTTTTTTGGT	0.358																																						ENST00000259569.5																			1	Deletion - Frameshift(1)	p.N973fs*12(1)	ovary(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2917-2919)atfs		RAN binding protein 6							109.0	102.0	104.0					9																	6012690		2203	4300	6503	SO:0001589	frameshift_variant	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6012690delT	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2918delA	9.37:g.6012690delT	ENSP00000259569:p.Asn973fs						p.N973fs	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	2928	-		Acute lymphoblastic leukemia(23;0.158)	973					Q5T7X4|Q7Z3V2|Q96E78	Frame_Shift_Del	DEL	ENST00000259569.5	37	c.2918delA	CCDS6467.1																																																																																				0.358	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		10	633						10	633	---	---	---	---
MLLT3	4300	broad.mit.edu	37	9	20413952	20413952	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:20413952delT	ENST00000380338.4	-	5	1178	c.892delA	c.(892-894)aggfs	p.R298fs	MIR4473_ENST00000583731.1_RNA|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Frame_Shift_Del_p.R295fs|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	298					anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		CTCTTTTTCCTTTTTTTGGCT	0.393			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(892-894)ggfs		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							144.0	150.0	148.0					9																	20413952		2203	4300	6503	SO:0001589	frameshift_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20413952delT	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.892delA	9.37:g.20413952delT	ENSP00000369695:p.Arg298fs					MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Frame_Shift_Del_p.R295fs|MLLT3_ENST00000355930.6_5'UTR	p.R298fs	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	1178	-			298					B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Frame_Shift_Del	DEL	ENST00000380338.4	37	c.892delA	CCDS6494.1																																																																																				0.393	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		8	963						8	963	---	---	---	---
TOPORS	10210	broad.mit.edu	37	9	32542262	32542262	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:32542262delT	ENST00000360538.2	-	3	2377	c.2261delA	c.(2260-2262)aatfs	p.N755fs	TOPORS_ENST00000379858.1_Frame_Shift_Del_p.N690fs	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	755	Arg-rich.|Interaction with TOP1.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ACTGTGATTATTTTTTTTCCT	0.428																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2260-2262)atfs		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							112.0	117.0	115.0					9																	32542262		2203	4300	6503	SO:0001589	frameshift_variant	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32542262delT	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2261delA	9.37:g.32542262delT	ENSP00000353735:p.Asn755fs					TOPORS_ENST00000379858.1_Frame_Shift_Del_p.N690fs	p.N755fs	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2377	-			755			Arg-rich.|Interaction with TOP1.		O43273|Q6P987|Q9NS55|Q9UNR9	Frame_Shift_Del	DEL	ENST00000360538.2	37	c.2261delA	CCDS6527.1																																																																																				0.428	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		7	770						7	770	---	---	---	---
HRCT1	646962	broad.mit.edu	37	9	35906584	35906586	+	In_Frame_Del	DEL	CCA	CCA	-	rs143611048	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:35906584_35906586delCCA	ENST00000354323.2	+	1	396_398	c.300_302delCCA	c.(298-303)ctccac>ctc	p.H105del	LINC00961_ENST00000443779.1_lincRNA	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	105	His-rich.					integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						ctcaccacctccaccaccaccac	0.66														929	0.185503	0.1619	0.1268	5008	,	,		6334	0.3085		0.1213	False		,,,				2504	0.1984					ENST00000354323.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						c.(298-303)ctc>ct		histidine rich carboxyl terminus 1																																				SO:0001651	inframe_deletion	646962					integral to membrane		g.chr9:35906584_35906586delCCA		CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.300_302delCCA	9.37:g.35906593_35906595delCCA	ENSP00000346283:p.His105del						p.LH100del	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN			1	396_398	+			100			His-rich.		B7ZBJ1	In_Frame_Del	DEL	ENST00000354323.2	37	c.300_302delCCA	CCDS35012.1																																																																																				0.660	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334099.1	NM_001039792		20	62						20	62	---	---	---	---
KGFLP2	654466	broad.mit.edu	37	9	41962602	41962602	+	lincRNA	DEL	G	G	-	rs201713470	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:41962602delG	ENST00000454645.1	-	0	902					NR_003670.1																						TTCTTTCTTTGTTTTTTTTCC	0.373																																						ENST00000454645.1																			0																																																			0							g.chr9:41962602delG																													9.37:g.41962602delG								NR_003670.1						0	902	-									RNA	DEL	ENST00000454645.1	37																																																																																						0.373	RP11-204M4.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143738.1			8	747						8	747	---	---	---	---
SPATA31D5P	347127	broad.mit.edu	37	9	84528612	84528614	+	RNA	DEL	TTG	TTG	-	rs374073531|rs140971347	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:84528612_84528614delTTG	ENST00000527857.1	+	0	221					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		AGATTCCCTCTTGTTGTTTCCCA	0.389														269	0.0537141	0.0998	0.0461	5008	,	,		19697	0.0099		0.0795	False		,,,				2504	0.0153					ENST00000527857.1																			0																																																			0							g.chr9:84528612_84528614delTTG			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84528615_84528617delTTG								NR_026851.1						0	221	+									RNA	DEL	ENST00000527857.1	37																																																																																						0.389	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		11	13						11	13	---	---	---	---
CNTRL	11064	broad.mit.edu	37	9	123875984	123875985	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:123875984_123875985insA	ENST00000373855.1	+	10	1587_1588	c.1327_1328insA	c.(1327-1329)gaafs	p.E443fs	CNTRL_ENST00000238341.5_Frame_Shift_Ins_p.E443fs|CNTRL_ENST00000373865.2_Frame_Shift_Ins_p.E443fs			Q7Z7A1	CNTRL_HUMAN	centriolin	443					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GGAAGACAAAGAAAAAAAAATA	0.322																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(1327-1329)aaafs		centriolin																																				SO:0001589	frameshift_variant	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123875984_123875985insA	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.1336dupA	9.37:g.123875993_123875993dupA	ENSP00000362962:p.Glu443fs					CNTRL_ENST00000238341.5_Frame_Shift_Ins_p.K443fs|CNTRL_ENST00000373865.2_Frame_Shift_Ins_p.K443fs	p.K443fs			Q7Z7A1	CNTRL_HUMAN			10	1587_1588	+			443					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Frame_Shift_Ins	INS	ENST00000373855.1	37	c.1327_1328insA	CCDS35118.1																																																																																				0.322	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		7	285						7	285	---	---	---	---
NUP214	8021	broad.mit.edu	37	9	134003840	134003840	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:134003840delT	ENST00000359428.5	+	3	507	c.363delT	c.(361-363)gctfs	p.A121fs	RNU6-881P_ENST00000516813.1_RNA|NUP214_ENST00000411637.2_Frame_Shift_Del_p.A121fs|NUP214_ENST00000451030.1_Frame_Shift_Del_p.A121fs			P35658	NU214_HUMAN	nucleoporin 214kDa	121	Seven-bladed beta propeller.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CCATTATTGCTTTTTTTGATG	0.398			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"""DEK, SET, ABL1"""		"""AML, T-ALL"""		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(361-363)gcfs		nucleoporin 214kDa							243.0	197.0	213.0					9																	134003840		2203	4300	6503	SO:0001589	frameshift_variant	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134003840delT	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.363delT	9.37:g.134003840delT	ENSP00000352400:p.Ala121fs					NUP214_ENST00000411637.2_Frame_Shift_Del_p.A121fs|NUP214_ENST00000451030.1_Frame_Shift_Del_p.A121fs	p.A121fs			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	3	507	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	121					A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Frame_Shift_Del	DEL	ENST00000359428.5	37	c.363delT	CCDS6940.1																																																																																				0.398	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		8	738						8	738	---	---	---	---
TPRN	286262	broad.mit.edu	37	9	140087025	140087027	+	In_Frame_Del	DEL	TCC	TCC	-	rs376810326		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	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	121						8	121	---	---	---	---
KIAA1217	56243	broad.mit.edu	37	10	24822125	24822127	+	In_Frame_Del	DEL	GAA	GAA	-	rs140819336	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr10:24822125_24822127delGAA	ENST00000376454.3	+	16	3403_3405	c.3373_3375delGAA	c.(3373-3375)gaadel	p.E1129del	KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del|KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000376451.2_In_Frame_Del_p.E812del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1129					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGATGAGGAGGAAGAAGAAGAAG	0.552														6	0.00119808	0.0008	0.0014	5008	,	,		21525	0.0		0.004	False		,,,				2504	0.0					ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(2422-2424)del		KIAA1217			,,	28,4236		0,28,2104					,,	3.6	1.0		dbSNP_134	73	85,8169		0,85,4042	no	coding,coding,coding	KIAA1217	NM_019590.3,NM_001098501.1,NM_001098500.1	,,	0,113,6146	A1A1,A1R,RR		1.0298,0.6567,0.9027	,,	,,		113,12405				SO:0001651	inframe_deletion	56243				embryonic skeletal system development	cytoplasm		g.chr10:24822125_24822127delGAA	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.3373_3375delGAA	10.37:g.24822134_24822136delGAA	ENSP00000365637:p.Glu1129del					KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del|KIAA1217_ENST00000376454.3_In_Frame_Del_p.E1129del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del|KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del	p.E812del			Q5T5P2	SKT_HUMAN			11	2682_2684	+			1129					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	In_Frame_Del	DEL	ENST00000376454.3	37	c.2422_2424delGAA	CCDS31165.1																																																																																				0.552	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		11	396						11	396	---	---	---	---
NT5C2	22978	broad.mit.edu	37	10	104849436	104849438	+	In_Frame_Del	DEL	TCC	TCC	-	rs537259520	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr10:104849436_104849438delTCC	ENST00000404739.3	-	17	1700_1702	c.1677_1679delGGA	c.(1675-1680)gaggaa>gaa	p.559_560EE>E	CNNM2_ENST00000369878.4_3'UTR|NT5C2_ENST00000343289.5_In_Frame_Del_p.559_560EE>E|NT5C2_ENST00000423468.2_In_Frame_Del_p.530_531EE>E|NT5C2_ENST00000369857.4_5'UTR			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	559	Asp/Glu-rich (acidic).				cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	tccttattcttcctcctcctcct	0.502														3	0.000599042	0.0008	0.0	5008	,	,		18489	0.0		0.001	False		,,,				2504	0.001					ENST00000343289.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16						c.(1675-1680)gaa>ga		5'-nucleotidase, cytosolic II	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)																																			SO:0001651	inframe_deletion	22978				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding	g.chr10:104849436_104849438delTCC	D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"""purine 5' nucleotidase"""	600417	"""5'-nucleotidase (purine), cytosolic type B"""	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.1677_1679delGGA	10.37:g.104849445_104849447delTCC	ENSP00000383960:p.Glu561del					NT5C2_ENST00000423468.2_In_Frame_Del_p.EE530del|NT5C2_ENST00000404739.3_In_Frame_Del_p.EE559del|NT5C2_ENST00000369857.4_5'UTR	p.EE559del	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	18	1764_1766	-		all_hematologic(284;0.176)|Colorectal(252;0.178)	559			Asp/Glu-rich (acidic).		B7Z382|D3DR91|Q5JUV5	In_Frame_Del	DEL	ENST00000404739.3	37	c.1677_1679delGGA	CCDS7544.1																																																																																				0.502	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050121.1	NM_012229		8	214						8	214	---	---	---	---
SLK	9748	broad.mit.edu	37	10	105727547	105727549	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr10:105727547_105727549delAGA	ENST00000369755.3	+	1	589_591	c.44_46delAGA	c.(43-48)gagaag>gag	p.K19del	SLK_ENST00000335753.4_In_Frame_Del_p.K19del	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	19	Poly-Lys.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TTGGGGAGCGAGAAGAAGAAGAA	0.448																																					NSCLC(111;540 1651 1927 4474 17706)	ENST00000369755.3																			0				kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8						c.(43-48)gag>g		STE20-like kinase																																				SO:0001651	inframe_deletion	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105727547_105727549delAGA		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.44_46delAGA	10.37:g.105727556_105727558delAGA	ENSP00000358770:p.Lys19del					SLK_ENST00000335753.4_In_Frame_Del_p.EK15del	p.EK15del	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	1	589_591	+		Colorectal(252;0.178)	15					D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	In_Frame_Del	DEL	ENST00000369755.3	37	c.44_46delAGA	CCDS7553.1																																																																																				0.448	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		8	497						8	497	---	---	---	---
KCNA4	3739	broad.mit.edu	37	11	30033831	30033833	+	In_Frame_Del	DEL	TCC	TCC	-	rs369906337|rs375595700	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:30033831_30033833delTCC	ENST00000328224.6	-	2	1626_1628	c.393_395delGGA	c.(391-396)gaggaa>gaa	p.131_132EE>E	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	131	Poly-Glu.				potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	ttcctcctcttcctcctcctcct	0.562																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(391-396)gaa>ga		potassium voltage-gated channel, shaker-related subfamily, member 4																																				SO:0001651	inframe_deletion	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033831_30033833delTCC	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.393_395delGGA	11.37:g.30033840_30033842delTCC	ENSP00000328511:p.Glu137del						p.EE135del	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	1626_1628	-			135			Poly-Glu.			In_Frame_Del	DEL	ENST00000328224.6	37	c.393_395delGGA	CCDS41629.1																																																																																				0.562	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		7	175						7	175	---	---	---	---
CSTF3	1479	broad.mit.edu	37	11	33117910	33117910	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:33117910delT	ENST00000323959.4	-	15	1456	c.1317delA	c.(1315-1317)aaafs	p.K439fs	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	439					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						TGTCTCCATATTTTTTTAGCC	0.323																																						ENST00000323959.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						c.(1315-1317)aafs		cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa							63.0	70.0	68.0					11																	33117910		2202	4295	6497	SO:0001589	frameshift_variant	1479				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr11:33117910delT	U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"""cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"""			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.1317delA	11.37:g.33117910delT	ENSP00000315791:p.Lys439fs					TCP11L1_ENST00000324357.9_Intron	p.K439fs	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN			15	1456	-			439					A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Frame_Shift_Del	DEL	ENST00000323959.4	37	c.1317delA	CCDS7883.1																																																																																				0.323	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	NM_001326		7	471						7	471	---	---	---	---
RP11-430H10.4	0	broad.mit.edu	37	11	45433337	45433337	+	lincRNA	DEL	T	T	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:45433337delT	ENST00000528445.1	-	0	535																											CTTCCCAGTATTCGATTTCCT	0.507																																						ENST00000528445.1																			0																																																			0							g.chr11:45433337delT																													11.37:g.45433337delT														0	535	-									RNA	DEL	ENST00000528445.1	37																																																																																						0.507	RP11-430H10.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000390119.1			2	4						2	4	---	---	---	---
SLC22A9	114571	broad.mit.edu	37	11	63149668	63149669	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:63149668_63149669insA	ENST00000279178.3	+	6	1241_1242	c.992_993insA	c.(991-996)gcacaafs	p.Q332fs	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	332					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTGGAGGCAGCACAAAAAAAAA	0.406																																						ENST00000279178.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						c.(991-993)gcafs		solute carrier family 22 (organic anion transporter), member 9																																				SO:0001589	frameshift_variant	114571				transmembrane transport	integral to membrane		g.chr11:63149668_63149669insA	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.993dupA	11.37:g.63149669_63149669dupA	ENSP00000279178:p.Gln332fs					SLC22A9_ENST00000310969.4_3'UTR	p.A331fs	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN			6	1241_1242	+			331					A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Frame_Shift_Ins	INS	ENST00000279178.3	37	c.992_993insA	CCDS8043.1																																																																																				0.406	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		8	1058						8	1058	---	---	---	---
OR6C74	254783	broad.mit.edu	37	12	55641157	55641157	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:55641157delT	ENST00000343870.4	+	1	176	c.86delT	c.(85-87)cttfs	p.L29fs		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TTTCTTCTCCTTTTTTTCACC	0.378																																						ENST00000343870.4																			0				central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						c.(85-87)ctfs		olfactory receptor, family 6, subfamily C, member 74							183.0	177.0	179.0					12																	55641157		2203	4300	6503	SO:0001589	frameshift_variant	254783				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55641157delT		CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"""GPCR / Class A : Olfactory receptors"""	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.86delT	12.37:g.55641157delT	ENSP00000342836:p.Leu29fs						p.L29fs	NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN			1	176	+			29						Frame_Shift_Del	DEL	ENST00000343870.4	37	c.86delT	CCDS31816.1																																																																																				0.378	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382312.1			10	703						10	703	---	---	---	---
TPCN1	53373	broad.mit.edu	37	12	113707611	113707613	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	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_ENST00000392569.4_In_Frame_Del_p.L172del|TPCN1_ENST00000335509.6_In_Frame_Del_p.L240del	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		8	735						8	735	---	---	---	---
DDX55	57696	broad.mit.edu	37	12	124103201	124103202	+	Intron	DEL	TG	TG	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:124103201_124103202delTG	ENST00000238146.4	+	12	1214				DDX55_ENST00000421670.3_De_novo_Start_InFrame|DDX55_ENST00000541259.1_Intron|DDX55_ENST00000538744.1_Intron|SNORA9_ENST00000384170.1_RNA	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55							membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		GAATGTGGTATGTGTGTGTGTG	0.52											OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000421670.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14								DEAD (Asp-Glu-Ala-Asp) box polypeptide 55																																				SO:0001627	intron_variant	57696						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:124103201_124103202delTG	AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"""DEAD-boxes"""	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.1165-14TG>-	12.37:g.124103211_124103212delTG			OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1531	DDX55_ENST00000538744.1_Intron|DDX55_ENST00000238146.4_Intron|DDX55_ENST00000541259.1_Intron				Q8NHQ9	DDX55_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)	0	639_640	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)							Q658L6|Q8IYH0|Q9HCH7	Translation_Start_Site	DEL	ENST00000238146.4	37		CCDS9251.1																																																																																				0.520	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2			10	220						10	220	---	---	---	---
SFSWAP	6433	broad.mit.edu	37	12	132281734	132281736	+	In_Frame_Del	DEL	AGA	AGA	-	rs372337364	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:132281734_132281736delAGA	ENST00000261674.4	+	16	2687_2689	c.2546_2548delAGA	c.(2545-2550)gagaag>gag	p.K853del	SFSWAP_ENST00000541286.1_In_Frame_Del_p.K905del|SFSWAP_ENST00000539506.1_3'UTR	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	853	Arg/Ser-rich (RS domain).|Poly-Lys.				mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGTCCCCACGAGAAGAAGAAGAA	0.606														3	0.000599042	0.0	0.0	5008	,	,		16291	0.002		0.001	False		,,,				2504	0.0					ENST00000261674.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						c.(2545-2550)gag>g		splicing factor, suppressor of white-apricot homolog (Drosophila)				79,4057		6,67,1995						5.3	1.0			83	146,7912		14,118,3897	no	coding	SFSWAP	NM_004592.2		20,185,5892	A1A1,A1R,RR		1.8119,1.9101,1.8452				225,11969				SO:0001651	inframe_deletion	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132281734_132281736delAGA	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.2546_2548delAGA	12.37:g.132281743_132281745delAGA	ENSP00000261674:p.Lys853del					SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del|SFSWAP_ENST00000539506.1_3'UTR	p.EK849del	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN			16	2687_2689	+			849			Arg/Ser-rich (RS domain).		B2RN45|B7ZM97|F5H6B8|Q6PJF7	In_Frame_Del	DEL	ENST00000261674.4	37	c.2546_2548delAGA	CCDS9273.1																																																																																				0.606	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		9	796						9	796	---	---	---	---
TPTE2P2	644623	broad.mit.edu	37	13	52796688	52796688	+	RNA	DEL	C	C	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr13:52796688delC	ENST00000451298.1	-	0	1229				TPTE2P2_ENST00000606973.1_RNA																							cgctattgctccccacccatc	0.537																																						ENST00000451298.1																			0																																																			0							g.chr13:52796688delC																													13.37:g.52796688delC						RP11-64P12.8_ENST00000606031.1_RNA								0	1229	-									RNA	DEL	ENST00000451298.1	37																																																																																						0.537	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			13	43						13	43	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88329794	88329796	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr13:88329794_88329796delCGG	ENST00000325089.6	+	2	2370_2372	c.2151_2153delCGG	c.(2149-2154)tacggc>tac	p.G722del	SLITRK5_ENST00000400028.3_In_Frame_Del_p.G481del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	722					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACAGCGTGTACGGCGGCGGCGGC	0.645																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(2149-2154)tac>ta		SLIT and NTRK-like family, member 5																																				SO:0001651	inframe_deletion	26050					integral to membrane		g.chr13:88329794_88329796delCGG	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2151_2153delCGG	13.37:g.88329803_88329805delCGG	ENSP00000366283:p.Gly722del					SLITRK5_ENST00000400028.3_In_Frame_Del_p.YG476del	p.YG717del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	2370_2372	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		717					B3KNB8|B4DSH5|Q5VT81	In_Frame_Del	DEL	ENST00000325089.6	37	c.2151_2153delCGG	CCDS9465.1																																																																																				0.645	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			8	351						8	351	---	---	---	---
SALL2	6297	broad.mit.edu	37	14	21991334	21991336	+	In_Frame_Del	DEL	GGT	GGT	-	rs113881459|rs569568436		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr14:21991334_21991336delGGT	ENST00000327430.3	-	2	2820_2822	c.2526_2528delACC	c.(2524-2529)ccacct>cct	p.842_843PP>P	AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_In_Frame_Del_p.705_706PP>P|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	842	Poly-Pro.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CAGGCTGTCAGGTGGTGGTGGTG	0.571																																						ENST00000327430.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43						c.(2524-2529)cct>cc		spalt-like transcription factor 2				1,4263		0,1,2131						1.2	0.7			58	6,8248		0,6,4121	no	coding	SALL2	NM_005407.1		0,7,6252	A1A1,A1R,RR		0.0727,0.0235,0.0559				7,12511				SO:0001651	inframe_deletion	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21991334_21991336delGGT	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.2526_2528delACC	14.37:g.21991343_21991345delGGT	ENSP00000333537:p.Pro843del					SALL2_ENST00000450879.2_In_Frame_Del_p.PP705del|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron	p.PP842del	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	2820_2822	-	all_cancers(95;0.000662)		842			Poly-Pro.		B2RMX6|B9EGK8|Q8N656|Q9Y4G1	In_Frame_Del	DEL	ENST00000327430.3	37	c.2526_2528delACC	CCDS32045.1																																																																																				0.571	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		8	574						8	574	---	---	---	---
FANCM	57697	broad.mit.edu	37	14	45645955	45645955	+	Frame_Shift_Del	DEL	A	A	-	rs143681767		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr14:45645955delA	ENST00000267430.5	+	14	4083	c.3998delA	c.(3997-3999)caafs	p.Q1333fs	FANCM_ENST00000542564.2_Frame_Shift_Del_p.Q1307fs	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1333					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TTACCAGTGCAAAAAAAAGTT	0.328								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(3997-3999)cafs	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							52.0	51.0	51.0					14																	45645955		2202	4297	6499	SO:0001589	frameshift_variant	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45645955delA	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.3998delA	14.37:g.45645955delA	ENSP00000267430:p.Gln1333fs					FANCM_ENST00000542564.2_Frame_Shift_Del_p.Q1307fs	p.Q1333fs	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			14	4083	+			1333					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Frame_Shift_Del	DEL	ENST00000267430.5	37	c.3998delA	CCDS32070.1																																																																																				0.328	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		7	360						7	360	---	---	---	---
RBM25	58517	broad.mit.edu	37	14	73572607	73572608	+	Frame_Shift_Del	DEL	AG	AG	-	rs150988201		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr14:73572607_73572608delAG	ENST00000261973.7	+	11	1480_1481	c.1195_1196delAG	c.(1195-1197)agafs	p.R399fs	RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	399	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)		agagcgggaaagagagagagag	0.446																																						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.(1195-1197)afs		RNA binding motif protein 25																																				SO:0001589	frameshift_variant	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73572607_73572608delAG	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.1195_1196delAG	14.37:g.73572617_73572618delAG	ENSP00000261973:p.Arg399fs					RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs	p.R399fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	11	1480_1481	+			399			Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Frame_Shift_Del	DEL	ENST00000261973.7	37	c.1195_1196delAG	CCDS32113.1																																																																																				0.446	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		9	206						9	206	---	---	---	---
TTC8	123016	broad.mit.edu	37	14	89338724	89338726	+	In_Frame_Del	DEL	CAA	CAA	-	rs575952395		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr14:89338724_89338726delCAA	ENST00000345383.5	+	12	1329_1331	c.1245_1247delCAA	c.(1243-1248)gtcaac>gtc	p.N419del	TTC8_ENST00000536576.1_In_Frame_Del_p.N190del|TTC8_ENST00000354441.6_In_Frame_Del_p.N164del|TTC8_ENST00000380656.2_In_Frame_Del_p.N429del|TTC8_ENST00000338104.6_In_Frame_Del_p.N445del|TTC8_ENST00000358622.5_In_Frame_Del_p.N231del|TTC8_ENST00000346301.4_In_Frame_Del_p.N389del	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	455					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGGCTCTGGTCAACAACAACAAC	0.537																																						ENST00000338104.6																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(1321-1326)gtc>gt		tetratricopeptide repeat domain 8			,,	184,4080		91,2,2039					,,	3.2	1.0			114	384,7870		189,6,3932	no	coding,coding,coding	TTC8	NM_198310.2,NM_198309.2,NM_144596.2	,,	280,8,5971	A1A1,A1R,RR		4.6523,4.3152,4.5375	,,	,,		568,11950				SO:0001651	inframe_deletion	123016				cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	g.chr14:89338724_89338726delCAA	AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"""Tetratricopeptide (TTC) repeat domain containing"""	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.1245_1247delCAA	14.37:g.89338733_89338735delCAA	ENSP00000339486:p.Asn419del					TTC8_ENST00000345383.5_In_Frame_Del_p.VN415del|TTC8_ENST00000354441.6_In_Frame_Del_p.VN160del|TTC8_ENST00000380656.2_In_Frame_Del_p.VN425del|TTC8_ENST00000358622.5_In_Frame_Del_p.VN227del|TTC8_ENST00000536576.1_In_Frame_Del_p.VN186del|TTC8_ENST00000346301.4_In_Frame_Del_p.VN385del	p.VN441del			Q8TAM2	TTC8_HUMAN			13	1375_1377	+			451					A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	In_Frame_Del	DEL	ENST00000345383.5	37	c.1323_1325delCAA	CCDS9885.1																																																																																				0.537	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	NM_144596		7	587						7	587	---	---	---	---
ATG2B	55102	broad.mit.edu	37	14	96783571	96783572	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr14:96783571_96783572insT	ENST00000359933.4	-	20	4013_4014	c.3120_3121insA	c.(3118-3123)aaattafs	p.L1041fs		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1041					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGAGAGTCTAATTTTTTTTTCC	0.371																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(3118-3123)aatagafs		autophagy related 2B																																				SO:0001589	frameshift_variant	55102							g.chr14:96783571_96783572insT	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.3121dupA	14.37:g.96783580_96783580dupT	ENSP00000353010:p.Leu1041fs						p.NR1040fs	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	20	4013_4014	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1040					Q6ZRE7|Q96DQ3|Q9NW80	Frame_Shift_Ins	INS	ENST00000359933.4	37	c.3120_3121insA	CCDS9944.2																																																																																				0.371	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		15	408						15	408	---	---	---	---
IGHJ6	28475	broad.mit.edu	37	14	106329451	106329453	+	RNA	DEL	GTA	GTA	-	rs373021870|rs2338626|rs2338627|rs67183528|rs2338628|rs376479093	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr14:106329451_106329453delGTA	ENST00000390560.2	-	0	15_17				IGHD7-27_ENST00000439842.1_RNA|IGHJ2_ENST00000390564.2_RNA|IGHJ1_ENST00000390565.1_RNA|IGHJ5_ENST00000488476.1_RNA|IGHJ4_ENST00000461719.1_RNA|IGHJ3_ENST00000463911.1_RNA					immunoglobulin heavy joining 6																		AGACGTCCATGTAGTAGTAGTAG	0.537																																						ENST00000390560.2																			0																																																			0							g.chr14:106329451_106329453delGTA	J00256		14q32.33	2012-02-08			ENSG00000211900	ENSG00000211900		"""Immunoglobulins / IGH locus"""	5540	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152455		14.37:g.106329460_106329462delGTA														0	15_17	-									RNA	DEL	ENST00000390560.2	37																																																																																						0.537	IGHJ6-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_J_gene	IG_J_gene	OTTHUMT00000326277.1	NG_001019		9	710						9	710	---	---	---	---
OCA2	4948	broad.mit.edu	37	15	28200305	28200305	+	Splice_Site	DEL	T	T	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr15:28200305delT	ENST00000354638.3	-	17	1996	c.1841delA	c.(1840-1842)aag>ag	p.K614fs	OCA2_ENST00000353809.5_Splice_Site_p.K590fs|OCA2_ENST00000382996.2_Splice_Site_p.K614fs	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	614			K -> E (in OCA2). {ECO:0000269|PubMed:10987646}.|K -> N (in OCA2).		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GCTGGGTACCTTTTTTTGGAG	0.443									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85	GRCh37	CD000269	OCA2	D		c.e17+1		oculocutaneous albinism II							224.0	217.0	219.0					15																	28200305		2203	4300	6503	SO:0001630	splice_region_variant	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28200305delT		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1842+1A>-	15.37:g.28200305delT						OCA2_ENST00000353809.5_Splice_Site_p.K590_splice|OCA2_ENST00000382996.2_Splice_Site_p.K614_splice	p.K614_splice	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	17	1996	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	614		K -> E (in OCA2).|K -> N (in OCA2).			Q15211|Q15212|Q96EN1|Q9UMI5	Splice_Site	DEL	ENST00000354638.3	37	c.1842_splice	CCDS10020.1																																																																																				0.443	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275	Frame_Shift_Del	9	869						9	869	---	---	---	---
EIF2AK4	440275	broad.mit.edu	37	15	40282508	40282508	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr15:40282508delT	ENST00000263791.5	+	16	2604	c.2561delT	c.(2560-2562)attfs	p.I854fs	EIF2AK4_ENST00000382727.2_Frame_Shift_Del_p.I826fs	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	854	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CCTGTCAACATTTTTTTGGAT	0.358																																						ENST00000263791.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40						c.(2560-2562)atfs		eukaryotic translation initiation factor 2 alpha kinase 4							233.0	220.0	224.0					15																	40282508		1840	4082	5922	SO:0001589	frameshift_variant	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40282508delT	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.2561delT	15.37:g.40282508delT	ENSP00000263791:p.Ile854fs					EIF2AK4_ENST00000382727.2_Frame_Shift_Del_p.I826fs	p.I854fs	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	16	2604	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	854			Protein kinase 2.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Frame_Shift_Del	DEL	ENST00000263791.5	37	c.2561delT	CCDS42016.1																																																																																				0.358	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			10	1142						10	1142	---	---	---	---
FAM63B	54629	broad.mit.edu	37	15	59144132	59144134	+	In_Frame_Del	DEL	GCT	GCT	-	rs369163190		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr15:59144132_59144134delGCT	ENST00000559228.1	+	8	1787_1789	c.1705_1707delGCT	c.(1705-1707)gctdel	p.A574del	FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	574	Gln-rich.									central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						ACAAGCAGCAGCTGCTGCTGCTG	0.468																																						ENST00000559228.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1705-1707)del		family with sequence similarity 63, member B																																				SO:0001651	inframe_deletion	54629							g.chr15:59144132_59144134delGCT	AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.1705_1707delGCT	15.37:g.59144141_59144143delGCT	ENSP00000452885:p.Ala574del					FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del	p.A574del			Q8NBR6	FA63B_HUMAN			8	1787_1789	+			574			Gln-rich.		B2RTT8|Q9ULQ6	In_Frame_Del	DEL	ENST00000559228.1	37	c.1705_1707delGCT	CCDS42046.1																																																																																				0.468	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		9	474						9	474	---	---	---	---
NPIPA1	9284	broad.mit.edu	37	16	15045828	15045829	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr16:15045828_15045829delGT	ENST00000328085.6	+	8	999_1000	c.999_1000delGT	c.(997-1002)gagtgtfs	p.C334fs	NPIPA1_ENST00000472413.1_3'UTR	NM_006985.2	NP_008916.2	Q9UND3	NPIA1_HUMAN	nuclear pore complex interacting protein family, member A1	334	Pro-rich.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	nuclear pore (GO:0005643)											CACCTCCCGAGTGTGTCTGCTC	0.455																																						ENST00000328085.6																			0											c.(997-1002)gagtfs		nuclear pore complex interacting protein family, member A1																																				SO:0001589	frameshift_variant	9284							g.chr16:15045828_15045829delGT	AC002045	CCDS10557.1	16p13.11	2013-06-11	2013-06-11	2013-06-11	ENSG00000183426	ENSG00000183426			7909	protein-coding gene	gene with protein product		606406	"""nuclear pore complex interacting protein"""	NPIP		11586358, 18055785	Standard	NM_006985		Approved	morpheus	uc002dcy.4	Q9UND3	OTTHUMG00000090663	ENST00000328085.6:c.999_1000delGT	16.37:g.15045832_15045833delGT	ENSP00000331843:p.Cys334fs					NPIPA1_ENST00000472413.1_3'UTR	p.EC333fs	NM_006985.2	NP_008916.2					8	999_1000	+								O15102	Frame_Shift_Del	DEL	ENST00000328085.6	37	c.999_1000delGT	CCDS10557.1																																																																																				0.455	NPIPA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207326.2	NM_006985		10	1335						10	1335	---	---	---	---
PDILT	204474	broad.mit.edu	37	16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr16:20370700_20370702delCCA	ENST00000302451.4	-	12	1942_1944	c.1694_1696delTGG	c.(1693-1698)gtggct>gct	p.V565del		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	565					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTGGCTTAGCCACCACCACCAC	0.478																																						ENST00000302451.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(1693-1698)gct>g		protein disulfide isomerase-like, testis expressed																																				SO:0001651	inframe_deletion	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20370700_20370702delCCA		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1694_1696delTGG	16.37:g.20370709_20370711delCCA	ENSP00000305465:p.Val565del						p.VA565del	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			12	1942_1944	-			565					Q8IVQ5	In_Frame_Del	DEL	ENST00000302451.4	37	c.1694_1696delTGG	CCDS10584.1																																																																																				0.478	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		7	1309						7	1309	---	---	---	---
SETD1A	9739	broad.mit.edu	37	16	30977316	30977317	+	Frame_Shift_Ins	INS	-	-	C			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr16:30977316_30977317insC	ENST00000262519.8	+	8	2800_2801	c.2114_2115insC	c.(2113-2118)ggccccfs	p.GP705fs		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	705					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GCCTCAGCTGGCCCCCCCGGTG	0.644																																						ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(2113-2115)gccfs		SET domain containing 1A				8,4238		0,8,2115						2.5	0.6			50	23,8211		0,23,4094	no	frameshift	SETD1A	NM_014712.1		0,31,6209	A1A1,A1R,RR		0.2793,0.1884,0.2484				31,12449				SO:0001589	frameshift_variant	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30977316_30977317insC	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.2121dupC	16.37:g.30977323_30977323dupC	ENSP00000262519:p.Gly705fs						p.A705fs	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			8	2800_2801	+			705					A6NP62|Q6PIF3|Q8TAJ6	Frame_Shift_Ins	INS	ENST00000262519.8	37	c.2114_2115insC	CCDS32435.1																																																																																				0.644	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		7	609						7	609	---	---	---	---
SLC9A5	6553	broad.mit.edu	37	16	67300017	67300019	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr16:67300017_67300019delGAG	ENST00000299798.11	+	15	2172_2174	c.2107_2109delGAG	c.(2107-2109)gagdel	p.E708del	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	708					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CGTGGAGTCTGAGGAGGAGGAGG	0.571																																						ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(2107-2109)del		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5																																				SO:0001651	inframe_deletion	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67300017_67300019delGAG		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.2107_2109delGAG	16.37:g.67300026_67300028delGAG	ENSP00000299798:p.Glu708del						p.E708del	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	15	2172_2174	+		Ovarian(137;0.0563)	708					A5PKY7|Q9Y626	In_Frame_Del	DEL	ENST00000299798.11	37	c.2107_2109delGAG	CCDS42178.1																																																																																				0.571	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			8	230						8	230	---	---	---	---
NLRP1	22861	broad.mit.edu	37	17	5463340	5463341	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:5463340_5463341delTC	ENST00000572272.1	-	4	674_675	c.675_676delGA	c.(673-678)gagaaafs	p.K226fs	NLRP1_ENST00000345221.3_Frame_Shift_Del_p.K226fs|NLRP1_ENST00000354411.3_Frame_Shift_Del_p.K226fs|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Frame_Shift_Del_p.K226fs|NLRP1_ENST00000577119.1_Frame_Shift_Del_p.K226fs|NLRP1_ENST00000269280.4_Frame_Shift_Del_p.K226fs			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	226					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TTCTCTGATTTCTCTCTCTCTC	0.48																																						ENST00000345221.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(673-678)gaaafs		NLR family, pyrin domain containing 1																																				SO:0001589	frameshift_variant	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5463340_5463341delTC	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.675_676delGA	17.37:g.5463350_5463351delTC	ENSP00000460475:p.Lys226fs					NLRP1_ENST00000572272.1_Frame_Shift_Del_p.EK225fs|NLRP1_ENST00000262467.5_Frame_Shift_Del_p.EK225fs|NLRP1_ENST00000354411.3_Frame_Shift_Del_p.EK225fs|NLRP1_ENST00000577119.1_Frame_Shift_Del_p.EK225fs|NLRP1_ENST00000269280.4_Frame_Shift_Del_p.EK225fs|NLRP1_ENST00000571307.1_5'UTR	p.EK225fs	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN			4	1229_1230	-		Colorectal(1115;3.48e-05)	225					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Frame_Shift_Del	DEL	ENST00000572272.1	37	c.675_676delGA	CCDS42246.1																																																																																				0.480	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		7	153						7	153	---	---	---	---
FXR2	9513	broad.mit.edu	37	17	7495872	7495874	+	In_Frame_Del	DEL	CGG	CGG	-	rs376204328		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:7495872_7495874delCGG	ENST00000250113.7	-	15	2107_2109	c.1773_1775delCCG	c.(1771-1776)cgccgt>cgt	p.591_592RR>R	MPDU1_ENST00000423172.2_3'UTR|FXR2_ENST00000573057.1_5'Flank|SOX15_ENST00000250055.2_5'Flank|SOX15_ENST00000538513.2_5'Flank|SOX15_ENST00000570788.1_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	591	Poly-Arg.		R -> P (in dbSNP:rs36013555).			cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACCACGGTTACGGCGGCGGCGGC	0.547																																						ENST00000250113.7																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(1771-1776)cgt>cg		fragile X mental retardation, autosomal homolog 2																																				SO:0001651	inframe_deletion	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7495872_7495874delCGG	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1773_1775delCCG	17.37:g.7495881_7495883delCGG	ENSP00000250113:p.Arg592del					MPDU1_ENST00000423172.2_3'UTR	p.RR591del	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	15	2107_2109	-			591		R -> P (in dbSNP:rs36013555).	Poly-Arg.		B2R9M2|D3DTQ1|Q86V09|Q8WUM2	In_Frame_Del	DEL	ENST00000250113.7	37	c.1773_1775delCCG	CCDS45604.1																																																																																				0.547	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			9	1157						9	1157	---	---	---	---
KDM6B	23135	broad.mit.edu	37	17	7751859	7751861	+	In_Frame_Del	DEL	CAC	CAC	-	rs59627144|rs377654044	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:7751859_7751861delCAC	ENST00000448097.2	+	11	2584_2586	c.2253_2255delCAC	c.(2251-2256)gtcacc>gtc	p.T762del	KDM6B_ENST00000254846.5_In_Frame_Del_p.T762del			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	762	Pro-rich.|Thr-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTGTCGCCGTcaccaccaccacc	0.65																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(2251-2256)gtc>gt		lysine (K)-specific demethylase 6B																																				SO:0001651	inframe_deletion	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7751859_7751861delCAC	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.2253_2255delCAC	17.37:g.7751868_7751870delCAC	ENSP00000412513:p.Thr762del					KDM6B_ENST00000448097.2_In_Frame_Del_p.VT751del	p.VT751del	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			11	2642_2644	+			751			Pro-rich.|Thr-rich.		C9IZ40|Q96G33	In_Frame_Del	DEL	ENST00000448097.2	37	c.2253_2255delCAC																																																																																					0.650	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		7	145						7	145	---	---	---	---
MYOCD	93649	broad.mit.edu	37	17	12647692	12647694	+	In_Frame_Del	DEL	CAG	CAG	-	rs536181176	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:12647692_12647694delCAG	ENST00000343344.4	+	8	910_912	c.910_912delCAG	c.(910-912)cagdel	p.Q310del	MYOCD_ENST00000425538.1_In_Frame_Del_p.Q310del|AC005358.1_ENST00000609971.1_In_Frame_Del_p.Q214del|MYOCD_ENST00000395988.1_3'UTR			Q8IZQ8	MYCD_HUMAN	myocardin	310	Gln-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AATCCTCAGCcagcagcagcagc	0.596														27	0.00539137	0.0098	0.0029	5008	,	,		19180	0.001		0.001	False		,,,				2504	0.0102					ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(910-912)del		myocardin			,,	189,4075		0,189,1943					,,	3.1	1.0			38	472,7780		2,468,3656	no	coding,coding,coding	MYOCD	NM_153604.2,NM_001146313.1,NM_001146312.1	,,	2,657,5599	A1A1,A1R,RR		5.7198,4.4325,5.2812	,,	,,		661,11855				SO:0001651	inframe_deletion	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12647692_12647694delCAG	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.910_912delCAG	17.37:g.12647701_12647703delCAG	ENSP00000341835:p.Gln310del					MYOCD_ENST00000395988.1_In_Frame_Del_p.Q214del|MYOCD_ENST00000343344.4_In_Frame_Del_p.Q310del	p.Q310del	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	8	1110_1112	+			310			Gln-rich.		Q5UBU5|Q8N7Q1	In_Frame_Del	DEL	ENST00000343344.4	37	c.910_912delCAG	CCDS11163.1																																																																																				0.596	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		10	127						10	127	---	---	---	---
MIEF2	125170	broad.mit.edu	37	17	18167778	18167780	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:18167778_18167780delGCT	ENST00000323019.4	+	4	1276_1278	c.1065_1067delGCT	c.(1063-1068)cggctg>cgg	p.L360del	MIEF2_ENST00000395706.2_In_Frame_Del_p.L371del|MIEF2_ENST00000395704.4_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	360					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)		p.L356R(1)									CTCGCCGGCGGCTGCTGCTGCTG	0.685																																						ENST00000323019.4																			1	Substitution - Missense(1)	p.L356R(1)	central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9						c.(1063-1068)cgg>cg																																						SO:0001651	inframe_deletion	0					integral to membrane	protein binding	g.chr17:18167778_18167780delGCT	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"""Smith-Magenis syndrome chromosome region, candidate 7"""	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.1065_1067delGCT	17.37:g.18167787_18167789delGCT	ENSP00000323591:p.Leu360del					SMCR7_ENST00000395704.4_3'UTR|SMCR7_ENST00000395706.2_In_Frame_Del_p.RL366del	p.RL355del	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN			4	1276_1278	+	all_neural(463;0.228)		355					J3KPT3|Q6ZRD4|Q96N07	In_Frame_Del	DEL	ENST00000323019.4	37	c.1065_1067delGCT	CCDS11193.1																																																																																				0.685	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162		8	322						8	322	---	---	---	---
TBCD	6904	broad.mit.edu	37	17	80726352	80726352	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:80726352delT	ENST00000355528.4	+	5	622	c.492delT	c.(490-492)cctfs	p.P164fs	TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Frame_Shift_Del_p.P164fs	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	164					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GCCTGATCCCTTTTGATTTTT	0.473																																						ENST00000355528.4																			0											c.(490-492)ccfs		tubulin folding cofactor D							217.0	222.0	220.0					17																	80726352		1965	4153	6118	SO:0001589	frameshift_variant	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80726352delT	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.492delT	17.37:g.80726352delT	ENSP00000347719:p.Pro164fs					TBCD_ENST00000539345.2_Frame_Shift_Del_p.P164fs|TBCD_ENST00000397466.2_5'UTR	p.P164fs	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		5	622	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	164					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Frame_Shift_Del	DEL	ENST00000355528.4	37	c.492delT	CCDS45818.1																																																																																				0.473	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		8	1069						8	1069	---	---	---	---
SEH1L	81929	broad.mit.edu	37	18	12986927	12986929	+	3'UTR	DEL	TCC	TCC	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr18:12986927_12986929delTCC	ENST00000262124.11	+	0	2886_2888				SEH1L_ENST00000399892.2_In_Frame_Del_p.P385del|RP11-773H22.4_ENST00000588211.1_RNA	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)						attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522																																						ENST00000399892.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(1135-1140)ctt>ct		SEH1-like (S. cerevisiae)																																				SO:0001624	3_prime_UTR_variant	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12986927_12986929delTCC	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"""WD repeat domain containing"""	30379	protein-coding gene	gene with protein product	"""sec13 like protein"", ""nucleoporin Seh1"""	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.*1678TCC>-	18.37:g.12986936_12986938delTCC						SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA	p.LP379del	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN			9	1238_1240	+			0					A8K5B1|Q8NFU6|Q96MH3|Q9C069	In_Frame_Del	DEL	ENST00000262124.11	37	c.1137_1139delTCC	CCDS45832.1																																																																																				0.522	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		8	334						8	334	---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21426313	21426313	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr18:21426313delT	ENST00000313654.9	+	31	4013	c.3772delT	c.(3772-3774)tttfs	p.F1258fs	LAMA3_ENST00000399516.3_Frame_Shift_Del_p.F1258fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1258	Domain IV 1 (domain IV B).				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CCTGGTGGCCTTTTACCACAA	0.622																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(3772-3774)ttfs		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						89.0	92.0	91.0					18																	21426313		1930	4130	6060	SO:0001589	frameshift_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21426313delT	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.3772delT	18.37:g.21426313delT	ENSP00000324532:p.Phe1258fs					LAMA3_ENST00000399516.3_Frame_Shift_Del_p.F1258fs	p.F1258fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			31	4013	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1258			Domain IV 1 (domain IV B).		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Frame_Shift_Del	DEL	ENST00000313654.9	37	c.3772delT	CCDS42419.1																																																																																				0.622	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		7	681						7	681	---	---	---	---
DENND1C	79958	broad.mit.edu	37	19	6477251	6477251	+	Frame_Shift_Del	DEL	G	G	-	rs553532837	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:6477251delG	ENST00000381480.2	-	8	603	c.491delC	c.(490-492)cctfs	p.P164fs	DENND1C_ENST00000543576.1_Frame_Shift_Del_p.P120fs|DENND1C_ENST00000591030.1_5'UTR	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	164	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CCCCCGGGTAGGGGGGGGGAT	0.672													GGGGGtGGG|GGGGGGGGG|GGGGGGGG|complex_deletion	5	0.000998403	0.0008	0.0	5008	,	,		12739	0.003		0.001	False		,,,				2504	0.0					ENST00000381480.2																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						c.(490-492)ctfs		DENN/MADD domain containing 1C							20.0	25.0	24.0					19																	6477251		1952	4130	6082	SO:0001589	frameshift_variant	79958					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr19:6477251delG	AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.491delC	19.37:g.6477251delG	ENSP00000370889:p.Pro164fs					DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Frame_Shift_Del_p.P120fs	p.P164fs	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN			8	603	-			164			DENN.		B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Frame_Shift_Del	DEL	ENST00000381480.2	37	c.491delC	CCDS45938.1																																																																																				0.672	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898		9	219						9	219	---	---	---	---
TNFSF9	8744	broad.mit.edu	37	19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-	rs564151103	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)gggctg>ggg	p.L41del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	41	Poly-Leu.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768																																						ENST00000245817.3																			0				central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						c.(100-105)ggg>gg		tumor necrosis factor (ligand) superfamily, member 9																																				SO:0001651	inframe_deletion	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6531149_6531151delGCT	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"""Tumor necrosis factor (ligand) superfamily"""	11939	protein-coding gene	gene with protein product	"""receptor 4-1BB ligand"", ""homolog of mouse 4-1BB-L"""	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.102_104delGCT	19.37:g.6531158_6531160delGCT	ENSP00000245817:p.Leu41del						p.GL34del	NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN			1	140_142	+			34					Q2M3S2	In_Frame_Del	DEL	ENST00000245817.3	37	c.102_104delGCT	CCDS12169.1																																																																																				0.768	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		8	248						8	248	---	---	---	---
HAUS8	93323	broad.mit.edu	37	19	17160706	17160707	+	Frame_Shift_Del	DEL	GA	GA	-	rs532006952		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	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|HAUS8_ENST00000448593.2_Frame_Shift_Del_p.R403fs|CTD-2528A14.3_ENST00000598893.1_RNA			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_ENST00000253669.5_Frame_Shift_Del_p.SR403fs|HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs	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		8	1035						8	1035	---	---	---	---
PROSER3	148137	broad.mit.edu	37	19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-	rs370252048		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atctcc>atc	p.S218del	C19orf55_ENST00000396908.4_In_Frame_Del_p.S218del			Q2NL68	PRSR3_HUMAN		218	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGCCTCCATCTCCTCCTCCTCC	0.631																																						ENST00000544099.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(637-642)atc>at		chromosome 19 open reading frame 55				30,4128		11,8,2060						2.0	0.3			153	66,8064		29,8,4028	no	coding	C19orf55	NM_001039887.2		40,16,6088	A1A1,A1R,RR		0.8118,0.7215,0.7812				96,12192				SO:0001651	inframe_deletion	148137							g.chr19:36255947_36255949delCTC																												ENST00000544099.1:c.639_641delCTC	19.37:g.36255956_36255958delCTC	ENSP00000467267:p.Ser218del					C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del	p.IS213del			Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	702_704	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		213			Ser-rich.		Q8NDI3|Q8WWC8|Q96NL4	In_Frame_Del	DEL	ENST00000544099.1	37	c.639_641delCTC																																																																																					0.631	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			10	1207						10	1207	---	---	---	---
WDR62	284403	broad.mit.edu	37	19	36583666	36583668	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:36583666_36583668delGCA	ENST00000270301.7	+	19	2286_2288	c.2286_2288delGCA	c.(2284-2289)cggcag>cgg	p.Q766del	WDR62_ENST00000401500.2_In_Frame_Del_p.Q766del			O43379	WDR62_HUMAN	WD repeat domain 62	766					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTGACCACCGGCAGCAGCAGCAG	0.616																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(2284-2289)cgg>cg		WD repeat domain 62																																				SO:0001651	inframe_deletion	284403				cerebral cortex development	nucleus		g.chr19:36583666_36583668delGCA	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.2286_2288delGCA	19.37:g.36583675_36583677delGCA	ENSP00000270301:p.Gln766del					WDR62_ENST00000270301.7_In_Frame_Del_p.RQ762del	p.RQ762del	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		19	2321_2323	+	Esophageal squamous(110;0.162)		762					Q63HP9|Q659D7|Q8NBF7|Q96AD9	In_Frame_Del	DEL	ENST00000270301.7	37	c.2286_2288delGCA	CCDS33001.1																																																																																				0.616	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		7	715						7	715	---	---	---	---
LYPD3	27076	broad.mit.edu	37	19	43969653	43969655	+	In_Frame_Del	DEL	AGC	AGC	-	rs141441894	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:43969653_43969655delAGC	ENST00000244333.3	-	1	157_159	c.69_71delGCT	c.(67-72)ctgctt>ctt	p.23_24LL>L		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	23					cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACCTCCGCGAAGCAGCAGCAGCA	0.675																																						ENST00000244333.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11						c.(67-72)ctt>ct		LY6/PLAUR domain containing 3																																				SO:0001651	inframe_deletion	27076					anchored to plasma membrane		g.chr19:43969653_43969655delAGC	AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.69_71delGCT	19.37:g.43969662_43969664delAGC	ENSP00000244333:p.Leu24del						p.LL23del	NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN			1	157_159	-		Prostate(69;0.0153)	23					Q9UJ74	In_Frame_Del	DEL	ENST00000244333.3	37	c.69_71delGCT	CCDS12620.1																																																																																				0.675	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463177.1	NM_014400		7	612						7	612	---	---	---	---
MIR518F	574472	broad.mit.edu	37	19	54200830	54200830	+	RNA	DEL	A	A	-	rs80268200		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:54200830delA	ENST00000384973.1	+	0	0				MIR525_ENST00000384978.1_RNA|MIR523_ENST00000385281.1_RNA|MIR519B_ENST00000385090.1_RNA	NR_030194.1				microRNA 518f																		CTCTTATGTGAAAAAAAAGAA	0.423																																						ENST00000384978.1																			0																				80.0	78.0	79.0					19																	54200830		1568	3582	5150			0							g.chr19:54200830delA			19q13.42	2011-09-12		2008-12-18	ENSG00000207706	ENSG00000207706		"""ncRNAs / Micro RNAs"""	32104	non-coding RNA	RNA, micro				MIRN518F			Standard	NR_030194		Approved	hsa-mir-518f	uc021uzx.1				19.37:g.54200830delA								NR_030192.1						0	44	+									RNA	DEL	ENST00000384973.1	37																																																																																						0.423	MIR518F-201	KNOWN	basic	miRNA	miRNA		NR_030194		8	645						8	645	---	---	---	---
LILRB1	10859	broad.mit.edu	37	19	55143067	55143068	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:55143067_55143068insA	ENST00000396331.1	+	5	544_545	c.187_188insA	c.(187-189)gaafs	p.E63fs	LILRB1_ENST00000396315.1_Frame_Shift_Ins_p.E63fs|LILRB1_ENST00000418536.2_Frame_Shift_Ins_p.E63fs|LILRB1_ENST00000324602.7_Frame_Shift_Ins_p.E63fs|LILRB1_ENST00000448689.1_Frame_Shift_Ins_p.E63fs|LILRB1_ENST00000396332.4_Frame_Shift_Ins_p.E63fs|LILRB1_ENST00000434867.2_Frame_Shift_Ins_p.E63fs|LILRB1_ENST00000396321.2_Frame_Shift_Ins_p.E63fs|LILRB1_ENST00000396317.1_Frame_Shift_Ins_p.E63fs|LILRB1_ENST00000427581.2_Frame_Shift_Ins_p.E99fs|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000396327.3_Frame_Shift_Ins_p.E63fs	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	63	Ig-like C2-type 1.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TCTATATAGAGAAAAGAAAACA	0.569										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(187-189)aaafs		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1																																				SO:0001589	frameshift_variant	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143067_55143068insA	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.191dupA	19.37:g.55143071_55143071dupA	ENSP00000379622:p.Glu63fs	HNSCC(37;0.09)				LILRB1_ENST00000427581.2_Frame_Shift_Ins_p.K99fs|LILRB1_ENST00000418536.2_Frame_Shift_Ins_p.K63fs|LILRB1_ENST00000434867.2_Frame_Shift_Ins_p.K63fs|LILRB1_ENST00000396332.4_Frame_Shift_Ins_p.K63fs|LILRB1_ENST00000324602.7_Frame_Shift_Ins_p.K63fs|LILRB1_ENST00000396315.1_Frame_Shift_Ins_p.K63fs|LILRB1_ENST00000396327.3_Frame_Shift_Ins_p.K63fs|LILRB1_ENST00000448689.1_Frame_Shift_Ins_p.K63fs|LILRB1_ENST00000396321.2_Frame_Shift_Ins_p.K63fs|LILRB1_ENST00000396317.1_Frame_Shift_Ins_p.K63fs	p.K63fs	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	5	544_545	+			63			Ig-like C2-type 1.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Frame_Shift_Ins	INS	ENST00000396331.1	37	c.187_188insA	CCDS42617.1																																																																																				0.569	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			83	569						83	569	---	---	---	---
KIZ-AS1	101929591	broad.mit.edu	37	20	21146805	21146805	+	RNA	DEL	G	G	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr20:21146805delG	ENST00000591761.1	-	0	5051				PLK1S1_ENST00000457464.1_RNA																							TTTTTTTTTTGTCCATGAGGC	0.383																																						ENST00000591761.1																			0																																																			0							g.chr20:21146805delG																													20.37:g.21146805delG						PLK1S1_ENST00000457464.1_RNA								0	5051	-									RNA	DEL	ENST00000591761.1	37																																																																																						0.383	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			9	92						9	92	---	---	---	---
ASXL1	171023	broad.mit.edu	37	20	31022442	31022442	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr20:31022442delG	ENST00000375687.4	+	13	2351	c.1927delG	c.(1927-1929)gggfs	p.G646fs	ASXL1_ENST00000306058.5_Frame_Shift_Del_p.G641fs	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	646	Gly-rich.|Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.G643fs*15(3)|p.A640fs*14(2)|p.T639_G659>PPWD(1)|p.A637fs*13(1)|p.A640_S664>PCSGG(1)|p.T639fs*14(1)|p.T639fs*19(1)|p.T639_P647>PPSDGS(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TGCCATCGGAGGGGGGGGTGG	0.692			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		11	Deletion - Frameshift(4)|Complex - deletion inframe(3)|Insertion - Frameshift(3)|Complex - frameshift(1)	p.G643fs*15(3)|p.A640fs*14(2)|p.T639_G659>PPWD(1)|p.A637fs*13(1)|p.A640_S664>PCSGG(1)|p.T639fs*14(1)|p.T639fs*19(1)|p.T639_P647>PPSDGS(1)	haematopoietic_and_lymphoid_tissue(11)	NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(1927-1929)ggfs		additional sex combs like 1 (Drosophila)				114,54,3462		18,0,78,3,48,1668	6.0	8.0	7.0			4.4	1.0	20		7	161,165,6938		9,0,143,5,155,3320	no	codingComplex	ASXL1	NM_015338.5		27,0,221,8,203,4988	A1A1,A1A2,A1R,A2A2,A2R,RR		4.4879,4.6281,4.5346			31022442	275,219,10400	2008	3998	6006	SO:0001589	frameshift_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31022442delG	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1927delG	20.37:g.31022442delG	ENSP00000364839:p.Gly646fs					ASXL1_ENST00000306058.5_Frame_Shift_Del_p.G641fs	p.G646fs	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			13	2351	+			646			Gly-rich.		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Frame_Shift_Del	DEL	ENST00000375687.4	37	c.1927delG	CCDS13201.1																																																																																				0.692	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		7	102						7	102	---	---	---	---
SALL4	57167	broad.mit.edu	37	20	50408346	50408348	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr20:50408346_50408348delGCT	ENST00000217086.4	-	2	785_787	c.674_676delAGC	c.(673-678)cagcta>cta	p.Q225del	SALL4_ENST00000395997.3_In_Frame_Del_p.Q225del|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'Flank	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	225					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATCTGCTGTAGCTGCTGCTGCTG	0.645																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(673-678)cta>c		spalt-like transcription factor 4																																				SO:0001651	inframe_deletion	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50408346_50408348delGCT	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.674_676delAGC	20.37:g.50408355_50408357delGCT	ENSP00000217086:p.Gln225del					SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_In_Frame_Del_p.QL225del	p.QL225del	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			2	785_787	-			225					A2A2D8|Q540H3|Q6Y8G6	In_Frame_Del	DEL	ENST00000217086.4	37	c.674_676delAGC	CCDS13438.1																																																																																				0.645	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			10	345						10	345	---	---	---	---
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	CTG	-	rs141985009	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:30742328_30742330delCTG	ENST00000215793.8	-	3	518_520	c.364_366delCAG	c.(364-366)cagdel	p.Q122del	SF3A1_ENST00000439242.1_Intron	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	122	Poly-Gln.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GCTGGGTGGTCTGCTGCTGCTGC	0.606																																						ENST00000215793.7																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						c.(364-366)del		splicing factor 3a, subunit 1, 120kDa																																				SO:0001651	inframe_deletion	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30742328_30742330delCTG	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.364_366delCAG	22.37:g.30742337_30742339delCTG	ENSP00000215793:p.Gln122del					SF3A1_ENST00000439242.1_Intron	p.Q122del	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN			3	518_520	-			122			Poly-Gln.		E9PAW1	In_Frame_Del	DEL	ENST00000215793.8	37	c.364_366delCAG	CCDS13875.1																																																																																				0.606	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		8	511						8	511	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38120029	38120031	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:38120029_38120031delCCT	ENST00000406386.3	+	7	1721_1723	c.1466_1468delCCT	c.(1465-1470)gcctcc>gcc	p.S491del		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	491					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAG	0.601																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1465-1470)gcc>g		TRIO and F-actin binding protein																																				SO:0001651	inframe_deletion	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120029_38120031delCCT	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1466_1468delCCT	22.37:g.38120032_38120034delCCT	ENSP00000384312:p.Ser491del					RP1-37E16.12_ENST00000455236.1_RNA	p.AS489del	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1721_1723	+	Melanoma(58;0.0574)		489					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	In_Frame_Del	DEL	ENST00000406386.3	37	c.1466_1468delCCT	CCDS43015.1																																																																																				0.601	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			8	424						8	424	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38120323	38120325	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:38120323_38120325delCCT	ENST00000406386.3	+	7	2015_2017	c.1760_1762delCCT	c.(1759-1764)gcctcc>gcc	p.S589del		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	589					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAA	0.596																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1759-1764)gcc>g		TRIO and F-actin binding protein																																				SO:0001651	inframe_deletion	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120323_38120325delCCT	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1760_1762delCCT	22.37:g.38120326_38120328delCCT	ENSP00000384312:p.Ser589del					RP1-37E16.12_ENST00000455236.1_RNA	p.AS587del	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	2015_2017	+	Melanoma(58;0.0574)		587					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	In_Frame_Del	DEL	ENST00000406386.3	37	c.1760_1762delCCT	CCDS43015.1																																																																																				0.596	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			7	756						7	756	---	---	---	---
PICK1	9463	broad.mit.edu	37	22	38471034	38471036	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:38471034_38471036delGGA	ENST00000404072.3	+	13	1490_1492	c.1143_1145delGGA	c.(1141-1146)ggggag>ggg	p.E388del	RP5-1039K5.13_ENST00000445483.1_RNA|PICK1_ENST00000356976.3_In_Frame_Del_p.E388del	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	388	Poly-Glu.				ATP catabolic process (GO:0006200)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|dendritic spine maintenance (GO:0097062)|dendritic spine organization (GO:0097061)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|glial cell development (GO:0021782)|long term synaptic depression (GO:0060292)|monoamine transport (GO:0015844)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|neuronal ion channel clustering (GO:0045161)|positive regulation of receptor internalization (GO:0002092)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|protein targeting (GO:0006605)|receptor clustering (GO:0043113)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endocytic vesicle membrane (GO:0030666)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein kinase C binding (GO:0005080)|receptor binding (GO:0005102)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					TCACAGATGGggaggaggaggag	0.635																																						ENST00000404072.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(1141-1146)ggg>gg		protein interacting with PRKCA 1																																				SO:0001651	inframe_deletion	9463				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding	g.chr22:38471034_38471036delGGA	AL049654	CCDS13965.1	22q13.1	2006-02-14	2006-02-14	2006-02-14	ENSG00000100151	ENSG00000100151			9394	protein-coding gene	gene with protein product		605926	"""protein kinase C, alpha binding protein"", ""protein interacting with PRKCA"""	PRKCABP		10340301, 10591208	Standard	XM_006724377		Approved	dJ1039K5, MGC15204	uc003aus.3	Q9NRD5	OTTHUMG00000151159	ENST00000404072.3:c.1143_1145delGGA	22.37:g.38471043_38471045delGGA	ENSP00000385205:p.Glu388del					PICK1_ENST00000356976.3_In_Frame_Del_p.GE381del	p.GE381del	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN			13	1490_1492	+	Melanoma(58;0.045)		381					B3KS52|O95906	In_Frame_Del	DEL	ENST00000404072.3	37	c.1143_1145delGGA	CCDS13965.1																																																																																				0.635	PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321569.2	NM_012407		13	182						13	182	---	---	---	---
FAM155B	27112	broad.mit.edu	37	X	68725672	68725672	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chrX:68725672delA	ENST00000252338.4	+	1	589	c.547delA	c.(547-549)aaafs	p.K184fs	AL158069.1_ENST00000579664.1_RNA	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	184						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						CCCCTCCGCCAAAAAAAACTT	0.592																																						ENST00000252338.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						c.(547-549)aafs		family with sequence similarity 155, member B							42.0	43.0	43.0					X																	68725672		2203	4300	6503	SO:0001589	frameshift_variant	27112					integral to membrane		g.chrX:68725672delA	AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"""transmembrane protein 28"", ""chromosome X open reading frame 63"""	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.547delA	X.37:g.68725672delA	ENSP00000252338:p.Lys184fs						p.K184fs	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN			1	589	+			184					B1ALV6|B9EGK1|D3DVU1	Frame_Shift_Del	DEL	ENST00000252338.4	37	c.547delA	CCDS35317.1																																																																																				0.592	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057037.1	NM_015686		7	206						7	206	---	---	---	---
BHLHB9	80823	broad.mit.edu	37	X	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)gagdel	p.E171del	BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	171	Poly-Glu.				learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488																																						ENST00000372735.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(496-498)del		basic helix-loop-helix domain containing, class B, 9																																				SO:0001651	inframe_deletion	80823					cytoplasm|nucleus	binding	g.chrX:102004419_102004421delGAG	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.496_498delGAG	X.37:g.102004428_102004430delGAG	ENSP00000361820:p.Glu171del					BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del	p.E171del			Q6PI77	BHLH9_HUMAN			4	1081_1083	+			171			Poly-Glu.		Q9C0G2	In_Frame_Del	DEL	ENST00000372735.1	37	c.496_498delGAG	CCDS14502.1																																																																																				0.488	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		12	487						12	487	---	---	---	---
HTATSF1	27336	broad.mit.edu	37	X	135585048	135585050	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chrX:135585048_135585050delAAG	ENST00000218364.4	+	5	856_858	c.682_684delAAG	c.(682-684)aagdel	p.K232del	HTATSF1_ENST00000535601.1_In_Frame_Del_p.K232del	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	232	Poly-Lys.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TGATGCCTCAAAGAAGAAGAAGA	0.335																																						ENST00000535601.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(682-684)del		HIV-1 Tat specific factor 1																																				SO:0001651	inframe_deletion	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135585048_135585050delAAG	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.682_684delAAG	X.37:g.135585057_135585059delAAG	ENSP00000218364:p.Lys232del					HTATSF1_ENST00000218364.4_In_Frame_Del_p.K232del	p.K232del	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN			6	1104_1106	+	Acute lymphoblastic leukemia(192;0.000127)		232			Poly-Lys.		D3DWG9|Q59G06|Q99730	In_Frame_Del	DEL	ENST00000218364.4	37	c.682_684delAAG	CCDS14657.1																																																																																				0.335	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		7	375						7	375	---	---	---	---
